CATARACT 1, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, ZONULAR PULVERULENT, 1
CATARACT, DUFFY-LINKED
CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
CTRCT1
CZP1
CAE1
CZP
Number of Symptoms 3
OrphanetNr:
OMIM Id: 116200
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:0100018) Nuclear cataract 14 / 7739
2
(HPO:0000519) Congenital cataract 73 / 7739
3
(OMIM) Cataract, zonular pulverulent 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated ...
Clinical Description OMIM Renwick and Lawler (1963) studied the 'Ev.' kindred with zonular pulverulent cataract that had been described earlier by Nettleship (1909). Renwick and Lawler (1963) referred to the disorder as congenital zonular cataract; Renwick (1970) described it as total ...
Molecular genetics OMIM In 2 distantly related branches of an 8-generation English kindred known as 'Ev.' with zonular pulverulent cataract, in which Renwick and Lawler (1963) demonstrated linkage to the Duffy blood group, Shiels et al. (1997) and Shiels et al. ...