Optic Atrophy 3, Autosomal Dominant (OPA3)

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OMIM 58 165300 MeSH 45 D015418 MESH via Orphanet 46 C537128 ICD10 via Orphanet 35 H47.2 UMLS via Orphanet 75 C1833809

Orphanet 60 ORPHA67036 MedGen 43 C1833809 SNOMED-CT via HPO 70 103276001 128306009 13164000 15188001 193570009 204138006 205091006 22253000 22631008 23388006 246674000 247053007 25082004 26079004 263681008 274818004 298310004 299130003 302200001 315352000 315353005 343087000 38950008 394616008 43378000 51886007 52824009 55300003 563001 56610005 59770006 65956007 76349003 76976005 77479002 81016008 85049009 85102008 91019004 9236007 95646004 95828007 more UMLS 74 C0574084 C1833809

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67036Disease definitionAutosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. ADOAC is caused by mutations in the OPA3 gene (19q13.32).Visit the Orphanet disease page for more resources.

MalaCards based summary : Optic Atrophy 3, Autosomal Dominant, also known as optic atrophy and cataract, autosomal dominant, is related to autosomal dominant optic atrophy plus syndrome and 3-methylglutaconic aciduria, type iii, and has symptoms including ataxia, abnormality of extrapyramidal motor function and muscle spasticity. An important gene associated with Optic Atrophy 3, Autosomal Dominant is OPA3 (Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3). The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are optic atrophy and nystagmus

Genetics Home Reference : ²⁶ Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.

UniProtKB/Swiss-Prot : ⁷⁶ Optic atrophy 3: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia.

Description from OMIM: 165300

Clinical features from OMIM:

165300

Search NIH Clinical Center for Optic Atrophy 3, Autosomal Dominant

Search GEO for disease gene expression data for Optic Atrophy 3, Autosomal Dominant.