CTRCT41
MCID: CTR136
MIFTS: 21

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 58 12 76 30 6 74
Ctrct41 58 12 76
Cataract 41, Congenital Nuclear Type 58
Congenital Nuclear Type Cataract 41 12
Congenital Nuclear Cataract 41 76
Cataract, Type 41 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cataract 41:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110241
OMIM 58 116400
MeSH 45 D002386
ICD10 34 Q12.0
UMLS 74 C3805412

Summaries for Cataract 41

OMIM : 58 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 : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 33 HP:0100018
2 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
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 30 WFS1

Anatomical Context for Cataract 41

MalaCards organs/tissues related to Cataract 41:

42
Eye

Publications for Cataract 41

Articles related to Cataract 41:

# Title Authors Year
1
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. ( 23531866 )
2013
2
Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? ( 23492873 )
2013
3
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. ( 22962670 )
2012

Variations for Cataract 41

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

76
# Symbol AA change Variation ID SNP ID
1 WFS1 p.Glu462Gly VAR_070935 rs398123066

ClinVar genetic disease variations for Cataract 41:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.1385A> G (p.Glu462Gly) single nucleotide variant Pathogenic rs398123066 GRCh37 Chromosome 4, 6302907: 6302907
2 WFS1 NM_006005.3(WFS1): c.1385A> G (p.Glu462Gly) single nucleotide variant Pathogenic rs398123066 GRCh38 Chromosome 4, 6301180: 6301180
3 WFS1 NM_006005.3(WFS1): c.716A> G (p.Lys239Arg) single nucleotide variant Uncertain significance rs727503747 GRCh37 Chromosome 4, 6296771: 6296771
4 WFS1 NM_006005.3(WFS1): c.716A> G (p.Lys239Arg) single nucleotide variant Uncertain significance rs727503747 GRCh38 Chromosome 4, 6295044: 6295044
5 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh38 Chromosome 4, 6301752: 6301752
6 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh37 Chromosome 4, 6303479: 6303479
7 WFS1 NM_006005.3(WFS1): c.1396G> A (p.Gly466Ser) single nucleotide variant Uncertain significance rs727503750 GRCh37 Chromosome 4, 6302918: 6302918
8 WFS1 NM_006005.3(WFS1): c.1396G> A (p.Gly466Ser) single nucleotide variant Uncertain significance rs727503750 GRCh38 Chromosome 4, 6301191: 6301191
9 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh37 Chromosome 4, 6293695: 6293695
10 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh38 Chromosome 4, 6291968: 6291968
11 WFS1 NM_006005.3(WFS1): c.2029G> A (p.Ala677Thr) single nucleotide variant Uncertain significance rs757027394 GRCh37 Chromosome 4, 6303551: 6303551
12 WFS1 NM_006005.3(WFS1): c.2029G> A (p.Ala677Thr) single nucleotide variant Uncertain significance rs757027394 GRCh38 Chromosome 4, 6301824: 6301824
13 WFS1 NM_006005.3(WFS1): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs147147660 GRCh38 Chromosome 4, 6295056: 6295056
14 WFS1 NM_006005.3(WFS1): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs147147660 GRCh37 Chromosome 4, 6296783: 6296783
15 WFS1 NM_006005.3(WFS1): c.817G> A (p.Glu273Lys) single nucleotide variant Uncertain significance rs142428158 GRCh37 Chromosome 4, 6296872: 6296872
16 WFS1 NM_006005.3(WFS1): c.817G> A (p.Glu273Lys) single nucleotide variant Uncertain significance rs142428158 GRCh38 Chromosome 4, 6295145: 6295145
17 WFS1 NM_006005.3(WFS1): c.1167T> G (p.Asp389Glu) single nucleotide variant Uncertain significance rs201282601 GRCh38 Chromosome 4, 6300962: 6300962
18 WFS1 NM_006005.3(WFS1): c.1167T> G (p.Asp389Glu) single nucleotide variant Uncertain significance rs201282601 GRCh37 Chromosome 4, 6302689: 6302689
19 WFS1 NM_006005.3(WFS1): c.1371G> T (p.Arg457Ser) single nucleotide variant Uncertain significance rs113446173 GRCh37 Chromosome 4, 6302893: 6302893
20 WFS1 NM_006005.3(WFS1): c.1371G> T (p.Arg457Ser) single nucleotide variant Uncertain significance rs113446173 GRCh38 Chromosome 4, 6301166: 6301166
21 WFS1 NM_006005.3(WFS1): c.1538A> C (p.Tyr513Ser) single nucleotide variant Uncertain significance rs544933961 GRCh38 Chromosome 4, 6301333: 6301333
22 WFS1 NM_006005.3(WFS1): c.1538A> C (p.Tyr513Ser) single nucleotide variant Uncertain significance rs544933961 GRCh37 Chromosome 4, 6303060: 6303060
23 WFS1 NM_006005.3(WFS1): c.1633G> A (p.Val545Met) single nucleotide variant Uncertain significance rs201993978 GRCh37 Chromosome 4, 6303155: 6303155
24 WFS1 NM_006005.3(WFS1): c.1633G> A (p.Val545Met) single nucleotide variant Uncertain significance rs201993978 GRCh38 Chromosome 4, 6301428: 6301428
25 WFS1 NM_006005.3(WFS1): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance rs776685250 GRCh37 Chromosome 4, 6292998: 6292998
26 WFS1 NM_006005.3(WFS1): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance rs776685250 GRCh38 Chromosome 4, 6291271: 6291271
27 WFS1 NM_001145853.1(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 GRCh38 Chromosome 4, 6300874: 6300874
28 WFS1 NM_001145853.1(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 GRCh37 Chromosome 4, 6302601: 6302601
29 WFS1 NM_006005.3(WFS1): c.1724C> G (p.Ala575Gly) single nucleotide variant Uncertain significance rs71524360 GRCh37 Chromosome 4, 6303246: 6303246
30 WFS1 NM_006005.3(WFS1): c.1724C> G (p.Ala575Gly) single nucleotide variant Uncertain significance rs71524360 GRCh38 Chromosome 4, 6301519: 6301519
31 WFS1 NM_006005.3(WFS1): c.1124G> A (p.Arg375His) single nucleotide variant Uncertain significance rs142671083 GRCh38 Chromosome 4, 6300919: 6300919
32 WFS1 NM_006005.3(WFS1): c.1124G> A (p.Arg375His) single nucleotide variant Uncertain significance rs142671083 GRCh37 Chromosome 4, 6302646: 6302646
33 WFS1 NM_001145853.1(WFS1): c.2494C> T (p.Arg832Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 6304016: 6304016
34 WFS1 NM_001145853.1(WFS1): c.2494C> T (p.Arg832Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 6302289: 6302289

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
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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