CATARACT 21, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
CTRCT21
CATARACT, CONGENITAL, CERULEAN TYPE, 4
CATARACT, PULVERULENT, JUVENILE-ONSET
CCA4
Number of Symptoms 8
OrphanetNr:
OMIM Id: 610202
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:0007780) Cortical pulverulent cataract 2 / 7739
2
 (HPO:0000612) Iris coloboma 116 / 7739
3
 (HPO:0000541) Retinal detachment rare [HPO:skoehler] 87 / 7739
4
 (HPO:0000482) Microcornea 102 / 7739
5
 (HPO:0007976) Cerulean cataract 3 / 7739
6
 (HPO:0001104) Macular hypoplasia rare [HPO:skoehler] 9 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (OMIM) Cataracts, cortical pulverulent, juvenile-onset 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as juvenile-onset cortical pulverulent, lamellar, nuclear pulverulent, posterior subcapsular, and congenital cerulean.

The preferred title of this entry ...
Clinical Description OMIM Jamieson et al. (2002) reported a family in which autosomal dominant juvenile-onset cataract segregated in 3 generations. The cataracts were cortical pulverulent opacities in a lamellar distribution. Nuclear pulverulent opacities were present in 2 cases. There was later ...
Molecular genetics OMIM Through mutation screening of a panel of patients with hereditary congenital cataract, Jamieson et al. (2002) identified a missense mutation in the MAF gene (177075.0001) in affected members of a 3-generation family with autosomal dominant juvenile-onset cataract, some ...