Partial congenital cataract

General Information (adopted from Orphanet):

Synonyms, Signs: CTRCT12
Number of Symptoms 6
OrphanetNr: 98992
OMIM Id: 611597
ICD-10: Q12.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Non-syndromic congenital cataract
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000519) Congenital cataract 10739768 IBIS 73 / 7739
2
(HPO:0007834) Progressive cataract 3 / 7739
3
(HPO:0000545) Myopia 286 / 7739
4
(OMIM) Cataract, adult-onset (punctate cortical) 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Cataract, progressive, juvenile-onset (lamellar, cortical, nuclear embryonic, or Y-sutural) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical.
Clinical Description OMIM Kramer et al. (2000) studied 12 affected and 13 unaffected members of a 4-generation family with autosomal dominant congenital cataract. Affected family members had congenital nuclear and sutural cataracts of variable severity, with some family members undergoing surgery ...
Molecular genetics OMIM In affected members of a 5-generation family with autosomal dominant juvenile-onset cataract, Conley et al. (2000) identified a missense mutation in the BFSP2 gene (R287W; 603212.0001). The mutation was not found in 96 unrelated control individuals; however, 1 ...