Optic atrophy 13 with retinal and foveal abnormalities

Preferred Label : Optic atrophy 13 with retinal and foveal abnormalities;

Symbol : OPA13;

CISMeF acronym : OPA13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Optic atrophy with negative electroretinograms;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the single-stranded DNA-binding protein 1 gene (SSBP1, 600439.0001);

Laboratory abnormalities : Tissue-specific decrease in COX-positive fibers; Tissue-specific mtDNA depletion (in some patients);

Prefixed ID : #165510;

Details

Origin ID

165510;

UMLS CUI

C5435585;

Automatic exact mappings (from CISMeF team)
- SSBP1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- optic atrophy with negative electroretinograms [MeSH concept]
- optic atrophy with negative electroretinograms [MeSH Supplementary Concept]
Genes related to phenotype
- Single-stranded dna-binding protein 1 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Optic atrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- optic atrophy with negative electroretinograms [MeSH Supplementary Concept]
- optic atrophy with negative electroretinograms [MeSH concept]

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