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 57 12 75 29 6
Ctrct43 57 12 75
Cataract, Type 43 40

Characteristics:

OMIM:

57
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:

32
cataract 43:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616279
Disease Ontology 12 DOID:0110259
ICD10 33 Q12.0
MeSH 44 D002386
SNOMED-CT via HPO 69 263681008 95723009

Summaries for Cataract 43

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, subcapsular and central


Clinical features from OMIM:

616279

Human phenotypes related to Cataract 43:

32
# Description HPO Frequency HPO Source Accession
1 subcapsular cataract 32 HP:0000523

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 29 UNC45B

Anatomical Context for Cataract 43

MalaCards organs/tissues related to Cataract 43:

41
Eye

Publications for Cataract 43

Variations for Cataract 43

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

75
# 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 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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