CATARACT 9, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
CTRCT9
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
CATARACT, AUTOSOMAL DOMINANT
CATC1
Number of Symptoms 27
OrphanetNr:
OMIM Id: 604219
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:0000528) Anophthalmia 42 / 7739
2
(HPO:0011478) True anophthalmia 17 / 7739
3
(HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
4
(HPO:0010923) Anterior subcapsular cataract 1 / 7739
5
(HPO:0007819) Presenile cataracts 5 / 7739
6
(HPO:0007971) Lamellar cataract 6 / 7739
7
(HPO:0000482) Microcornea rare [HPO:skoehler] 102 / 7739
8
(HPO:0007787) Posterior subcapsular cataract 20 / 7739
9
(HPO:0007834) Progressive cataract rare [HPO:skoehler] 3 / 7739
10
(HPO:0100018) Nuclear cataract 14 / 7739
11
(HPO:0000501) Glaucoma 180 / 7739
12
(HPO:0000486) Strabismus 576 / 7739
13
(HPO:0100019) Cortical cataract 3 / 7739
14
(HPO:0010700) Total cataract 3 / 7739
15
(HPO:0000612) Iris coloboma rare [HPO:skoehler] 116 / 7739
16
(HPO:0000646) Amblyopia 42 / 7739
17
(HPO:0001115) Posterior polar cataract 8 / 7739
18
(HPO:0000639) Nystagmus 555 / 7739
19
(HPO:0001134) Anterior polar cataract 8 / 7739
20
(HPO:0000518) Cataract 454 / 7739
21
(HPO:0000505) Visual impairment 297 / 7739
22
(OMIM) Cataract, fan-shaped 1 / 7739
23
(OMIM) Cataract, laminar 1 / 7739
24
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
(OMIM) Opacities in embryonal nuclei 1 / 7739
26
(OMIM) Cataract, zonular central nuclear 1 / 7739
27
(OMIM) Cataract, congenital, multiple types 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated ...
Clinical Description OMIM Litt et al. (1998) studied a 4-generation family with autosomal dominant congenital cataracts that had been described as congenital zonular central nuclear opacities. In 5 of the 13 affected family members, the cataracts were also associated with microphthalmia ...
Molecular genetics OMIM In affected members of a family segregating autosomal dominant congenital cataracts mapping to chromosome 21q22.3, Litt et al. (1998) sequenced the coding region of the CRYAA gene and identified a heterozygous missense mutation (R116C; 123580.0001) that segregated with ...