CATARACT 6, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CTRCT6
CATARACT, POSTERIOR POLAR, 1
CATARACT, AGE-RELATED CORTICAL, 2
CTPP1
ARCC2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 116600
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:0001115) Posterior polar cataract 12/12 [HPO] 19005574 IBIS 8 / 7739
2
(HPO:0010700) Total cataract 3 / 7739
3
(HPO:0001139) Choroideremia 7 / 7739
4
(HPO:0000519) Congenital cataract 73 / 7739
5
(HPO:0000545) Myopia 286 / 7739
6
(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 EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical.

The preferred title/symbol of this entry was formerly 'Cataract, ...

Clinical Description OMIM In Nettleship's family (Nettleship, 1909, 1912), congenital posterior polar opacities were present and scattered cortical opacities appeared in childhood and progressed to total cataract. Tulloh (1955) described 15 affected in 5 generations. Valk and Binkhorst (1956) described associated ...
Molecular genetics OMIM In a 4-generation Caucasian family with autosomal dominant posterior polar cataracts mapping to chromosome 1p36, Shiels et al. (2008) identified a heterozygous missense mutation in the EPHA2 gene (G948W; 176946.0001) that was not found in 192 controls. Candidate-gene ...