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 56 12 73 29 6 71
Ctrct41 56 12 73
Cataract 41, Congenital Nuclear Type 56
Congenital Nuclear Type Cataract 41 12
Congenital Nuclear Cataract 41 73
Cataract, Type 41 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cataract 41:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110241
OMIM 56 116400
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
UMLS 71 C3805412

Summaries for Cataract 41

OMIM : 56 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 developmental cataract and nuclear cataract

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

UniProtKB/Swiss-Prot : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 developmental cataract 31 HP:0000519
2 nuclear cataract 31 HP:0100018

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
23531866 2013
2
Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)]. 56
3662912 1987
3
Rapid assessment of avoidable blindness and diabetic retinopathy in Taif, Saudi Arabia. 61
22790436 2012
4
Assessment of interrelationship between poverty and blindness in Maiduguri, Nigeria. 61
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. 61
19854739 2009
6
[Blunt ocular trauma. Part II. Blunt posterior segment trauma]. 61
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]. 61
11706382 2001

Variations for Cataract 41

ClinVar genetic disease variations for Cataract 41:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)SNV Pathogenic 92252 rs398123066 4:6302907-6302907 4:6301180-6301180
2 WFS1 NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)SNV Uncertain significance 374398 rs147157374 4:6302601-6302601 4:6300874-6300874
3 WFS1 NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys)SNV Uncertain significance 592097 rs148089728 4:6304016-6304016 4:6302289-6302289
4 WFS1 NM_006005.3(WFS1):c.1124G>A (p.Arg375His)SNV Uncertain significance 504709 rs142671083 4:6302646-6302646 4:6300919-6300919
5 WFS1 NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)SNV Uncertain significance 440419 rs71524360 4:6303246-6303246 4:6301519-6301519
6 WFS1 NM_006005.3(WFS1):c.1633G>A (p.Val545Met)SNV Uncertain significance 215391 rs201993978 4:6303155-6303155 4:6301428-6301428
7 WFS1 NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser)SNV Uncertain significance 215412 rs544933961 4:6303060-6303060 4:6301333-6301333
8 WFS1 NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)SNV Uncertain significance 215389 rs113446173 4:6302893-6302893 4:6301166-6301166
9 WFS1 NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)SNV Uncertain significance 215385 rs201282601 4:6302689-6302689 4:6300962-6300962
10 WFS1 NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)SNV Uncertain significance 215382 rs142428158 4:6296872-6296872 4:6295145-6295145
11 WFS1 NM_006005.3(WFS1):c.728C>T (p.Ala243Val)SNV Uncertain significance 215381 rs147147660 4:6296783-6296783 4:6295056-6295056
12 WFS1 NM_006005.3(WFS1):c.683G>A (p.Arg228His)SNV Uncertain significance 198190 rs150771247 4:6293695-6293695 4:6291968-6291968
13 WFS1 NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)SNV Uncertain significance 166574 rs727503747 4:6296771-6296771 4:6295044-6295044
14 WFS1 NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)SNV Uncertain significance 178597 rs201064551 4:6303479-6303479 4:6301752-6301752
15 WFS1 NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser)SNV Uncertain significance 166589 rs727503750 4:6302918-6302918 4:6301191-6301191
16 WFS1 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr)SNV Uncertain significance 198834 rs757027394 4:6303551-6303551 4:6301824-6301824
17 WFS1 NM_006005.3(WFS1):c.535G>A (p.Ala179Thr)SNV Uncertain significance 229647 rs776685250 4:6292998-6292998 4:6291271-6291271

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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