AG��APP-sbf111��-(��900bet.net��)-AG��APP-BG��-��315bet.net��-AG��APP-AG��APP-AG��APP-(��900bet.net��)

Cerebral Amyloid Angiopathy, App-Related OMIM

The proband's mother had died at age 83 with profound dementia; one sister, who was diagnosed with dementia with occipital calcifications and leukoencephalopathy at age 67, died 2 years later from intracranial hemorrhage; a brother had an occipital hemorrhage at age 58, at which time occipital calcifications and leukoencephalopathy were discovered; and another brother died after a minor stroke at age 70 with dementia, occipital calcifications, and external carotid artery dysplasia. ... The number of microbleeds correlated with increasing age, possibly reflecting disease progression. ... Revesz et al. (2003) reviewed the pathology and genetics of APP-related CAA and discussed the different neuropathologic consequences of different APP mutations. ... Human APP mRNA was detected in neurons and neuronal processes, but not in vessel walls. ... Herzig et al. (2006) extended their earlier studies by developing several murine models of APP-related CAA and APP-related parenchymal amyloid deposition.

APP, APOE, PAOX, SMOX, DELEC1, TSHZ1, SCRN1, BHLHE40, TGFBR2, TGFB1, PSEN1, SERPINF2, SERPINF1, NOTCH3, SMAD2, LAMC2, CST3, CSF2, CRP, LINC01672

Abeta Amyloidosis, Iowa Type Orphanet

A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein.
Abeta Amyloidosis, Dutch Type Orphanet

Clinical description HCHWA-D presents with hemorrhagic stroke between the ages of 39-76 years (average age 50 years). ... Dementia is seen in the majority of patients with HCHWA-D over the age of 40. Epilepsy is also seen in half of patients who have already experienced a previous stroke. Etiology HCHWA-D is due to a mutation in the APP gene on chromosome 21q21.2, encoding the beta-amyloid precursor protein. ... Genetic testing reveals a mutation in the APP gene. Differential diagnosis Differential diagnoses include other conditions that could cause intracerebral hemorrhage such as coagulopathies, vasculitis (see these terms), CNS neoplasms, cerebral vascular malformations, ischemic stroke and antecedent trauma.
Hereditary Cerebral Amyloid Angiopathy MedlinePlus

The Dutch type is the most common, with over 200 affected individuals reported in the scientific literature. Causes Mutations in the APP gene are the most common cause of hereditary cerebral amyloid angiopathy. APP gene mutations cause the Dutch, Italian, Arctic, Iowa, Flemish, and Piedmont types of this condition. ... Familial British and Danish dementia are caused by mutations in the ITM2B gene. The APP gene provides instructions for making a protein called amyloid precursor protein. ... Additionally, the ITM2B protein may be involved in processing the amyloid precursor protein. Mutations in the APP , CST3 , or ITM2B gene lead to the production of proteins that are less stable than normal and that tend to cluster together (aggregate). ... Learn more about the genes associated with Hereditary cerebral amyloid angiopathy APP CST3 ITM2B Inheritance Pattern Hereditary cerebral amyloid angiopathy caused by mutations in the APP , CST3 , or ITM2B gene is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Abetal34v Amyloidosis Orphanet

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein.
Abetaa21g Amyloidosis Orphanet

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein.
Abeta Amyloidosis, Arctic Type Orphanet

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years, progressive Alzheimer's disease-like dementia, and absence of intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein.
Abeta Amyloidosis, Italian Type Orphanet

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein.

Early-Onset Alzheimer's Disease Wikipedia

Alzheimer's disease developing before the age of 65 Early-onset Alzheimer's disease Specialty Neurology Early-onset Alzheimer's disease , also called early-onset Alzheimer's , younger-onset Alzheimer's [1] or early-onset AD , is Alzheimer's disease diagnosed before the age of 65. ... This loss of brain volume affects ones ability to live and function properly, ultimately being fatal. [5] Beta-amyloid is a small piece of a larger protein called the amyloid precursor protein (APP). Once APP is activated, it is cut into smaller sections of other proteins. ... Alpha-secretase cleavage of APP, which precludes the production of Aβ, is the most common processing event for APP. 21 allelic mutations have been discovered in the APP gene. ... "A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid". ... (PDF) . The International Journal of Ageing and Later Life . 10 (2): 9–29. doi : 10.3384/ijal.1652-8670.16302 .

Inclusion Body Myositis OMIM

Description Sporadic inclusion body myositis (IBM) is the most common age-related muscle disease in the elderly that results in severe disability. ... All 5 affected males had significant clinical findings with age of onset at 20 to 30 years. The only affected female was clinically asymptomatic but on muscle biopsy showed mild changes consistent with IBM. ... The authors discussed the abnormalities of APP processing, the role of abnormal intracellular protein folding, oxidative stress, and the potential role of cholesterol in the pathogenic cascade of IBM. ... To elucidate the possible role of beta-APP mismetabolism in the pathogenesis of IBM, Sugarman et al. (2002) selectively targeted beta-APP overexpression to skeletal muscle in transgenic mice, using the muscle creatine kinase promoter. They reported that older (more than 10 months) transgenic mice exhibited intracellular immunoreactivity to beta-APP and its proteolytic derivatives in skeletal muscle.

GNE, NT5C1A, APP, TARDBP, HLA-DRB1, SQSTM1, APOE, KHDRBS1, NUP62, DCTN4, GTF2H1, SDC1, CDR3, GSN, MAPT, TRBV20OR9-2, HLA-C, PLAAT4, FYCO1, MSTN, TNFRSF12A, NFAT5, CCR2, UBB, MALAT1, VCP, RBM45, AOC3, DCD, UCN2, DNAJB6, OPTN, KLRG1, MAP1LC3A, LILRB1, KDELR1, ICOSLG, SYNM, ROBO3, DDX58, CHMP1B, PABPC1, TIMP1, RRM2B, TWNK, FOXP3, KRT20, TTR, ACTB, THBS1, CST3, HLA-DQA1, HK1, H1-0, NR3C1, EPHB2, EMD, DES, CD47, TGFB1, CD38, CD36, CD34, MS4A1, CAPN3, BCL2, AOC2, HLA-DRB3, HMGB1, IFN1@, IFNG, TRIM21, AGER, MOK, PTPRC, PSME1, PSMB10, MAPK1, POLG, PMP22, MMP9, MMP1, MLF1, LMNA, IL6, IL1B, LOC102723996

Inclusion Body Myositis Orphanet

Epidemiology IBM has a highly variable prevalence according to geographic, ethnic and age criteria. Prevalence in the general population ranges from 1:1,000,000 to 1:14,000 but a three-fold increase is observed when considering only a population over 50 years. ... No causal gene has been identified but HLA-DR3 and 8-1 MHC genotypes have been shown to correlate with IBM susceptibility. Ageing and environmental factors are also surmised to play a triggering role. ... Diagnostic methods Diagnosis is based on physical examination (especially the detection of finger flexor weakness), patient's age and the duration of symptoms over 6 months being additional diagnostic clues.
Inclusion Body Myositis Wikipedia

Contents 1 Signs and symptoms 2 Causes 2.1 Genetics 3 Diagnosis 3.1 Differential diagnosis 3.2 Classification 4 Treatment 5 Other related disorders 6 References 7 External links Signs and symptoms [ edit ] How sIBM affects individuals is quite variable as is the age of onset (which generally varies from the forties upwards). ... One hypothesis suggests that the inflammation-immune reaction, caused by an unknown trigger – likely an undiscovered virus or an autoimmune disorder – is the primary cause of sIBM and that the degeneration of muscle fibers and protein abnormalities are secondary features. [15] Despite the arguments "in favor of an adaptive immune response in sIBM, a purely autoimmune hypothesis for sIBM is untenable because of the disease's resistance to most immunotherapy." [16] The second school of thought advocates the theory that sIBM is a degenerative disorder related to aging of the muscle fibers and that abnormal, potentially pathogenic protein accumulations in myofibrils play a key causative role in sIBM (apparently before the immune system comes into play). ... PMID 24067381 . ^ "Sporadic Inclusion Body Myositis" . ^ "Inclusion Body Myositis. IBM information; Age Related illness" . ^ "Understanding IBM" . ^ Cox, FM; Titulaer, MJ; Sont, JK; Wintzen, AR; et, al (November 1, 2011).
Idiopathic Inflammatory Myopathy MedlinePlus

Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age.
Inclusion Body Myositis GARD

IBM develops in adulthood, usually after age 50. The symptoms and rate of progression vary from person to person.

Alzheimer Disease OMIM

Bateman et al. (2012) used the participant's age at baseline assessment and the parent's age at the onset of symptoms of AD to calculate the estimated years from expected symptom onset (age of the participant minus parent's age at symptom onset). ... The mean age of onset of dementia was 43 years. ... In the 5 index cases with the combination of early-onset Alzheimer disease and CAA, they found evidence for a duplication of the APP locus (104760.0020). In the corresponding families, the APP locus duplication was present in affected subjects but not in healthy subjects over the age of 60 years. ... Revesz et al. (2003) reviewed the pathology and genetics of APP-related CAA and discussed the different neuropathologic consequences of different APP mutations. ... Di Fede et al. (2009) identified a homozygous mutation in the APP gene (A673V; 104760.0022) in a patient with early-onset progressive AD beginning at age 36 years.

TOMM40, TREM2, ABCA7, APP, APOE, PSEN2, PSEN1, MAPT, SORL1, PRNP, CASP3, BACE1, GSK3B, NCSTN, IDE, IL1B, HFE, A2M, ACE, DHCR24, BIN1, ESR1, ADAM10, ADAMTS1, PGRMC1, VEGFA, ARC, CYP46A1, SLC30A4, VSNL1, PICALM, HMOX1, HLA-DRB5, IGF1R, IGF1, INPP5D, IGF2, MPO, NPY, NOS3, PLAU, PLCG2, PPARG, RELN, MTHFR, PYY, NECTIN2, SLC2A4, IGF2R, SOD2, MAOB, TF, LEP, TFAM, INSR, INS, TNF, TPI1, EPHA1, F2, ENO1, CR1, CASS4, ATP5F1A, CLU, CHRNB2, CHRNA7, MIR766, CD33, IQCK, EIF2S1, MIR505, APOC1, CALM1, MIR100, MIR146A, BDNF, BCL2, MIR375, MIR296, BCHE, MIR708, TPP1, SLC30A6, SNAR-I, DPYSL2, ACHE, CD2AP, GAPDHS, PCDH11X, CYP2D6, MIR4467, CRH, MIR3622B, BAX, AMFR, ABI3, CST3, MS4A4A, WWOX, BRCA2, FANCD2, TFF1, TAS2R64P, CTNNB1, SUCLA2, SNCA, CTSD, RNR2, NEFL, TAS2R62P, SOD1, ITPR3, ITPR2, ITPR1, FLAD1, PSENEN, TP53, CDK5R1, EIF2AK3, UBQLN1, ALG3, PIK3CG, PIK3CA, PIK3CD, SERPINA3, PIK3CB, DOCK3, APLP1, OGDH, CREB1, NOTCH1, CASP6, NGF, CCND1, FOS, DLX4, DLG4, DDIT3, RABGEF1, PEBP1, PYCARD, DAPK2, KCNIP3, CTSB, CSF2, CRMP1, CTSG, EHMT2, ENO2, ERBB4, TMED10, TERF2IP, PTK2B, FCN2, PTGES3, FGF2, ACKR1, DNM1L, SDC3, G6PD, GCHFR, ITM2B, CREBBP, MAP3K8, TRPM7, ADI1, MTCO2P12, UPK3B, ACTB, AKT1, AKT2, ANXA1, APBB1, DNLZ, STS, MIR34A, BRCA1, MIR137, C5AR1, DDR1, CAMK4, TMED10P1, MPEG1, C9orf72, ESCO1, CDCA5, PRRT2, MAP1LC3B, CAT, EHMT1, CNR2, SPPL2B, RAB9A, NRXN3, GFAP, SYNJ1, SERPINB5, CD99, MME, MNAT1, CCL2, RRAS, RPS27, RPS21, RAP1A, PYCR1, COX2, PTS, PTGS2, MTHFD1, MMUT, NCAM1, NFIA, NFIB, MAPK8, MAPK3, PRKCB, PRKCA, PPBP, MED1, NFIC, PPARA, NFIX, PKD1, NOTCH3, NRGN, MEOX2, MEF2A, SPRR2A, TTC3, GRIN2A, DENR, GRIN2B, RAB7A, LRP8, HPRT1, HSP90AA1, VIM, IDUA, UTRN, SUMO1, UBE2I, TTK, TPT1, SULT1E1, IL1A, IL6, IL12A, TSPAN6, TIE1, TGFB1, TG, KNG1, LAMC2, LGALS3, TERT, TERC, STIM1, H3P17

Alzheimer Disease 13 OMIM

For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300. Mapping Liu et al. (2007) conducted a genome screen of 103 patients with late-onset AD who were ascertained as part of the Genetic Research in Isolated Populations (GRIP) program that was conducted in an isolated population from the southwestern area of the Netherlands. Genealogic information resulted in an extremely large and complex pedigree of 4,645 members. The pedigree was split into 35 subpedigrees to reduce the computational burden of linkage analysis. The strongest evidence for linkage, hlod = 5.20 at marker D1S498, was obtained at chromosome 1q21 (AD13).
Early-Onset Autosomal Dominant Alzheimer Disease GARD

Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. ... There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes: (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene.
Alzheimer Disease 11 OMIM

Scott et al. (2003) reexamined 437 white AD families included in the original report by Pericak-Vance et al. (2000) by considering age of onset as a covariate. Ordered-subsets analysis included continuous covariates in linkage analysis by rank ordering families by a covariate and summing lod scores. The lod score in the 9p22 region previously linked to AD increased to 4.6 at D9S741 in 334 families with minimum age at onset between 60 and 75 years. The analysis also identified linkage to 2q34, with a peak nonparametric multipoint lod score of 3.2 at D2S2944 in 31 families with a minimum age at onset between 50 and 60 years. ... Farrer et al. (2003) observed an unusually high prevalence of dementia of the Alzheimer type in Wadi Ara, an inbred Arab community in northern Israel comprising approximately 850 persons over the age of 60 years. A 10-cM genomic scan revealed significant allelic association with AD (p less than 0.05) at locations on chromosomes 2, 9, 10, and 12.
Alzheimer Disease 6 OMIM

These individuals were on average 11.3 years younger than the onset age of their parents. All were APOE4-(107741) negative. ... The findings indicated that SORCS1 can influence APP processing, and Reitz et al. (2011) suggested that variation in the SORCS1 gene may be associated with risk of LOAD. ... The CT and TT genotypes of rs2227564 were associated with LOAD (p = 0.05) and with age-dependent elevation of plasma A-beta-42 in 24 extended LOAD families (p = 0.0006). In Plau-knockout mice, plasma A-beta-42 and A-beta-40 levels, but not levels in brain, were significantly elevated in an age-dependent manner. Grupe et al. (2006) reported no association between AD and the PLAU gene. ... The findings indicated a role for calcium signaling in APP (104760) processing and suggested that variations in the CALHM1 gene may influence susceptibility to late-onset AD.
Alzheimer Disease 5 OMIM

Their results extended and provided modest evidence of linkage to loci on 12p. Linkage varied by age at onset of AD and by the presence or absence of the APOE epsilon-4 allele. Lod scores were lower when the E4 allele (107741.0016) was present; the lod score was reduced in families with onset after 65 years of age. Lambert et al. (2000) reported an association between a noncoding polymorphism (G-A) in the 3-prime untranslated region of transcription factor CP2 (TCFP2; 189889) and sporadic AD in French and British populations and a similar trend in a North American population. ... No significant effects were found when the data were adjusted for age, sex, or the presence of the apoE E4 allele. Farrer et al. (2003) observed an unusually high prevalence of dementia of the Alzheimer type in Wadi Ara, an inbred Arab community in northern Israel in which approximately 850 persons were over the age of 60 years. A 10-cM genomic scan revealed significant allelic association with AD (p less than 0.05) at locations on chromosomes 2, 9, 10, and 12.
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology OMIM

INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Alzheimer disease - Seizures - Cerebral cortex with spongiform changes - Neurofibrillary tangles - Beta-amyloid-positive senile plaques - Prion protein-positive senile plaques MISCELLANEOUS - Age of onset 43-64 years ▲ Close
Alzheimer Disease 8 OMIM

Mapping In a linkage study of 272 affected sib pairs (ASPs) with AD who were 60 years of age or older at onset, Blacker et al. (1997) found strong evidence of linkage on chromosomes 20 (lod score = 4.09) and 21 (lod score = 5.9). ... Within this candidate region, 1 gene of particular interest was that encoding cystatin-3 (CST3; 604312), because it is known to be an amyloidogenic protein and is codeposited with the amyloid-beta precursor protein (APP; 104760) in amyloid plaques in the brain of AD patients. Using a covariate-based linkage method, Olson et al. (2001) showed that the APP region on chromosome 21q21 is strongly linked to AD-affected sib pairs of the oldest current age (i.e., age either at last exam or at death) who lacked E4 alleles at the apolipoprotein E (APOE; 107741) locus. In further use of a covariate-based linkage method to reanalyze genome scan data, Olson et al. (2002) determined that a region on chromosome 20p showed the same pattern. A model that included current age and the number of E2 alleles at the APOE locus as covariates gave a lod score of 4.1. ... Two-locus analysis provided evidence of strong epistasis between 20p and the APP region, limited to the oldest age group and to those lacking E4 alleles at the APOE locus.
Alzheimer Disease 2 OMIM

Reiman et al. (2001) found that 10 cognitively normal apoE4 heterozygotes aged 50 to 63 years also had abnormally low measurements of the cerebral metabolic rate for glucose in the same regions as AD patients. ... In a study of 48 kindreds with multiple cases of Alzheimer disease in 2 or more generations and with family age-at-onset means ranging from 41 to 83 years, Schellenberg et al. (1991) found negative lod scores for those families with onset after age 60, those families with onset before age 60, and for Volga German families with mean age of onset of 56. ... Molecular Genetics Corder et al. (1993) found that the risk for late-onset AD increased from 20 to 90% and mean age of onset decreased from 84 to 68 years with increasing number of APOE*E4 alleles (107741.0016) in 42 families with late-onset AD. Onset was early in 4 other families tested; 2 had chromosome 21 APP (104760) mutations and 2 showed linkage to chromosome 14, thus representing AD1 (104300) and AD3 (607822), respectively. ... Homozygosity for APOE*E4 was virtually sufficient alone to cause AD by age 80. Bray et al. (2004) applied highly quantitative measures of allele discrimination to cortical RNA from individuals heterozygous for the APOE E2, E3, and E4 alleles.
Early-Onset Autosomal Dominant Alzheimer Disease Orphanet

EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. ... Etiology EOAD is the consequence of either PSEN1 mutations (69%), APP mutations (13%), or APP duplication (7,5%), and exceptionally of PSEN2 mutations (2%). ... Lumbar puncture for measurement of cerebrospinal fluid tau and amyloid may be useful (tau and phosphorylated tau are often elevated and amyloid is usually low). Age of onset before 60 years suggests an EOAD and needs a pedigree.
Alzheimer Disease 4 OMIM

Other than the relatively early age at onset, AD in the Volga group was clinically and pathologically indistinguishable from typical AD. Bird et al. (1996) reported that the mean age at onset in the Volga Germans is 54.9 years, mean age at death is 65.9 years, and mean disease duration is 11.3 years. These findings contrasted with families with chromosome 14-linked AD (AD3; 607822), in which the mean age at onset is 44.8 years, mean age at death is 52.6 years, and mean disease duration is 7.6 years. ... Finckh et al. (2000) noted that there may be variable age at onset, reduced penetrance, or other genetic disease modifiers. ... There was no clinical correlation between age at onset or disease severity with Lewy body pathology in either group.
Familial Alzheimer Disease GARD

When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). ... There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes: (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene.
Alzheimer Disease 15 OMIM

For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300. Mapping Liu et al. (2007) conducted a genome screen of 103 patients with late-onset AD who were ascertained as part of the Genetic Research in Isolated Populations (GRIP) program that was conducted in an isolated population from the southwestern area of the Netherlands. Genealogic information resulted in an extremely large and complex pedigree of 4,645 members. The pedigree was split into 35 subpedigrees to reduce the computational burden of linkage analysis. They found significant evidence of linkage of AD to 3q22-q24 (AD15), in a region of 18 cM from D3S3514 to D3S3626 that reached a maximum hlod of 4.44 at marker D3S1579.
Alzheimer Disease 14 OMIM

For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300. Mapping In a genome screen of individuals from an isolated population from the southwestern area of the Netherlands, ascertained as part of the Genetic Research in Isolated Populations (GRIP) program, Liu et al. (2007) found the strongest evidence of linkage for chromosome 1q21 (AD13; 611152). Approximately 30 cM upstream of this locus, at 1q25, another peak (AD14) was found (hlod = 4.0 at marker D1S218). Liu et al. (2007) noted that these 2 loci were in a linkage region spanning 1q21-q31 identified by Zubenko et al. (1998), Hiltunen et al. (2001), Myers et al. (2002), and Blacker et al. (2003). Haplotype analysis showed that the 2 linkage peaks on chromosome 1q21 and 1q25 are explained by different haplotypes, of 15 cM and 21 cM, respectively, segregating in different families.
Alzheimer Disease 12 OMIM

Mapping Giedraitis et al. (2006) conducted a genome scan with 369 microsatellite markers in 12 extended families collected in Sweden. Age at disease onset ranged from 53 to 78 years, but in 10 of the families there was at least 1 member with age at onset of less than 65 years.
Alzheimer Disease 3 OMIM

Clinical Features Campion et al. (1995) studied a large pedigree that included 34 subjects with early-onset progressive dementia with mean age at onset at 46 plus or minus 3.5 years and mean age at death at 52.6. ... He had rapid progression with global impairment of all cognitive functions and became bedridden, anarthric, and incontinent by age 33. He died of bronchopneumonia at age 35. ... The proband developed memory problems at age 28 years. At age 31, he had mild bilateral limb apraxia, dystonia, mild dementia, and hypometabolism of the temporoparietal association cortex on PET scan. ... Evidence of linkage to D14S52 was found for a subgroup of families of intermediate age of onset, namely, older than 60 but less than 70 years of age. ... The brothers had onset of progressive dementia and ataxia between ages 29 and 32 years; 2 died at age 32 and the other died at age 36.
Alzheimer Disease 10 OMIM

INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Memory impairment - Dementia - Praxis - Speech impairment - Neuroimaging shows cortical atrophy Behavioral Psychiatric Manifestations - Personality changes MISCELLANEOUS - Mean age at onset 66.8 years (range 47-77) ▲ Close
Alzheimer Disease 7 OMIM

Zubenko et al. (2001) described a prospective, longitudinal, double-blind assessment of the age-specific risk of AD encountered by 325 asymptomatic first-degree relatives of AD probands who carried the D10S1423 234-bp allele, the APOE E4 allele (107741), or both, after 11.5 years of systematic follow-up.

Alzheimer's Disease Wikipedia

The hypothesis holds that an amyloid-related mechanism that prunes neuronal connections in the brain in the fast-growth phase of early life may be triggered by ageing-related processes in later life to cause the neuronal withering of Alzheimer's disease. [64] N-APP, a fragment of APP from the peptide's N-terminus , is adjacent to beta-amyloid and is cleaved from APP by one of the same enzymes. N-APP triggers the self-destruct pathway by binding to a neuronal receptor called death receptor 6 (DR6, also known as TNFRSF21 ). [64] DR6 is highly expressed in the human brain regions most affected by Alzheimer's, so it is possible that the N-APP/DR6 pathway might be hijacked in the ageing brain to cause damage. ... A β is a fragment from the larger amyloid precursor protein (APP). APP is a transmembrane protein that penetrates through the neuron's membrane. ... Since the incidence of AD increases with age, it is particularly important to include the mean age of the population of interest. ... These costs will probably increase with the ageing of society, becoming an important social problem .

APP, ACE, TREM2, ADAM10, APOE, PSEN1, GSK3B, HFE, MAPT, PLAU, NPY, BCL2, CASP3, BDNF, IDE, INSR, IL1B, LEP, BACE1, IGF2, IGF1R, ATP5F1A, INS, BAX, CR1, A2M, ABCA7, TOMM40, CD2AP, BIN1, EPHA1, CLU, PICALM, NOS3, PSEN2, APOC1, MPO, SORL1, VSNL1, INPP5D, NECTIN2, MS4A4A, PCDH11X, CASS4, BCHE, MIR146A, CYP46A1, DHCR24, CHRNA7, NCSTN, VEGFA, DPYSL2, PRNP, ESR1, PPARG, RELN, HMOX1, ACHE, CST3, MAOB, TNF, MTHFR, IGF1, CD33, TFAM, IL6, CYP2D6, CRH, SOD2, UNC5C, PLCG2, TF, ABI3, WWOX, SLC30A6, CHRNB2, ARC, PGRMC1, F2, CALM1, EIF2S1, HLA-DRB5, ENO1, TPI1, IGF2R, SLC30A4, MIR296, SLC2A4, MIR100, IQCK, MIR375, AMFR, SNAR-I, ADAMTS1, MAPK14, PIN1, PYY, PTGS2, S100B, PPARGC1A, NOS2, NGFR, NGF, NFE2L2, SOD1, SYP, CDK5, NGB, MIR505, GAPDHS, MME, MAP2, CTNNB1, TPP1, LRP1, IRS1, CHAT, GAPDH, MIR4467, MIR3622B, AGER, MIR766, MIR708, CAV1, NTRK2, PTGS1, APLP2, ADAM17, MFN2, DNM1, HSF1, GSR, IL33, CCR5, HSPD1, HSPB1, CIB1, CASP8, IKBKB, SERPINF1, ATP7A, MT2A, ADAM9, INS-IGF2, BCL2L2, CASP9, GAB2, PTK2B, PLCB1, ABCA1, GRN, CASP12, SQSTM1, FERMT2, HLA-DRB1, NFIC, CSF1R, APOB, MARK4, HSPG2, MS4A6A, CELF1, VCP, SYNJ1, ZCWPW1, MS4A4E, APH1B, APOC2, F13A1, EXOC3L2, PLXNA4, ADAMTS4, AKAP9, MADD, DST, PILRA, FRMD4A, LAMP1, SLC24A4, GLIS3, SPON1, CADPS2, IL34, COL18A1, TRIP4, SPI1, TGFB2, BCL3, MTHFD1L, AICDA, IL6R, DCHS2, MEGF10, SLC16A7, EPHX2, NDUFAF6, DSG2, OSBPL6, CELF2, UBE2L3, SPPL2A, MAPK7, CDH13, LAMA1, SGK1, SUCLG2, LUZP2, PTPRG, ST6GAL1, AP2A2, RBFOX1, SORCS3, TSPOAP1-AS1, TLN2, ZAP70, ALDH1A2, TCF7L2, FMN2, OTOF, EXOC4, HSD17B10, DNM1L, ALOX5, GULOP, HTR2A, AHCYL1, SDR42E2, HTR6, GTF2H1, GRM5, IAPP, AHSA1, STAG3, ALB, FARP1, TSHZ1, HRES1, AGFG2, DCAF7, SIGMAR1, BCKDK, RTN3, TPPP, HSPA4, HCLS1, HSP90AA1, G3BP1, PGAM5P1, BACE1-AS, KHDRBS1, ALDH2, CFH, HCRT, GPC6, ABCA8, GLP1R, NR3C1, TNRC6A, IL19, PARVB, DDX25, BZW2, FCN2, FGF10, GOLIM4, LINC00476, HPGDS, FANCD2, PDE7B, SIGLEC7, TSPAN16, TRPC4AP, POLDIP2, CNTNAP2, RNF19A, BACE2, UBQLN1, ITSN2, GRIN2B, ZGLP1, BCAS3, EPDR1, TMED9, ENO2, CYCS, ANXA1, EPHB2, EPO, RAPGEF6, APH1A, LARS1, EYA4, SNX9, ESR2, WAC, SLC8A1-AS1, DCTN4, RMDN1, QPCT, MTOR, SGK3, FBXL7, SZT2, GIP, ACSL6, WWC1, CLEC16A, KAZN, LINC01672, PRRC2C, COLGALT2, PLD3, HECW1, ZNF292, MYO16, DKK1, SIRT2, ACOT7, PSIP1, CLASRP, LINC00271, SIRT3, SIRT1, GFAP, NUP62, FYN, CBLC, INHCAP, TRIM51CP, GABPA, GABRA2, GABRG3, DAPK2, SMUG1, GAP43, GATA1, GCG, GCHFR, TARDBP, NCS1, GDNF, HDAC6, RAB3D, MVP, OGG1, LINC02268, LINC02325, SOAT1, ACTG2, ACTG1, SNCG, SNCA, SNCB, SNAP25, NOS1, ACTB, MEF2C-AS1, SLC6A4, NPC1, SLC6A3, GEMIN7-AS1, SLC1A2, LINC01508, LINC01725, NEFL, COX2, TNFRSF1B, STAG3L5P, TLR4, TLR2, MSH2, THY1, MT3, TH, SST, STAG3L5P-PVRIG2P-PILRB, TGFB1, TFF1, RNR2, LINC02653, LINC01712, TCF3, NRGN, CX3CL1, ELMO1, CCL2, PIK3CG, ABCA2, PLA2G1B, EIF2AK2, SERPINA3, PLG, MAPK8, MAPK1, PRKCB, PRKCA, PRKAB1, PRKAA2, PRKAA1, PMS2P1, POLD1, PTPA, PON1, PIK3CD, PIK3CB, PIK3CA, MOK, UPK3B, SORT1, ROS1, SERPINE1, REST, REN, RELB, RAC1, LINC01965, PVR, PVALB, PTPRA, LINC00972, ABCB1, LINC02008, MTCO2P12, TP53, OVCH1-AS1, MOBP, MNAT1, SLC4A8, AGT, INSIG1, AZIN1-AS1, EIF3E, FHL5, IRF2, GSTO1, ITM2B, GRAP2, LIPG, ADIPOQ, KL, MSC, LRAT, AP4M1, CCRL2, IL18, IL17A, IL12A, ST18, IFNG, ARL17B, AKT1, AIF1, KRBOX1, IGFALS, HDAC9, PHF14, IL10, IL1A, ALOX12-AS1, MICAL2, IL2RB, IL4, CLOCK, CXCL8, KCNN2, MPZL1, HERC2, VDR, TFEB, MAOA, COX10-AS1, ZNF232, YWHAZ, VLDLR, PARP1, UTRN, BCAM, UCHL1, UBB, TYROBP, AFF1, TTR, TRPM1, MMP9, AIMP2, LTBP2, KNG1, CRADD, CACNA1G, LAMC2, RPSA, CDK5R1, SUCLA2, LCN2, LDLR, BECN1, LPL, PDE5A, ABCB11, APOC4-APOC2, KHSRP, DENR, AGPS, LPA, CDKAL1, PPARA, MEIKIN, COL4A4, CRK, CEACAM22P, SCIMP, CREB1, CR1L, ZNF862, SH2D4B, CP, PNPLA7, SIMC1, GGACT, COMT, COL12A1, FAM181A, BRCA2, PPP1R37, GPR141, TENM3-AS1, CNR2, L3MBTL4, UBXN11, ACKR2, TMEM132C, CASTOR3, CLPTM1, STRADA, FNIP1, CDCA5, NLRP3, APOA1, CRMP1, KAT8, CSMD1, CLMN, PINK1, CYP8B1, AHNAK, MIR132, MIR107, CUX1, POTEM, PPP1R3B, FAS, SAP30L, ANKRD55, CTSD, CTSB, GEMIN7, EHMT1, LINC01184, CTNNA2, LINC01185, TMC5, THSD4, CCDC134, SP6, LINC01567, PDCD1LG2, SETD7, APOD, BHMG1, CSF2, HYI, BLOC1S3, TSPO, CHRNA4, CHRNA2, TAS2R62P, C3orf67, C9orf72, CCDC83, CCDC89, KDM1B, CD14, TGM6, ATXN7L1, RSPO4, ADGRF2, STH, TAS2R64P, CALHM1, RUNX1T1, PPP1R42, ALPK2, PCSK9, CAT, ANKRD31, CASP6, NKAIN3, TRIQK, CALB1, STEAP1B, CASP1, EPHA1-AS1, CAPN1, APOC4, FAM181A-AS1, NKPD1, SPRED2, CD36, SCARB1, PLPP4, MED12L, ARAP2, CHN2, CHI3L1, ACTBL2, C10orf71, MCIDAS, LRRK2, AKR1C4, ANO4, AGBL1, CEACAM20, ZNF813, RMDN3, CETP, CDR1, LINC00343, TCAM1P, APOC1P1, IGSF23, RMDN2, CDK1, SLC25A48, NKAIN2, FSIP1, CD68, BMPER, C3, CD40, CYP19A1, CRP, NIT2, ANO3, DLG4, ARHGAP20, RCAN1, WDR41, NDUFA12, STK32B, EDEM2, DSCAML1, RNF165, SH3RF1, DYRK1A, MIR29A, SYBU, AQP4, APBB1, DLX5, DBN1, PALM2AKAP2, CEACAM19, DPP4, IL6-AS1, ARVCF, CDC42SE2, DMXL1, TULP4, DAPK1, PMS2CL, POTEKP, MIR34A, VAT1L, OLR1, HDAC2, LRP8, GSN, CCL11, S100A9, COL25A1, POTEF, KLK6, BLMH, HSD17B7, P2RX7, COX8A, ABCB6, PRRT2, IL2, SORCS1, NR1I2, MAPK3, ITGAM, CASR, ATP7B, VDAC1, EGR1, PDE4A, RAB5A, SUMO1, NRG1, OXER1, NTRK1, TFCP2, ANK1, CSNK1D, DLST, APLP1, BLVRA, NFIB, IL1RN, HTT, ACAT1, PLA2G4A, NFIX, NLRP1, GPRC6A, HMGCR, PPID, LPAR3, FZD4, REG1A, MRGPRX1, LRP2, DBH, PSENEN, VPS35, ESCO1, HSD11B1, VN1R17P, SOX2, AGTR1, XBP1, MIR155, MRGPRX4, MRGPRX3, GAL, GPR151, IL13, PAEP, OGDH, GPR166P, STAT3, SET, NFIA, PLB1, AR, LGR6, DHRS11, ABCG2, C4A, KCNIP3, HSD17B13, ABCG1, TTBK1, NOTCH1, EIF2AK3, SLCO6A1, CHMP2B, RBM45, CD44, RIPK1, APBA1, GSTK1, ADNP, ICAM1, BRCA1, APCS, TNFRSF1A, NFKB1, CNTF, MMP3, KLC1, LBP, CTNNA3, SGSM3, FGF2, C4B, HIF1A, CREBBP, SERPINA1, TMEM106B, GRIA1, GRIA2, ECE1, C4B_2, GSAP, OGA, TFRC, PLA2G6, ST3GAL4, PAWR, MFAP1, KAT5, GSTM1, APRT, COX1, HP, NTF3, MIR206, FPR2, CDC42, FUS, MARK1, FGF1, PREP, C5AR1, PON2, MIR29C, CALB2, PDIK1L, SYK, S100A1, CH25H, SREBF2, COX5A, GRIN2A, VCAM1, TMED10, GSTP1, KLK8, PHF1, CXCL10, MEFV, SP1, GJA1, IGFBP3, SLC17A7, CYP3A4, FOXO3, HMGA1, SLC11A2, XPR1, MARK2, PPIF, CRHR1, SHANK3, MYC, CD40LG, CPOX, FKBP5, ANPEP, CAST, C1D, FKBP4, HSPA1A, FLT1, MIF, PLA2G2A, CX3CR1, CSF3, IFNB1, KALRN, PLTP, STXBP3, DDR1, PWAR1, PRDX2, TP63, VIM, IL23A, F2RL3, MMP14, MEF2C, TREM1, TMED10P1, NAT2, MIR342, SAMD9, RAB7A, PGR-AS1, TRPM2, EGFR, ADRB2, CLDN5, ETS2, SYT1, TIMP1, NME8, ELANE, F2R, CD59, EPHA4, CBS, MSMB, APLN, MMP2, MYCL, CALML5, SYN1, XRCC1, TGM2, EEF2, PLA2G7, ELAVL2, EDN1, TMEM97, HMGB1, MIR455, HTRA1, BPIFA2, SLC52A2, NQO1, TUBA1B, FOS, CRYAB, SLC2A1, GPR3, LGMN, SLC2A3, RIDA, FN1, ABCA4, HSPA1B, PECAM1, PTEN, HSPA8, HLA-A, PTPN1, HAMP, TXNIP, GRM2, P4HB, LIN28A, PSPH, GSTT1, CCN2, DECR1, CPLX1, BCYRN1, NES, POU5F1P4, MIR21, GRK5, POU5F1, NTSR1, MIR212, PRKN, LINC02210-CRHR1, HSPA5, DLD, DAB1, HTRA2, POU5F1P3, MIR137, DNAH8, MAPK10, GH1, SERPING1, ADAMTS2, EEF2K, GSTO2, ROCK2, NEDD9, SPTBN1, NTN1, CEBPD, GDF2, CEBPB, PWAR4, SYNM, IGFBP2, GLUL, ABCC9, ATM, PSPN, PTPRC, MIR29B1, RANBP9, NDRG2, CNR1, RTN4R, PTBP1, AQP1, PDK1, MIR106B, PDE4D, ARNTL, PRDX1, ADM, RENBP, POMC, PTPN4, MS, PDGFRB, P2RY2, MIR142, PDE9A, SSTR4, KLK3, BCL2A1, C2, SRPK2, NFATC2, ADCYAP1, LRRTM3, PLD1, NUBP1, MIR424, ATF4, BSG, MIR29B2, PPY, BMP4, TBP, SLC18A3, POLB, NOTCH3, SLC18A2, NPTX2, MTR, SI, MIR222, SH3GL2, ND2, NR4A2, SELENOP, CXCL12, CCL5, ATXN1, CALM3, ITGAX, IFNA13, DISC1, OPTN, HTR1F, HTR4, WNT3A, COL11A2, C20orf181, IFNA1, KEAP1, HDAC4, KLK4, SEMA6A, LRRC4, CRTC1, IL9, DAO, ALOX15, AGTR2, IDO1, SLC25A27, ABCG4, CD55, APOA4, MCOLN1, REM1, ATCAY, EBPL, HSPB2, HSPA9, PLK2, GAD1, NANOG, DCX, COASY, UBE2K, DDIT3, TREML2, APBB2, MAP1LC3B, SRRM2, GZMB, FXN, HNRNPA1, HPSE, RAB10, CIP2A, FOLH1, STIM2, DIO2, MMP24, CEBPZ, GBA, CDR2, ITPR3, CDKN2A, MELTF, SLC30A3, ADRA2B, FTO, FNDC5, GGA3, XPNPEP1, VGF, NR1H2, UGCG, MFGE8, MGAT3, CXCR4, TLR9, APOC3, GPT, ELK3, NEAT1, ADORA2A, MMEL1, TRPC6, EIF4E, CAMK2A, MS4A6E, SRR, HSPA14, IRS2, MGAM, C1orf52, HDAC3, PABPC4, ACKR3, LGALS3, FAM20C, WNK1, DRD4, CYP2C9, MBTPS1, DRD1, LRP6, GRK2, CYP2B6, OGT, LIPA, AD11, GORASP1, PTGDS, SPEN, MIR200B, NPTXR, DNMBP, MIR200A, NCOA6, MIR181C, RBP4, RELA, OPN1LW, EFHD2, MIR188, TPH1, HNRNPA1P10, CTNNBL1, SLC40A1, PNO1, CHCHD2, SDF4, RETN, GOLM1, PPP3R1, PYCARD, PAG1, CCR2, DDIT4, RCBTB1, SBNO1, PPARD, CD274, PCBP4, ACE2, PROS1, PRND, PPP1R15A, CIZ1, MIR26B, TPSG1, GGA1, CFAP97, MAP2K1, AATF, SHANK2, PRL, RBMS3, LOC107987479, MAP2K2, PAXIP1, CHCHD10, SBNO2, PTGES, SPHK1, LPAR2, PPIG, NRXN3, MED23, SPP1, MAPK8IP1, BAG3, APBA3, TAP2, PRDX6, CARTPT, SNAP91, SV2A, MALAT1, MAK16, SYVN1, GDF11, TAC1, TAT, SLC6A2, TRPV1, CISD3, TPT1, TSC2, TM7SF2, TXN, UBE2I, TLE1, TIMP2, XK, CNTN2, TGFBR2, YY1, GOLGA6A, ANP32A, TAM, TERT, DCP1B, TNFSF10, PPP1R1B, GPHN, RGS2, ADAM30, SAA1, METAP2, IMMT, SDS, ADAP1, RYR3, ECHDC3, RYR2, RXRA, SCD, RPS6KB1, CIT, RPS6, CTXN3, LMTK2, NLGN1, ROCK1, RGS4, ATXN2, SRL, STUB1, SHBG, LILRB2, AKR1A1, OLFM1, SKIL, SLC9A6, CREB3, PITRM1, SCGN, CXCR6, OCM, RIN3, SGCA, SFPQ, NCKAP1, CPLX2, TP73, EDAR, CCL3, NPS, BEST1, HPS1, CXCL1, GLO1, LIF, CDH1, LHCGR, CDK4, PCNA, PCK1, L1CAM, GPR42, GPX1, GRB2, ANGPT1, ANGPT2, CETN1, MYD88, GLB1, AKT2, LMNA, DNMT3B, TSC22D3, CD38, PER1, CD69, DRD3, LOX, CD74, LMNB1, DNM2, GAS6, AVP, GC, DMRT1, SARDH, GRIN1, ANXA5, BACH1, P2RY1, INPPL1, CSF1, CS, NEFM, NTS, APEX1, STS, HTC2, NEUROD1, NPTX1, NPPA, ATF2, HTR2C, ARRB2, IGFBP7, HMGCS2, CLK1, CKB, APBA2, CYP17A1, GSTM3, CHGA, CYBB, JUN, CTSS, ORM1, ITPR1, CHRM1, CHRM2, OPRK1, OPRD1, CTRL, HK1, ADRB1, LAMP2, CASP2, EDNRA, PLD2, CAPN2, F2RL1, ACO1, ERBB4, FAT1, FGFR3, CALM2, BRS3, CALCA, CAD, EGF, CASP4, FCGR3B, FDPS, LYZ, FCGR3A, FLNA, MECP2, FABP3, ADRA1A, PLXNA2, MBP, FAAH, ENPEP, F12, BAG1, MEOX2, HOMER1, ITGB2, DBA2, ITGAL, ITGB1, AIM2, AZIN2, CD80, ITIH4, CD46, VIP, CHRNA3, ATG5, TREML1, MCL1, GPRASP2, VWF, APOA5, TMEM119, KLF4, SOCS6, WNT1, XBP1P1, FOXQ1, C3AR1, OPN4, USF1, C1QA, CXCR2, VPS26A, MOGAT3, CCR3, IL6ST, IL5, IL1RAP, LMF2, IL1R1, CREB3L1, UNG, MCU, CLSTN3, SNPH, IL9R, NPEPPS, NAPSA, USF2, MEF2A, ING1, CGB8, FTMT, CHM, VAV1, IMPA1, C1R, ILK, ADAMTS3, IL16, MAP3K5, IL15, GDF15, CGB5, CA2, KCNB1, TSPOAP1, SMAD2, DPPA2, SGO1, LIG3, IFNL3, TNK1, CP20, APCDD1, HSD17B6, CDKN1A, TTBK2, CDKN1B, SLC2A14, CFLAR, STMN1, LIPC, TAB3, CHIT1, BRAP, SPARCL1, MLKL, PTCRA, CD47, LGR5, CD8A, CCT, NR4A3, USP9X, MSRB3, CDR3, CCK, LNPEP, CASP7, CHRFAM7A, CAMP, PER3, YES1, CGA, MARK3, CGB3, SYNGR1, CALCR, IL1RL1, ARHGEF2, PER2, SLC33A1, TPH2, CHEK1, RAB7B, NOG, MBL2, CFL2, HSPB6, AHSA2P, SLC30A1, CD200R1, SOCS3, KDR, KIF5A, HAP1, CALR, CES1, TRPA1, HSPB3, WASF1, SLC32A1, ARHGEF7, CAMK4, COL3A1, H3P40, SCRN1, PTCD1, SPHK2, ATN1, PPIL2, POU2F1, FOSB, GCA, FLT4, SH2B1, APPL1, DNMT1, FLG, FOXO1, DUSP1, DUSP6, HHAT, HSPB8, E2F1, PLXNA3, DOCK2, PNPLA2, ADI1, GMFB, GPI, GPC1, KIF21B, NMNAT2, TRIB3, ALS2, DLG2, DLG3, GLS, PDSS2, ASTN2, MCF2L, GLI2, KIDINS220, CBLIF, SYNE1, DMD, GGT1, FKBP1A, SIT1, SV2C, GDE1, FOXP3, ASCC1, TMED7, FIS1, PRLH, CRYL1, ADIPOR1, LSR, F11, MBL3P, SIRT6, TRMO, NRN1, LCMT1, PRRX2, ERN1, BIN2, UBR5, HEBP1, GEMIN4, PDCD4, TBK1, SLC25A38, FGF14, PCSK1N, TRPM7, DLL1, FLVCR1, AHI1, SETD2, ELK1, IL22, NCAPH2, ELN, PADI1, BPTF, NRBF2, FABP5, EP300, PLA2G3, GRHL3, CXCR3, NAV3, SIRPB1, FLOT1, MET, KCNMB2, CRISPLD2, ARHGAP24, HNMT, SNX27, NPL, BHLHB9, TRIM13, HMOX2, KLF2, CSNK1E, LPAL2, CPQ, PPP1R2C, RAPGEF3, TET1, CRYZ, SORBS3, CTBP1, BCL2L11, COL17A1, NCAPD2, COX10, UBASH3B, NR1I3, ACOT8, PTPN5, PPP1R9B, TOM1, MINDY4, CPE, HTR7, NR1H3, HTR1B, HTR1A, LRPPRC, PDIA6, RHBDD1, NAA25, HLA-C, TPX2, BCAN, ADAMTS13, MOAP1, TNMD, GRIA3, NEUROD6, CHEK2, PADI2, HRH3, PHB2, SIL1, MGLL, FFAR1, GADD45A, MMRN1, DEFA1, IL21, NLRC4, GPR17, AZI2, HHIP, CTF1, HCRTR2, HLA-B, CTNND2, HHEX, HGF, CTSG, HDAC1, CTCF, DHX40, PTGES3, STIP1, CTSZ, CXADR, CARD14, CYP1A2, PDE10A, LILRB1, EHMT2, PDIA2, UMOD, ANGPT4, MIR339, SYN2, MSD, ACP3, APEH, ST8SIA1, AZU1, PI4KA, NCAM1, MIR144, SMIM10L2B, MSI1, NAP1L1, PRSS3, PEBP1, MASP1, SIM2, TIA1, MIR15B, ATD, RPL29, ABCC1, NCAM2, MIR125A, TLR5, SERPINF2, TNFAIP1, CXADRP1, MAPK9, ZFHX3, GGTLC4P, AD10, SGCG, MIR451A, CDR1-AS, TPTEP2-CSNK1E, MIR384, ITSN1, CBSL, MPZ, NFATC4, PKM, NCL, NTF4, LOC643387, SLC1A3, APOA2, THAS, PSMB6, SERPINB6, PSMB9, RHOA, ARMCX5-GPRASP2, SMPD1, REG3A, ATP4A, MIR193B, RFC1, NOTCH4, SLPI, PGF, AEBP1, MIR214, MIR219A1, SLC19A1, MIR22, PCSK1, ALPP, AMD1, MTNR1A, TGFBR1, COX3, ATP12A, NM, ADD3, PSD, TGM1, ARR3, NPM1, PAK1, TMED7-TICAM2, PNP, MIR195, MTHFD1, ADH1B, AMPH, ND4, AMD1P2, ARG1, SULT2A1, RRAS, PDE7A, TTPA, TYK2, TXNRD1, PPP1R1A, PPP1R10, SPG7, SPAST, RAB4A, PPP2CA, OTC, PPP2R2B, MMP1, ARMS2, RAB3A, GGTLC3, RTL1, P2RX4, ST13, SPARC, ALAS1, PPP3CA, NEFH, SEL1L, TYR, RAB6A, MICB, PPIA, CCL4, BST1, TICAM2, BNIP3, MIR326, OPRL1, PON3, BMP6, OPRM1, AHSG, H3P17, SDC2, AGRN, TYRP1, PPP1CA, BMI1, TYRO3, PNMT, DEFA1B, GGT2, ORI6, SMIM10L2A, CISD2, ARSA, EIF2AK4, PRKAR1A, LRP1-AS, SRSF2, MIR98, MIRLET7B, CD200, PDCD1, RAP1A, GGTLC5P, CCND1, ANXA6, FXYD1, S100A6, NFATC3, PLK1, ABO, PTGER3, APC, S100A12, ASL, HSP90B2P, SETMAR, PRRX1, PZP, STAT1, ODC1, CFB, CDNF, ZBTB4, PARK16, SUGP1, DIO1, SORCS2, MAGEE1, ALDH1A1, MIR1306, DES, DIAPH1, LSM2, MIR1229, XPO5, HCN3, CFD, MIR664A, KIF17, WDR48, MTRNR2L12, PRX, DHFR, EPG5, SEPTIN1, FAS-AS1, RNF213, MIR320E, MIR1908, HECW2, LINC00672, NUFIP2, ABCD1, DLG1, QRFP, ZNF410, AOC2, NBEAL1, CYP11A1, OPN1MW2, AD6, P2RY12, NMNAT1, DEPTOR, TNS3, CYP2D7, FAM72A, NUCKS1, CLEC7A, CYP26A1, ARAP3, GREM2, CDKN2B-AS1, CYP2J2, UBE2Z, MIR1246, TSPY3, MIR632, CTSK, GTDC1, CTSL, MIR650, MIR660, SNORD118, TNFAIP8L2, LYNX1, MUL1, PAGR1, CYLD, MAPKAP1, APOF, PDCL3, CYP2C19, NOC3L, CYP27A1, DPEP2, MFT2, PROK2, HPSE2, AD14, AKR1C2, ALPI, TRPV4, NTN4, PRM3, PDF, JAM2, ALOX5AP, TSPY10, DEFB4A, DEFB4B, ALOX12, PTBP2, DCN, NECAB3, FKBPL, NEUROG2, DGKQ, SLC25A4, MIR873, MIR301B, CENPK, DAXX, GFRA4, GOLPH3, ERVK-6, MTUS1, DBI, MIR937, ANG, ACE3P, SOD2-OT1, ANK3, DRD2, ZNF608, NAT10, DYM, LOC102724334, TRIT1, EIF4G2, TET2, EIF5, SERPINB1, ELAVL4, PDP1, ACO2, THRA1/BTR, UGT1A1, CCHCR1, CPVL, SMOX, TOLLIP, TERF2IP, SNTG1, EMP1, LOC102723407, EIF4EBP1, MIR6845, EIF2S3, ADCY2, NUDT11, EGR2, MSTO1, ADARB1, SLC6A15, ADA, TAPBPL, TESC, MIR6840, ACVRL1, FOCAD, EIF4A1, CASZ1, QRICH1, PGPEP1, EIF4A2, NDE1, ASIC2, CTTN, ACADVL, GSKIP, LNCRNA-ATB, ATP6V1H, H3P7, TDP2, ERBB2, CINP, ZCCHC17, H3P13, DTL, GPRC5B, ERCC1, DCDC2, NAT8B, GULP1, H3P23, ERG, H3P28, H3P11, PPIL1, STIN2-VNTR, NANS, EPHA8, H2BS1, POLE3, ACACA, SLC29A1, FXYD6, LRP1B, CST12P, SIRT1-AS, INPP5K, MSRB1, ARID4B, EPOR, ABL1, AAVS1, NR2F6, ERVK-32, LOC110366354, MNS16A, EFNA5, SLC47A1, ALAD, EEF1A1, SNHG19, MICA, DNTT, SOX21-AS1, DOCK3, DPYSL3, MIR626, XAB2, MFF, DUSP22, ARNTL2, SPPL2B, MCCC1, TMX2-CTNND1, ANKS1B, DPYSL5, FXYD6-FXYD2, BARHL1, DSC1, TWSG1, TLE5, DNASE1, DNA2, OCLN, NLN, AMIGO1, AHR, PLEKHG5, SLC24A3, SPC25, TTC7A, PELI1, JAG1, TMEM159, RTN4, APMAP, CD177, CAMK1D, PLAAT1, NR0B1, TIGAR, P2RX5-TAX1BP3, PARD3, GKN1, ADH6, INAVA, CDK5RAP2, OGDHL, LINC01080, ATF7IP, IPO9, VAC14, DVL1, PPP4R3A, OPN1MW3, EBM, OTUB1, SOX6, SLC30A10, SMPD3, MEG3, PLIN2, FBXW7, TDP1, ADORA1, DSC3, ACSS2, BTNL2, KIAA1217, ZNF253, CFC1, MIR4668, DSG1, APOM, MYO5C, MIR4487, NOTCH2NLC, USE1, SELENOS, GDNF-AS1, DSPP, ADCY10, ADRA2A, ZNF415, LINC-ROR, NARS2, CSF2RB, MIR616, MIR20A, CDC25C, PROM2, ATP6V1E1, IL23R, GLIS1, PM20D1, PHF13, CDH2, ZNF569, MIR191, CDK9, MIR192, PRIMA1, CDKN2D, MIR196A1, OR2AG1, LAYN, PIWIL4, MIR19B1, GPBAR1, CDC25B, GDF7, ZDHHC15, MIR139, CD63, SGMS2, MIR140, TMPRSS6, RHBDL3, AVPR2, MIR15A, CBLL2, MIR186, PRUNE2, AMOTL1, CD81, MIR18A, SLC2A12, CDA, MIR181A2, ATP5PO, SESN3, ATP6V1B2, UBR1, ATP5PF, PPME1, MIR224, LYZL4, KCNH8, MTERF4, MIR23A, CPO, ACMSD, MIR23B, BHLHE23, MIR25, CFL1, OSCAR, SPNS2, SEZ6, SLC38A10, MSI2, CFTR, MIR27A, MIR223, ALDH7A1, MIR221, SELENOM, ATP5MC2, CACUL1, HECTD2, SREK1, CTCFL, CBLN4, CDSN, ATP5MC1, DEFB104A, OCIAD2, MAGEC3, MIR210, CEACAM5, CECR, PPARGC1B, ATP5F1B, IL31RA, GNPDA2, SCARB2, NSMCE1, SOCS4, UBE2L1, BNC1, CACNA1C, SLC25A20, SERPINA13P, BLM, SREK1IP1, MIF-AS1, C20orf203, SYPL2, ZNF763, CCL4L1, BID, BGN, ZSCAN1, ZADH2, SMIM20, MILR1, PGP, GOLGA6L2, TMEM189-UBE2V1, TMEM189, IL31, C4BPA, BTK, AMIGO2, HCN1, NHLRC2, ATP9B, SBSN, BMP1, OSTN, C5, CFAP410, BARHL2, NANOS3, C9, STING1, GADL1, ARMH1, VPS51, HCAR2, CAPG, LINC00639, TMEM201, LIN28B, CD5L, MIR127, CD19, KIF6, MS4A1, MS4A3, HYLS1, STOX1, FOLH1B, OR8J1, TRIML2, CD28, KHDRBS2, GAPT, CENPV, KLHDC8B, MIR134, CD86, PIKFYVE, SLC29A4, CCNC, KRIT1, PTF1A, DAOA-AS1, BDKRB2, HCA1, BRD3OS, ASPM, BCS1L, SGMS1, BCR, MIRLET7D, MIR122, RUNX1, ANKK1, BCL6, PHYHD1, BAK1, MIR10A, EBF3, CCKAR, MIR28, FRMD6, MIR613, ADAMTS10, TMEM175, XIAP, MAF1, BIRC3, SLA2, ANTXR1, ASCC2, CRHBP, EVA1A, QRFPR, MAGT1, NCALD, LOC646506, ROPN1L, L3MBTL2, GMNC, SCFV, CSE1L, RNF146, PHF6, HOOK3, BRSK1, MBOAT4, COX15, MIR497, MFSD2A, MIR501, ACCS, ARG2, FAM126A, CPB1, CPN1, ECSCR, MAP1LC3A, MIR484, AQP9, CPS1, SNORD35B, CPT1A, ABLIM2, FASLG, NETO1, DOCK8, RNFT2, C1QBP, TM2D3, ASRGL1, PTGES2, PANK2, MIR590, SCD5, CSNK2A1, VCAN, ZC3H14, CSPG4, CTBS, MIR592, MIR598, CAMKMT, CTNS, SLTM, PTCD2, CTNND1, MIR603, NUBPL, WDR26, SPHKAP, GSTT2B, TMEM163, NCF1, LBH, SPAG11A, SFTPA1, CSF3R, ZNF436, CSN2, NDFIP1, MIR545, SLC44A4, SLC19A3, FAM72B, AIRE, IQCJ, CSNK1G2, DNAJC5, CSNK1G3, LINGO1, ATG4C, ATP2B4, MIR346, SERPINC1, CISH, ASPA, CLC, UCN3, TMEM54, ASS1P1, CLCN3, NACC1, ASIP, STX1B, IFT43, MIR133B, MIR151A, CLK2, TP53INP1, MIR330, MIR335, MIR338, MIR93, SLC26A7, OMA1, CHGB, PLD4, TDRD9, CHD1, MIR299, ATIC, ATHS, H4-16, LRIG3, EXOSC6, CHRM3, MIR30B, MIR30E, AGAP2, MIR31, MIR34C, MIR9-1, GRIN3B, GRIN3A, ASAH1, MIR369, H2BC12, KPRP, LRSAM1, MIR429, H4C15, SHF, GADD45GIP1, COL11A1, ZNF628, MIR431, HNP1, NAV2, MIR409, SLC31A1, RPPH1, SNORD14E, SNORD14D, SNORD14C, SNORD14B, COX6B1, MIR485, CNTN1, DNM1P33, CNTFR, CHRDL1, CLN3, MIR361, MYOCD, PRDM6, DNER, SPECC1, MIR377, CLN5, EXOC3L4, CNP, MIR425, ARRB1, ZNF804A, BDNF-AS, NLRP12, CCR6, ABCC2, DEFB104B, LRRC15, POU3F4, HOOK1, TERC, NAT1, MCM2, EZR, MDH1, VEGFC, MDH2, MDM4, MEF2D, UVRAG, UROD, UQCRC1, UGT1A, SLC35A2, UCP2, UBTF, UBP1, MID1, UBE3A, UBE2V1, CXCL9, ATXN3, UBE2D2, UBE2A, UBC, MAP3K10, MC1R, WARS1, WAS, ZMYM2, MANF, SCG2, FZD5, SMAD7, MAG, MAP3K12, MAP1A, MAP1B, ZNF236, ZNF224, ZNF217, RNF112, WEE1, MZF1, ZIC1, MARS1, MAS1, MAT1A, MAT2A, MAZ, XIST, WT1, WNT2B, WNT5A, UBA52, KMT2A, MLLT3, THBS1, TLR3, TLE3, MSH3, TKT, TIMP4, TIMP3, MSR1, MSRA, THRA, THOP1, THBS4, CYTB, MRE11, NUDT1, TGFBI, TGFB3, ND1, TFF3, TFDP1, MTNR1B, MTRR, TRNL1, MUC1, TERF2, TSPAN7, MRC1, TWIST1, TRAF2, TUBA4A, NR3C2, TTN, TSPY1, TSHR, TSG101, TSC1, MMP7, MMP8, TRPC1, TRH, NR2C2, TNFAIP6, MMP13, TPM1, MOG, MOV10, TP53BP2, TP53BP1, MPG, TNR, TNNI3, MPI, MPST, SLBP, REEP5, DEK, SNX3, TNFRSF6B, RAB11A, LDHA, LEPR, LGALS4, LGALS9, GPAA1, RNMT, GBF1, ADAM19, URI1, TRADD, LCK, B3GALT4, LIFR, LIG1, SOCS1, NUMB, LIMS1, AOC3, PDE8B, USO1, TNFSF11, STK16, LCT, CES2, KMO, KLRC1, BRSK2, KCNQ1, KIR2DL2, NOL3, ATP6V0E1, SELENBP1, USP13, KLKB1, CDK5R2, RAB29, MBD2, KIF11, TMEM11, ENDOU, EIF2S2, TAX1BP1, NAE1, KRT14, KRT18, LAMC1, LBR, PROM1, LCAT, SOCS2, PRKRA, DEGS1, DDX39B, PABPN1, EOMES, BAP1, LTF, H4C9, COLQ, DYSF, CHAF1B, LYN, NRIP1, COIL, SLC7A5, AD5, H4C1, FGF23, ADAM12, BRD3, PSCA, ARHGEF5, TFPI2, FZD3, GHS, M6PR, MARCKS, SMAD1, LTC4S, H4C4, BHLHE40, IRS4, MAPKAPK5, LMO4, LOXL1, CST7, DDO, DGKZ, GAS7, PIK3R3, PKP4, PPFIA1, LRPAP1, SORBS2, H4C6, CUL4A, GNPAT, LTB, H4C14, H4C13, H4C5, H4C2, H4C8, H4C3, H4C11, H4C12, TERF1, MUC4, KCNMA1, TDO2, PCP4, CDK18, RBM3, RBL2, RBBP6, RB1, RASGRF1, RASA1, RARRES2, RAN, RAF1, RAD52, PCYT1A, RAD23B, RAC2, PDB1, RAB27B, RAB27A, PDC, PDE2A, PURA, PDGFB, ENPP2, PDYN, PTPN13, PC, PAX6, PARN, RPL15, P2RX1, S100A8, P2RX3, P2RX5, P2RY4, RREB1, RPS23, RPS21, RPS6KB2, P2RY6, RPS3A, RPL13, RET, RPA1, PAFAH1B2, RORA, ROM1, SNORD15A, BRD2, RNASE1, RHO, RHD, PAK3, TRIM27, PTPN11, PENK, PTN, PMM2, PLAUR, PLCL1, PLEK, PRKCE, PRKCD, PLP1, PRKAR1B, PRKACB, PRKACA, PLXNB1, PML, PRG2, PLAT, PMP22, PRB1, PPT1, PPP2R5E, POLG, PPP2R1A, PPP1CB, PPL, PPIC, PPIB, POR, MAP2K3, PLAG1, PFDN5, PSMD2, PFKFB3, PTGER2, PTGER1, PGD, PTGDR, PTCH1, PGR, PHB, PSMD9, PSMD7, PSMD3, PSMB2, PITX2, SERPINE2, SERPINI1, KLK10, PIK3C3, PIK3R1, KLK7, PIK3R2, PRS, PROS2P, PIN4, PROC, S100A10, OXT, OXA1L, SQLE, STAR, ST14, ST2, NDUFA6, SSTR3, SSTR2, NDUFA9, NDUFB8, SRM, SRF, NEDD4, SEPTIN2, STC1, SP4, NEU1, SOX5, SOX3, SOS2, SOS1, SOD3, NFE2L1, NFKB2, SNRPG, SNRNP70, NDUFA5, STIM1, NME1, MYH9, TRBV20OR9-2, TCP1, TCN2, MMUT, MUTYH, TCF4, ELOC, TBX2, MX1, MYH6, TARBP2, MAP3K7, STK11, MYO6, TACR2, NACA, VAMP2, VAMP1, SURF1, ABCC8, SUOX, NDP, STXBP1, STX1A, NINJ2, NME2, SAA2, OMP, SFTPC, TRA2B, SRSF6, SRSF5, SRSF3, SRSF1, SFRP1, OCA2, MAP2K4, ODF1, SELE, OPA1, OAS3, CXCL11, CCL21, CCL20, CCL19, CCL8, CCL1, SCP2, SCN1A, ORM2, OSM, TSPAN31, OAT, SGSH, SUMO2, SLC8A3, SMPD2, SLN, SLIT3, SLC22A5, SLC22A2, NQO2, SLC18A1, SLC16A1, SLC12A3, SLC11A1, SLC10A2, SLC8A1, NUP98, SLC6A12, NPHP1, SLC6A1, SLC5A2, NRCAM, NRDC, SLC1A1, NRF1, PMEL, YBX1, NT5E, NAT8, SEMA5A, ESRRA, RAB31, MACF1, HEY2, BRD4, TRAM1, CBX5, ANGPTL2, OPN1MW, GRIP1, KCNH4, MSTN, GFER, GFRA1, SIRT5, COTL1, GFRA3, GHR, ZNF629, UBR4, GHSR, WASHC4, GLI1, NUP160, CLUH, GLI3, SCFD1, KCTD2, CLCF1, SEC14L2, NR5A1, SLC24A2, PRPF6, TFIP11, MAFF, EID1, RAB38, FSHR, TMEFF2, PLA2G15, SLC7A11, FTH1, SNHG1, TSPAN15, GAST, ACKR1, G6PD, GAB1, NTSR2, GABBR1, GAD2, GALNS, DDAH1, PADI4, GART, NBEAL2, GMPR, PLEKHM2, WDHD1, GPR39, CARD8, ARHGEF15, AAK1, SYNPO, GPX4, ECD, PARK7, KLF8, TREX1, WIF1, WDR45, ATF6, CORO1A, TBC1D8, SLC7A9, GRIA4, FAF1, GRIK4, RER1, GRM1, STMN2, RAPGEF4, ADRM1, MSRB2, RAB3GAP1, GNA12, ZNF423, ATG4B, UBXN4, RCOR1, SEPTIN8, STAB1, GNAI1, MAPK8IP3, GRAMD4, GNB3, NFASC, KIF1B, GOLGA2, GPER1, SETX, GOLGA4, PDZD2, SAMD4A, KDM1A, GPM6A, RAB21, GPR6, P2RX2, GPR20, SNW1, FRK, FBXO7, BRI3, SNX12, SOCS7, CD209, FABP6, TBX21, NOP53, FABP7, SLC2A8, UBQLN2, A1CF, PSAT1, FANCG, HOOK2, DELEC1, FASN, SNX8, NPC1L1, BLNK, MS4A2, FCGR1A, FCGR2A, MYLIP, SCG3, DROSHA, TMEM230, NOX4, PCA3, SPCS1, VRK3, ETFA, SLC25A37, TLR8, SLC22A17, ECSIT, CD320, EZH2, DNAJC27, CLEC1B, NT5C3A, MZB1, F2RL2, HP1BP3, F3, F9, IRAK4, SAR1B, UTP11, F13B, SH3GLB1, SIDT2, SHANK1, TRAT1, F11R, RGCC, TMEM176B, NOCT, FBXO2, NPTN, TPK1, VCX, GREM1, FKBP1AP2, FKBP1AP3, AGO1, SEZ6L2, FKBP1AP4, FGF21, CLDN17, NOC2L, SND1, FOXM1, EPC2, ATRNL1, LRP10, FLNB, FMR1, POU2F3, TXN2, FBXL2, FOLR1, FOLR2, FKBP1AP1, B3GAT1, IGHV1-68, TNFRSF21, FEB1, FES, FGF9, RABGEF1, PRPF19, FGF13, FGFR1, FGFR4, PDLIM3, RND1, KLHL20, COQ2, CACYBP, HCAR1, FHL2, VPS4A, IL37, GLS2, NAAA, CYTH4, DKK2, DKK3, BBC3, SDCBP2, GRM3, IL24, SPAG9, CXCL2, PCLAF, IGFBP1, ACAP1, IGFBP5, SART3, KDM4A, IGHG3, SDC3, SH3PXD2A, RGS6, SNCAIP, TCL1B, IL4R, IL7, BCAR1, CCL4L2, CXCR1, BAG2, IL12B, BAG5, TMEM59, TBPL1, GAL3ST1, AKAP5, STX8, PIEZO1, BMS1, PTDSS1, IDH1, SH2D3C, GNE, SH2B3, IRF8, SRA1, TANK, KCNE3, HNRNPDL, CCS, NUP153, MED12, HS3ST1, TOMM20, RBM8A, IDH2, CFI, SV2B, TECPR2, IFI27, TOMM70, KIAA0319, IFIT3, IFNAR1, IGBP1, INSRR, PCYT1B, IL27RA, CCNE2, NOLC1, TIAF1, JUND, ZMYM3, KCNC4, KCNJ13, HGS, SYNGR3, ATG12, CBFA2T2, RABEP1, P2RX6, RAB11B, SLC16A3, SLC16A4, ATP6V0D1, RGN, USP10, USP2, USP14, DNAJA3, CLDN1, CLDN8, ARTN, JUNB, GPR50, PICK1, ITPKB, IRAK1, HOMER2, IREB2, IRF3, IRF6, IRF7, ITGAV, CYP7B1, ITGB3, NRXN1, SLC22A8, ITPR2, AIMP1, JAG2, ITGBL1, LHX2, SLIT2, TAOK2, CD163, JAK2, GPR37L1, PIWIL1, MAPKAPK2, PDLIM7, IARS1, TNC, IL18BP, CCT2, HCK, NRG3, USP39, DCTN6, CD226, HDC, HDLBP, CAMKK2, HIP1, TXNRD2, NPC2, SLC35A1, HBG2, PRDX4, ZNRD2, HYOU1, HLA-DQA1, SEMA4D, HLA-DQB1, NXF1, HLA-DRA, ATP5PD, COG5, GPNMB, CHL1, HAS3, FAM3C, GYPA, GSK3A, COPS5, GSM1, GSTM2, EBNA1BP2, PRSS21, PRDX3, GSTZ1, GTS, GUSB, C1QL1, GYPB, HAS1, GYPC, CCL27, ALDH1L1, GYPE, HAGH, WASF3, HSPH1, GJB6, HARS1, ARPP19, DHS, HLA-DRB4, HLA-G, PQBP1, MPHOSPH6, STAM2, GLYAT, HOXA@, RABEPK, HPCA, CALCOCO2, HRC, OLIG2, DDX39A, TOPORS, EIF1, HSD17B1, RAMP2, WASF2, HSD17B4, HSPA2, HSP90AB1, DNAJB1, NAMPT, BCAP31, CTDSP2, TSPAN3, ACTR2, CERT1, ABCC4, HNRNPK, HMBS, NPM3, CFDP1, PRMT5, HMGB2, YAP1, IFITM3, SPAG11B, PEMT, RACK1, SYCP2, TUBB4B, SEMA3A, WARS2, HNRNPC, FOXA1, CCL26, TLR6, FOXA2, LAMC3, LANCL1, HNF4A, TCIRG1, APBB3, APC2, HNRNPA2B1, MTCH2

Problematic Smartphone Use Wikipedia

The recommendations are: For children in age less than one year: 30 minute physical activity, 0 hours screen time and 14 – 17 hours of sleep time per day. For children in age 1 year: 180 minutes physical activity, 0 hours screen time, 11–14 hours of sleep time per day. For children in age 2 year: 180 minutes physical activity, 1 hour screen time, 11–14 hours of sleep time per day. ... In Android a similar feature called "digital wellbeing" has been implemented to keep track of cell phone usage. [85] These apps usually work by doing one of two things: increasing awareness by sending user usage summaries, or notifying the user when he/she has exceeded some user-defined time-limit for each app or app category. ... The researchers implement an Android app that combined these three intervention types and found that users reduced their time with the apps they feel are a poor use of time by 21% while their use of the apps they feel are a good use of time remained unchanged. [86] AppDetox allows users to define rules that limit their usage of specific apps. [87] PreventDark detects and prevents problematic usage of smartphones in the dark. [88] Using vibrations instead of notifications to limit app usage has also been found to be effective. [89] Further, researchers have found group-based interventions that rely on users sharing their limiting behaviors with others to be effective. [90] Bans on mobile phone use [ edit ] See also: Mobile phone use in schools In some places in the world the use of mobile phones was banned in classes during instructional time, for example, in France , Ontario .

Angioedema Induced By Ace Inhibitors, Susceptibility To OMIM

Clinical Features Blais et al. (1999) and Adam et al. (2002) reported significantly lower plasma aminopeptidase P (APP) activities in patients with a history of AEACEI. ... Measured genotype analysis strongly suggested that the linkage signal for APP activity at this locus was accounted for predominantly by the SNP association. ... There was a significant association between the -2399A allele and decreased serum APP activity in both men and women, but the APP activity was lower in men regardless of genotype. ... This haplotype was associated with decreased plasma APP activity and decreased luciferase gene expression compared to other haplotypes of these SNPs. Cilia La Corte et al. (2011) concluded that the ATG haplotype of XPNPEP2 is functional and contributes to the development of ACEi-angioedema through a reduction in APP activity.

SERPING1, KNG1, ACE, AGT

Acquired Angioedema GARD

Acquired angioedema (AAE) is a rare disorder that causes recurrent episodes of swelling (edema) of the face or body, lasting several days. People with AAE may have swelling of the face, lips, tongue, limbs, or genitals. People with AAE can have edema of the lining of the digestive tract, which can cause abdominal pain and nausea, as well as edema of the upper airway, which can be life-threatening. Swelling episodes may have various triggers, such as mild trauma (such as dental work), viral illness, cold exposure, pregnancy, certain foods, or emotional stress. The frequency of episodes is unpredictable and can vary widely. There are two forms of AAE.
Acquired Angioedema Orphanet

Clinical description Onset most commonly occurs after 50 years of age. Patients present with white, circumscribed nonpruritic edemas that remain for a period of 48 to 72 hours and recur with variable frequency.
Acquired C1 Esterase Inhibitor Deficiency Wikipedia

Acquired C1 esterase inhibitor deficiency Other names Acquired angioedema Specialty Hematology Acquired C1 esterase inhibitor deficiency presents with symptoms indistinguishable from hereditary angioedema , but generally with onset after the fourth decade of life. [1] : 153 C4 levels are low and C3 levels are normal. [2] See also [ edit ] Hereditary Angioedema Wheal response Urticaria Skin lesion List of cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Markovic SN, Inwards DJ, Frigas EA, Phyliky RP (January 2000). "Acquired C1 esterase inhibitor deficiency". Ann. Intern. Med . 132 (2): 144–50. doi : 10.7326/0003-4819-132-2-200001180-00009 . PMID 10644276 . External links [ edit ] Classification D ICD - 10 : D84.1 ( ILDS D84.112) MeSH : C538173 External resources eMedicine : article/104888 v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency This cutaneous condition article is a stub .

Alzheimer Disease 18 OMIM

Q170H and R181G mutant mice showed significant attenuation of APP processing compared to wildtype, with a decrease in APP-CTF-alpha levels and an increase in sAPP-beta levels, indicating that the mutations attenuated Adam10 alpha-secretase activity on APP. Crossing these Adam10 mutant mice with the Tg2576 AD mouse model showed that the Adam10 mutations increased amyloidogenic APP processing, as manifest by a shift from the alpha-secretase to the amyloidogenic beta-secretase pathway. ... Collectively, these findings suggested that diminished alpha-secretase activity of ADAM10 on APP resulting from mutations in the ADAM10 prodomain can cause AD-related pathology.

ADAM10, PSEN2

Estrogen And Neurodegenerative Diseases Wikipedia

Estrogen has been proposed to act as a neuroprotectant at several levels, and it is probable that deprivation of estrogen as a result of menopause exposes the aging or diseased brain to several insults. In addition, estrogen deprivation is likely to initiate or enhance degenerative changes caused by oxidative stress , and to reduce the brain's ability to maintain synaptic connectivity and cholinergic integrity leading to the cognitive decline seen in aged and disease-afflicted individuals. [5] There is sufficient evidence that estradiol is a powerful neuroprotectant which might have use against AD, stroke and Parkinson's disease both in women and men. [5] Estrogen and Alzheimer's disease [ edit ] This figure shows how APP cleavage produces toxic Abeta in Alzheimer's disease. Amyloid plaques formed by amyloid-β (Aβ) deposition and neurofibrillary tangles formed by tau protein phosphorylation are dominant physiological features of Alzheimer's disease. Amyloid precursor protein (APP) proteolysis is fundamental for production of Aβ peptides implicated in AD pathology. [6] By using a cell line that contains high levels of estrogen receptors, scientists found that treatment with physiological concentrations of 17 beta-estradiol is associated with accumulation in the conditioned medium of an amino-terminal cleavage product of APP (soluble APP or protease nexin-2), indicative of non-amyloidogenic processing. [7] Estrogen and Parkinson's disease [ edit ] Recommendations on the use of postmenopausal hormonal replacement therapy in women with Parkinson's disease or those genetically at risk. [8] But another group of scientists found a positive association between estrogen use and lower symptom severity in women with early PD not yet taking L-dopa . [9] Estrogen and Huntington's disease [ edit ] Huntington's disease (HD) is a polyglutamine disorder based on an expanded CAG triplet repeat [10] leading to cerebral and striatal neurodegeneration. [11] Potential sex differences concerning the age of onset and the course of the disease are poorly defined, as the difficulties of matching female and male HD patients regarding their CAG repeat lengths limit comparability. [12] Estrogen and Amyotrophic lateral sclerosis [ edit ] ALS occurs more commonly in men than in women, and women get the disease later in life compared to men. [13] This suggested the possible protective role of estrogen in ALS. ... The 2002 Women's Health Initiative of the National Institutes of Health found disparate results for all cause mortality with hormone replacement, finding it to be lower when HRT was begun earlier, between age 50-59, but higher when begun after age 60. ... "Octyl Gallate Markedly Promotes Anti-amyloidogenic Processing of APP through Estrogen Receptor-Mediated ADAM10 Activation" .

Pustular Psoriasis Wikipedia

This skin eruption is often accompanied by a fever , muscle aches , nausea , and an elevated white blood cell count . [1] Annular pustular psoriasis (APP), a rare form of GPP, is the most common type seen during childhood. [6] APP tends to occur in women more frequently than in men, and is usually less severe than other forms of generalized pustular psoriasis such as impetigo herpetiformis. [6] This form of psoriasis is characterized by ring-shaped plaques with pustules around the edges and yellow crusting. [6] APP most often affects the torso, neck, arms, and legs. [6] Diagnosis [ edit ] Classification [ edit ] Pustular psoriasis is classified into two major forms: localized and generalized pustular psoriasis . [1] Within these two categories there are several variants: Classification of Localized and Generalized Pustular Psoriasis Localized pustular psoriasis Palmoplantar pustulosis (acute and chronic) Acrodermatitis continua (of Hallopeau) Generalized pustular psoriasis (von Zumbusch) acute generalized pustular psoriasis Acute generalized pustular psoriasis of pregnancy ( impetigo herpetiformis ) Infantile and juvenile Subacute circinate and annular Management [ edit ] injection of methotrexate This section is empty.

IL36RN, IL1B, CARD14, IL1A, IL1RL2, IL17A, PI3, TNF, IL22, AP1S3, TLR3, TNFAIP3, MOG, TNIP1, LDHA, IL23A, NOD2, IL1F10

Pick Disease Of Brain OMIM

The disorder progressed until death at age 62 years. Neuropathologic examination showed severe neuronal loss and ovoid tau-positive argyrophilic intraneuronal inclusions consistent with Pick bodies. Beta-amyloid (see APP; 104760) plaques were not detected. ... None had a family history of the disorder. The age at onset ranged from 42 to 70 years, with a mean of 60. ... Van Leeuwen et al. (2006) postulated that accumulation of APP+1 and UBB+1, which represents defective proteasome function, contributes to various forms of dementia. ... The patient with the G389R mutation showed a decline in intellectual ability with forgetfulness, aggression, and a decline in personal hygiene at age 32, which progressed to death by age 37.

PSEN1, MAPT, GRN, CHMP2B, TREM2, C9orf72, TMEM106B, SORL1, TOMM40, ABCA7, PSEN2, APP, TARDBP, PCBP2, NOS2, SMUG1, NOS1, NEFL, FUS, APOE

Frontotemporal Dementia OMIM

Wijker et al. (1996) estimated that the disease penetrance was 15% by age 40, 80% by age 45, and more than 90% after 50. ... In cases where there is familial aggregation, FLDEM appears to be inherited as an autosomal dominant disorder with age-dependent penetrance (Yamaoka et al., 1996). ... Van Leeuwen et al. (2006) detected aberrant frameshifted proteins, APP+1 (APP; 104760) and UBB+1 (UBB; 191339), within the neuropathologic hallmarks of Alzheimer disease and other MAPT-related dementias, including Pick disease, progressive supranuclear palsy, and less commonly frontotemporal dementia. ... Those with GRN mutations had a higher mean age at onset (61.8 years) compared to those with MAPT mutations (52.4). ... However, the findings suggested an earlier age at onset in patients carrying an H2 allele.
Semantic Dementia Orphanet

Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
Semantic Dementia Wikipedia

Main articles: Aphasia and Primary progressive aphasia Semantic dementia Other names semantic variant primary progressive aphasia Specialty Neurology Semantic dementia ( SD ), also known as semantic variant primary progressive aphasia (svPPA), is a progressive neurodegenerative disorder characterized by loss of semantic memory in both the verbal and non-verbal domains. However, the most common presenting symptoms are in the verbal domain (with loss of word meaning). [1] [2] [3] Semantic dementia is a disorder of semantic memory that causes patients to lose the ability to match words or images to their meanings. [4] However, it is fairly rare for patients with semantic dementia to develop category specific impairments, though there have been document cases of it occurring. [5] Typically, a more generalized semantic impairment results form dimmed semantic representations in the brain. [6] SD is one of the three canonical clinical syndromes associated with frontotemporal lobar degeneration (FTLD), with the other two being frontotemporal dementia and progressive nonfluent aphasia . SD is a clinically defined syndrome but is associated with predominantly temporal lobe atrophy (left greater than right) and hence is sometimes called temporal variant FTLD (tvFTLD). [7] SD is one of the three variants of primary progressive aphasia (PPA), which results from neurodegenerative disorders such as FTLD or Alzheimer's disease . It is important to note the distinctions between Alzheimer’s disease and semantic dementia with regard to types of memory affected. In general, Alzheimer’s disease is referred to as disorder affecting mainly episodic memory, defined as the memory related to specific, personal events distinct for each individual.

Fraxe Intellectual Disability Orphanet

A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.

AFF2, FMR1, APP, SERPINA1, FRAXE, AFM, FRAXA, GTF2A1L, STON1, KIAA1109, STON1-GTF2A1L

Fragile Xe Syndrome MedlinePlus

Unlike some other forms of intellectual disability, cognitive functioning remains steady and does not decline with age in fragile XE syndrome. Frequency Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males.
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe OMIM

The first male had shown developmental delay and microcephaly. At the age of 10 years he showed short stature and an 'engaging' personality, which suggested William syndrome. No abnormality at the elastin locus (130160) characteristic of William syndrome was found, however. At the age of 11 years, educational psychologic assessment showed word recognition at 6.4 years and base number skills at 6.1 years. ... Stettner et al. (2011) reported 2 brothers, aged 10 and 11 years, with mild to moderate mental retardation and behavioral abnormalities. ... In addition, autistic features, such as hand flapping, restricted interests, repetitive behavior, and impaired social interaction and communication, became more obvious with age. No dysmorphic features were noted.
Fragile Xe Syndrome GARD

Fragile XE syndrome (FRAXE) is a genetic condition associated with mild to borderline intellectual disabilities with physical features differing from person to person. The characteristic features are learning difficulties, often a consequence of communication problems (speech delay, poor writing skills), hyperactivity, and a shortened attention span. Nearly all cases of FRAXE are caused by a specific type of mutation, called a trinucleotide repeat expansion , in the AFF2 gene, which is located on the X chromosome. A trinucleotide repeat expansion occurs when there is an abnormally large number of repeats of a specific sequence of three nucleotides (building block of DNA) within our DNA. The repeating nucleotides in FRAXE syndrome are CCG. When the number of CCG repeats is over 200, people typically have the signs and symptoms seen in FRAXE.

Fragile X Syndrome GARD

Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders , seizures, and characteristic physical features. Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner.

FMR1, APP, AFF2, FMR1-IT1, NUFIP2, GRM5, FRAXA, FRAXE, MMP9, ACTB, ARSD, PVALB, BDNF, FXN, FXR1, FMR1-AS1, G6PD, FXR2, PGD, RBMS3, CYFIP2, SRRM2, PNO1, MFAP1, MAK16, EIF4E, F9, PIK3CA, APRT, PIK3CD, PIK3CG, PTBP1, LINC01672, RAC1, PIK3CB, MECP2, IGF2, IL6, ST14, NCS1, SDC2, MLH1, CYFIP1, RPS6KB1, MSH2, NR1H4, VEGFA, PDE4D, SHANK1, FOSL1, IDS, LIMK1, SOD1, BMPR2, GRIK1, RIC8A, CD44, GRM1, CPEB1, PCSK9, DLG3, RABEP2, KIAA1109, HSPG2, C9orf72, RSS, SLC36A1, ST8SIA4, DGKK, WNT7A, PTPN5, VIP, USF2, MIR219A1, PKP4, USF1, UBE3A, TWIST1, MIR510, ICAM5, SYN1, STXBP1, STATH, C20orf181, SRY, SPARC, MAGT1, YTHDF2, WASF1, DICER1, CHMP4A, INPP5K, MED18, CHD7, MBD5, NBEA, SHC2, TWNK, SNRPN, BRD4, TARDBP, SIRT1, ARHGEF9, TOP3B, ADARB1, KCNT1, CLSTN1, DSTN, RAI1, CTCF, PDLIM5, ABCB6, HDAC6, MED12, PCA3, NRXN1, TDRD3, APOA1, SMS, HTC2, GRN, GRIN2A, ADCYAP1, GSK3B, GSN, HTT, NRG1, HTR2A, SLC12A2, IAPP, IGF1, IGFALS, IRF6, KCNH1, KCNQ2, LGALS4, GRIA2, GABRD, GABPA, AKT1, AVP, BCR, BRCA2, CAT, CD47, CRHR1, DLD, DLG4, DSCAM, RCAN1, ELAVL2, FBN1, ANG, ALPP, ALPI, LMNA, CAPRIN1, MAOA, PDE2A, ADAM10, PPP2R5E, MAPK3, PTEN, ANXA1, RANGAP1, REST, RGS4, ATXN8OS, SCN2A, SHBG, SKI, SLC1A2, SLC6A4, SLC6A8, CFP, PAX3, MAS1, PAK1, MBS1, MDM2, MEF2A, ATXN3, ADCY1, PPP1R12A, NF1, NFE2L1, NFE2L2, NHS, NNAT, NOS1, NRF1, NTRK2, NUP98, PLCG1

Fragile X Syndrome Wikipedia

X-linked dominant genetic disorder Fragile X syndrome Other names Martin–Bell syndrome, [1] Escalante syndrome Boy with protruding ears characteristic of fragile X syndrome Specialty Medical genetics , pediatrics , psychiatry Symptoms Intellectual disability , long and narrow face, large ears, flexible fingers, large testicles [1] Complications Autism features, seizures [1] Usual onset Noticeable by age 2 [1] Duration Lifelong [2] Causes Genetic ( X-linked dominant ) [1] Diagnostic method Genetic testing [2] Treatment Supportive care , early interventions [2] Frequency 1 in 4,000 (males), 1 in 8,000 (females) [1] Fragile X syndrome ( FXS ) is a genetic disorder characterized by mild-to-moderate intellectual disability . [1] The average IQ in males is under 55, while about two thirds of affected females are intellectually disabled. [3] [4] Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles . [1] About a third of those affected have features of autism such as problems with social interactions and delayed speech. [1] Hyperactivity is common, and seizures occur in about 10%. [1] Males are usually more affected than females. [1] This disorder and finding of Fragile X syndrome has an X-linked dominant inheritance. [1] It is typically caused by an expansion of the CGG triplet repeat within the FMR1 (fragile X mental retardation 1) gene on the X chromosome . [1] This results in silencing ( methylation ) of this part of the gene and a deficiency of the resultant protein (FMRP), which is required for the normal development of connections between neurons . [1] Diagnosis requires genetic testing to determine the number of CGG repeats in the FMR1 gene. [5] Normally, there are between 5 and 40 repeats; fragile X syndrome occurs with more than 200. [1] A premutation is said to be present when the gene has between 40 and 200 repeats; women with a premutation have an increased risk of having an affected child. [1] Testing for premutation carriers may allow for genetic counseling . [5] There is no cure. [2] Early intervention is recommended, as it provides the most opportunity for developing a full range of skills. [6] These interventions may include special education , speech therapy , physical therapy , or behavioral therapy . [2] [7] Medications may be used to treat associated seizures , mood problems, aggressive behavior, or ADHD . [8] Fragile X syndrome is estimated to occur in 1.4 per 10,000 males and 0.9 per 10,000 females. [9] Contents 1 Signs and symptoms 1.1 Physical phenotype 1.2 Intellectual development 1.3 Autism 1.4 Social interaction 1.5 Mental health 1.6 Vision 1.7 Neurology 1.8 Working memory 1.9 Fertility 2 Causes 2.1 Inheritance 3 Pathophysiology 4 Diagnosis 5 Management 5.1 Medication 6 Prognosis 7 Research 8 History 9 References 10 External links Signs and symptoms [ edit ] Prominent characteristics of the syndrome include an elongated face and large or protruding ears. ... Hyperactivity and disruptive behavior peak in the preschool years and then gradually decline with age, although inattentive symptoms are generally lifelong. [25] Aside from the characteristic social phobia features, a range of other anxiety symptoms are very commonly associated with FXS, with symptoms typically spanning a number of psychiatric diagnoses but not fulfilling any of the criteria in full. [25] Children with FXS pull away from light touch and can find textures of materials to be irritating. ... Individuals who are carriers of premutation alleles are at risk for developing fragile X-associated tremor/ataxia syndrome (FXTAS), a progressive neurodegenerative disease. [13] [29] It is seen in approximately half of male carriers over the age of 70, while penetrance in females is lower. ... Phonological memory (or verbal working memory) deteriorates with age in males, while visual-spatial memory is not found to be directly related to age. ... However, in a premutation individual, CGG length is only significantly correlated with the central executive, not with either phonological memory or visual–spatial memory. [30] Fertility [ edit ] About 20% of women who are carriers for the fragile X premutation are affected by fragile X-related primary ovarian insufficiency (FXPOI), which is defined as menopause before the age of 40. [13] [29] The number of CGG repeats correlates with penetrance and age of onset. [13] However premature menopause is more common in premutation carriers than in women with the full mutation, and for premutations with more than 100 repeats the risk of FXPOI begins to decrease. [31] Fragile X-associated primary ovarian insufficiency (FXPOI) is one of three Fragile X-associated Disorders (FXD) caused by changes in the FMR1 gene.
Fragile X Syndrome Orphanet

A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism. Epidemiology Prevalence is estimated at approximately 1/2400-1/6000 although the prevalence may vary, depending on where the screening is carried out in the world. Clinical description Fragile X syndrome (FXS) presents with a variable clinical phenotype. In males, the disease presents during childhood with delayed developmental milestones. Intellectual deficit can be of variable severity and may include problems with working and short-term memory, executive function, language, mathematics and visuospatial abilities.
Fragile X Syndrome OMIM

Meryash et al. (1984) studied 18 affected males, aged 18 to 69 years. Of 15 subjects, 13 had macroorchidism. ... Reiss et al. (1994) showed that the volume of the hippocampus was enlarged in fragile X patients compared to controls. Furthermore, there was an age-related increase in the volume of the hippocampus and an age-related decrease in the volume of the superior temporal gyrus. ... An earlier suggestion that the proportion of cells exhibiting marXq28 decreases with increasing heterozygote age (Sutherland, 1979; Jacobs et al., 1980; Turner et al., 1980) may have been an artifact due to ascertaining fewer retarded women in older age groups (Jacobs et al., 1982). ... Stoll (2001) presented 11 children under the age of 8 years and noted the difficulties in diagnosis of fragile X syndrome at this age. ... Carrier Females Toledano-Alhadef et al. (2001) tested 14,334 Israeli women of childbearing age for fragile X carrier status between 1992 and 2000.

Hearing Loss Mayo Clinic

Overview Hearing loss that comes on little by little as you age, also known as presbycusis, is common. More than half the people in the United States older than age 75 have some age-related hearing loss. ... Mixed, which is a mix of the two. Aging and being around loud noises both can cause hearing loss. ... Talk to your health care provider if loss of hearing is causing you trouble. Age-related hearing loss happens little by little. ... A whisper test, which involves covering one ear at a time while listening to words spoken at many volumes, can show how you react to other sounds. App-based hearing tests. You can use a mobile app on your tablet to screen yourself for hearing loss.

SLC26A4, PCDH15, USH1G, MSRB3, GSDME, DNMT1, TJP2, TECTA, WFS1, GJB6, GJB2, MYO7A, GJB3, OTOF, USH2A, CDH23, EYA4, TMPRSS3, TMC1, PRPS1, ACTG1, WHRN, TRIOBP, USH1C, LRTOMT, MYO15A, MARVELD2, ILDR1, SIX1, POU3F4, PJVK, COL4A5, FGFR3, ADGRV1, CHD7, MYO3A, SALL4, TMIE, FOXC1, GRXCR1, DSPP, FANCC, FGF3, PITX2, COCH, GIPC3, TPRN, EYA1, SLC33A1, CLDN14, FANCG, FANCA, BTD, ARSB, PNPT1, SLC29A3, APOE, CLRN1, GRHL2, SMPX, ESRRB, CIB2, SLC26A5, COL11A2, LOXHD1, CRYM, DIAPH1, SH3PXD2B, TIMM8A, OTOA, RDX, LMX1A, STAG2, CACNA2D2, TLR4, ERCC6, MN1, NTF3, RPS6KA3, TRAPPC4, ABHD5, RPGR, HSD17B4, DIABLO, FOXI1, CCDC50, SOD1, ATP6V1B1, MIR96, ABHD12, BCL2L1, CISD2, BSND, MYO1A, SLC17A8, STAT1, CDK8, SERPINB6, UCP2, BDNF, PDE5A, UCP3, IL10, ARC, KCNQ4, STRC, POU4F3, ELMOD3, OTOGL, SLC26A2, LHFPL5, ESPN, CEACAM16, TBC1D24, SOX10, PAX3, GUSB, TFAP2A, IQGAP2, LMNA, GJB1, GJB4, MANBA, ATP6, KCNE1, MPZ, COL2A1, CDC14A, COL4A4, PMP22, CABP2, RMND1, OTOG, EDN1, TFAP2B, TCF12, HNF1B, UBE2A, FIG4, TWIST1, ALMS1, TELO2, IFT140, PIEZO1, MED12, SEMA3E, SHOC2, CEP57, IQCB1, GDF3, GABBR2, AMMECR1, CREB3L1, SCO2, CERT1, ZMPSTE24, SF3B4, COQ7, KDM6A, BCAP31, SLX4, PIGO, TBX1, NSD2, ZIC1, PQBP1, TBX15, NELFA, LMNB2, WNT5A, ABCB6, XRCC2, PPP1R15B, TULP1, KMT2D, ARL6, TBX4, BMP15, TRRAP, SHANK3, CDC45, BUB3, PLA2G6, AIFM1, SMC3, PLOD3, KYNU, TGFB1, ZNF469, PEX11B, TNFRSF11A, PHF6, OFD1, TP63, TNFSF11, CNTNAP1, TGM1, STUB1, LRAT, TERT, MKKS, PIGL, CHST3, ANTXR1, ITM2B, TERC, RECQL4, COG1, USP9X, ARID1A, RBM10, USP45, TK2, NRXN1, THRB, TRIP13, NAA10, RNF135, AP1S2, CEP290, TCIRG1, TBL1XR1, DARS2, MSTO1, WRAP53, FANCL, CARS2, PHIP, SH3TC2, IMPAD1, MKS1, NSUN2, BCOR, UGT1A1, LZTFL1, NDUFB11, USB1, RTEL1, OTUD6B, LIPT1, MBTPS2, DACT1, WAC, TACO1, TRAPPC12, NDUFA13, WDPCP, GMNN, TPRKB, SOST, TBX22, RFWD3, BBS7, FANCI, HYMAI, PORCN, NMNAT1, EPS8L2, NXN, SLC39A8, PIEZO2, ALOXE3, NDUFAF5, GBA2, FANCM, ARID1B, NUP107, RPGRIP1, COQ8A, NOP10, MRPS22, TWNK, CCDC28B, KLHL7, NDUFA12, VPS11, SPATA7, MCTP2, VAC14, NHP2, PIGV, SLC52A2, FOXRED1, RRM2B, PALB2, NDRG1, NARS2, CTC1, CRB1, SURF1, PLXND1, POGZ, TRIM32, P2RX2, DHX30, MORC2, NTNG1, PUF60, EXOSC8, POLG2, POLR3A, PRDM5, IFT27, SLC19A3, SDCCAG8, CDT1, RAI1, YME1L1, EBP, STAMBP, BRIP1, POMT1, COLEC10, NOP56, SEC23B, MAD2L2, SPIDR, KAT6B, CDK20, IFT172, PYCR2, PSMC3IP, SNX10, ANKRD11, UBE2T, NDUFAF4, BBS10, PCLO, PGAP2, BBS9, INTU, EHMT1, TINF2, ABCA12, WBP2, ZBTB20, CNTNAP2, DNAH1, SIN3A, NDUFAF3, ANAPC15, L2HGDH, RAB3GAP2, AIPL1, KCNE5, DCAF17, ORC6, LEMD3, TAF1, TTR, ABCC8, GCK, GBA, ARID2, FLCN, GALNS, GALC, GAA, FZD2, KDSR, FUCA1, NR5A1, FSHR, FXN, FMR1, CERS3, FLNA, FOXG1, FGFR2, FGFR1, GPC4, FDXR, FANCF, FANCB, ACSL4, FANCE, FANCD2, RNASEH1, NALCN, ERCC5, ERCC4, GCH1, GJA1, STXBP1, GPC3, ITGB6, PDX1, INS, IMPDH1, BEAN1, SIX5, IFRD1, IDUA, IDS, TNC, HSPD1, HNRNPK, HNF4A, HIVEP1, HEXA, HCCS, HBB, HARS1, GUCY2D, C8orf37, BBS12, LCA5, GSN, ASXL1, GNS, GNAS, GNAI3, GLI3, GLB1, ERCC3, ERCC2, EP300, EDNRB, PTPRQ, RUNX2, PCARE, CACNA1D, BUB1B, BUB1, BTK, BRCA2, BRAF, BRCA1, BCS1L, BBS4, BBS2, BBS1, GDF6, ASPA, ARSL, C10orf105, ALG11, APC, SLC25A4, ALOX12B, ABCD1, AKT1, AK2, AHSG, PET100, KLLN, ACVR1, NDUFS7, CDC6, CHD4, CRX, EDN3, ECHS1, DVL3, DVL1, ATN1, SUMF1, DKC1, DHCR7, PNPLA1, SLC26A4-AS1, DDX11, DDX3X, CTNNB1, CREBBP, NIPAL4, COX15, COX7B, RD3, COL10A1, ZFP57, COL7A1, COL4A6, COL4A3, COL1A2, COL1A1, CLCN7, AP1S1, CKMT1B, KARS1, KCNC3, TTC8, RET, SMIM12, COLEC11, RAD51, PTH1R, NLRP3, PTEN, MASP1, GPRASP2, PRKAR1A, PPP1CB, CTSA, POLR2F, POLG, NUS1, PLCB4, PLAGL1, PIK3CA, PIK3C2A, PIGA, TWIST2, PHEX, ATP8B1, PEX13, PEX6, PEX1, PEPD, PDHA1, PDE9A, PDE4D, DPF2, REV3L, PCYT1A, CHST14, CDKL5, STAT3, SRY, SRP72, SOX11, SOX9, SOX4, SOX2, SON, SMARCE1, SMARCC2, SMARCB1, SMARCA4, SNAI2, RFT1, NDUFAF2, COG7, SGSH, SDHD, SDHC, SDHB, SDHA, BBIP1, G6PC3, SC5D, SALL1, DTD1, RPL11, RPE65, PDE1C, RAD51C, KCNJ11, SMAD4, MYCN, TRNL1, MTHFD1, ATP8, BBS5, VPS37A, NDUFAF6, MITF, MGP, HGSNAT, MEOX1, MECP2, MAF, B3GLCT, PAX2, LRP5, LRP4, RDH12, LMX1B, LMNB1, LIG4, LHX1, LETM1, KRAS, KIT, KIF5A, KCNQ1, KCNJ13, MYD88, MYH3, NDUFV1, TNFRSF11B, OAT, ROR2, ORC1, NPHP1, NOTCH2, NFIX, MTFMT, NDUFV2, NDUFS8, NDUFS4, NDUFS3, NDUFS2, NDUFS1, NDUFB8, NDUFA10, ORC4, NDUFA9, NDUFA4, NDUFA2, PARN, NAGLU, NAGA, RNR1, MYO6, MYH9, OPA1, MYH6, NT5E, MYH14, COX1, KCNJ10, NAT2, GSTM1, GATA3, IGF1, ADA, ADCY1, CD226, ACE, UCN, MTHFR, S1PR2, ATP2B2, TRS-AGA2-3, GRM7, CRP, F11, ETS1, TRPV4, EPO, FABP2, SLC26A3, SLC26A11, RSPO1, DFNA47, GATA2, FCGR1A, FOXO3, FLI1, FLNC, DMD, PTCRA, DFNB33, GSTM3, GSTP1, GSTT1, HOXA1, IDH2, SH2D6, CYP2A6, DFNA16, DFNA7, DFNB71, ADCYAP1, DFNB55, ALB, DFNB47, DFNB45, BIRC5, ARL2, MIR34A, CHCHD10, BAK1, BCL2, CALCA, CAPG, CD5L, CD40LG, CD69, GJC3, CKB, COL9A3, COL11A1, DFNB38, DFNA49, KLKB1, DFNX3, IL1B, MET, LRP2, LY6E, UCP1, UROD, BEST1, CD164, ADIPOQ, FHL5, BAG3, SNAP91, PDLIM5, GIPC1, EHD1, SIRT1, BACE1, DFNA24, PDZD7, MTO1, EHF, HPGDS, REM1, EHD4, EHD3, EHD2, TSPEAR, MCPH1, THG1L, FKBP14, POMGNT1, ACTB, TPO, TGFB3, PRKCG, ANKH, ATXN3, MSX1, MTAP, ND4, MTR, TRNS1, NEFL, PAX9, SERPINA1, PLOD1, PLS1, PTGDS, DFNA18, RASA1, ROM1, SERHL, ACSM3, ATXN2, SCD, SKP1, SLC6A11, SLC6A13, SKP1P1, SLC25A21, TGFA, ERICD

Hereditary Cerebral Hemorrhage With Amyloidosis GARD

Based on the region in which they were first described, the subtypes include: The Dutch , Arctic , Piedmont , Iowa , Flemish , Italian types are caused by mutations in the APP gene The British and Danish types are caused by mutations in the ITM2B gene The Icelandic type is caused by mutations in the CST3 gene All types of HCHWA currently described are inherited in an autosomal dominant manner.

CST3, ITM2B, APP, CTSD, APOE, ACTB, PTPRC, TSHZ1, SYP, SPP1, SDC2, HSPG2, SMAD2, ITGAX, GFAP, FN1, FAP, CD68, HSPB8

Cerebral Amyloid Angiopathy, Cst3-Related OMIM

Also in Iceland, Gudmundsson et al. (1972) studied a kindred in which 18 persons in 3 generations had cerebral hemorrhage, some of them at a young age. Cerebral arteries showed thickening of the walls with deposition of material with the characteristics of amyloid. ... Over 80% of those who died from this disease were less than 40 years of age. Abnormally low cystatin C in the cerebrospinal fluid was a characteristic that could be used in identifying asymptomatic affected persons. ... Differences that have been noted between the 2 forms include the following: Icelandic patients suffer the first stroke at a mean age of 27 years, whereas the Dutch patients are approximately 25 years older; the level of cystatin C in the cerebrospinal fluid of Icelandic patients is lower than that in Dutch patients or in healthy persons; and, immunohistochemically, intense staining for cystatin C is found in diseased Icelandic brain vessels, whereas in the Dutch material only weak or dubious staining is found. ... A critical piece of evidence indicating a difference between the 2 diseases is the finding by van Duinen et al. (1987) that in the Dutch form of the disease the vascular amyloid deposits have immunohistochemical characteristics of Alzheimer disease-related beta-protein (APP; 104760). Molecular Genetics In Icelandic patients with hereditary cerebral hemorrhage with amyloidosis, Abrahamson et al. (1987) identified a heterozygous mutation in the CST3 gene (L68Q; 604312.0001). ... INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Premature stroke - Intracranial hemorrhage - Dementia LABORATORY ABNORMALITIES - Generalized amyloid deposition - Abnormally low cerebrospinal fluid cystatin C MISCELLANEOUS - Onset 3rd to 4th decade of life - Death before age 40 - Icelandic families MOLECULAR BASIS - Caused by mutations in the cystatin C gene (CST3, 604312.0001 ) ▲ Close
Hereditary Cerebral Hemorrhage With Amyloidosis Orphanet

Clinical description Unlike sporadic forms of cerebral amyloid angiopathy (CAA), HCHWA usually presents in younger patients (<55 years of age) and has more severe manifestations. ... Etiology Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein.
Cerebral Amyloid Angiopathy Wikipedia

Abnormalities in each of these identified clearance pathways have been linked to CAA. [12] [13] In familial forms of CAA, the cause of Aβ build up is likely due to increased production rather than poor clearance. [14] Mutations in the amyloid precursor protein (APP), Presenilin (PS) 1 and PS2 genes can result in increased rates of cleavage of the APP into Aβ. ... ISBN 9780521717922 . ^ Dening, Tom; Thomas, Alan (2013-09-26). Oxford Textbook of Old Age Psychiatry . OUP Oxford. ISBN 9780199644957 . ^ a b Biffi, Alessandro; Greenburg, Steven M. (2011). ... External links [ edit ] Classification D ICD - 10 : I68.0 MeSH : D016657 DiseasesDB : 32874 External resources MedlinePlus : 000719 eMedicine : neuro/628 Scholia has a topic profile for Cerebral amyloid angiopathy . v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline

Microvasculature Remodeling Wikipedia

What makes vessels grow with exercise training? J App Physiol 97: 1119–28, 2004. This cardiovascular system article is a stub .

Isolated Atrial Amyloidosis Wikipedia

Retrieved 17 November 2010 . v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2

Neurodegeneration Wikipedia

Beta-amyloid is a fragment from a larger protein called amyloid precursor protein (APP), a transmembrane protein that penetrates through the neuron's membrane. ... Mitochondrial DNA mutations as well as oxidative stress both contribute to aging. [41] Many of these diseases are late-onset, meaning there is some factor that changes as a person ages for each disease. [2] One constant factor is that in each disease, neurons gradually lose function as the disease progresses with age. ... The Alzheimer conundrum : entanglements of dementia and aging . Princeton. ISBN 978-1-4008-4846-1 . ... "Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression" . Neurobiology of Aging . 37 : 209.e1-209.e7. doi : 10.1016/j.neurobiolaging.2015.09.014 . ... S2CID 4421515 . ^ Bernstein C, Bernstein H (1991). Aging, Sex, and DNA Repair . San Diego: Academic Press. pp. 121–139.

NGF, SNCA, APP, EPO, SIRT1, ATXN1, MAPT, HMOX1, PSEN1, PANK2, GDNF, HCRT, IL6, CRYAB, GSTO1, IDO1, TBCD, TTC19, SERPINA1, SOD2, GSTM1, GSTM2, SELENOP, APOD, VIM, KYNU, FTH1, PDE8B, AGPAT3, GSR, NGFR, GPX3, SPTAN1, PKD2, MGST1, GSTM4, GSTM5, SEPTIN5, LRRK2, INA, CAT, FTL, AIMP1, CLEC16A, APLP2, GOT2, ATG7, NQO1, TNF, PRNP, OPA1, RMDN2, CLN3, SACS, MTOR, NPC1, FXN, ATXN7, TREM2, NFE2L2, NEFL, P2RX7, TGM2, ATXN2, FMR1, PPARGC1A, RMDN1, SNCG, TPP1, SETX, TSPO, SNCB, CDK5, PIK3CG, PIK3CD, SMN2, SMN1, SIRT2, PPARG, SNRPN, PIK3CB, C9orf72, PIK3CA, NLRP3, PTPA, PPT1, PRKN, CLU, SOD1, FUS, CSF2, AR, STMN1, APOE, LAMC2, SIGMAR1, GRN, PLA2G6, TTR, DNM1L, IL1B, ABCD1, CDK5R1, HDAC6, SQSTM1, IGFALS, SNURF, MFN2, PARP1, PINK1, IGF1, HTT, HFE, ACTB, HSP90AA1, ACHE, HSPA4, LCN2, OPTN, TARDBP, SYBU, GABPA, BDNF, MAOB, GCG, UCHL1, BCHE, RMDN3, ATXN3, GFAP, VEGFA, VCP, ATM, GRIN2B, EIF2B2, TLR4, GAPDH, GBA, KHDRBS1, GTF2H1, EIF2S2, ANG, CP, EIF2B4, REN, DCTN4, NUP62, EIF2B1, PIN1, TPPP, GSK3B, HSF1, ITM2B, HRES1, S100B, TP53, BACE1, CTSD, MAOA, TMED9, TMEM106B, CASP6, TFEB, CASP3, PTBP1, NGB, MAPK8, MAPK1, DAPK2, MAK16, RBMS3, PNO1, SRRM2, GLP1R, CTNNB1, MGLL, SIRT3, DENR, CNR2, KEAP1, SLC6A4, UTRN, CNTF, CRMP1, OGA, PNPLA6, EPM2A, SLC1A2, LEP, SLC6A3, PREP, AKT1, CLN5, DYRK1A, ITPR1, STH, LY6E, ARSA, HTRA2, DNAJC5, MPO, P4HB, GALC, TRPM2, CHCHD10, AGER, NCL, PTGS2, CHMP2B, ADIPOQ, HDAC9, SGSH, ABHD12, CNR1, TXN, SPP1, WFS1, NRGN, STAT3, TRPV1, EIF2AK3, CX3CL1, TDP1, ATP13A2, VDR, EPHB2, UBB, KL, MS, TAC1, APTX, TTPA, HSP90B2P, DNMT1, PRKCG, DCTN1, SUCLA2, PQBP1, SORT1, MAPK10, VPS13A, CHI3L1, SMUG1, HSPB8, CASP8, ADAM10, KLK6, TRPM7, HMGB1, CST3, REST, STUB1, MIR29A, MIR132, GCHFR, CLN6, HSPD1, TXNIP, ANXA1, SV2A, IL10, UPK3B, IL12A, IREB2, CAMK4, ELP1, SUGP1, BCL2, HAMP, YWHAZ, DNAJB1, MBP, NR1H2, MNAT1, UCP2, CSF1R, AFG3L2, PARK7, MCIDAS, SURF1, UBQLN2, ABCB1, CDCA5, ACE, SST, DKK1, KIF1B, PLA2G1B, TLR2, PLP1, DISC1, SARM1, ATN1, PPARA, EWSR1, DPP4, ATL1, CSTB, CREBBP, FCN2, NPY, HNRNPA1, PTEN, HOXD13, PRKAB1, RHO, REG1A, RIPK1, PRKAA2, IL1A, HDAC3, SI, HSPA1A, HNRNPA2B1, APLN, HSPB1, SYNJ1, TECPR2, IAPP, PSMD2, PTN, SOCS3, MARK4, LGMN, KMO, MAPK3, EPG5, IFNG, PTPN1, EIF2AK2, CCL2, MGAM, NAGLU, TAF15, PRKAA1, HSPA14, CHCHD2, WDR45, COX2, TAT, TYROBP, MTHFR, TYR, GEMIN4, TBP, NOS3, TDO2, TGFB1, S100A1, PDE10A, MSI1, TBK1, POLG, SPTBN2, MCOLN1, KCNC3, CFDP1, MANF, MAP3K12, SPAST, TMEM97, PDYN, VIP, SGSM3, MEFV, MFGE8, PFN1, AHSA1, CD200, PICK1, ALDH2, KIF1A, GLB1, CBLL2, CRH, TAAR1, MUL1, CRP, ATP7A, GPER1, CDNF, ACO2, SESN2, ATF4, PDIA3, GRM5, GRIA2, MIR34A, CBS, HNRNPA1P10, EIF4G2, CX3CR1, CYBB, NR3C1, FOLR2, ALOX5, ADCYAP1, DECR1, ABCA1, AQP4, HDAC2, DYNC1H1, LYST, APEX1, CACNA1A, CASP1, NIPA1, TTBK1, HIF1A, NRG1, DPYSL2, ASPA, DNAJB1P1, FOLR1, HEXA, CYP46A1, MRGPRX3, PLCG2, PLG, PLA2G4A, MRGPRX4, GSTO2, YME1L1, CALB1, TMSB4X, C5, C5AR1, BSCL2, MIR137, DRD2, PON1, TNFRSF1B, TPO, A2M, MIR183, EGFR, CXCR4, GPNMB, SLC11A2, PTK2B, NRTN, NTRK2, WNT1, SLC25A46, SEPSECS, ASAH1, F2R, MTDH, NPC2, GPR166P, VN1R17P, VDAC1, UBQLN1, ERBB2, PDC, PYCARD, PDE4A, DNAH8, PDE7A, SUMO1, CLN8, TYMS, BRAF, PHPT1, POLDIP2, CANT1, RRAS, OXER1, ATXN8OS, EXOSC8, CRK, STIM1, MAPK14, PNKP, CCL11, ZFYVE26, ROS1, PLB1, LPAR3, TACR1, RGS10, HEXD, SGCG, MIR107, SOX3, PCSK9, KDM1A, SNAP25, CETP, GPRC6A, BRAT1, SLC18A2, SGK1, SLC6A2, ACSBG1, SLC2A1, MLKL, CDC42, SPTBN1, PDIK1L, PADI4, RBM3, DBN1, RELN, CASP2, DBH, CD200R1, MAP2K7, LINGO1, TIMM8A, CUX1, CAST, FAM168B, PRKCD, DHCR24, DIO2, DLG4, DAPK1, STIP1, DAG1, CASP9, CYP27A1, PARS2, TMED10, CYP19A1, CLIC4, GPR151, RNF19A, PTPN11, PRDX5, TERT, RIPK3, RAC1, MOK, BDNF-AS, P2RY2, MRGPRX1, MSC, IL4, VPS35, SPG11, IL3, GLE1, MID1, GJA1, MBTPS1, PEA15, BECN1, IL2, ABCD2, MMP9, MMP14, GIP, MOG, SNCAIP, MAD2L1BP, LRPPRC, MTPAP, GH1, IGF2, DNAJB6, MDK, ALS2, NDRG2, HAP1, ADM, ACP3, INSR, RARS2, MTCO2P12, GRIN1, AIFM1, RPSA, SLC52A2, LDLR, GLUL, AGTR1, TUBB4A, CISD1, LPL, LRP1, SLC33A1, VAPB, NARS2, ALB, MAS1, HSD17B10, CCR2, NDUFA1, ABCG2, RNR2, GRAP2, CFH, HGF, SPOAN, PRUNE1, APC, NEDD4, NEFH, HSPA9, HSPA5, ANPEP, ANP32A, HK1, HSPA1B, DNAJB2, ABCA7, AAVS1, SLC25A27, LGR6, AIMP2, HMBS, FZD4, JPH3, BAG3, SNX27, ABL1, BLZF1, ATP6, SLC25A38, OXR1, POLR3A, TMEM189, CIT, LZTS3, RAB21, NDUFS7, CLOCK, UNC13A, PTGES, KIF20B, HES3, TMEM189-UBE2V1, CDC37, SCRN1, TMED10P1, RUFY3, NLRP1, ADAP1, H3P13, DNAJC6, KIF21B, SIRT1-AS, P2RX2, TMEM59, GEN1, DDX19B, NANOS3, PGP, PADI2, GOSR1, RGS6, SLC2A6, C14orf177, NEAT1, NPAS4, MMRN1, STXBP5L, ZNF763, TMEM119, PWAR4, ISG15, IMMT, PDAP1, H3P14, TUSC2, HDAC4, SBNO2, COPD, PSIP1, H3P7, RACK1, SETDB1, CXCL13, RAMP2, COQ7, GDF11, SCGN, ATP6AP2, CEBPZ, NAMPT, TMEM41B, SCA26, SH2B2, SFTPA1, MIR30B, MIR25, CXCR6, MIR21, MIR200A, MIR184, LOC643387, DNAJA2, FIG4, HSPA12A, CLN9, MIR504, CISD2, TUBA1B, CACNG2, KLF2, CLEC10A, NXF1, TFG, KAT5, NOP56, SULT1A4, XRCC6P5, BATF, AKR1A1, SPTLC1, RTN3, PARK12, CTCF, MIR603, MIR155, SLC12A6, SLX1A-SULT1A3, PAPOLA, ARMCX5-GPRASP2, P2RX5-TAX1BP3, TCERG1, NR1H4, ERP29, MVP, SCGB1D4, RBM8A, GDNF-AS1, PGR-AS1, ATXN2-AS, CRYAA2, CLP1, COPS5, LINC01672, RAB10, MRPS30, CYSLTR1, FARS2, MIR146A, MIR144, PPIF, PTGES3, C20orf181, ARPP19, PTPRU, AAA1, CCL27, HPSE, PGRMC1, HBD, ABCB6, AOS, KCNE3, NUP153, NECAB1, MFSD8, SYT14, SYVN1, CCDC115, MINDY4, PPP1R1B, RNF146, ADPRS, OCIAD1, TXNDC5, TESC, GDPD5, DARS2, BHLHB9, SBNO1, ZNF436, ROCK2, NAT10, UBA6, SPTLC3, YOD1, FOXRED1, AMBRA1, PPP4R3A, OPA3, NAXD, IFT122, DNAJC10, TERF2IP, ABLIM2, ADO, NAGPA, RPPH1, CRBN, ABI3, VRK3, BFAR, DNAJC14, NRN1, DCDC2, IL23A, TDP2, ATP6V1H, GDAP1, CIAO2B, RASD1, TPPP3, ORAI1, PARP10, ATP8A2, PTPN5, PANK1, DUOX1, TLR9, TREM1, ASRGL1, ZNF415, SLC8B1, REEP1, ZNF512B, LYNX1, NLN, KIDINS220, TAOK1, SEMA6A, CFAP97, FUNDC2, WNK1, STIM2, DPP10, BCL11B, BIRC6, PORCN, SPG16, MTHFSD, SMURF2, LSM2, PDIA2, SENP2, GORASP1, INF2, SIL1, PROK2, MYORG, SCYL1, L2HGDH, SPHK2, PAG1, CCDC51, SELENOS, HDAC8, ZNF253, PRMT8, SLC2A9, TMPRSS4, TWNK, EFHD2, RETN, FA2H, COLEC11, ACKR3, PCBP4, SLC17A6, RPGRIP1, TIGAR, GGCT, THAP11, GJD2, AICDA, METRN, ABHD6, CHRFAM7A, SDF4, MCU, PLXNB2, CABIN1, SEC14L2, GAREM2, MANEAL, ZNF569, TTBK2, PWAR1, CD2AP, PIWIL4, PRND, HSPBP1, GABARAPL1, MACF1, FBXO7, QPCT, SEMA4A, POLR1A, PPARGC1B, ATL3, SH2B1, ACOT11, ATRNL1, CHD5, OCIAD2, SLC39A14, QPRT, APPL1, MGRN1, FNDC5, NMNAT2, OARD1, FOLH1B, MAST2, RTL3, UBR1, PAOX, RLS1, WWC1, AGTPBP1, ARX, SLC44A1, IDO2, SPATA5, DNAJC13, ZNF629, TOR1AIP2, KCTD7, SIRT5, SLC2A12, NCS1, KCNH4, GPBAR1, GIGYF2, KCNH8, LRSAM1, PADI1, SLC52A3, SLC46A1, PRRT2, PCLO, OPN4, REM1, OSTM1, FLVCR1, FTMT, HIPK2, TMEM230, TBCK, CYGB, PILRB, DNER, NOP53, ERVW-1, DUOX2, MTG1, ASAP1, HDGFL3, GMNN, PLXNA4, ADIPOR1, CYP2U1, GPRASP2, AHSA2P, BBC3, PTPN22, FBXL5, HIBCH, BHLHE23, FGF20, GNL3, SLC17A5, RNF11, FETUB, SIGLEC7, B3GAT1, DKK3, UHRF2, EXOSC6, AGO2, IP6K3, COQ2, TNFRSF21, PDLIM3, APEX2, HPGDS, RAB39B, NXNL1, RABGEF1, ATXN10, SORL1, SH3BP5, GRM4, GLRX, GM2A, GMFB, CXCR3, GPR17, GPR18, MCHR1, GPR26, GPR42, GRK5, GRIK3, GRIN2D, GRM2, GRM3, GSN, HSPA6, GSS, GSTP1, GUSB, HBB, HCLS1, HDAC1, HEXB, UBE2K, HK2, HLA-C, HLA-G, HMGA1, NR4A1, HPX, GLO1, GIPR, CBLIF, GHRH, EPRS1, EREG, ERN1, ESR2, EZH2, F2RL1, F3, F5, F9, FAAH, FABP3, BPTF, FDPS, FGF1, FGF9, FOXO1, FOXO3, FLNB, FOLH1, FOS, FOSB, FPR2, FRAXE, G6PD, GAD1, GAP43, GBAP1, KAT2A, GFER, AGFG1, HSPB2, ENO2, MECP2, KCNN1, KIT, LGALS1, LGALS3, LIFR, LIPC, LMNB1, LMX1B, LOX, LPA, NBR1, MARK1, MCL1, MDM2, MAP3K5, HSP90AB1, KITLG, MGST3, MIF, MLF1, MAP3K11, KMT2A, MMP1, MMP2, MPP1, MPST, MPZ, MRC1, MSH2, MSN, KCNMA1, KCND3, KCNB1, JUND, HTR2A, HTR2C, ICAM1, IRF8, IDE, IDH2, IFIT3, RBPJ, IKBKB, IL1RN, IL2RA, IL2RB, IL7R, CXCL8, IL13, IL13RA1, IL15, IL17A, IL18, INPPL1, IRF4, ISG20, ITGAM, ITGB2, ITIH4, ITPR2, ITPR3, JUN, JUNB, EPHA1, ENG, MST1, C9, ATR, AVP, BAX, BCL2L1, BCL6, BCYRN1, BGN, BLMH, BLVRA, BNIP3, BRCA2, BRS3, BTK, CAPN5, CAD, SEPTIN7, CAPN2, CASP7, CASR, CAV1, CAV2, CD14, CD33, SCARB2, CD38, CD40, CD40LG, CD63, CD68, CDK1, ATP5MC1, ATHS, ARNTL, RHOA, SERPINA3, ACADM, ACOX1, ACP1, ACYP2, ADCYAP1R1, ADORA1, ADORA2A, ADRA1A, ADRA2B, ADRB2, AHR, AHSG, AIF1, AK4, AKT2, ALOX12, ALOX15, ALPP, AMD1, AMD1P2, AMPD2, ANK1, APAF1, APBB1, APLP1, APOA1, KLK3, AQP1, CDK11B, CDC27, MARK2, DMPK, CTBP2, CCN2, CTSB, CTSK, CTSZ, CYP2B6, CYP2D7, CYP2D6, DARS1, DBI, DDX3X, DES, COCH, DLST, DOCK2, CDH1, SLC26A3, DRD1, DUSP2, DUSP6, E2F1, EDN1, EDNRA, EEF1A1, EGF, EIF4E, EIF4G1, ELANE, ELAVL2, ELK1, CST6, SLC25A10, VCAN, CSNK1D, CDH15, CDK2, CDK6, CDK9, CDKN2A, CDKN2D, CEBPD, CETN1, CFL2, CHAT, CHD2, CHGA, CHIT1, CHRM1, CHRNA4, CHRNA7, CISH, CLK1, CCR5, COL11A2, COL17A1, COMT, COX8A, CPN1, CPOX, ATF2, CRHR1, CRYAA, CRYZ, MSRA, MT3, AIM2, TNFRSF1A, TF, TFAM, TFCP2, TFRC, THBS1, THOP1, THY1, TIA1, TIMP1, TIMP2, TIMP3, TKT, TLR1, TLR3, TNR, VEGFB, TPP2, TPR, TPT1, TRAF6, TRPC3, TRPC5, TSC1, TSC2, TUBA4A, UBC, UBE2V1, UBE3A, UCHL3, UNG, TMBIM6, TEAD1, PRDX2, TCF3, SLC9A5, SLC18A1, SLC18A3, SLC20A2, SLPI, SON, NAT2, SOS1, SP100, SPARC, SPG7, SPR, SRF, TRIM21, SSTR4, STAT1, STC1, ELOVL4, STX5, SULT1A3, SUPT4H1, SUPT5H, SYK, SYN1, SYT1, TAF1, TAF2, TAP1, CNTN2, VARS1, VGF, SKIL, USP14, RAB11A, ASAP2, NR1I2, SPHK1, SGPL1, MTMR2, ENDOU, CACNA1G, BSN, MBD2, HSPB3, KALRN, F2RL3, SPAG9, P2RX6, VRK2, SYNGR3, LPAR2, XPR1, NOG, TSPOAP1, PIWIL1, GPR55, KLF4, SLIT2, PPIG, PPT2, COX5A, SELENOF, CYP7B1, PABPC4, RNMT, EIF3A, USO1, VSNL1, WNT2, XBP1, XK, XPNPEP1, YY1, SLC30A3, RAB7A, BAG6, SLC39A7, TFPI2, ARHGEF5, NCOA4, AAAS, CLLS2, GAN, GDF5, TAM, USP9X, EPX, TRRAP, PICALM, BAP1, NR0B2, SUPT3H, OGT, KHSRP, AKR7A2, PRKRA, SLC5A2, SHH, NUDT1, PDE2A, P2RX3, P2RX4, P2RX5, P2RY1, PAEP, PRDX1, PAK1, PAK3, REG3A, PAWR, PAX6, PCBP1, PCBP2, PCSK1, PDE4D, PML, PDE9A, PDK1, SERPINF1, PEX6, PFDN5, SLC25A3, PHEX, PHF1, SERPINI1, PITX2, PLA2G2A, PLA2G5, PLAT, PLS3, P2RX1, OXT, OPRD1, OGG1, MTM1, ND3, ND5, MUTYH, MYOC, PPP1R12A, NACA, NAP1L2, NDN, NDUFAB1, NDUFS8, NEK1, NF2, NFKB1, NNAT, NME3, NQO2, NOS1, NOTCH1, NOTCH3, NOVA1, PNP, NPPA, NPY2R, NTF3, NTRK1, NTS, NR4A2, OGDH, PLXNA2, PMP22, SH3GL3, RPE, RAN, RAP1A, RARB, RARS1, RASA1, RASGRF1, RBBP6, OPN1LW, RELA, RENBP, RNASE4, BRD2, RORC, RPGR, RPS4X, PRRX1, RPS6KB1, RPS25, RPS27A, RREB1, RRM2, RXRA, S100A6, S100A9, S100A10, SCN8A, SCP2, SCT, SRSF7, ITSN1, RAB1A, QARS1, PTPRA, PTPN13, SEPTIN4, POLD1, POU3F2, POU3F4, PPARD, PPIA, PPID, PPP1CB, PPP2CA, PPP2R2B, PPP5C, PRKAR1B, PRKCA, PRKCB, PRKD1, MAPK9, MAP2K5, PRL, PROC, HTRA1, PSD, PSEN2, PSG5, PSMC1, PSMD1, PSMD8, PSMD12, PTK2, PTPN6, H3P17

Amyloidosis Orphanet

A vast group of diseases defined by the presence of insoluble protein deposits in tissues. Amyloidoses are classified according to clinical signs and biochemical type of amyloid protein involved. Clinical description Most amyloidoses are multisystemic, 'generalize' or 'diffuse'. Mainly affected are the kidneys, heart, GI tract, liver, skin, peripheral nerves and eyes, but any organ can be affected. Progression is usually severe, as affected organs are destroyed. There are a few forms of localized amylosis.

TTR, PSEN1, GSN, APP, ACHE, APOE, HMOX1, APOC3, ZDHHC13, APOC2, TNFRSF1A, CCND1, POLA1, B2M, BCHE, BDNF, NLRP3, PRNP, OSMR, CASP3, MME, CSF2, CST3, SAA2, MEFV, MAPT, LYZ, LIG4, LAMC2, IL6, IL1B, TREM2, IDE, BACE1, IAPP, SAA1, GFAP, APCS, TNF, AGER, SNCA, APOA1, NEFL, TGFBI, CLU, ADAM10, IL1A, SUCLA2, DPYD, IL4, NGF, NFE2L2, APOA2, LPAL2, ABCB1, BECN1, PPARG, NRGN, TARDBP, BIN1, BCL2, TLR4, MMP9, ABCA7, CTSD, DCLRE1B, LRP1, TYROBP, SIRT1, TGFB1, LECT2, CHI3L1, MOK, RELN, PSEN2, S100A9, TSPO, LEP, CTSB, SOD1, SYP, ALOX5, KHDRBS1, DLG4, MCIDAS, CAT, CRP, IGF1, FGA, SMUG1, NUP62, DCTN4, HP, S100B, GTF2H1, GSK3B, SOD2, AQP4, CHRNA4, VEGFA, PIK3CD, ABCB6, CDK5, PLG, SQSTM1, PIK3CG, PIK3CB, MAPK3, ITM2B, PIK3CA, SORL1, IL10, LPA, VSNL1, ROS1, RXRA, PTPRC, EGR1, PARP1, ALB, CD40, STS, TLR2, PLD3, CD36, GABPA, HTT, SDC1, PYCARD, SH2D1A, LINC01672, ACE, MAPK8, CNR2, MAP3K5, CYP46A1, TSHZ1, CD55, PINK1, SERPINA3, ADIPOQ, GRM5, HTRA1, MAPK1, TRPC6, DYSF, TYRP1, RNR2, UBQLN1, QPCT, NCAM1, NFIB, MMP2, HLA-DRB1, NFIA, HCRT, PPARA, HDAC3, UCHL1, ABCG1, MAP2, PTGS2, PPARGC1A, PDB1, LDLR, NFIC, LBP, TXN, DKK1, INSR, SYNM, NCSTN, IL17A, IL13, GH1, P2RX7, RBP4, IL1RN, MFAP1, PDE5A, NFIX, A2M, CD40LG, FYN, NGB, DDIT3, CRYAB, CD38, APLP2, C4BPA, MIR200A, ARG1, ESCO1, EPO, DDR1, CYLD, CALCA, FCGRT, FAP, DECR1, LRRK2, APRT, CR1, GCG, DYRK1A, CHRM3, GDNF, ECE1, EDN1, ACTB, DRD1, IGAN1, TNMD, CHAT, DPYSL2, BAX, MFT2, PCSK9, GCSAM, LRRTM3, STOX1, CDK5R1, SUMO4, GOLGA6A, OSTN, ANO5, LOC390714, ARHGEF7, DUOX2, CD163, UBR1, FSIP1, SV2A, SNAP91, MAGI2, ZEB2, KEAP1, UCN3, TOMM20, PCLAF, CLSTN3, HDAC9, CD109, ACTRT1, CARTPT, MAD2L1BP, BCAR1, GDF15, TRIM69, TMC4, GRAP2, TICAM1, RMDN2, DAB2IP, CRADD, MSC, SLC2A12, RAB11A, MIR137, MIR107, RIPK1, VWF, DEFB103A, VTN, DNM1P33, LOC643387, SCFV, VIP, SFTPA1, VDR, VCAM1, UTRN, NR1H2, C20orf181, BACE1-AS, OCLN, TYRO3, MICA, TMX2-CTNND1, LOC102723407, LOC102724971, LINC02210-CRHR1, UPK3B, HSP90B2P, TRAF6, LOC105379528, WNT1, XBP1, XK, AGPS, MIR132, URI1, WDR1, EIF3A, MIR15B, MIR181C, UNC5C, DENR, DEGS1, MIR29A, MIR29B1, CST7, LRP8, ULK1, AXIN1, PICALM, MIR29C, BAS, FXR1, PSCA, AIMP2, TFEB, PLA2G7, NPHS2, DBA2, PPIF, DGCR2, RAB21, TP53, HSPA14, DCDC2, GDE1, DUOX1, GSAP, DAPK2, TLR9, TREM1, QPCTL, DDAH1, ODAM, SLC25A38, RMDN3, RCBTB1, SYBU, SIRT3, USE1, DEFB103B, CRTC1, CTNNBL1, ARC, SLC17A7, ARL6IP1, TBC1D9, PRDX5, BACE2, RNF19A, ADIPOR1, SNX12, EEF2K, SNX8, FLVCR1, TMEM176B, F11R, IGKV2-29, IGKV3-20, ASCC1, PRLH, GAL, IGKV1D-8, SH2B1, IGKV3D-15, IGHV3-69-1, IGHV3OR16-7, APH1A, HTRA2, VPS4A, RMDN1, HSPB8, POLDIP2, SDF4, CHMP2B, KIF1B, SHANK2, HDAC5, ATF6, GPNMB, OLFM1, PRMT5, PHF6, RTN3, COL25A1, LILRB2, CALCOCO2, MFSD2A, ABI2, NAV3, CHRFAM7A, BMF, NLRP12, BMS1P20, OPTN, PRRT2, MBL3P, NR1H3, DNM1L, CDCA5, SH2D3C, TOM1, BCL2L11, PDCD6IP, CIB1, MAP1LC3B, KAT5, FERMT2, NLGN1, NLRP1, HPS5, CENPK, KLK8, WDHD1, TPPP, ABCG4, RIPK3, HHIP, SDS, STIP1, SLC8B1, CLEC7A, UBE2Z, EDAR, CARD14, MMEL1, CLDN16, PAGR1, TXNIP, EHMT1, AHSA1, ATG7, TPSG1, PPP3R1, CLDN5, EREG, NR5A1, MTOR, FPR1, FN1, FOXO1, FGF2, FCN2, EFEMP1, FAT1, FANCD2, F10, F3, ESR2, ESR1, EPHB2, TLR5, EPHA3, EPHA1, ELN, SERPINB1, EHHADH, E2F1, DUSP6, DPP4, DPEP1, DNMT3A, DNMT1, DNM1, DLX4, DLG2, GAST, FUS, G6PD, GALNS, HSPA9, HSPA4, HSF1, HSD11B1, FOXA2, NR4A1, HMGB1, HMBS, HLA-DMA, NRG1, HFE, HDAC2, GSK3A, CXCL2, GRM3, GRM2, GRIN2B, GRIN1, GRN, GRIA1, GPX1, GNA12, GEM, GDF2, GCHFR, GC, GATA6, GAS6, GAPDH, DES, DCX, DCN, C1QB, C1QBP, BSG, BRCA2, BGN, BCR, TNFRSF17, AVP, ATF4, SERPINC1, ARSA, ABCC6, FAS, APOA4, APLP1, BIRC3, APBB2, APAF1, ANXA5, ANXA1, ALOX15, ALOX12, AKT1, AIF1, AGTR1, AGT, ACAN, ACAT1, ABCA4, ABCA1, C1QA, C1QC, CYBB, C3, CTNND1, CSF3, CSE1L, MAPK14, CRMP1, CRK, CRHR1, CRH, CPB2, COL11A2, CLCN3, CHIT1, AKR1C4, CETN1, CEBPA, CDR1, CD74, CD68, CD33, CD19, CD14, RUNX1T1, CAV1, CASR, CASP1, CAMK2G, CAMK4, CACNA1C, C4BPB, HSP90AA1, HSPD1, HSPG2, MAPK12, S100A8, S100A6, SORT1, S100A1, RPL29, RHD, RET, RARB, PVALB, PTX3, PTGS1, MAP2K6, MAP2K1, PRKCB, PRKCA, PPY, PTPA, PPID, PPARD, POR, POLB, PMP22, PLK1, PLA2G4A, PITX3, PIN1, SERPINB9, SERPINB6, SLC25A3, SAA4, ATXN7, PAWR, SCD, TIMP1, TGFBR2, PRDX2, TAT, SYT1, SYN1, VAMP1, STK11, ST13, SST, TRIM21, SPRR2A, SPP1, SOAT1, SNCG, SMN2, SMN1, SLC6A3, SLC5A5, SLC1A3, PMEL, SH3GL2, SGCG, SRSF2, SEMG1, SELPLG, CXCL12, CCL5, SCT, SERPINF1, REG3A, HTR1B, MAZ, MAOA, MAG, TACSTD2, LTB, LNPEP, LMNB1, LIMK1, LCN2, LAIR1, KRAS, KLC1, KNG1, KIR3DL1, ITIH4, ITGAM, IRS1, PDX1, INS, CXCL10, ING1, IL18, IL12A, CXCR2, CXCL8, IL2, IFNG, IFNB1, ID2, HTR2A, MATN1, MBL2, SERPINE1, MBP, PAEP, P2RY2, P2RX4, OCA2, NTRK2, YBX1, SLC11A2, NPTX1, NPPA, NPC1, NPY, NOTCH1, NOS3, NFKB1, NEFH, NCF2, NAGLU, MYOC, COX1, MT3, ABCC1, MPZ, MPV17, MNAT1, MMP3, AFF1, MFGE8, DNAJB9, CHST6, H3P40

Amyloidosis Wikipedia

Musculoskeletal system [ edit ] Amyloid proteins deposit most commonly inside the knee, followed by hands, wrists, elbow, hip, and ankle, causing joint pain. [10] In males with advanced age (>80 years), there is significant risk of wild-type transthyretin amyloid deposition in synovial tissue of knee joint. ... Twenty percent of people with AL amyloidosis have an enlarged tongue , that can lead to obstructive sleep apnea , difficulty swallowing , and altered taste. [8] Tongue enlargement does not occur in ATTR or AA amyloidosis. [7] Deposition of amyloid in the throat can cause hoarseness. [7] Pathogenesis [ edit ] Main article: Amyloid Amyloidoses can be considered protein misfolding diseases. [12] [13] The vast majority of proteins that have been found to form amyloid deposits are secreted proteins , so the misfolding and formation of amyloid occurs outside cells, in the extracellular space. [12] Of the 37 proteins so far identified as being vulnerable to amyloid formation, only four are cytosolic . [12] Most amyloid-forming proteins are relatively small, but otherwise there is currently no evidence of structural or functional similarities among proteins known to form disease-associated amyloids. [12] One third of amyloid disease is hereditary, in which case there is normally an early age of onset. [12] Half of amyloid-related diseases are sporadic and have a late age of onset – in these cases, the protein aggregation may be associated with aging-related decline in protein regulation. ... Contains immunoglobulin light-chains (λ,κ) derived from plasma cells. 254500 AA SAA Serum amyloid A protein (SAA) is an acute-phase reactant that is produced in times of inflammation. Aβ β amyloid / APP Found in Alzheimer disease brain lesions. 605714 ALECT2 LECT2 In LECT2 amyloidosis , the LECT2 protein deposits in the kidneys and various other tissues but only kidneys show signs or symptoms; these are typical those of kidney failure. [22] ATTR transthyretin Transthyretin is a protein that is mainly formed in the liver that transports thyroxine and retinol binding protein. [7] A mutant form of a normal serum protein that is deposited in the genetically determined familial amyloid polyneuropathies . ... S2CID 41000320 . ^ Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S, et al. (February 2013). ... External links [ edit ] Classification D ICD - 10 : E85 ICD - 9-CM : 277.3 MeSH : D000686 DiseasesDB : 633 External resources eMedicine : med/3377 Patient UK : Amyloidosis Amyloidosis at Curlie v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 Authority control NDL : 00569790
Amyloidosis Mayo Clinic

Wild-type amyloidosis tends to affect men over age 70 and often targets the heart. It can also cause carpal tunnel syndrome. ... Risk factors Factors that increase the risk of amyloidosis include: Age. Most people diagnosed with amyloidosis are between ages 60 and 70.

Supranuclear Palsy, Progressive, 1 OMIM

Three family members were affected. At 37 years of age, the proband developed an akinetic-rigid syndrome, gait disturbance, frequent falls, micrographia, dysarthria, eyelid apraxia, abolition of upgaze, and hyperreflexia with unilateral extensor plantar response. ... Other variable features included tremor, retrocollis, limb dystonia, and favorable response to levodopa. Average age at onset was 66 years, and the mean survival was 5 to 6 years. ... Pathogenesis Van Leeuwen et al. (2006) detected aberrant frameshifted proteins, APP+1 (APP; 104760) and UBB+1 (UBB; 191339), within the neuropathologic hallmarks of Alzheimer disease (AD; 104300) and other MAPT-related dementias, including Pick disease, progressive supranuclear palsy, and less commonly frontotemporal dementia. Van Leeuwen et al. (2006) postulated that accumulation of APP+1 and UBB+1, which represents defective proteasome function, contributes to various forms of dementia. ... There was no difference between PSP cases with one H1 or two H1 alleles in the age of onset, severity, or survival of patients, thus showing that tau genotyping does not predict the prognosis of PSP.

MAPT, STX6, MOBP, EIF2AK3, SRSF2, TRA2B, SLCO1A2, TRIM11, SP1, PSPH, REG1A, SNCA, RIDA, STXBP3, MSMB, PSPN, TPO, CD8B, ASAP1, RUNX2, BPIFA2, PIK3C2G, IRF4, APOE, SLC6A3, TARDBP, LRRK2, NEFL, SOD1, CIT, C9orf72, CSF2, MAOB, GRN, LAMC2, DCTN1, STH, SMUG1, PRKN, UBB, PYCARD, NPC1, APP, TYMS, CRHR1, TH, TGM2, SLC25A38, ATXN2, GFAP, IGLON5, CST3, NPEPPS, VEGFA, RAB35, YWHAE, OGA, CXCR4, PICALM, NPC2, SNCAIP, BSN, MAP3K14, OPN1MW3, DUSP10, ARL17B, ROCK2, SCRN1, MAP4K4, NF1P1, UNC13A, DNAJB1P1, FLAD1, UBASH3B, SPECC1, FOXP2, RMDN2, ASXL1, MCIDAS, SETX, MIR132, MIR518E, GGTLC5P, GGTLC3, GGT2, OPN1MW2, CTNNBL1, SYBU, PSPC1, RMDN3, LRRC37A4P, TET2, TMEM106B, TREM2, LCMT1, PPME1, RMDN1, GGTLC4P, PSAT1, TBK1, CSDC2, LMOD1, SF3B1, MINK1, NAT1, TPI1, OPN1MW, FMR1, MTOR, FUS, GABPA, GABRG2, GBA, GGT1, EGFR, GLDC, GSTM1, NRG1, HSPA4, DNAJB1, IFNG, ERBB4, DLX1, IGFALS, CASP3, AP2A2, ANXA6, KLK3, BDNF, BNIP1, BRCA1, CBS, ACE, CDK5, CHI3L1, CLU, CRP, CTSS, CYP2D6, IGF1, IL2, TP53BP1, MAP2K4, PSEN2, PTEN, PTPRC, RAPSN, ROCK1, ATXN8OS, NAT2, PROS1, SPOCK1, SPP1, TCOF1, TGFB1, TGM1, TNF, PSEN1, PRNP, IL6, NR4A2, IRS1, MUSK, NFE2L2, NGF, NOS1, NSF, PAEP, PTPA, PAFAH1B1, PDK1, PIN1, PLAG1, PLCG2, PLXNA2, ATXN2-AS

Progressive Supranuclear Palsy Wikipedia

Medications such as levodopa and amantadine may be useful in some cases. [1] PSP affects about six people per 100,000. [1] The first symptoms typically occur in persons aged 60–70 years. Males are slightly more likely to be affected than females. [1] No association has been found between PSP and any particular race, location, or occupation. [1] Contents 1 Signs and symptoms 2 Cause 3 Pathophysiology 4 Diagnosis 4.1 Types 4.2 Differential diagnosis 5 Current management 5.1 Rehabilitation 6 Experimental treatments 7 Prognosis 8 History 9 Societies 10 In popular culture 11 See also 12 References Signs and symptoms [ edit ] The initial symptoms in two-thirds of cases are loss of balance, lunging forward when mobilizing, fast walking, bumping into objects or people, and falls. [3] [ citation needed ] Dementia symptoms are also initially seen in about one in five cases. [4] Other common early symptoms are changes in personality, general slowing of movement, and visual symptoms. ... Both Parkinson's and PSP have an onset in late middle age and involve slowing and rigidity of movement. ... The poor prognosis is predominantly attributed to the serious impact this condition has on the quality of life. [3] The average age at symptoms onset is 63 and survival from onset averages seven years with a wide variance. [54] Pneumonia is a frequent cause of death. [55] History [ edit ] In 1877, Charcot described a 40-year-old woman who had rigid-akinetic parkinsonism, neck dystonia, dysarthria, and eye-movement problems.
Parkinson-Dementia Syndrome OMIM

Examination of the brain in the sister, who died at age 31 years, showed neurofibrillary degeneration of the hippocampus, basal ganglia and brainstem nuclei. ... The authors suggested that the disorder most closely resembled the Parkinson-dementia complex of Guam (105500) but could be distinguished by the lack of Chamorro descent (a dubious argument) and the earlier age of onset. The legend for the pedigree presented as Figure 1 stated that the father and a cousin of his were 'neurologically affected' and the authors' concluding statement was as follows: 'Although the mode of inheritance of this disease appears to be autosomal dominant with low penetrance and expression, an autosomal recessive cannot be ruled out.' ... Rossi et al. (2004) reported a patient who developed antecollis, dysarthria, postural instability with falls, slowing of ocular movements, and increased deep tendon reflexes at age 36 years, consistent with atypical PSP. ... However, there were several asymptomatic heterozygous individuals in the family over the age of 60, which the authors attributed to reduced penetrance.
Progressive Supranuclear Palsy Mayo Clinic

Risk factors The only proven risk factor for progressive supranuclear palsy is age. The condition typically affects people in their late 60s and 70s. It's virtually unknown in people under the age of 40. Complications Complications of progressive supranuclear palsy result primarily from slow and difficult muscle movements.
Progressive Supranuclear Palsy Orphanet

A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Epidemiology Prevalence is conservatively estimated at about 1/16,600. Clinical description PSP usually manifests during the sixth or seventh decade of life. Five clinical variants have been described with clinicopathological correlations: Classical PSP (Richardson's syndrome), and four atypical variants of PSP including PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS), and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms). Richardson's syndrome is the most common clinical variant and manifests with a lurching gait, falls due to postural instability, cognitive impairment and slowing of vertical saccadic eye movements.
Supranuclear Palsy, Progressive, 3 OMIM

Mapping Using a pooling-based genomewide association study of more than 500,000 SNPs in 288 patients with PSP and 344 age- and sex-matched controls, Melquist et al. (2007) identified candidate SNPs with large differences in allelic frequency by ranking all SNPs by their probe-intensity difference between cohorts. ... Since DNA damage and lysosomal dysfunction have been implicated in aging and neurodegenerative processes, Melquist et al. (2007) considered both genes to be viable candidates for conferring risk of disease.
Supranuclear Palsy, Progressive, 2 OMIM

For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 (601104). Clinical Features De Yebenes et al. (1995) studied a 5-generation Spanish family in which progressive supranuclear palsy was transmitted as an autosomal dominant trait. The proband had the classic presentation of this disorder beginning with axial rigidity, slowness of movement, and gait difficulty. Over the course of 2 years he progressed to complete vertical gaze palsy, axial dystonia, and retrocollis, as well as generalized severe akinesia. Postmortem examination demonstrated neuronal loss and atrophy of the brainstem, cerebellum, and diencephalon.
Progressive Supranuclear Palsy GARD

PSP is often misdiagnosed as Parkinson disease due to similar symptoms. Onset is usually after age 60 but may occur earlier. Most cases of PSP appear to be sporadic , but familial cases have been reported.
Classic Progressive Supranuclear Palsy Syndrome Orphanet

Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. Epidemiology The prevalence is conservatively estimated at about 1/16,600. Clinical description PSP usually manifests during the sixth or seventh decade of life with postural instability and falls, slowing of vertical saccadic eye movements and cognitive slowing. Progressively patients develop other eye abnormalities (dry and red eyes, blurred vision, spontaneous involuntary eyelid closure, photophobia), a dysexecutive cognitive syndrome with impulsivity, problems in speech (slow speech) and a supranuclear gaze palsy and difficulties in swallowing. The disease is characterized neuropathologically by gliosis with astrocytic plaques, accumulation of tau-immunoreactive neurofibrillary tangles and neuronal loss in specific brain areas, especially in the subthalamic nucleus and the substantia nigra.