CTRCT43
MCID: CTR144
MIFTS: 18

Cataract 43 (CTRCT43)

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

Aliases & Classifications for Cataract 43

MalaCards integrated aliases for Cataract 43:

Name: Cataract 43 58 12 76 30 6
Ctrct43 58 12 76
Cataract, Type 43 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
age of onset between 6 and 45 years of age
one 3-generation danish family reported (last curated march 2015)
limited clinical information due to surgical removal of lens in affected individuals


HPO:

33
cataract 43:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110259
OMIM 58 616279
MeSH 45 D002386
ICD10 34 Q12.0
SNOMED-CT via HPO 70 263681008 95723009

Summaries for Cataract 43

UniProtKB/Swiss-Prot : 76 Cataract 43: 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 43, is also known as ctrct43. An important gene associated with Cataract 43 is UNC45B (Unc-45 Myosin Chaperone B). Affiliated tissues include eye, and related phenotype is subcapsular cataract.

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the UNC45B gene on chromosome 17q12.

Description from OMIM: 616279

Symptoms & Phenotypes for Cataract 43

Human phenotypes related to Cataract 43:

33
# Description HPO Frequency HPO Source Accession
1 subcapsular cataract 33 HP:0000523

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract, subcapsular and central

Clinical features from OMIM:

616279

Drugs & Therapeutics for Cataract 43

Search Clinical Trials , NIH Clinical Center for Cataract 43

Genetic Tests for Cataract 43

Genetic tests related to Cataract 43:

# Genetic test Affiliating Genes
1 Cataract 43 30 UNC45B

Anatomical Context for Cataract 43

MalaCards organs/tissues related to Cataract 43:

42
Eye

Publications for Cataract 43

Variations for Cataract 43

UniProtKB/Swiss-Prot genetic disease variations for Cataract 43:

76
# Symbol AA change Variation ID SNP ID
1 UNC45B p.Arg805Trp VAR_073375 rs370424081

ClinVar genetic disease variations for Cataract 43:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UNC45B NM_173167.3(UNC45B): c.2413C> T (p.Arg805Trp) single nucleotide variant Pathogenic rs370424081 GRCh37 Chromosome 17, 33510479: 33510479
2 UNC45B NM_173167.3(UNC45B): c.2413C> T (p.Arg805Trp) single nucleotide variant Pathogenic rs370424081 GRCh38 Chromosome 17, 35183460: 35183460

Expression for Cataract 43

Search GEO for disease gene expression data for Cataract 43.

Pathways for Cataract 43

GO Terms for Cataract 43

Sources for Cataract 43

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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