CATARACT 16, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, CONGENITAL LAMELLAR
CTRCT16 CATARACT, POSTERIOR POLAR, 2
CTPP2
Number of Symptoms 12
OrphanetNr:
OMIM Id: 613763
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001135) Chorioretinal dystrophy 18 / 7739
2
(HPO:0000519) Congenital cataract rare [HPO:skoehler] 73 / 7739
3
(HPO:0000556) Retinal dystrophy rare [HPO:skoehler] 65 / 7739
4
(HPO:0100018) Nuclear cataract 14 / 7739
5
(HPO:0007731) Chorioretinal dysplasia 16 / 7739
6
(HPO:0001115) Posterior polar cataract 8 / 7739
7
(HPO:0007973) Retinal dysplasia 27 / 7739
8
(HPO:0007971) Lamellar cataract 6 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Cataract, juvenile-onset (in some patients) 1 / 7739
12
(OMIM) Cataract, complete 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described.

The ...

Clinical Description OMIM Berry et al. (2001) reported a 4-generation family of English descent with autosomal dominant posterior polar cataract. The opacity was bilateral in all cases and consisted of a single well-defined plaque confined to the posterior pole of the ...
Molecular genetics OMIM In a 4-generation family of English descent with autosomal dominant congenital posterior polar cataracts, Berry et al. (2001) identified heterozygosity for a deletion mutation in the CRYAB gene (123590.0002). Berry et al. (2001) suggested that the cataract in ...