Macular degeneration, age-related, 1

Preferred Label : Macular degeneration, age-related, 1;

Symbol : ARMD1;

CISMeF acronym : ARMD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Maculopathy, age-related, 1;

Description : Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the hemicentin gene (HMCN1, 608548.0001);

Prefixed ID : #603075;

Details

Origin ID

603075;

UMLS CUI

C1864205;

Automatic exact mappings (from CISMeF team)
- Hemicentin 1 [ORDO Gene]
- symbol withdrawn ARMD1 [HGNC gene]
Broader ORDO disease(s)
- Age-related macular degeneration [ORDO Disease]
Currated CISMeF NLP mapping
- age related macular degeneration 1 [DO Concept]
- macular degeneration, Age-Related, 1 [MeSH concept]
- macular degeneration, Age-Related, 1 [MeSH Supplementary Concept]
DO Cross reference
- age related macular degeneration 1 [DO Concept]
Genes related to phenotype
- Apolipoprotein e [OMIM gene]
- Complement factor h-related 1 [OMIM gene]
- Complement factor h-related 3 [OMIM gene]
- Hemicentin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choroidal neovascularization [HPO term]
- Foveal hypopigmentation [HPO term]
- Geographic atrophy [HPO term]
- Late onset [HPO term]
- Macular degeneration [HPO term]
- Macular drusen [HPO term]
- Macular hemorrhage [HPO term]
- Progressive visual loss [HPO term]
ORDO concept(s)
- Age-related macular degeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- age related macular degeneration 1 [DO Concept]
- macular degeneration, Age-Related, 1 [MeSH Supplementary Concept]
- macular degeneration, Age-Related, 1 [MeSH concept]

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