CTRCT42
MCID: CTR139
MIFTS: 18

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 58 12 76 74
Ctrct42 58 12 76
a Cataract That Has_material_basis_in Heterozygous Mutation in the Cryba2 Gene on Chromosome 2q35. 12
Cataract, Type 42 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cataract 42:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110237
OMIM 58 115900
MeSH 45 D002386
ICD10 34 Q12.0
UMLS 74 C4011454

Summaries for Cataract 42

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 115900

Symptoms & Phenotypes for Cataract 42

Human phenotypes related to Cataract 42:

33
# Description HPO Frequency HPO Source Accession
1 myopia 33 occasional (7.5%) HP:0000545
2 glaucoma 33 occasional (7.5%) HP:0000501
3 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Cataract 42

MalaCards organs/tissues related to Cataract 42:

42
Eye

Publications for Cataract 42

Variations for Cataract 42

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

76
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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