CTRCT41
MCID: CTR136
MIFTS: 23

Cataract 41 (CTRCT41)

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

Aliases & Classifications for Cataract 41

MalaCards integrated aliases for Cataract 41:

Name: Cataract 41 57 12 74 29 6 72
Ctrct41 57 12 74
Cataract 41, Congenital Nuclear Type 57
Congenital Nuclear Type Cataract 41 12
Congenital Nuclear Cataract 41 74
Cataract, Type 41 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (last curated january 2014)


HPO:

32
cataract 41:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110241
MeSH 44 D002386
ICD10 33 Q12.0
UMLS 72 C3805412

Summaries for Cataract 41

OMIM : 57 Cataract is an opacification of the lens or lens capsule in the eye and is the most common cause of childhood blindness in the world, with an incidence of 1 to 3 per 10,000 live births. If untreated in infancy or childhood, it frequently causes visual impairment and can result in irreversible amblyopia. Nuclear cataract refers to opacification within the embryonal and/or fetal nuclei of the lens (summary by Berry et al., 2013). (116400)

MalaCards based summary : Cataract 41, is also known as ctrct41. An important gene associated with Cataract 41 is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include eye, and related phenotypes are nuclear cataract and developmental cataract

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the WFS1 gene on chromosome 4p16.

UniProtKB/Swiss-Prot : 74 Cataract 41: 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.

Symptoms & Phenotypes for Cataract 41

Human phenotypes related to Cataract 41:

32
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 32 HP:0100018
2 developmental cataract 32 HP:0000519

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, congenital nuclear

Clinical features from OMIM:

116400

Drugs & Therapeutics for Cataract 41

Search Clinical Trials , NIH Clinical Center for Cataract 41

Genetic Tests for Cataract 41

Genetic tests related to Cataract 41:

# Genetic test Affiliating Genes
1 Cataract 41 29 WFS1

Anatomical Context for Cataract 41

MalaCards organs/tissues related to Cataract 41:

41
Eye

Publications for Cataract 41

Articles related to Cataract 41:

# Title Authors PMID Year
1
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. 8 71
23531866 2013
2
Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)]. 8
3662912 1987
3
Rapid assessment of avoidable blindness and diabetic retinopathy in Taif, Saudi Arabia. 38
22790436 2012
4
Assessment of interrelationship between poverty and blindness in Maiduguri, Nigeria. 38
21809610 2010
5
Cataract surgery and primary intraocular lens implantation in children < or = 2 years old in the UK and Ireland: finding of national surveys. 38
19854739 2009
6
[Blunt ocular trauma. Part II. Blunt posterior segment trauma]. 38
15580509 2005
7
[Retrospective analysis of 417 cases of contusion and rupture of the globe with frequent avoidable causes of trauma: the Erlangen Ocular Contusion-Registry (EOCR) 1985 - 1995]. 38
11706382 2001

Variations for Cataract 41

ClinVar genetic disease variations for Cataract 41:

6 (show all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 NM_006005.3(WFS1): c.1385A> G (p.Glu462Gly) single nucleotide variant Pathogenic rs398123066 4:6302907-6302907 4:6301180-6301180
2 WFS1 NM_006005.3(WFS1): c.716A> G (p.Lys239Arg) single nucleotide variant Uncertain significance rs727503747 4:6296771-6296771 4:6295044-6295044
3 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 4:6303479-6303479 4:6301752-6301752
4 WFS1 NM_006005.3(WFS1): c.1396G> A (p.Gly466Ser) single nucleotide variant Uncertain significance rs727503750 4:6302918-6302918 4:6301191-6301191
5 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 4:6293695-6293695 4:6291968-6291968
6 WFS1 NM_006005.3(WFS1): c.2029G> A (p.Ala677Thr) single nucleotide variant Uncertain significance rs757027394 4:6303551-6303551 4:6301824-6301824
7 WFS1 NM_006005.3(WFS1): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs147147660 4:6296783-6296783 4:6295056-6295056
8 WFS1 NM_006005.3(WFS1): c.817G> A (p.Glu273Lys) single nucleotide variant Uncertain significance rs142428158 4:6296872-6296872 4:6295145-6295145
9 WFS1 NM_006005.3(WFS1): c.1167T> G (p.Asp389Glu) single nucleotide variant Uncertain significance rs201282601 4:6302689-6302689 4:6300962-6300962
10 WFS1 NM_006005.3(WFS1): c.1371G> T (p.Arg457Ser) single nucleotide variant Uncertain significance rs113446173 4:6302893-6302893 4:6301166-6301166
11 WFS1 NM_006005.3(WFS1): c.1538A> C (p.Tyr513Ser) single nucleotide variant Uncertain significance rs544933961 4:6303060-6303060 4:6301333-6301333
12 WFS1 NM_006005.3(WFS1): c.1633G> A (p.Val545Met) single nucleotide variant Uncertain significance rs201993978 4:6303155-6303155 4:6301428-6301428
13 WFS1 NM_006005.3(WFS1): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance rs776685250 4:6292998-6292998 4:6291271-6291271
14 WFS1 NM_006005.3(WFS1): c.2494C> T (p.Arg832Cys) single nucleotide variant Uncertain significance 4:6304016-6304016 4:6302289-6302289
15 WFS1 NM_006005.3(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 4:6302601-6302601 4:6300874-6300874
16 WFS1 NM_006005.3(WFS1): c.1724C> G (p.Ala575Gly) single nucleotide variant Uncertain significance rs71524360 4:6303246-6303246 4:6301519-6301519
17 WFS1 NM_006005.3(WFS1): c.1124G> A (p.Arg375His) single nucleotide variant Uncertain significance rs142671083 4:6302646-6302646 4:6300919-6300919

UniProtKB/Swiss-Prot genetic disease variations for Cataract 41:

74
# Symbol AA change Variation ID SNP ID
1 WFS1 p.Glu462Gly VAR_070935 rs398123066

Expression for Cataract 41

Search GEO for disease gene expression data for Cataract 41.

Pathways for Cataract 41

GO Terms for Cataract 41

Sources for Cataract 41

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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