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Meningioma Wikipedia

She died on August 13, 2012, of complications related to her treatment. [42] Eileen Ford (1922–2014), American model agency executive and co-founder of Ford Models . ... PMID 17695387 . ^ Taylor BW, Marcus RB, Friedman WA, Ballinger WE, Million RR (August 1988). ... "A multiresolution clinical decision support system based on fractal model design for classification of histological brain tumours".

NF2, AKT1, BAP1, SMARCB1, PDGFB, SMARCE1, PTEN, SUFU, MLLT10, WRN, PGR, SMO, TRAF7, KLF4, HES1, CST3, CSTB, CTSL, ALAD, PIK3CA, ARMC5, DNMT1, CHEK2, NF1, KRIT1, CCM2, MIB1, SEC23B, TERT, MN1, MKI67, SDHD, MMP9, VEGFA, CDKN2A, GNAS, TP53, PDCD10, NTHL1, EPB41L3, KLLN, ESR1, EGFR, SDHB, SST, SDHC, LMNA, ERBB2, LOC110806263, SSTR2, EGF, MMP2, STAT3, PIK3CB, CTNNB1, IGF2, PIK3CD, PIK3CG, CD274, AZIN2, MEN1, PLAU, TP73, GADL1, CTSB, CASP3, MTHFR, TIMP1, PTGS2, ARHGAP24, IL6, FGF2, MGMT, MTOR, NDRG2, MIA2, MB, HTC2, GSTT1, MDM2, H3P10, MAPK1, TGFA, TIMP3, ABCB1, CCND1, CD44, BCL2, MAPK3, S100B, AQP4, CASP8, APC, ACKR3, MEG3, BCR, MCM7, PRDM2, XRCC1, TOP2A, HOXA9, CDKN2C, EDN1, SPP1, ATM, IGF1, ASL, PTPRJ, AQP1, LEPR, HPGDS, MIR29C, TNC, TGFB1, S100A1, PLAUR, ODC1, PCNA, SFRP1, ACTB, CDH1, FOS, AP1B1, PDGFRB, MYC, MTRR, CD34, EPHB2, PLG, TGM2, GSTP1, TIMP2, SPARC, HIF1A, TXNIP, IL1B, CCL2, IGFBP5, GNRH1, EEF1E1, GSTM1, CXCL12, PTTG1, YAP1, SLC9A3R1, DLC1, RAD54L, RPS6KB1, RB1, NR3C1, MAFK, KDR, MYCN, PON1, POLR2A, MSH2, VIM, COX2, MUC1, IGF2BP1, RAC1, UBE2I, UBE2D1, PDCD1, NOS2, NOTCH1, NOTCH2, THBS1, KMT2A, MLH1, MIF, PTGDS, TAT, XRCC3, STAT6, YWHAZ, CXCR4, MCM2, PTN, SMAD4, PTX3, LGALS3, STMN1, LAMC2, GJA1, ZNF197, GFAP, ATRAID, CADM1, BSG, ERBB3, CA9, CTAG1A, CAV1, CCK, CCND2, TPPP2, EIF4A2, CD68, PRAP1, EDNRB, LAMTOR1, MIR200A, TCHP, DCC, CDKN2B, CYP2D6, CXCL16, MINDY4, CFL1, CKS2, CTAG1B, CXCR6, WNK2, CSF2, CD276, BRCA1, EPB41, H3P12, AHR, FOXM1, FAS, FGF9, AP2B1, AR, ALPL, BIRC5, ANPEP, MIR224, FGFR3, ETV6, MIR219A1, RASSF1, MTCO2P12, DOT1L, TNF, MIR205, CLDN5, MAK16, TRP-AGG2-6, SLC25A21, TLR4, DPP9, PGR-AS1, BRIP1, LINC02210-CRHR1, TYMS, CAMKMT, H3P47, KCNH6, MAP1LC3B, SMARCA1, H3P9, TYK2, TTR, MNS16A, TXNRD1, SESN2, TXN, HIRA, TLE3, FSCN1, MTDH, NEK9, TCF12, TUBB, MIR34A, C10orf53, H19, TDO2, TCN2, ZEB1, ZBTB7C, TCEA1, ZAR1, LINC01194, MIR145, MIR21, MIR190A, TGFB3, MIR335, TJP1, SOX10, SOAT1, FAT3, SOD3, RBM45, NKX2-1, PLB1, CBLL2, THY1, TMEM30B, TRPV3, SP100, IDO2, DHFR2, RHBDF2, UCHL1, VHL, MUL1, PART1, CD163, SRRM2, TSPAN12, SMUG1, SRSF11, SNHG1, LARGE1, KIF4A, CLDN1, AIP, PPM1D, PROM1, CFLAR, EGFL6, IL18R1, ADAM23, TNKS, TP63, PSMG1, LGR5, RPL13A, ADIPOQ, SYNM, SEC31A, MRPL28, OGA, NES, SUB1, RALBP1, MSLN, PMEL, UBE2C, EBI3, CORO1A, KIF20A, PPIF, TSPAN2, DNM1L, ABCC5, HNRNPDL, KIF14, PIEZO1, AKAP12, LMO4, TIPARP, UCN, VSIR, NDC1, DIABLO, PNO1, XDH, ADAMTSL3, TXNDC16, WT1, TRPV4, LRRC4, TRPV1, RASAL1, PDLIM2, VIP, MMP25, EZR, NDRG4, MLPH, HMGN5, VDR, VDAC2, SMG8, YY1, DPP8, ARID4B, TAGLN2, PLA2G6, DKK3, RBMS3, TMEM97, AXIN1, SETD2, ARID1A, NXT1, RACGAP1, CLTCL1, TCL1A, PSCA, BICRA, TFPI2, KCNIP3, EXOSC3, PLA2G7, WWOX, SIX1, A1BG, SGK1, GH1, EIF4A1, EDNRA, DVL3, DUSP2, DSP, DRD1, DPP4, DMD, DHCR24, DEFB1, DEFA5, DDX3X, GADD45A, DCX, DCT, CD55, DAB2, CYP19A1, CYP1B1, CYP1A1, CYC1, CXADR, CX3CR1, CTLA4, CCN2, VCAN, CSF3, EIF4E, EIF4G1, EIF5A, F13A1, GAPDH, GABPA, FOLR1, FLT1, FGFR1, FGF13, FCGR3B, FCGR3A, FCER1G, FASN, FBLN1, FAP, F3, ELAVL1, ETS1, ETFA, ERCC5, ERCC4, ERCC2, ERBB4, EPO, EPHA1, EPAS1, ENO2, ENG, ELAVL4, CRYAB, CRHR1, CLDN7, ARNT, CALM3, CALM2, CALM1, CALCA, CAPN5, C1QBP, BRCA2, BRAF, BMP4, BCL6, ATP5F1B, STS, AREG, RUNX3, AQP5, KLK3, APOE, APOA1, ANG, ALOX5, ALDH1A3, ALDH1A1, AGTR2, JAG1, ADCYAP1R1, ABCA2, CAPN1, CBS, CPA1, CDK6, COX8A, KLF6, COL5A1, COL1A2, CNR1, CMM, CCR6, CETN3, CETN2, CENPF, CDKN1C, CDKN1A, CDK4, CCKAR, CDK2, CDC25A, CDK1, CD81, CD70, CD69, CD63, CD33, CD9, CD8A, CCNB1, CCKBR, GCG, GJB2, SFRP4, GLI1, PLA2G2A, PLA2G1B, PGF, PDGFRA, PDGFA, PAX5, PRKN, PAK1, SERPINE1, NAT2, OGN, OMD, NT5E, NPY2R, NOS3, NOS1, NME1, NFKB1, NFE2L2, NBN, MUTYH, MMUT, MUC4, MTR, COX1, MSN, MSH3, PODXL, POLD1, PPARA, PTK2, SET, CX3CL1, SAI1, S100A10, S100A6, S100A4, ROS1, RFC1, RDX, RANBP2, RAC3, PTPRC, PTHLH, PPID, PTGS1, PTGER4, PTCH1, PTBP1, KLK6, PROP1, PRLR, PRL, MAPK8, PRKCD, PRELP, PTPA, ABCC1, MMP11, MMP1, HOXA3, IGFBP7, IGFBP6, IGFBP2, IGF1R, IFNB1, IFNA2, HSF1, HRAS, HPRT1, HOXD@, HOXA10, HOXA7, HOXA@, IL13, HNRNPC, HLA-DRB1, HLA-DQB1, HLA-A, HGF, HFE, GSTM3, GSC2, GRB2, GPX1, GOT2, GNRHR, IL2, IDO1, MME, LTBP2, CD99, MET, MEIS1, MDM4, MDK, MCM6, MCM5, MCM4, MCM3, MAPT, SMAD2, SMAD1, CYP4F3, ING2, LGALS1, LEP, KRAS, KIFC1, KIF11, KCNMA1, JAK3, JAK2, JAK1, ITGB1, ITGA3, INS, OPHN1
- Meningioma GARD
  
  Meningioma s are tumors that originate in the meninges , the membranes that surround the brain and spinal cord. Most meningiomas are not cancerous ( benign ), though a minority of meningiomas can be classified as atypical or cancerous ( malignant ). Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if their growth affects neighboring areas of the brain. Though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. Signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss.
- Meningioma Orphanet
  
  A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control. Epidemiology In adults, intracranial meningiomas represent approximately 30% of central nervous system tumors. The male to female ratio is 1:3.5. Clinical description Whilst meningioma may appear at any age, it is predominantly diagnosed between the third and sixth decade of life. Meningiomas typically appear as broad-based dural hemispheric or oval lesions, attached to the dura mater.
- Meningioma Mayo Clinic
  
  Overview A meningioma is a tumor that arises from the meninges — the membranes that surround the brain and spinal cord. Although not technically a brain tumor, it is included in this category because it may compress or squeeze the adjacent brain, nerves and vessels. Meningioma is the most common type of tumor that forms in the head. Most meningiomas grow very slowly, often over many years without causing symptoms. But sometimes, their effects on nearby brain tissue, nerves or vessels may cause serious disability. Meningiomas occur more commonly in women and are often discovered at older ages, but they may occur at any age.
- Meningioma, Radiation-Induced OMIM
  
  Following radiotherapy, secondary cancer may occur after a long latent period. Zattara-Cannoni et al. (2001) reported cytogenetic studies of 6 cases of radiation-induced meningiomas. Two of the cases occurred after radiation for tinea capitis, after an interval of 17 and 54 years, respectively; in the first of these cases, local recurrence occurred after an additional period of 29 years. Using spectral karyotyping (SKY) and comparative genomic hybridization (CGH), Zattara-Cannoni et al. (2001) found that all 6 cases had the same chromosome abnormality, t(1;22)(p11;q12). They suggested that a gene on chromosome 1p11 is involved in radiation-induced meningiomas.
Alcohol Myopia Wikipedia

Alcohol myopia is a cognitive - physiological theory on alcohol abuse in which many of alcohol 's social and stress -reducing effects, which may underlie its addictive capacity, are explained as a consequence of alcohol's narrowing of perceptual and cognitive functioning. The alcohol myopia model [1] posits that rather than disinhibit, alcohol produces a myopia effect that causes users to pay more attention to salient environmental cues and less attention to less salient cues. ... Drunk driving [ edit ] The Alcohol Myopia Model proposes that intoxication increases the likelihood that an individual will decide to drive in an unsafe situation. ... ISBN 978-1-4292-4228-8 . ^ Giancola, Duke & Ritz, "Alcohol, violence, and the alcohol myopia model; Preliminary findings and implications for prevention" Elsevier ,2011 ^ a b c d e f Lac, Andrew; Berger, DE (September 2013). ... PMID 14647967 . S2CID 25817991 . ^ Schmitt, WA; CA Brinkley; JP Newman (1999). "Testin Demasio's somatic marker hypothesis with psychopathic individuals: risk takers or risk averse?".
Noma (Disease) Wikipedia

PMID 12655218 . ^ a b c Enwonwu CO, Falkler WA, Phillips RS (July 8, 2006). "Noma (cancrum oris)". ... Saunders Book Company, 062008. 5.11.2 ^ Barmes DE, Enwonwu CO, Leclercq MH, Bourgeois D, Falkler WA (1997). "The need for action against oro-facial gangrene (noma)".
- Noma Orphanet
  
  Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. Epidemiology Its exact prevalence is unknown. The disease was present in the Western world up until the start of the 20th century, but it now mainly affects children between 2 and 6 years of age living in the poorest regions of the world. Rare cases of noma have been described in adults with severe immunodeficiency (individuals with AIDS or myelopathy, or those being treated with immunosuppressants) in Africa and in the Western world. Clinical description In addition to the severe facial destruction, children with noma often present with rhinolalia aperta, uncontrollable drooling, and socially handicapping halitosis. The most debilitating sequela is permanent jaw constriction. Spontaneous resolution of the disease is associated with the formation of extremely dense and fibrous scars that may lead to osseous ankylosis between the mandible and maxilla or the mandible and the malar bone.
Takayasu's Arteritis Wikipedia

Journal of General Internal Medicine . 29 (7): 1072–1073. doi : 10.1007/s11606-013-2695-7 . ISSN 0884-8734 . PMC 4061346 . PMID 24408276 . ^ a b John Barone, M.D.

ACVR2B, GDF1, DNAH1, PKD1L1
- Right-Sided Aortic Arch Wikipedia
  
  Right-sided aortic arch Anterior-posterior chest radiograph showing a right-sided aortic arch Chest radiograph showing a right-sided aortic arch, lateral view Right-sided aortic arch is a rare anatomical variant in which the aortic arch is on the right side rather than on the left. During normal embryonic development , the aortic arch is formed by the left fourth aortic arch and the left dorsal aorta. In people with a right-sided aortic arch, instead the right dorsal aorta persists and the distal left aorta disappears. Contents 1 Symptoms 2 Pathophysiology 3 Diagnosis 3.1 Classification 4 Management 5 Epidemiology 6 See also 7 References 8 External links Symptoms [ edit ] A right-sided aortic arch does not cause symptoms on itself, and the overwhelming majority of people with the right-sided arch have no other symptoms. However when it is accompanied by other vascular abnormalities, it may form a vascular ring , causing symptoms due to compression of the trachea and/or esophagus . [1] Pathophysiology [ edit ] The causes of right-sided aortic arch are still unknown, 22q11 deletions have been found in some people with this condition. [2] It has also been found in association with other genetic syndromes such as Trisomy 21 (Down syndrome).
Ngly1 Deficiency Wikipedia

In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Lam C, Wolfe L, Need A, Shashi V, Enns G (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.

NGLY1, PGM1, ENGASE
- Congenital Disorder Of Deglycosylation OMIM
  
  A number sign (#) is used with this entry because congenital disorder of deglycosylation (CDDG) is caused by homozygous or compound heterozygous mutation in the NGLY1 gene (610661) on chromosome 3p24. Description Congenital disorder of deglycosylation is an autosomal recessive multisystem disorder characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. Other common features include microcephaly, intractable seizures, abnormal eye movements, and evidence of liver dysfunction. Liver biopsy shows cytoplasmic accumulation of storage material in vacuoles (summary by Enns et al., 2014). For a discussion of the classification of congenital disorders of glycosylation, see CDG1A (212065).
- Deficiency Of N-Glycanase 1 GARD
  
  Deficiency of N-glycanase 1 (NGLY1 deficiency) is a complex neurological syndrome in which there is a deficiency of an enzyme known as N-glycanase 1 (NGLY1). This enzyme normally helps the body remove proteins that are not functioning properly. The typical features of NGLY1 deficiency include abnormal tear production, a movement disorder (choreoathetosis), and liver disease. Additional features may include developmental delay, hypotonia (weak muscle tone), peripheral neuropathy , EEG abnormalities, and a small head size (microcephaly). The condition is caused by mutations in the N-glycanase 1 gene ( NGLY1 gene ) and is inherited in an autosomal recessive manner.
- Ngly1-Congenital Disorder Of Deglycosylation MedlinePlus
  
  NGLY1 -congenital disorder of deglycosylation ( NGLY1 -CDDG) is an inherited condition that affects many parts of the body. The severity of the signs and symptoms varies widely among people with the condition. Individuals with NGLY1 -CDDG typically develop features of the condition during infancy. They often have delayed development of speech and motor skills, such as sitting and walking, and weak muscle tone (hypotonia). Many affected individuals have movement abnormalities, such as uncontrolled movements of the limbs (choreoathetosis), and some develop seizures that are difficult to treat.
- Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome Orphanet
  
  A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.
- Ngly1-Related Congenital Disorder Of Deglycosylation GeneReviews
  
  Pre-clinical screens for Endo-Beta-N-Acetylglucosaminidase (ENGase) inhibitors are underway [Bi et al 2017]. Large-scale compound screens on model organisms and cell lines are being evaluated.
Salla Disease Wikipedia

. ^ Online Mendelian Inheritance in Man (OMIM): 604322 ^ Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA (2004). "Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity" .

SLC17A5, GNE, CEACAM5, MATN1, VEGFA, RENBP, CD274, HPGDS, SGCB, TAF2, TGFB1, ZFPM2-AS1, TNF, EFL1, PCGF2, ZBTB16, PER2, ADIPOQ, KDM5A, DLL3, BACE1, RETN, LAMP3, APP, PIK3CD, PIK3CG, ATP7A, CALB2, CASP3, CD28, CDKN2B, CHIT1, DBH, DCC, DCX, EPO, ERBB2, GH1, HSP90AA1, IFNG, IDO1, LEP, LSAMP, NPY, PIK3CA, PIK3CB, LOC108281177
Andermann Syndrome Wikipedia

.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.

SLC12A6, ACACA, BMS1
- Agenesis Of The Corpus Callosum With Peripheral Neuropathy OMIM
  
  Howard et al. (2002) determined that a 1-bp deletion (2436delG) was a founder mutation in the French Canadian population. Animal Model Howard et al. (2002) found that mice with a targeted deletion of the Slc12a6 gene had a locomotor deficit, peripheral neuropathy, and a sensorimotor gating deficit, similar to the human disease.
- Hereditary Motor And Sensory Neuropathy With Agenesis Of The Corpus Callosum GeneReviews
  
  Summary Clinical characteristics. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years. Diagnosis/testing. The diagnosis of HMSN/ACC is established in a proband with suggestive findings and biallelic pathogenic variants in SLC12A6 identified by molecular genetic testing.
- Andermann Syndrome GARD
  
  Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia ; hypotonia; amyotrophy ; severe progressive weakness and loss of sensation in the limbs; and tremors . Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy).
- Corpus Callosum Agenesis-Neuronopathy Syndrome Orphanet
  
  Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
- Andermann Syndrome MedlinePlus
  
  Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum ) also occurs in most people with this disorder. People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and rhythmic shaking (tremors). They typically begin walking between ages 3 and 4 and lose this ability by their teenage years.
Myotonic Dystrophy Wikipedia

Erythromycin has been used successfully in patients with gastric issues. [21] Altered splicing of the muscle-specific chloride channel 1 (ClC-1) has been shown to cause the myotonic phenotype of DM1 and is reversible in mouse models using Morpholino antisense to modify splicing of ClC-1 mRNA . [22] Physical activity [ edit ] There is a lack of high-quality evidence to determine the effectiveness and the safety of physical activities for people who have myotonic dystrophy. [23] Further research is required to determine if combined strength and aerobic training at moderate intensity is safe for people who have neuromuscular diseases, however the combination of aerobic and strength exercises may increase muscle strength. [24] [23] Aerobic exercise via stationary bicycle with an ergometer may be safe and effective in improving fitness in people with DM1. [25] Cardiovascular impairments and myotonic sensitivities to exercise and temperature necessitate close monitoring of people and educating people in self-monitoring during exercise via the Borg scale , heart rate monitors , and other physical exertion measurements. [26] Orthotics [ edit ] Muscular weakness of dorsiflexors ( dorsiflexion ) hinders the ability to clear the floor during the swing phase of gait and people may adopt a steppage gait pattern [26] or ankle-foot- orthotics may be indicated. [9] Factors such as hand function, skin integrity, and comfort must be assessed prior to prescription. ... "Repeat instability during DNA repair: Insights from model systems" . Crit. Rev. Biochem. Mol. ... Myotonic Dystrophy Type 2 . Seattle (WA): University of Washington, Seattle. ... "Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy" . J. Clin.

DMPK, CNBP, NKX2-5, CELF1, MBNL1, CCT3, APOC2, INSR, SIX5, CKM, ERCC1, CLCN1, FXN, RANGAP1, PRKCA, HCRT, PRRT2, DMD, BUB1, PRKCB, POMC, NEK6, DMWD, MAPT, ACTB, CEBPD, MBNL2, SCN4A, TNF, QPCT, KCNN3, TNNI3, IGHD1-7, MSH3, UGT8, OXA1L, PLCB1, PGD, SCN5A, CDC42BPB, ALB, RAN, REM1, TNNT1, GH1, FSD1L, FSD1, BCL3, APOC1, MIR206, BIN1, GSK3B, CLIP2, MAK16, GGTLC1, RIDA, BPIFA2, OPN1MW3, OPN1MW2, SLC35G1, ROCK2, WASL, MTMR1, C9orf72, CTCF, CDC42BPA, DYSF, ST8SIA4, MIR29C, CELF2, RAB6B, FAM107B, ASB2, TNFRSF12A, TP53, RBFOX1, NAT10, IGHD1-14, DESI1, RBMS3, PDLIM3, FGF21, PNO1, ATRNL1, JPH3, MMD, CELF6, SRRM2, GGCT, ASRGL1, SPEN, LDB3, RSPH6A, RAB1B, CCL27, RAP2B, TCF4, CYP2B6, KCNQ1, IL6, IGLC3, GPR4, GHRH, OPN1MW, GC, FRAXE, FEN1, F5, DDX6, DDX5, CYP2A13, MEF2A, CYP2A7, CYP2A6, CDC42, CD59, CCND3, ATP1A3, ATHS, ARF3, APOE, AMPH, AMH, ALPP, LDLR, MEF2C, SYN1, PSPH, STXBP3, SRF, SLPI, SLC1A2, SRSF2, ATXN1, CLIP1, RRAS, ROCK1, REG1A, RAP1B, PTBP1, PSPN, ATXN3, PRNP, PRKCG, PRKAB1, PRKAA2, PRKAA1, PEPD, MYOG, MTM1, MSMB, MSH2, MRC1, MLH1, LOC102724197
- Myotonic Dystrophy GARD
  
  Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing ( myotonia ) and are not able to relax certain muscles after use.
Werner Syndrome Wikipedia

SB203580 is in the clinical trial stages, and the same results have not yet been seen in vivo . [44] In 2010, vitamin C supplementation was found to reverse the premature aging and several tissue dysfunctions in a genetically modified mouse model of the disease. Vitamin C supplementation also appeared to normalize several age-related molecular markers such as the increased levels of the transcription factor NF-κB . ... This cloning of the WRN was significant because it revealed the predicted WRN protein was made from a family of DNA helicases . [20] Prior to 1996, Werner syndrome was thought to be a model for accelerated aging. Since the discovery of the gene, it has become clear that the premature aging displayed in Werner syndrome is not the same, on a cellular level, as normal aging. ... (eds.). GeneReviews™ [Internet] . Seattle WA: University of Washington, Seattle. ... In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. ... "Vitamin C restores healthy aging in a mouse model for Werner syndrome" . FASEB J . 24 (1): 158–72. doi : 10.1096/fj.09-137133 .

WRN, BLM, HFM1, TP53, PARP1, RECQL4, LMNA, SERPINE1, FEN1, RAD51, POLB, XRCC6, IGFBP3, FN1, AHSA1, PRKAR1A, H2AX, GRAP2, PCNA, RECQL5, MRE11, XRCC5, EFEMP1, TGFB1, RECQL, MLH1, AIMP2, GYPA, MAPK1, ATR, WRNIP1, RNF19A, CRK, MAPK14, POLDIP2, SLC35G1, TAGLN, RAC1, MIR200C, CHD9, TFRC, APLF, BRIP1, TERT, GTF2IRD2, RPS3, PIWIL4, SSRP1, TOP3A, SLC20A1, SLC2A1, RPS6KA3, TIMP1, MON2, NEIL1, SIRT6, MMRN1, SAMHD1, RBPMS, PRPF19, DDX46, POLL, DESI1, EXD3, ENOSF1, ADIPOQ, PIWIL1, EXO1, CES2, DHX16, RAD54L, DDX19A, SUMO1, ABL1, PPP2CB, PPARG, GOLGA3, GCK, MTOR, FGFR1, FANCD2, EWSR1, ERCC4, ERCC1, DNA2, DKC1, DHX9, ACE, DCN, COL3A1, CKMT2, CDKN2A, CDC42, CAT, CASP1, CALCA, BRCA1, ATM, APOA1, APEX1, ANK1, HOXA@, HOXA1, HOXA3, KDR, POU1F1, POLD1, PLIN1, PLG, ACTB, OGG1, NBN, MYC, MECP2, MBNL1, LIG4, INSR, HOXA4, IL1B, IL1A, IGF2, ICAM1, HOXA13, HOXA11, HOXA10, HOXA9, HOXA7, HOXA6, HOXA5, H3P10
- Werner Syndrome GeneReviews
  
  Summary Clinical characteristics. Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.
- Werner Syndrome OMIM
  
  Kyng et al. (2003) concluded that Werner syndrome may be a good model for normal aging and that both processes are linked to altered transcription. ... Fluorescence in situ hybridization placed the POLB gene centromeric to D8S135 at 8p11.2, beyond the region of peak lod scores for Werner syndrome. Animal Model Lombard et al. (2000) generated mice bearing a mutation that eliminated expression of the C terminus of the helicase domain of the WRN protein. ... Lombard et al. (2000) considered possible models for the synergy between p53 and WRN mutations for the determination of life span.
- Werner Syndrome Orphanet
  
  Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. Epidemiology The prevalence among Japanese and Sardinian populations is estimated to be 1/50,000 due to the presence of founder mutations. Prevalence in other populations is unknown, but may be around 1/200,000. Clinical description WS patients are normal at birth and during childhood, apart from the absence of a pubertal growth spurt. WS presents between the ages of 20 and 30 with major symptoms of early onset bilateral cataracts, thinning and graying of the hair, short stature and skin changes (ankle ulceration, hyperkeratosis, tight skin, age spots, ''bird-like'' facies and subcutaneous atrophy).
- Werner Syndrome MedlinePlus
  
  Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin. They may also have a facial appearance described as "bird-like." Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition.
- Werner Syndrome GARD
  
  Werner syndrome is a condition that causes premature aging. People with this syndrome will develop and grow normally until puberty. At puberty, growth stops and adults with Werner syndrome are typically shorter than average. By the early 20s-30s, people with this syndrome develop conditions usually associated with more advanced ages. In addition, people with Werner syndrome have an increased risk of developing cancer, especially thyroid and skin cancers. Heart attack and cancer are the most common causes of death. Werner syndrome is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner.
Spinocerebellar Ataxia Wikipedia

Beverly Davidson has been working on a methodology using RNAi technology to find a potential cure for over 2 decades. [28] Her research began in the mid-1990s and progressed to work with mouse models about a decade later and most recently has moved to a study with non-human primates. ... "Repeat instability during DNA repair: Insights from model systems" . Crit. Rev. Biochem. Mol. ... In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Stephens, Karen; Amemiya, Anne (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle. ... In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993). GeneReviews [Internet] . Seattle WA: University of Washington, Seattle.
Dopamine Beta Hydroxylase Deficiency Wikipedia

.; Fong, Chin-To; Mefford, Heather C. (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle. ... "Dopamine D1 receptor agonist and D2 receptor antagonist effects of the natural product (-)-stepholidine: molecular modeling and dynamics simulations" . Biophysical Journal . 93 (5): 1431–41.

DBH, ATOX1, CYB561, NPY, TH
- Orthostatic Hypotension 1 OMIM
  
  A number sign (#) is used with this entry because orthostatic hypotension-1 (ORTHYP1) due to congenital dopamine beta-hydroxylase deficiency is caused by homozygous or compound heterozygous mutation in the DBH gene (609312) on chromosome 9q34. Genetic Heterogeneity of Orthostatic Hypotension See also ORTHYP2 (618182), caused by mutation in the CYB561 gene (600019) on chromosome 17q11. Clinical Features Robertson et al. (1986) reported a 33-year-old woman of Scottish-Irish descent with isolated failure of autonomic noradrenergic neurotransmission caused by a defect in the beta-hydroxylation of dopamine in peripheral nerves. Clinical features included orthostatic hypotension, ptosis, nasal stuffiness, and a neonatal history of delayed eye opening. From age 2 years, she had had episodes of syncope, especially after exercise, and marked ptosis.
- Dopamine Beta Hydroxylase Deficiency GARD
  
  Dopamine beta hydroxylase deficiency is a disease which affects the body’s ability to regulate blood pressure and body temperature. Symptoms typically begin in late childhood and include vomiting, dehydration, low blood pressure, especially upon standing ( orthostatic hypotension ), and low blood sugar levels ( hypoglycemia ). Low blood pressure can also cause dizziness, blurred vision, and difficulty exercising. Other symptoms may include drooping eyelids (ptosis), nasal congestion, muscle pain, and weakness. Dopamine beta hydroxylase deficiency is caused by mutation in the DBH gene and is inherited in an autosomal recessive manner.
- Dopamine Beta-Hydroxylase Deficiency GeneReviews
  
  Summary Clinical characteristics. Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function but normal parasympathetic and sympathetic cholinergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function that predispose to orthostatic hypotension. Although DBH deficiency appears to be present from birth, the diagnosis is not generally recognized until late childhood. The combination of ptosis of the eyelids in infants and children, together with hypotension, is suggestive of the disease. In the perinatal period, DBH deficiency has been complicated by vomiting, dehydration, hypotension, hypothermia, and hypoglycemia requiring repeated hospitalization; children have reduced exercise capacity.
- Dopamine Beta-Hydroxylase Deficiency MedlinePlus
  
  Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia). Individuals with dopamine β-hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. This sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older. People with dopamine β-hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure.
- Dopamine Beta-Hydroxylase Deficiency Orphanet
  
  Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.
Kindling (Sedative–hypnotic Withdrawal) Wikipedia

Ethanol (alcohol) has a very similar mechanism of tolerance and withdrawal to benzodiazepines, involving the GABA A receptors , NMDA receptors and AMPA receptors , but the majority of research into kindling has primarily focused on alcohol. [6] An intensification of anxiety and other psychological symptoms of alcohol withdrawal also occurs. [10] Treatment [ edit ] Failure to manage the alcohol withdrawal syndrome appropriately can lead to permanent brain damage or death. [11] Acamprosate , a drug used to promote abstinence from alcohol, an NMDA antagonist drug, reduces excessive glutamate activity in the central nervous system and thereby may reduce excitotoxicity and withdrawal related brain damage. [12] [13] See also [ edit ] Kindling model References [ edit ] ^ a b Stephens, DN.; Duka, T. ... Ther . 98 (2): 171–95. doi : 10.1016/S0163-7258(03)00029-9 . PMID 12725868 . ^ Hunt, WA. (1993). "Are binge drinkers more at risk of developing brain damage?"
Giant Cell Arteritis Wikipedia

. ^ a b c Mackie, SL; Dejaco, C; Appenzeller, S; Camellino, D; Duftner, C; Gonzalez-Chiappe, S; Mahr, A; Mukhtyar, C; Reynolds, G; de Souza, AWS; Brouwer, E; Bukhari, M; Buttgereit, F; Byrne, D; Cid, MC; Cimmino, M; Direskeneli, H; Gilbert, K; Kermani, TA; Khan, A; Lanyon, P; Luqmani, R; Mallen, C; Mason, JC; Matteson, EL; Merkel, PA; Mollan, S; Neill, L; Sullivan, EO; Sandovici, M; Schmidt, WA; Watts, R; Whitlock, M; Yacyshyn, E; Ytterberg, S; Dasgupta, B (1 March 2020). ... PMID 16987903 . ^ Mackie, SL; Dejaco, C; Appenzeller, S; Camellino, D; Duftner, C; Gonzalez-Chiappe, S; Mahr, A; Mukhtyar, C; Reynolds, G; de Souza, AWS; Brouwer, E; Bukhari, M; Buttgereit, F; Byrne, D; Cid, MC; Cimmino, M; Direskeneli, H; Gilbert, K; Kermani, TA; Khan, A; Lanyon, P; Luqmani, R; Mallen, C; Mason, JC; Matteson, EL; Merkel, PA; Mollan, S; Neill, L; Sullivan, EO; Sandovici, M; Schmidt, WA; Watts, R; Whitlock, M; Yacyshyn, E; Ytterberg, S; Dasgupta, B (1 March 2020). ... OCLC 663444979 . ^ " giant cell arteritis " at Dorland's Medical Dictionary External links [ edit ] Mackie, SL; Dejaco, C; Appenzeller, S; Camellino, D; Duftner, C; Gonzalez-Chiappe, S; Mahr, A; Mukhtyar, C; Reynolds, G; de Souza, AWS; Brouwer, E; Bukhari, M; Buttgereit, F; Byrne, D; Cid, MC; Cimmino, M; Direskeneli, H; Gilbert, K; Kermani, TA; Khan, A; Lanyon, P; Luqmani, R; Mallen, C; Mason, JC; Matteson, EL; Merkel, PA; Mollan, S; Neill, L; Sullivan, EO; Sandovici, M; Schmidt, WA; Watts, R; Whitlock, M; Yacyshyn, E; Ytterberg, S; Dasgupta, B (1 March 2020).

PTPN22, HLA-DRB1, HLA-DRB9, PLG, P4HA2, RBM45
Spinal And Bulbar Muscular Atrophy Wikipedia

Spinal and Bulbar Muscular Atrophy . Seattle (WA): University of Washington, Seattle. ... "Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach". Journal of Medical Genetics : jmedgenet–2020–106963. doi : 10.1136/jmedgenet-2020-106963 . ... S2CID 73301743 . ^ Merry, D. E. (2005). "Animal Models of Kennedy Disease" . NeuroRx . 2 (3): 471–479. doi : 10.1602/neurorx.2.3.471 .

AR
- Kennedy Disease Orphanet
  
  Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. Epidemiology The prevalence of BSMA is 1/30,000 male births. The incidence is 1/526,315 males/year. Clinical description Disease onset occurs between 30-60 years of age. Initial clinical manifestations include tremor, muscle cramps, muscle twitching, fatigue and slurred speech. With disease progression patients additionally develop weakness and wasting of the limb and bulbar muscles, manifesting as dysarthria, dysphonia, hanging jaw, tongue wasting, chewing difficulty and impaired mobility.
Alport Syndrome Wikipedia

For those with classic Alport syndrome, hearing aids are often required in teenage or young adult years. [ citation needed ] Prognosis [ edit ] Studies of the life expectancy of patients with Alport syndrome are rare, but one 2012 study of 456 male patients from across Europe who received a kidney transplant found that they had somewhat increased life expectancy compared to matched controls (the controls were "randomly selected from the same age, year, and modality categories"). [23] See also [ edit ] AMMECR1 Samoyed hereditary glomerulopathy , a disease shown to be a model for Alport syndrome. [24] Fechtner syndrome References [ edit ] ^ "Diseases of the Kidney: Alport Syndrome" . ... In Adam MP, Ardinger HH, Pagon RA, et al. (eds.). Gene Reviews . Seattle (WA): University of Washington, Seattle. ^ a b Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, et al. ... "Cyclosporine a slows the progressive renal disease of alport syndrome (X-linked hereditary nephritis): results from a canine model" . Journal of the American Society of Nephrology . 14 (3): 690–8. doi : 10.1097/01.ASN.0000046964.15831.16 .

COL4A3, MYH9, COL4A5, COL4A4, COL4A2, ACE, FCGRT, ZNF185, B3GAT1
Erythropoietic Protoporphyria Wikipedia

Annals of Hematology . 89 (7): 743–4. doi : 10.1007/s00277-009-0859-7 . PMID 19902211 . S2CID 36170513 . ^ Kong, Xiao-Fei; Ye, Jing; Gao, De-Yong; Gong, Qi-Ming; Zhang, Dong-Hua; Lu, Zhi-Meng; Lu, Yi-Ming; Zhang, Xin-Xin (2008-02-01).

FECH, AREG, BTC, EREG, ABCG2, ALAS2, ALAS1, SLC25A37, POMC, UROD, CLPX, GDF15, SUCLA2, TNFSF14, UROS, TFRC, TXNRD1, TXN, SMARCA4, PPOX, HMOX1, HMBS, CD38, HAMP
- Autosomal Erythropoietic Protoporphyria GARD
  
  Erythropoietic protoporphyria (EPP) is a type of porphyria . Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by pathogenic variants (mutations) in the FECH gene which lead to an impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen.
- Protoporphyria, Erythropoietic, 1 OMIM
  
  Haplotype analysis suggested that the mutation occurred after the population had moved out of Africa. Animal Model In a mutagenesis experiment using ethylnitrosourea in mice, Tutois et al. (1991) recovered a viable autosomal recessive mutation (named fch, or ferrochelatase deficiency).
- Autosomal Erythropoietic Protoporphyria Orphanet
  
  Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. Epidemiology EPP has been reported worldwide, with prevalence ranging between 1/75,000 and 1/200,000. Clinical description EPP usually manifests in early infancy upon the first exposure to sun. EPP is characterized by cutaneous manifestations of acute painful photosensitivity with erythema and edema, sometimes with petechiae, together with stinging and burning sensations without blistering, upon exposure to sunlight or artificial light (400-700 nm). These episodes have a variable severity depending on the exposure duration and may result in chronic permanent lesions on exposed skin.
Hiv/aids In Namibia Wikipedia

Namibia: State of the Nation’s Health: Findings from the Global Burden of Disease. Seattle, WA: IHME, 2016. ^ a b c d e f Ministry of Health and Social Services. (2015). ... Namibia: State of the Nation’s Health: Findings from the Global Burden of Disease. Seattle, WA: IHME, 2016. ^ Ministry of Health and Social Services, Directorate of Special Programmes, Results of the 2008 HIV Sentinel Survey, 2008 ^ http://www.pepfar.gov/countries namibia/index.htm "2008 Country Profile: Namibia".
Merrf Syndrome Wikipedia

.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle. ... In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Mefford, Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.

TRNL1, TRNP, TRNF, TRNK, ND5, TRNI, IL1A, TRNS2, TRNS1, TRNH, RNR1, IL1B, TRNQ, TRNT, TK2, POLG, HSPB2, HSPB3, HSPB1, MMP1, NAE1, EPM2A, TNFSF10, CARS2, RARS2, COQ8A, COQ9, TRMU, FGF21, PRPF6, AFG3L2, SOD2, COX5A, SPG7, ACTB, RFX3, PRKCD, PLXNA2, OPA1, AHSG, COX2, ATP6, CSTB, CPOX, COX8A, CLN5, CLN3, TPP1, CA8, SLC25A4, MTCO2P12
- Myoclonic Epilepsy Associated With Ragged-Red Fibers OMIM
  
  The clinical spectrum was considered compatible with the proportionality model of mutant and wildtype mtDNAs. Serum levels of pyruvate or pyruvate and lactate were elevated.
- Myoclonic Epilepsy With Ragged-Red Fibers MedlinePlus
  
  Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal.
- Merrf GeneReviews
  
  Genetic therapy through the delivery of mitochondrially targeted zinc finger nucleases delivered by an adeno-associated virus has been studied in mouse models with mitochondrial disorders. The mutational load decreased by 20% in treated animals, and biochemical phenotypes were reversed [Gammage et al 2018].
- Myoclonic Epilepsy With Ragged Red Fibers GARD
  
  Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus , which is often the first symptom, followed by generalized epilepsy , ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy , and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome . The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF).
- Merrf Orphanet
  
  MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures. Epidemiology The prevalence in the general population of Europe has been estimated at 0.9 in 100 000, but the disease seems to be more common in the USA. Clinical description Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. A few cases have been associated with lipomatosis, cardiomyopathy, pigmentary retinopathy, ophthalmoparesis and/or pyramidal signs. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia.
- Cardiomyopathy And Deafness Due To Trna Lysine Gene Mutation GARD
  
  A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.
Factor Xii Deficiency Wikipedia

. ^ Zeerleder S, Schloesser M, Redondo M, Wuillemin WA, Engel W, Furlan M, Laemmle B (1999).

F12, BRAF, GRK6, MGAT2, MAP2K1, PTPN11, COX8A, F5, F11, CFH, KNG1, PLG, VWF, PGAP1
- Factor Xii Deficiency OMIM
  
  Both compound heterozygous patients and a homozygous patient lacked immunologic reactive protein. Animal Model Renne et al. (2005) found that F12-deficient mice, like F12-deficient humans, had normal bleeding times and no spontaneous bleeding.
- Factor Xii Deficiency GARD
  
  Factor XII deficiency is an inherited disorder that affects a protein (factor XII) involved in blood clotting. While a lack of factor XII does not cause affected individuals to bleed abnormally, the blood takes longer than normal to clot in a test tube. The condition is usually discovered when prolonged clotting is noticed in the process of running other laboratory tests. Factor XII deficiency is caused by mutations in the F12 gene. It is inherited in an autosomal recessive manner.
- Congenital Factor Xii Deficiency Orphanet
  
  A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
Pmm2 Deficiency Wikipedia

In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews® . Seattle (WA): University of Washington, Seattle.

PMM2, PMM1, MPI, LEMD3, AHCY, GYPA, GYPB, GYPE, OGA, ALG6
- Pmm2-Cdg (Cdg-Ia) GeneReviews
  
  Summary Clinical characteristics. PMM2-CDG ( CDG-Ia ) (previously known as congenital disorder of glycosylation type 1a), the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three types: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability. The three types notwithstanding, clinical presentation and course are highly variable, ranging from infants who die in the first year of life to mildly involved adults. Clinical presentations tend to be similar in sibs. In the infantile multisystem type, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding problems, vomiting, failure to thrive, and impaired growth are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region.
- Congenital Disorder Of Glycosylation, Type Ia OMIM
  
  ., 1989), but this is a misnomer since the serum protein abnormality is not limited to sialic acid or to transferrin (Jaeken, 1990). Animal Model Schneider et al. (2012) generated transgenic mice with homozygous or compound heterozygous hypomorphic Pmm2 alleles: R137H, which is analogous to human R141H (601785.0001), and F118L, which is predicted to lead to mild loss of enzyme activity.
- Pmm2-Cdg (Cdg-Ia) GARD
  
  Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family. Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal distribution of fat, strabismus, developmental delay, failure to thrive , seizures, and distinctive facial features. About 20 percent of affected infants do not survive the first year of life due to multiple organ failure. The most severe cases of CDG-Ia are characterized by hydrops fetalis .
- Pmm2-Cdg Orphanet
  
  PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
- Pmm2-Congenital Disorder Of Glycosylation MedlinePlus
  
  PMM2 -congenital disorder of glycosylation ( PMM2 -CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2 -CDG vary widely among affected individuals, sometimes even among members of the same family. Individuals with PMM2 -CDG typically develop signs and symptoms of the condition during infancy. Affected infants may have weak muscle tone (hypotonia), retracted (inverted) nipples, an abnormal distribution of fat, eyes that do not look in the same direction (strabismus), developmental delay, and a failure to gain weight and grow at the expected rate (failure to thrive). Infants with PMM2 -CDG also frequently have an underdeveloped cerebellum , which is the part of the brain that coordinates movement.