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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.

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.

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 .

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

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.

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 .

Epileptic Encephalopathy, Early Infantile, 45 OMIM

The patient had onset of seizures at age 12 months and showed developmental regression at age 35 months. ... Lien et al. (2016) reported a 32-month-old boy with severe developmental delay and hypotonia who developed refractory epilepsy at age 3 months. Brain imaging was normal. ... In vitro functional studies in HEK293 cells showed that the mutation altered the kinetic properties of the channel, resulting in the net loss of GABAergic inhibition. In a boy with EIEE45, Lien et al. (2016) identified a de novo heterozygous missense mutation in the GABRB1 gene (T287I; 137190.0002).

GABRB1

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" .

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.

Malaria Mayo Clinic

To reduce malaria infections, world health programs distribute preventive drugs and insecticide-treated bed nets to protect people from mosquito bites. The World Health Organization has recommended a malaria vaccine for use in children who live in countries with high numbers of malaria cases. Protective clothing, bed nets and insecticides can protect you while traveling. ... The World Health Organization estimates that about 94% of all malaria deaths occur in Africa — most commonly in children under the age of 5. Malaria deaths are usually related to one or more serious complications, including: Cerebral malaria. ... Do not use products with oil of lemon eucalyptus (OLE) or p-Menthane-3,8-diol (PMD) on children under age 3. Apply repellent to clothing. Sprays containing permethrin are safe to apply to clothing. Sleep under a net. Bed nets, particularly those treated with insecticides, such as permethrin, help prevent mosquito bites while you are sleeping.

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Malaria, Susceptibility To OMIM

Rihet et al. (2004) surveyed 256 individuals (71 parents and 185 sibs) from 53 families in Burkina Faso over 2 years and found that hemoglobin C carriers were found to have less frequent malaria attacks than AA individuals within the same age group (P = 0.01). Analysis of individual hemoglobin alleles yielded a negative association between Hb C and malaria attack (P = 0.00013). ... The association study tested 10 putative resistance variants in 471 severe malaria cases (mean age 2.6 years) and 474 controls (mean age 16.9 years) from the Luo tribe, who live in a malaria-endemic region of Kenya. ... Although the relative strength of the protection is less than that of the sickle-cell variant, the greater frequency of the DQB1 (see HLA-DQB1; 604305) polymorphism makes the net effect on resistance to malaria comparable. ... Sjoberg et al. (1992) found that levels of antibody to a major malarial antigen developing in individuals living in northern Liberia, where malaria is holoendemic and perennial, were more concordant within monozygotic twin pairs than in dizygotic pairs or in age- and sex-matched sibs living under similar environmental conditions. ... In a study of 66 hospitalized Zambian children less than 6 years of age with uncomplicated P. falciparum malaria, Zhang et al. (2018) observed the Q248H mutation in 19.7% (12 heterozygotes, 1 homozygote).
Malaria Orphanet

A life-threatening parasitic disease caused by Plasmodium ( P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
Malaria GARD

Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly. Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.
Malaria Wikipedia

The mosquitoes remain on the wall until they fall down dead on the floor. Insecticide treated nets [ edit ] A mosquito net in use. Mosquito nets help keep mosquitoes away from people and reduce infection rates and transmission of malaria. Nets are not a perfect barrier and are often treated with an insecticide designed to kill the mosquito before it has time to find a way past the net. Insecticide-treated nets are estimated to be twice as effective as untreated nets and offer greater than 70% protection compared with no net. [73] Between 2000 and 2008, the use of ITNs saved the lives of an estimated 250,000 infants in Sub-Saharan Africa. [74] About 13% of households in Sub-Saharan countries owned ITNs in 2007 [75] and 31% of African households were estimated to own at least one ITN in 2008. ... That number increased to 20.3 million (18.5%) African children using ITNs in 2007, leaving 89.6 million children unprotected [76] and to 68% African children using mosquito nets in 2015. [77] Most nets are impregnated with pyrethroids , a class of insecticides with low toxicity . ... According to the WHO and UNICEF, deaths attributable to malaria in 2015 were reduced by 60% [77] from a 2000 estimate of 985,000, largely due to the widespread use of insecticide-treated nets and artemisinin-based combination therapies. [74] In 2012, there were 207 million cases of malaria.

Gerontophobia Wikipedia

Part of a series on Discrimination General forms Age Class ( Caste ) Physical Disability Education Economic Employment Genetics Hair texture Height Housing Language Looks Race / Ethnicity / Nationality Rank Religion Sanity Sex Sexual orientation Size Skin color Specific forms Social Acephobia Adultism Amatonormativity Anti-albinism Anti-autism Anti-homelessness Anti-intellectualism Anti-intersex Anti-left handedness Anti-Masonry Antisemitism (Judeophobia) Aporophobia Audism Biphobia Clannism Cronyism Drug use Elitism Ephebiphobia Fatism Gerontophobia Heteronormativity Heterosexism HIV/AIDS stigma Homophobia Leprosy stigma Lesbophobia Misandry Misogyny Nepotism Pedophobia Perpetual foreigner Pregnancy Reverse Sectarianism Supremacism Black White Transphobia Non-binary Transmisogyny Vegaphobia Xenophobia Religious Ahmadiyya Atheism Baháʼí Faith Buddhism Catholicism Christianity post–Cold War era Druze Falun Gong Hinduism Persecution Islam Persecution Jehovah's Witnesses Judaism Persecution LDS or Mormon Neopaganism Eastern Orthodox Oriental Orthodox Copts Protestantism Rastafarianism Shi'ism Sufism Sunnism Zoroastrianism Ethnic/national African Albanian American Arab Armenian Australian Austrian Azerbaijani British Canadian Catalan Chechen Chilean Chinese Croat Dutch English Estonian European Filipino Finnish French Georgian German Greek Haitian Hazara Hispanic Hungarian Igbo Indian Indonesian Iranian Irish Israeli Italian Japanese Jewish Khmer Korean Kurdish Malay Manchu Mexican Middle Eastern Mongolian Montenegrin Pakistani Pashtun Polish Portuguese Quebec Romani Romanian Russian Scottish Serb Slavic Somali Soviet Tatar Thai Tibetan Turkish Ukrainian Venezuelan Vietnamese Western Manifestations Blood libel Bullying Compulsory sterilization Counter-jihad Cultural genocide Defamation Democide Disability hate crime Dog-whistle politics Eliminationism Ethnic cleansing Ethnic conflict Ethnic hatred Ethnic joke Ethnocide Forced conversion Freak show Gay bashing Gendercide Genital modification and mutilation Genocide examples Glass ceiling Hate crime Hate group Hate speech online Homeless dumping Indian rolling Lavender scare LGBT hate crimes Lynching Mortgage Murder music Occupational segregation Persecution Pogrom Purge Red Scare Religious persecution Religious terrorism Religious violence Religious war Scapegoating Segregation academy Sex-selective abortion Slavery Slut-shaming Trans bashing Victimisation Violence against women White flight White power music Wife selling Witch-hunt Policies Age of candidacy Blood purity Blood quantum Crime of apartheid Disabilities Catholic Jewish Ethnocracy Ethnopluralism Gender pay gap Gender roles Gerontocracy Gerrymandering Ghetto benches Internment Jewish quota Jim Crow laws Law for Protection of the Nation McCarthyism MSM blood donation restrictions Nonpersons Numerus clausus (as religious or racial quota) Nuremberg Laws One-drop rule Racial quota Racial steering Redlining Same-sex marriage (laws and issues prohibiting) Segregation age racial religious sexual Sodomy law State atheism State religion Ugly law Voter suppression Countermeasures Affirmative action Anti-discrimination law Cultural assimilation Cultural pluralism Diversity training Empowerment Feminism Fighting Discrimination Hate speech laws by country Human rights Intersex rights LGBT rights Masculism Multiculturalism Nonviolence Racial integration Reappropriation Self-determination Social integration Toleration Related topics Allophilia Anti-cultural, anti-national, and anti-ethnic terms Bias Christian privilege Civil liberties Cultural assimilation Dehumanization Diversity Ethnic penalty Eugenics Internalized oppression Intersectionality Male privilege Masculism Medical model of disability autism Multiculturalism Net bias Neurodiversity Oikophobia Oppression Police brutality Political correctness Polyculturalism Power distance Prejudice Prisoner abuse Racial bias in criminal news Racism by country Religious intolerance Second-generation gender bias Snobbery Social exclusion Social model of disability Social stigma Stereotype threat The talk White privilege v t e Gerontophobia is the fear of age-related self-degeneration (similar to Gerascophobia ), or a hatred or fear of the elderly due to memento mori . The term comes from the Greek γέρων – gerōn , "old man" [1] and φόβος – phobos , "fear". [2] Contents 1 Ageism 2 See also 3 References 4 External links Ageism [ edit ] Discriminatory aspects of ageism have been strongly linked to gerontophobia . [3] This irrational fear or hatred of the elderly is associated with the fact that someday all young people including oneself will be old inevitably and suffer from the irreversible health decline that comes with old age , which is associated with disability , disease and death . The sight of aged people is a reminder of death ( memento mori ) and inevitable biological vulnerability. ... External links [ edit ] AGEISM AND AGING UP: A Q and A with Mariah MedFriendly Age Wave v t e Discrimination General forms Age Caste Class Disability Education Economic Employment Genetic Hair texture Height Housing Language Looks Race / Ethnicity / Nationality Rank Sanity Sex Sexual orientation Size Skin color Social Acephobia Adultism Amatonormativity Anti-albinism Anti-autism Anti-homelessness Anti-intellectualism Anti-intersex Anti-left handedness Anti-Masonry Antisemitism (Judeophobia) Aporophobia Audism Biphobia Clannism Cronyism Drug use Elitism Ephebiphobia Fatism Gerontophobia Heteronormativity Heterosexism HIV/AIDS stigma Homophobia Leprosy stigma Lesbophobia Misandry Misogyny Nepotism Pedophobia Perpetual foreigner Pregnancy Reverse Sectarianism Supremacism Black White Transphobia Non-binary Transmisogyny Vegaphobia Xenophobia Religious Ahmadiyya Atheism Baháʼí Faith Buddhism Catholicism Christianity post–Cold War era Falun Gong Hinduism Persecution Islam Persecution Jehovah's Witnesses Judaism Persecution LDS or Mormon Neopaganism Eastern Orthodox Oriental Orthodox Protestantism Rastafarianism Shi'ism Sufism Zoroastrianism Ethnic/National African Albanian American Arab Armenian Australian Austrian British Canadian Catalan Chilean Chinese Croat Dutch English Estonian European Filipino Finnish French Georgian German Greek Haitian Hazara Hindu Hispanic Hungarian Igbo Indian Indonesian Iranian Irish Israeli Italian Japanese Jewish Khmer Korean Kurdish Malay Manchu Mexican Middle Eastern Mongolian Pakistani Pashtun Polish Portuguese Quebec Romani Romanian Russian Scottish Serb Slavic Somali Soviet Tatar Thai Turkish Ukrainian Venezuelan Vietnamese Western Manifestations Blood libel Bullying Compulsory sterilization Counter-jihad Cultural genocide Defamation Democide Disability hate crime Dog-whistle politics Eliminationism Enemy of the people Ethnic cleansing Ethnic conflict Ethnic hatred Ethnic joke Ethnocide Forced conversion Freak show Gay bashing Gendercide Genital modification and mutilation Genocide examples Glass ceiling Hate crime Hate group Hate speech Homeless dumping Indian rolling Lavender scare LGBT hate crimes Lynching Mortgage Murder music Native American sports mascots Occupational segregation Persecution Pogrom Purge Red Scare Religious persecution Religious terrorism Religious violence Religious war Scapegoating Segregation academy Sex-selective abortion Slavery Slut-shaming Trans bashing Victimisation Violence against women White flight White power music Wife selling Witch-hunt Discriminatory policies Age of candidacy Blood purity Blood quantum Crime of apartheid Disabilities Catholic Jewish Ethnocracy Ethnopluralism Gender pay gap Gender roles Gerontocracy Gerrymandering Ghetto benches Internment Jewish quota Jim Crow laws Law for Protection of the Nation McCarthyism MSM blood donation restrictions Nonpersons Numerus clausus (as religious or racial quota) Nuremberg Laws One-drop rule Racial quota Racial steering Redlining Same-sex marriage (laws and issues prohibiting) Segregation age racial religious sexual Sodomy law State atheism State religion Ugly law Voter suppression Countermeasures Affirmative action Anti-discrimination law Cultural assimilation Cultural pluralism Diversity training Empowerment Feminism Fighting Discrimination Hate speech laws by country Human rights Intersex rights LGBT rights Masculism Multiculturalism Nonviolence Racial integration Reappropriation Self-determination Social integration Toleration Related topics Allophilia Anti-cultural, anti-national, and anti-ethnic terms Bias Christian privilege Civil liberties Cultural assimilation Dehumanization Diversity Ethnic penalty Eugenics Internalized oppression Intersectionality Male privilege Masculism Medical model of disability autism Multiculturalism Net bias Neurodiversity Oikophobia Oppression Police brutality Political correctness Polyculturalism Power distance Prejudice Prisoner abuse Racial bias in criminal news Racism by country Religious intolerance Second-generation gender bias Snobbery Social exclusion Social model of disability Social stigma Stereotype threat The talk White privilege Category

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

Maple Syrup Urine Disease GeneReviews

Acute metabolic decompensation is corrected by treating the precipitating stress while delivering sufficient calories, insulin, free amino acids, isoleucine, and valine to achieve sustained net protein synthesis in tissues. Some centers use hemodialysis/hemofiltration to remove BCAAs from the extracellular compartment, but this intervention does not alone establish net protein accretion. ... Signs of deepening encephalopathy including lethargy, intermittent apnea, opisthotonus, and stereotyped movements such as "fencing" and "bicycling" are evident by age four to five days. Coma and central respiratory failure may occur by age seven to ten days, sometimes before newborn screening results are available. ... Following the neonatal period, acute metabolic intoxication (leucinosis) and neurologic deterioration can develop rapidly at any age as a result of net protein degradation precipitated by infection, surgery, injury, or psychological stress (see Figure 1). ... Plasma leucine levels rise predictably as a result of net protein catabolism provoked by a variety of physiologic stresses, including (more...) ... Coronal T 2 -weighted MRI from a Mennonite boy age five years during an acute metabolic crisis.

DBT, BCKDHB, BCKDHA, BCAT2, PPM1K, DLD, ARID4B, BDNF, CTSD, SERPINE1, TNS3, CACNA2D2, MKRN3, UMOD, SPN, NME1, PAH, NBN, MEA1, IL1B, GPR4, GLI2, F2, MECP2

Maple Syrup Urine Disease Wikipedia

The majority of children with intermediate MSUD are diagnosed between the ages of 5 months and 7 years. Symptoms associated with classic MSUD also appear in intermediate MSUD. [4] Intermittent MSUD [ edit ] Contrary to classic and intermediate MSUD, intermittent MSUD individuals will have normal growth and intellectual development. ... This procedure is most successful when performed at a young age, and weaning from immunosuppressants may even be possible in the long run.
Maple Syrup Urine Disease, Mild Variant OMIM

She was started on an MSUD diet, and showed normal psychomotor development without metabolic episodes. At age 21, she worked as a nurse and had an IQ of 90.
Maple Syrup Urine Disease Orphanet

A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD. Epidemiology The estimated prevalence is around 1/150,000 live births, from published and unpublished newborn screening data. Clinical description Classic MSUD presents in the first days of life with poor feeding and drowsiness followed by a worsening encephalopathy with lethargy, intermittent apnea, stereotypic movements ("fencing" and ''bicycling") and opisthotonus. Coma and central respiratory failure supervene 7 to 10 days after birth.
Maple Syrup Urine Disease GARD

Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. This leads to the build-up of toxic substances that can cause organ and brain damage. There are several forms of MSUD. The most common is the classic or infantile form. Symptoms of the classic form of MSUD start in early infancy and include poor feeding, irritability, extra sleepiness, and muscle spasms. If untreated, respiratory failure (lack of oxygen getting to the blood) may occur.

Mutyh Polyposis GeneReviews

Surveillance: Colonoscopy with polypectomy every one to two years beginning at age 25-30 years; upper endoscopy and side viewing duodenoscopy every three months to four years beginning at age 30-35 years with subsequent follow up based on initial findings. ... The risk was found to be higher in one study, with median age at diagnosis 53 years (range 45-76) [Vogt et al 2009]. ... Two of 15 probands with familial NET of the small intestine and four of 215 individuals with nonfamilial NET of the small intestine were heterozygous for MUTYH pathogenic variant p.Gly396Asp [Dumanski et al 2017]. It is unclear if a heterozygous MUTYH pathogenic variant is a risk factor for NET or ACC, as the risk of NET or ACC in individuals with biallelic MUTYH pathogenic variants appears to be quite low. ... NCCN [2019] guidelines propose that MUTYH heterozygotes with a first-degree relative with CRC (who does not have MAP) undergo colonoscopy every five years beginning at age 40 years or ten years prior to the age of the first-degree relative's age at CRC diagnosis.

Rahman Syndrome OMIM

Clinical Features Tatton-Brown et al. (2017) reported 5 unrelated patients, ranging in age from 1.9 to 16 years, with mild to severe intellectual disability associated with variable somatic overgrowth, including height, weight, and/or head circumference. ... Additional features, each found only in 1 or 2 patients, included kyphoscoliosis, camptodactyly, talipes equinovarus, advanced bone age, dental anomalies, skin nevi, strabismus, astigmatism, and amblyopia. ... The truncated proteins were predicted to have a reduced net charge compared to the wildtype protein, rendering them likely to be less effective in neutralizing negatively charged linker DNA. ... INHERITANCE - Autosomal dominant GROWTH Height - Increased birth length - Increased height Weight - Increased birth weight - Increased weight HEAD & NECK Head - Large head circumference Face - Full cheeks Eyes - Telecanthus - Strabismus - Amblyopia - Astigmatism ABDOMEN Gastrointestinal - Poor feeding in the neonatal period SKELETAL - Advanced bone age Spine - Kyphoscoliosis Hands - Camptodactyly Feet - Talipes equinovarus SKIN, NAILS, & HAIR Skin - Nevi MUSCLE, SOFT TISSUES - Hypotonia, neonatal - Hypertonia, neonatal NEUROLOGIC Central Nervous System - Delayed development - Intellectual disability, mild to severe MISCELLANEOUS - Highly variable features - De novo mutation MOLECULAR BASIS - Caused by mutation in the histone gene cluster 1, H1 histone family, member E gene (HIST1H1E, 142220.0001 ) ▲ Close

H1-4

Hist1h1e Syndrome GeneReviews

Motor milestones were notably delayed, with range of walking independently between ages 15 and 66 months (mean 31 months) [Flex et al 2019]. ... Hypothyroidism was a frequent (and possibly under-reported) finding. Ages of testing of thyroid function ranged from infancy to late childhood. ... Prognosis There is no evidence currently that life expectancy is reduced in HIST1H1E syndrome. The oldest reported individual is age 49 years [Flex et al 2019]. However, as many adults with disabilities do not have ready access to genetic testing, it is likely that adults with this condition are underrecognized and underreported. ... In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs. Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. ... At each visit Psychiatric/ Behavioral Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior, as developmentally appropriate for age Neurologic Monitor those w/seizures as clinically indicated.
Rahman Syndrome GARD

Rahman syndrome is a genetic syndrome that includes mild to severe intellectual disability and an increase in height, weight, or head size (overgrowth). The overgrowth is more apparent in infancy and may lessen with time. Other symptoms may include curved fingers, eyes that may not line up in the same direction (strabismus), and facial features such as full cheeks and an increase in the distance between the eyes. The syndrome is caused by changes (mutations) in the HIST1H1E gene. The protein made from the HISTH1E gene helps control which genetic information is turned on (expressed) at any given time. Only one copy of the HIST1H1E gene needs to have a disease-causing genetic change to have Rahman syndrome, which is consistent with an autosomal dominant condition. However, most of the reported cases of Rahman syndrome have not been inherited from the parents, but have been caused by a genetic change that happens by mistake during the making of the egg or sperm (de novo).

Epilepsy, Progressive Myoclonic, 10 OMIM

The proband, who was the most severely affected, developed school difficulties, dysarthria, and myoclonus at age 5 years. She then developed seizures, ataxia, bladder incontinence; she became mute by age 12 and was wheelchair-bound by age 14. At age 34, she was bedridden and unresponsive, with spastic tetraplegia. ... Studies in patient tissues showed no net change in glycogen synthase (see, e.g., GYS1, 138570) activity, indicating that polyglucosan formation was not related to glycogen synthase.

PRDM8

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.

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.

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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, 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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

Yellow Fever Orphanet

Management and treatment As there is presently no antiviral drug available for YF, treatment is supportive, following the guidelines for treatment of severe septicemia. Insecticide-treated bed nets and/or room screens should be used in open-air settings to prevent further transmission. ... YF-17D is indicated for persons over 9 months of age who are traveling to or living in YF endemic areas. Vaccination is contraindicated in children <4 months old and pregnant women and caution is advised in persons with egg allergy, the immunocompromised, children 4-9 months of age and elderly persons, especially if the risk is minimal, such as trips restricted to attending conferences in modern urban hotels with no rural exposure.

ERVK-32, ERVK-6, DDOST, PARTICL, TRIM56, CYP20A1, EMC3, TRAV12-2, BACE1, AMACR, TRPA1, TFPI, RPL19, RAF1, CRP, MRC1, IL10, IL6, IL1RN, IFNG, IFNAR1, GYPC, GPT, GLS, FCGR3B, FCGR3A, F10, MAP2K1

Epithelial Recurrent Erosion Dystrophy OMIM

The disorder became manifest between 4 and 6 years of age. Recurring ulcerations are also seen in macular and lattice types of classic dystrophy. ... Affected individuals presented within the first decade of life with corneal erosions that occurred approximately every 2 to 3 months. With increasing age, the erosions became much less frequent, and the episodes appeared to cease in the third decade of life. ... Most patients had onset of symptoms between 6 and 7 years of age, although 3 patients reported late onset and 2 family members were asymptomatic despite characteristic corneal changes. ... Examination revealed characteristic diffuse subepithelial opacities in the paracentral cornea, sometimes showing a net-like pattern with raised areas of Salzmann degeneration, and the opacities tended to increase with age. ... Patients presented between 5 and 7 years of age, and episodes of erosions decreased in frequency over time, subsiding in the third to fourth decade.

COL17A1, TGFBI, TRIB1, DNAJC9, TAS2R14