CATARACT 11, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, POSTERIOR POLAR, 4
CTRCT11
CPP4 CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES, INCLUDED
CTPP4
Number of Symptoms 4
OrphanetNr:
OMIM Id: 610623
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000518) Cataract 454 / 7739
2
(OMIM) Anterior segment mesenchymal dysgenesis (in some patients) 1 / 7739
3
(OMIM) Cataract, posterior polar, congenital progressive 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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; ...

Clinical Description OMIM Berry et al. (2004) examined affected members of a 4-generation English family with autosomal dominant posterior polar cataract. The opacity, which was bilateral in all cases, consisted of a single well-defined plaque that was confined to the posterior ...
Molecular genetics OMIM Semina et al. (1998) screened a collection of 80 DNA samples from individuals with various eye anomalies for mutations in the PITX3 gene. In a mother and son with congenital total cataract, they identified a heterozygous missense mutation ...