Cataract 4, multiple types

Preferred Label : Cataract 4, multiple types;

Symbol : CTRCT4;

CISMeF acronym : CACA; CCA3; CTRCT4; PCC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PCC; Cataract, nonnuclear polymorphic congenital; Cataract, punctate, progressive juvenile-onset; CACA; Cataract, crystalline aculeiform; CCA3; Cataract 4, multiple types, with or without microcornea; Cataract, congenital, cerulean type, 3;

Description : Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea. Because multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the crystallin gamma-D gene (123690.0001);

Prefixed ID : #115700;

Details

Origin ID

115700;

UMLS CUI

C3540850;

Automatic exact mappings (from CISMeF team)
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Adrenal Gland Pheochromocytoma [NCIt concept]
- Calcific chronic pancreatitis (disorder) [SNOMED CT concept]
- Chronic calcifying pancreatitis [HPO term]
- Coralliform cataract [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset nuclear cataract [ORDO Disease]
- Infantile non-syndromic cataract [ORDO Disease]
- PCC Regimen [NCIt concept]
- cataract, congenital, cerulean type, 3 [MeSH concept]
- cataract, congenital, cerulean type, 3 [MeSH Supplementary Concept]
- cataract, punctate, progressive Juvenile-Onset [MeSH concept]
- cataract, punctate, progressive Juvenile-Onset [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- cataract 4 multiple types [DO Concept]
- cataract, crystalline aculeiform [MeSH concept]
- cataract, crystalline aculeiform [MeSH Supplementary Concept]
DO Cross reference
- cataract 4 multiple types [DO Concept]
False automatic mappings
- 1-piperidinocyclohexanecarbonitrile (substance) [SNOMED CT concept]
- N(4)-chloroacetylcytosine arabinoside [MeSH concept]
- N(4)-chloroacetylcytosine arabinoside [MeSH Supplementary Concept]
Genes related to phenotype
- Crystallin, gamma-D [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
ORDO concept(s)
- Cataract-microcornea syndrome [ORDO Disease]
- Coppock-like cataract [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
- Infantile non-syndromic cataract [ORDO Disease]
See also inter- (CISMeF)
- Aculeiform cataract [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 4 multiple types [DO Concept]
- cataract, punctate, progressive Juvenile-Onset [MeSH concept]

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