Optic Atrophy 3, Autosomal Dominant (OPA3)

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OMIM 57 165300 Orphanet 59 ORPHA67036 MESH via Orphanet 45 C537128 UMLS via Orphanet 74 C1833809 ICD10 via Orphanet 34 H47.2

MedGen 42 C1833809 MeSH 44 D015418 SNOMED-CT via HPO 69 263681008 128306009 193570009 247053007 51886007 85049009 38950008 65956007 563001 246674000 77479002 76976005 88425004 299130003 85102008 95646004 26079004 205091006 43378000 76349003 56610005 22631008 394616008 25082004 298310004 55300003 91019004 274818004 13164000 315353005 204138006 52824009 59770006 9236007 315352000 22253000 more UMLS 73 C1833809 C0574084

NIH Rare Diseases : ⁵³ 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 (OPA3, Outer Mitochondrial Membrane Lipid Metabolism Regulator). Affiliated tissues include eye, brain and retina, and related phenotypes are nystagmus and ataxia

Genetics Home Reference : ²⁵ Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision loss that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).

UniProtKB/Swiss-Prot : ⁷⁵ 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 Clinical Trials , NIH Clinical Center for Optic Atrophy 3, Autosomal Dominant

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