Leber congenital amaurosis 11

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;

Details

Origin ID

613837;

UMLS CUI

C1840284;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
- inosine monophosphate dehydrogenase 1 [ORDO Gene]
- inosine monophosphate dehydrogenase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 11 [DO Concept]
- leber congenital amaurosis 11 [MeSH concept]
- leber congenital amaurosis 11 [MeSH Supplementary Concept]
DO Cross reference
- Leber congenital amaurosis 11 [DO Concept]
Genes related to phenotype
- Imp dehydrogenase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Nystagmus [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 11 [DO Concept]
- leber congenital amaurosis 11 [MeSH Supplementary Concept]
- leber congenital amaurosis 11 [MeSH concept]

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