CTRCT42
MCID: CTR139
MIFTS: 20

Cataract 42 (CTRCT42)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 42

MalaCards integrated aliases for Cataract 42:

Name: Cataract 42 56 12 73 29 71
Ctrct42 56 12 73
a Cataract That Has_material_basis_in Heterozygous Mutation in the Cryba2 Gene on Chromosome 2q35. 12
Cataract, Type 42 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
one large 4-generation uruguayan family reported (last curated august 2014)


HPO:

31
cataract 42:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110237
OMIM 56 115900
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
UMLS 71 C4011454

Summaries for Cataract 42

UniProtKB/Swiss-Prot : 73 Cataract 42: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

MalaCards based summary : Cataract 42, is also known as ctrct42. An important gene associated with Cataract 42 is CRYBA2 (Crystallin Beta A2). Affiliated tissues include eye, and related phenotypes are myopia and glaucoma

More information from OMIM: 115900 PS116200

Symptoms & Phenotypes for Cataract 42

Human phenotypes related to Cataract 42:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 occasional (7.5%) HP:0000545
2 glaucoma 31 occasional (7.5%) HP:0000501
3 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract, congenital
glaucoma (in some patients)
myopia (in some patients)
eccentric pupil (rare)

Clinical features from OMIM:

115900

Drugs & Therapeutics for Cataract 42

Search Clinical Trials , NIH Clinical Center for Cataract 42

Genetic Tests for Cataract 42

Genetic tests related to Cataract 42:

# Genetic test Affiliating Genes
1 Cataract 42 29

Anatomical Context for Cataract 42

MalaCards organs/tissues related to Cataract 42:

40
Eye

Publications for Cataract 42

Articles related to Cataract 42:

# Title Authors PMID Year
1
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 56
23508780 2013
2
Long-term evaluation of orbital rhabdomyosarcoma in children. 61
24923774 2015
3
Causes of blindness and visual impairment in Pakistan. The Pakistan national blindness and visual impairment survey. 61
17229806 2007
4
Etiology and clinical profile of pediatric cataract in a tertiary care center of Eastern Nepal. 61
18274562 2007
5
Eye diseases and blindness in Adjumani refugee settlement camps, Uganda. 61
12862101 2000

Variations for Cataract 42

UniProtKB/Swiss-Prot genetic disease variations for Cataract 42:

73
# Symbol AA change Variation ID SNP ID
1 CRYBA2 p.Val50Met VAR_070029

Expression for Cataract 42

Search GEO for disease gene expression data for Cataract 42.

Pathways for Cataract 42

GO Terms for Cataract 42

Sources for Cataract 42

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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