Preferred Label : Cataract 5, multiple types;
Symbol : CTRCT5;
CISMeF acronym : CTRCT5; CAM; CTM;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : CAM; Cataract, marner type; CTM; Cataract, lamellar;
Description : Congenital cataracts cause 10 to 30% of all blindness in children, with one-third
of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations
in the HSF4 gene have been found to cause multiple types of cataract, which have been
described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and
Marner-type. The preferred title for this entry was formerly 'Lamellar Cataract,'
with 'Cataract, Marner Type; CAM; CTM' an included title.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the heat-shock transcription factor 4 (HSF4, 602438.0001);
Prefixed ID : #116800;
Origin ID : 116800;
UMLS CUI : C3888417;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)