CATARACT 36

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 4
CTRCT36
CATC4
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613887
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
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM To confirm independently the involvement of TDRD7 in pediatric cataract, Lachke et al. (2011) identified a family with autosomal recessive congenital cataract in which homozygosity mapping identified a single block of shared homozygosity between the 4 affected sibs ...