Cataract 11, multiple types

Preferred Label : Cataract 11, multiple types;

Symbol : CTRCT11;

CISMeF acronym : CPP4; CTPP4; CTRCT11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, posterior polar, 4; CTPP4; CPP4;

Included titles and symbols : Cataract 11 with microphthalmia and neurodevelopmental abnormalities;

Description : Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar. The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.';

Inheritance : Autosomal dominant; Autosomal recessive (in 2 patients);

Molecular basis : Caused by mutation in the paired-like homeodomain transcription factor-3 gene (PITX3, 602669.0001);

Prefixed ID : #610623;

Details

Origin ID

610623;

UMLS CUI

C1864567;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset posterior polar cataract [ORDO Disease]
Broader ORDO disease(s)
- Early-onset posterior polar cataract [ORDO Disease]
Currated CISMeF NLP mapping
- Cataract, posterior polar, 4 [MeSH concept]
- cataract 11 multiple types [DO Concept]
- cataract, posterior polar, 4 [MeSH Supplementary Concept]
DO Cross reference
- cataract 11 multiple types [DO Concept]
Genes related to phenotype
- Paired-like homeodomain transcription factor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cataract [HPO term]
- Chorea [HPO term]
- Hypertonia [HPO term]
- Intellectual disability [HPO term]
- Microphthalmia [HPO term]
- Reduced tendon reflexes [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract, posterior polar, 4 [MeSH concept]
- cataract 11 multiple types [DO Concept]
- cataract, posterior polar, 4 [MeSH Supplementary Concept]

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