Cataract 9, multiple types

Preferred Label : Cataract 9, multiple types;

Symbol : CTRCT9;

CISMeF acronym : CATC1; CTRCT9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, autosomal dominant; CATC1; Cataract 9, multiple types, with or without microcornea; Cataract, autosomal recessive congenital 1;

Description : Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-A-crystallin gene (CRYAA, 123580.0001);

Prefixed ID : #604219;

Details

Origin ID

604219;

UMLS CUI

C1858679;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset nuclear cataract [ORDO Disease]
- cataract, autosomal recessive congenital 1 [MeSH concept]
- cataract, autosomal recessive congenital 1 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- cataract 9 multiple types [DO Concept]
- cataract, autosomal dominant [MeSH concept]
- cataract, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- cataract 9 multiple types [DO Concept]
Genes related to phenotype
- Crystallin, alpha-a [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Developmental cataract [HPO term]
- Glaucoma [HPO term]
- Iris coloboma [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Nystagmus [HPO term]
- Progressive cataract [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Cataract-microcornea syndrome [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant cataract [Disease (Nov.)]
- cataract 9 multiple types [DO Concept]
- cataract, autosomal dominant [MeSH Supplementary Concept]
- cataract, autosomal dominant [MeSH concept]
- cataract, autosomal recessive congenital 1 [MeSH concept]

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