Cataract 5, multiple types

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;

Détails

Origin ID

116800;

UMLS CUI

C3888417;

Automatic exact mappings (from CISMeF team)
- CALM1 wt Allele [NCIt concept]
- Calmodulin [NCIt concept]
- Cell Adhesion Molecule [NCIt concept]
- Cham language (qualifier value) [SNOMED CT concept]
- Complementary and Alternative Medicine [NCIt concept]
- Computer-Aided manufacturing [MeSH concept]
- Cyclophosphamide/Doxorubicin/Methotrexate [NCIt concept]
- Early-onset non-syndromic cataract [ORDO Disease]
- KRIT1 ankyrin repeat containing [ORDO Gene]
- KRIT1 wt Allele [NCIt concept]
- Krev Interaction Trapped Protein 1 [NCIt concept]
- Racial Melanosis [NCIt concept]
- complementary and integrative medicine [MedlinePlus Topic]
- complementary therapies [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital lamellar cataract (disorder) [SNOMED CT concept]
- Zonular cataract [ICD-11 More detail]
- cataract 5 multiple types [DO Concept]
DO Cross reference
- cataract 5 multiple types [DO Concept]
False automatic mappings
- Confusion Assessment Method (CAM) [LOINC component]
- Crassulacean Acid Metabolism [MeSH Descriptor]
Genes related to phenotype
- Heat-shock transcription factor 4 [OMIM gene]
HPO term(s)
- Anterior polar cataract [HPO term]
- Autosomal dominant inheritance [HPO term]
- Lamellar cataract [HPO term]
- Nuclear cataract [HPO term]
- Pulverulent cataract [HPO term]
- Zonular cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
See also inter- (CISMeF)
- Cataract, zonular [MeSH concept]
- Congenital zonular cataract (disorder) [SNOMED CT concept]
- Early-onset zonular cataract [ORDO Disease]
- Lamellar cataract [HPO term]
- Zonular cataract [HPO term]
- cataract, zonular [MeSH Supplementary Concept]
- zonular cataract [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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