Oguchi disease 1

Preferred Label : Oguchi disease 1;

CISMeF acronym : CSNBO1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CSNBO1; Night blindness, congenital stationary, oguchi type 1;

Description : Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995). - Genetic Heterogeneity of Oguchi Disease Oguchi disease-2 (CSNBO2) is caused by mutation in the rhodopsin kinase gene (GRK1; 180381) on chromosome 13q34.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the S-antigen gene (SAG, 181031.0001);

Prefixed ID : #258100;

Details

Origin ID

258100;

UMLS CUI

C4551824;

Automatic exact mappings (from CISMeF team)
- Oguchi disease [ICD-11 More detail]
- Oguchi disease [ORDO Disease]
- Oguchi disease [MeSH concept]
- Oguchi's disease (disorder) [SNOMED CT concept]
- congenital night blindness [SNOMED Notion]
- oguchi disease [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Oguchi disease-1 [DO Concept]
DO Cross reference
- Oguchi disease-1 [DO Concept]
Genes related to phenotype
- S-antigen [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital night blindness [HPO term]
- Congenital stationary night blindness [HPO term]
- Hemeralopia [HPO term]
ORDO concept(s)
- Oguchi disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital night blindness [MedDRA Preferred Term]
- Congenital night blindness [ICD-9 code]
- Oguchi disease [ORDO Disease]
- Oguchi disease [MeSH concept]
- Oguchi disease [Disease (Nov.)]
- Oguchi disease-1 [DO Concept]
- Oguchi's disease (disorder) [SNOMED CT concept]
- congenital night blindness [SNOMED Notion]
- congenital stationary night blindness [DO Concept]
- hereditary night blindness [DO Concept]
- oguchi disease [MeSH Supplementary Concept]

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