Stargardt disease 4

Preferred Label : Stargardt disease 4;

Symbol : STGD4;

CISMeF acronym : STGD4;

Type : Phenotype, molecular basis known;

Description : Stargardt disease is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see 248200), but;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the prominin 1 gene (PROM1, 604365.0003);

Prefixed ID : #603786;

Details

Origin ID

603786;

UMLS CUI

C1863534;

Broader ORDO disease(s)
- Stargardt disease [ORDO Disease]
Currated CISMeF NLP mapping
- Stargardt disease 4 [MeSH concept]
- stargardt disease 4 [MeSH Supplementary Concept]
DO Cross reference
- Stargardt disease [DO Concept]
Genes related to phenotype
- Prominin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Macular degeneration [HPO term]
- Reduced visual acuity [HPO term]
- Retinal flecks [HPO term]
ORDO concept(s)
- Stargardt disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stargardt disease 4 [MeSH concept]
- stargardt disease 4 [MeSH Supplementary Concept]

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