CATARACT 40

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, CONGENITAL, X-LINKED
CTRCT40
CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES
CATARACT 40 WITH OR WITHOUT MICROCORNEA
CXN
CCT
Number of Symptoms 6
OrphanetNr:
OMIM Id: 302200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001141) Severe visual impairment 11 / 7739
2
(HPO:0008024) Congenital nuclear cataract 5 / 7739
3
(HPO:0010695) Sutural cataract 3 / 7739
4
(OMIM) Severe visual impairment in males 1 / 7739
5
(HPO:0001417) X-linked inheritance 173 / 7739
6
(OMIM) Congenital nuclear cataract in males 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Walsh and Wegman (1937) reported possible X-linked cataract in a triracial group of southern Maryland. (The authors stated that this group was known locally as 'Weesorts.') The affected males had cataracts, described as lamellar, zonular, or perinuclear, with ...
Molecular genetics OMIM In a 4-generation pedigree with X-linked congenital cataract mapping to Xp22.13, originally described by Francis et al. (2002), Brooks et al. (2004) analyzed the NHS gene (300457) but found no mutations. However, Coccia et al. (2009) restudied this ...