CATARACT 18

General Information (adopted from Orphanet):

Synonyms, Signs: CTRCT18
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
CATC2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 610019
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0000518) Cataract 454 / 7739
2
(OMIM) Cataracts, bilateral nuclear, present at birth or developing in infancy 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear.

The preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.'
Clinical Description OMIM Chen et al. (2011) studied 12 consanguineous Pakistani families segregating autosomal recessive congenital cataract. All affected individuals available for examination had bilateral nuclear cataracts that were either present at birth or developed in infancy. No other ocular or ...
Molecular genetics OMIM In affected members of a consanguineous Pakistani family segregating autosomal recessive congenital cataract (arCC) that mapped to chromosome 3p22-p21, Chen et al. (2011) analyzed 35 candidate genes and identified homozygosity for a nonsense mutation in the FYCO1 gene ...