Macular dystrophy, patterned, 1

Preferred Label : Macular dystrophy, patterned, 1;

Symbol : MDPT1;

CISMeF acronym : MDPT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Patterned dystrophy of retinal pigment epithelium; Butterfly dystrophy of retinal pigment epithelium; Macular dystrophy, butterfly-shaped pigmentary;

Description : Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy, macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the peripherin 2 gene (PRPH2, 179605.0009);

Prefixed ID : #169150;

Details

Origin ID

169150;

UMLS CUI

C4551999;

Automatic exact mappings (from CISMeF team)
- patterned macular dystrophy [DO Concept]
CISMeF manual mappings
- patterned macular dystrophy 1 [DO Concept]
Currated CISMeF NLP mapping
- Butterfly-shaped pigment dystrophy [ORDO Disease]
- Butterfly-shaped pigment dystrophy [ICD-11 More detail]
- Butterfly-shaped pigmentary macular dystrophy (disorder) [SNOMED CT concept]
- Pattern dystrophy [ORDO Disease]
- Patterned dystrophy of retinal pigment epithelium [MeSH concept]
- patterned dystrophy of retinal pigment epithelium [MeSH Supplementary Concept]
DO Cross reference
- patterned macular dystrophy 1 [DO Concept]
Genes related to phenotype
- Peripherin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choroidal neovascularization [HPO term]
- Dark choroid [HPO term]
- Macular dystrophy [HPO term]
- Metamorphopsia [HPO term]
- Nyctalopia [HPO term]
- Pattern dystrophy of the retina [HPO term]
- Photophobia [HPO term]
- Reticular retinal dystrophy [HPO term]
ORDO concept(s)
- Butterfly-shaped pigment dystrophy [ORDO Disease]
See also inter- (CISMeF)
- Butterfly-shaped pigment dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pattern dystrophy [ORDO Disease]
- Patterned dystrophy of retinal pigment epithelium [MeSH concept]
- patterned dystrophy of retinal pigment epithelium [MeSH Supplementary Concept]
- patterned macular dystrophy 1 [DO Concept]

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