CTRCT42
MCID: CTR139
MIFTS: 18

Cataract 42 (CTRCT42)

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

Aliases & Classifications for Cataract 42

MalaCards integrated aliases for Cataract 42:

Name: Cataract 42 57 12 75 73
Ctrct42 57 12 75
a Cataract That Has_material_basis_in Heterozygous Mutation in the Cryba2 Gene on Chromosome 2q35. 12
Cataract, Type 42 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cataract 42:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115900
Disease Ontology 12 DOID:0110237
ICD10 33 Q12.0
MeSH 44 D002386
UMLS 73 C4011454

Summaries for Cataract 42

UniProtKB/Swiss-Prot : 75 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 glaucoma and congenital cataract

Description from OMIM: 115900

Symptoms & Phenotypes for Cataract 42

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, congenital
glaucoma (in some patients)
myopia (in some patients)
eccentric pupil (rare)


Clinical features from OMIM:

115900

Human phenotypes related to Cataract 42:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 occasional (7.5%) HP:0000501
2 congenital cataract 32 HP:0000519
3 myopia 32 occasional (7.5%) HP:0000545

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:

41
Eye

Publications for Cataract 42

Variations for Cataract 42

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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