Gyrate atrophy of choroid and retina

Preferred Label : Gyrate atrophy of choroid and retina;

Symbol : GACR;

CISMeF acronym : GACR; HOGA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Okt deficiency; Ornithine-delta-aminotransferase deficiency; Ornithine aminotransferase deficiency; Ornithine keto acid aminotransferase deficiency; Hyperornithinemia with gyrate atrophy of choroid and retina; Oat deficiency; HOGA; Gyrate atrophy;

Description : Gyrate atrophy of the choroid and retina due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by Peltola et al., 2002). See 238970 for another hyperornithinemia syndrome.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ornithine aminotransferase gene (OAT, 258870.0001);

Laboratory abnormalities : Elevated plasma ornithine ( 10-fold); Ornithine-delta-aminotransferase (OAT) deficiency; Plasma ammonia not elevated; Elevated urinary ornithine, lysine, arginine; Decreased plasma lysine, glutamic acid, and glutamine;

Prefixed ID : #258870;

Details

Origin ID

258870;

UMLS CUI

C0018425;

Automatic exact mappings (from CISMeF team)
- ornithine aminotransferase [ORDO Gene]
- ornithine aminotransferase [HGNC gene]
Currated CISMeF NLP mapping
- Gyrate Atrophy [NCIt concept]
- Gyrate atrophy (disorder) [SNOMED CT concept]
- Gyrate atrophy of choroid and retina [ORDO Disease]
- Hyperornithinaemia [ICD-11 More detail]
- Hyperornithinemia (disorder) [SNOMED CT concept]
- Ornithine aminotransferase deficiency [MeSH concept]
- Ornithine oxo-acid aminotransferase deficiency (disorder) [SNOMED CT concept]
- gyrate atrophy [Disease (Nov.)]
- gyrate atrophy [DO Concept]
- gyrate atrophy [MeSH Descriptor]
- gyrate atrophy [MeSH concept]
- gyrate atrophy of the choroid and retina [SNOMED Notion]
- hyperornithinemia, nos [SNOMED Notion]
- ornithine aminotransferase deficiency [Disease (Nov.)]
DO Cross reference
- gyrate atrophy [DO Concept]
Genes related to phenotype
- Ornithine aminotransferase [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Chorioretinal atrophy [HPO term]
- EMG abnormality [HPO term]
- Myopia [HPO term]
- Nyctalopia [HPO term]
- Posterior subcapsular cataract [HPO term]
- Progressive chorioretinal degeneration [HPO term]
- Proximal muscle weakness [HPO term]
- Proximal muscle weakness, mild [HPO term]
ORDO concept(s)
- Gyrate atrophy of choroid and retina [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gyrate Atrophy [NCIt concept]
- Gyrate atrophy (disorder) [SNOMED CT concept]
- Gyrate atrophy of the choroid and retina [MedDRA LLT]
- gyrate atrophy [MeSH Descriptor]
- gyrate atrophy [MeSH concept]
- gyrate atrophy [DO Concept]
- gyrate atrophy [Disease (Nov.)]
- gyrate atrophy of the choroid and retina [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients