Optic atrophy 1

Preferred Label : Optic atrophy 1;

Symbol : OPA1;

CISMeF acronym : OPA1; OAK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Optic atrophy, juvenile; Optic atrophy, kjer type; OAK; Kjer-type optic atrophy;

Description : Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998). Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see 125250. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; 535000), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. - Genetic Heterogeneity of Optic Atrophy Another locus for optic atrophy, OPA2 (311050), has been mapped to chromosome Xp11.4-p11.21. Optic atrophy-3 (OPA3; 165300) is caused by mutation in the OPA3 gene (606580) on chromosome 19q13.2-q13.3. Optic atrophy-4 (OPA4; 605293) has been mapped to chromosome 18q12.2-q12.3, Optic atrophy-5 (OPA5; 610708) to chromosome 22q12.1-q13.1, and optic atrophy-6 (OPA6; 258500) to chromosome 8q. Optic atrophy-7 (OPA7; 612989) is caused by mutation in the TMEM126A gene (612988) on chromosome 11q14.1-q21.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the OPA1 mitochondrial dynamin-like GTPase gene (OPA1, 605290.0001);

Prefixed ID : #165500;

Details

Origin ID

165500;

UMLS CUI

C0338508;

Automatic exact mappings (from CISMeF team)
- Dynamin-Like 120 kDa Protein, Mitochondrial [NCIt concept]
- Genus Quercus (organism) [SNOMED CT concept]
- MED12 wt Allele [NCIt concept]
- OPA1 Gene [NCIt concept]
- mediator complex subunit 12 [ORDO Gene]
- mediator complex subunit 12 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal Dominant Optic Atrophy [NCIt concept]
- Autosomal dominant optic atrophy [ORDO Disease]
- Dominant hereditary optic atrophy (disorder) [SNOMED CT concept]
- Optic Atrophy 1 [NCIt concept]
- autosomal dominant optic atrophy [Disease (Nov.)]
- dominant hereditary optic atrophy [SNOMED Notion]
- optic atrophy 1 [DO Concept]
- optic atrophy, autosomal dominant [MeSH Descriptor]
- optic atrophy, autosomal dominant [MeSH concept]
DO Cross reference
- optic atrophy 1 [DO Concept]
Genes related to phenotype
- Opa1 mitochondrial dynamin-like gtpase [OMIM gene]
HPO term(s)
- Abnormal amplitude of pattern reversal visual evoked potentials [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Central scotoma [HPO term]
- Centrocecal scotoma [HPO term]
- Horizontal nystagmus [HPO term]
- Incomplete penetrance [HPO term]
- Insidious onset [HPO term]
- Optic atrophy [HPO term]
- Pallor [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Proximal muscle weakness [HPO term]
- Red-green dyschromatopsia [HPO term]
- Reduced visual acuity [HPO term]
- Strabismus [HPO term]
- Tritanomaly [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal dominant optic atrophy, classic form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy [ORDO Disease]
- Autosomal dominant optic atrophy classic form (disorder) [SNOMED CT concept]
- Autosomal dominant optic atrophy, classic form [ORDO Disease]
- Childhood-onset autosomal dominant optic atrophy [ICD-11 More detail]
- Optic Atrophy 1 [NCIt concept]
- dominant hereditary optic atrophy [SNOMED Notion]
- optic atrophy, autosomal dominant [MeSH Descriptor]
- optic atrophy, autosomal dominant [MeSH concept]
Validated automatic mappings to BTNT
- Autosomal dominant optic atrophy classic form (disorder) [SNOMED CT concept]
- Autosomal dominant optic atrophy, classic form [ORDO Disease]
- Childhood-onset autosomal dominant optic atrophy [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients