CATARACT 5, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, LAMELLAR
CTRCT5
CATARACT, MARNER TYPE
CAM
CTM
Number of Symptoms 9
OrphanetNr:
OMIM Id: 116800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010693) Pulverulent cataract 6 / 7739
2
(HPO:0100018) Nuclear cataract 14 / 7739
3
(HPO:0010920) Zonular cataract 3 / 7739
4
(HPO:0001134) Anterior polar cataract 8 / 7739
5
(HPO:0007971) Lamellar cataract 6 / 7739
6
(HPO:0001167) Abnormality of finger Occasional [HPO:probinson] 29 / 7739
7
(OMIM) Stellate cataract 1 / 7739
8
(OMIM) Perinuclear cataract 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple ...
Clinical Description OMIM Striking pedigrees segregating cataract were reported by Cridland (1918), Hilbert (1912), Jankiewicz and Freeberg (1956), Keizer (1952), Knapp (1926), and Marner (1949), among others. In the Dutch family reported by Marner (1949), 132 individuals in 8 generations were ...
Molecular genetics OMIM Bu et al. (2002) identified a missense mutation in the HSF4 gene (602438.0002) in affected members of the Danish family with cataract reported by Marner (1949) and studied by Eiberg et al. (1988). They also identified mutations in ...