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11 Possible Causes for All Reported Mutations Have Occurred De Novo, Optic Atrophy

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  • Optic Atrophy

    optic atrophy.[symptoma.com] Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov] A 21-year-old man with thalassemia intermedia presented with progressive decrease in vision and was found to have severe bilateral optic atrophy.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Mental Retardation 28

    Dominant optic atrophy. Orphanet J.[frontiersin.org] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] atrophy Muscle biopsy: Normal morphology & mitochondrial studies Neurodegeneration with Optic atrophy, Childhood-onset (NDGOA) Ubiquitin carboxyl-terminal esterase L1 (UCHL1[neuromuscular.wustl.edu]

  • Hypopituitarism

    . • Craniopharyngioma- visual field defects, optic atrophy, papilledema and cranial nerve palsy. • Loss of weight, asthenia, sensitivity to cold, mental torpor and absence[slideshare.net] All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org] Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T: Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused[dx.doi.org]

  • Anophthalmia - Microphthalmia Syndrome

    atrophy AR OPA3 - CRIGLER-NAJJAR GILBERT SYNDROME Jaundice AR UGT1A1 #218800, #606785 CROUZON SYNDROME Shallow orbits, proptosis, strabismus, hypertelorism, optic atrophy[eyewiki.aao.org] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] atrophy, and pigmentary retinopathy.[reviewofophthalmology.com]

  • Lissencephaly

    , macular hypoplasia, optic atrophy and eso or exotropia.[eyewiki.aao.org] So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov] […] nerve hypoplasia and/or atrophy, strabismus, glaucoma. [11] [12] References: Joseph LD, Pushpalatha, Kuruvilla S. " Cytomegalovirus infection with lissencephaly ."[eyewiki.aao.org]

  • Cerebro-Costo-Mandibular Syndrome

    Optic atrophy, corpus callosum agenesis and loss of white matter are also noted.[findzebra.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] One patient had a cleft palate and another had optic nerve atrophy. Two patients had an atrial septal defect, and a third had a ventricular septal defect.[findzebra.com]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648 8 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322 9 subcutaneous nodule 60 33 hallmark[malacards.org] reported mutations have occurred de novo MOLECULAR BASIS: Caused by mutation in the nonselective sodium leak channel gene (NALCN, 611549.0004) Description The large number[findzebra.com] atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648 14 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322 15 vomiting 59 32 occasional (7.5%)[malacards.org]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    atrophy AR OPA3 - CRIGLER-NAJJAR GILBERT SYNDROME Jaundice AR UGT1A1 #218800, #606785 CROUZON SYNDROME Shallow orbits, proptosis, strabismus, hypertelorism, optic atrophy[eyewiki.aao.org] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia[bredagenetics.com]

  • Autosomal Dominant Non-Syndromic Mental Retardation

    atrophy.[dizziness-and-balance.com] Almost all reported cases have occurred de novo.[bredagenetics.com] Examples of of mitochondrial hereditary diseases : Leber optic atrophy Mitochondrial myopathies Pearson syndrome… Written 2002-12 Louis Dallaire, Jean-Loup Huret Centre de[atlasgeneticsoncology.org]

  • Congenital Fibrosis of Extraocular Muscles Type 3A

    atrophy Early-onset ataxia with dementia Early-onset autosomal dominant Alzheimer disease Early-onset cerebellar ataxia with retained tendon reflexes Early-onset epileptic[se-atlas.de] A mutation screen involving 29 unrelated families revealed that 13 had eight TUBB3 pathogenic variants and all occurred de novo (Tischfield et al. 2010).[preventiongenetics.com] 71_Hyphema 36141 238 72_Internuclear Ophthalmoplegia 37886 242 73_Iridocyclitis Acute and Subacute 3640 246 74_Iris Atrophy Essential or Progressive 36451 250 75_Keratitis[books.google.com]

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