Cataract 7 - CISMeF

Preferred Label : Cataract 7;

Symbol : CTRCT7;

CISMeF acronym : CCA1; CTRCT7;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cataract 7, cerulean type; CCA1; Cataract, congenital, cerulean type, 1;

Description : Cerulean cataract, first described by Vogt (1922), is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years (Armitage et al., 1995). The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.';

Inheritance : Autosomal dominant;

Prefixed ID : %115660;

Details

Origin ID

115660;

UMLS CUI

C0344523;

Automatic exact mappings (from CISMeF team)
- Cerulean cataract [MeSH concept]
- Infantile non-syndromic cataract [ORDO Disease]
- cataract, congenital, cerulean type, 1 [HGNC gene]
- tRNA nucleotidyl transferase 1 [ORDO Gene]
Broader ORDO disease(s)
- Cerulean cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 7 [DO Concept]
- cerulean cataract [MeSH Supplementary Concept]
DO Cross reference
- cataract 7 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Mildly reduced visual acuity [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Cerulean cataract [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset partial cataract [ORDO Disease]
- Infantile non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cerulean cataract [MeSH concept]
- Cerulean cataract [HPO term]
- Cerulean cataract [ORDO Disease]
- Cerulean cataract [MedDRA Preferred Term]
- Congenital blue dot cataract (disorder) [SNOMED CT concept]
- cataract 7 [DO Concept]
- cerulean cataract [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Cerulean cataract [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients