Choroidal dystrophy, central areolar, 1

Preferred Label : Choroidal dystrophy, central areolar, 1;

Symbol : CACD1;

CISMeF acronym : CACD; CACD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Choroidal sclerosis; Choroidal dystrophy, central areolar; CACD;

Description : A locus for central areolar choroidal dystrophy has been mapped to chromosome 17p13. A form of central areolar choroidal dystrophy (CACD2; 613105) can be caused by mutation in the PRPH2 gene (179605) on chromosome 6p21.2-p12.3. See also CACD3 (613144) for a family in which linkage to the PRPH2 gene and chromosome 17p13 has been excluded. Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by Boon et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanylate cyclase 2D, membrane, retina-specific gene (GUCY2D, 600179.0011);

Prefixed ID : #215500;

Details

Origin ID

215500;

UMLS CUI

C4551884;

Automatic exact mappings (from CISMeF team)
- Choroidal degeneration [ICD-11 Category]
- Choroidal sclerosis [PASCAL descriptor]
- Choroidal sclerosis [MedDRA Preferred Term]
- Choroidal sclerosis (finding) [SNOMED CT concept]
- choroidal sclerosis [DO Concept]
- obsolete Choroidal sclerosis [HPO term]
- partial central choroid dystrophy [DO Concept]
DO Cross reference
- choroidal sclerosis [DO Concept]
Genes related to phenotype
- Guanylate cyclase 2d, retinal [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choriocapillaris atrophy [HPO term]
- Chorioretinal atrophy [HPO term]
ORDO concept(s)
- Central areolar choroidal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Central areolar choroidal dystrophy [ORDO Disease]
- Central areolar choroidal sclerosis (disorder) [SNOMED CT concept]
- Choroidal dystrophy central areolar [MeSH concept]
Validated automatic mappings to NTBT
- Central areolar choroidal dystrophy [ICD-11 More detail]
- Central areolar choroidal dystrophy [ORDO Disease]
- Central areolar choroidal sclerosis (disorder) [SNOMED CT concept]
- Choroidal dystrophy central areolar [MeSH concept]
- Choroidal sclerosis [MeSH concept]
- Choroidal sclerosis [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients