CATARACT 2, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT 2, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
CTRCT2
CATARACT, COPPOCK-LIKE
CCL
Number of Symptoms 12
OrphanetNr:
OMIM Id: 604307
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:0008024) Congenital nuclear cataract 5 / 7739
2
(HPO:0000613) Photophobia rare [HPO:skoehler] 158 / 7739
3
(HPO:0000646) Amblyopia 42 / 7739
4
(HPO:0000505) Visual impairment 297 / 7739
5
(HPO:0100018) Nuclear cataract 14 / 7739
6
(HPO:0000482) Microcornea rare [HPO:skoehler] 102 / 7739
7
(HPO:0000639) Nystagmus 555 / 7739
8
(OMIM) Cataract, zonular pulverulent 3 / 7739
9
(OMIM) Cataract, congenital, multiple types 2 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Cataract, Coppock-like 2 / 7739
12
(OMIM) Opacities in embryonic, fetal, and infantile nuclei 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea.

Before it was ...

Clinical Description OMIM Nettleship and Ogilvie (1906) described 18 cases of embryonic nuclear cataract in 4 generations of a family named Coppock.

Harman (1910) described a 4-generation family (family 'F--n') segregating autosomal dominant congenital cataract, described as 'discoid and ...

Molecular genetics OMIM Heon et al. (1999) identified a heterozygous mutation in the CRYGC gene (T5P; 123680.0001) in the family with Coppock-like cataract originally reported by Harman (1910) and restudied by Lubsen et al. (1987).

In affected members of ...