Preferred Label : Leber congenital amaurosis 4;
Symbol : LCA4;
CISMeF acronym : LCA4;
Type : Phenotype, molecular basis known;
Included titles and symbols : Retinitis pigmentosa, juvenile, aipl1-related; Cone-rod dystrophy, aipl1-related;
Description : Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group
of disorders affecting rod and cone photoreceptors simultaneously. The most severe
cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms
are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Various intermediate
phenotypes between LCA and retinitis pigmentosa are known and are sometimes described
as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' (Booij
et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity
of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000;
for cone-rod dystrophy, see 120970.;
Inheritance : Autosomal recessive; Autosomal dominant;
Molecular basis : Caused by mutation in the arylhydrocarbon-interacting receptor protein-like 1 gene
(AIPL1, 604392.0001);
Prefixed ID : #604393;
Origin ID : 604393;
UMLS CUI : C1858386;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
