Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

Preferred Label : Retinal arterial macroaneurysm with supravalvular pulmonic stenosis;

Symbol : RAMSVPS;

CISMeF acronym : RAMSVPS;

Type : Phenotype, molecular basis known;

Description : Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction (summary by Abu-Safieh et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the insulin-like growth factor-binding protein-7 gene (IGFBP7, 602867.0001);

Prefixed ID : #614224;

Details

Origin ID

614224;

UMLS CUI

C3280205;

Automatic exact mappings (from CISMeF team)
- Familial retinal arterial macroaneurysm [ORDO Disease]
- IGFBP7 wt Allele [NCIt concept]
- Insulin-Like Growth Factor Binding Protein 7 Measurement [NCIt concept]
Currated CISMeF NLP mapping
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder) [SNOMED CT concept]
Genes related to phenotype
- Insulin-like growth factor-binding protein 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Exudative retinal detachment [HPO term]
- Pulmonic stenosis [HPO term]
- Retinal arterial macroaneurysms [HPO term]
- Retinal detachment [HPO term]
ORDO concept(s)
- Familial retinal arterial macroaneurysm [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder) [SNOMED CT concept]

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