Preferred Label : Leber congenital amaurosis 11;
Symbol : LCA11;
CISMeF acronym : LCA11;
Type : Phenotype, molecular basis known;
Description : Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies
characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients
usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram
(ERG) responses are usually nonrecordable. Other clinical findings may include high
hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable
appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description
and a discussion of genetic heterogeneity of LCA, see 204000.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the IMP dehydrogenase-1 gene (IMPDH1, 146690.0004);
Prefixed ID : #613837;
Origin ID : 613837;
UMLS CUI : C1840284;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
