CTRCT43
MCID: CTR144
MIFTS: 20

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 72 29 6
Ctrct43 57 12 72
Cataract, Type 43 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
cataract 43:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110259
OMIM® 57 616279
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 263681008 95723009

Summaries for Cataract 43

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 616279 PS116200

Symptoms & Phenotypes for Cataract 43

Human phenotypes related to Cataract 43:

31
# Description HPO Frequency HPO Source Accession
1 subcapsular cataract 31 HP:0000523

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
cataract, subcapsular and central

Clinical features from OMIM®:

616279 (Updated 05-Apr-2021)

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:

40
Eye

Publications for Cataract 43

Articles related to Cataract 43:

# Title Authors PMID Year
1
The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. 6 57
24549050 2014
2
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. 57
19182255 2009
3
Rapid assessment of avoidable blindness in two northern provinces of Burundi without eye services. 61
22775276 2012
4
Causes of blindness and visual impairment in Nigeria: the Nigeria national blindness and visual impairment survey. 61
19387071 2009
5
Visual outcome in cataract surgery complicated by vitreous loss in a district general hospital. 61
18401555 2009
6
Prospective epidemiological cohort study of reduced risk for incident cataract with vigorous physical activity and cardiorespiratory fitness during a 7-year follow-up. 61
18408175 2009
7
Iodine 125 plaque radiotherapy as salvage treatment for retinoblastoma recurrence after chemoreduction in 84 tumors. 61
16949158 2006
8
Visual loss in uveitis of childhood. 61
12812891 2003
9
[Preliminary report on the results of nutrition prevention trials of cancer and other common diseases among residents in Linxian, China]. 61
8261860 1993
10
[Results of oral glucose tolerance tests in 123 cases of senile cataract with associated glucose metabolism disorders]. 61
7440901 1980

Variations for Cataract 43

ClinVar genetic disease variations for Cataract 43:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UNC45B NM_001267052.2(UNC45B):c.2407C>T (p.Arg803Trp) SNV Pathogenic 187851 rs370424081 GRCh37: 17:33510479-33510479
GRCh38: 17:35183460-35183460
2 UNC45B NM_001267052.2(UNC45B):c.2209G>T (p.Ala737Ser) SNV Uncertain significance 1031710 GRCh37: 17:33504583-33504583
GRCh38: 17:35177564-35177564

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

72
# Symbol AA change Variation ID SNP ID
1 UNC45B p.Arg805Trp VAR_073375 rs370424081

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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