CTRCT41
MCID: CTR136
MIFTS: 20

Cataract 41 (CTRCT41)

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

Aliases & Classifications for Cataract 41

MalaCards integrated aliases for Cataract 41:

Name: Cataract 41 57 12 75 29 6 73
Ctrct41 57 12 75
Cataract 41, Congenital Nuclear Type 57
Congenital Nuclear Type Cataract 41 12
Congenital Nuclear Cataract 41 75
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:

OMIM 57 116400
Disease Ontology 12 DOID:0110241
ICD10 33 Q12.0
MeSH 44 D002386
UMLS 73 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 congenital 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, congenital nuclear


Clinical features from OMIM:

116400

Human phenotypes related to Cataract 41:

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

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

Variations for Cataract 41

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

75
# Symbol AA change Variation ID SNP ID
1 WFS1 p.Glu462Gly VAR_070935 rs398123066

ClinVar genetic disease variations for Cataract 41:

6
# 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.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh37 Chromosome 4, 6303479: 6303479
4 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh38 Chromosome 4, 6301752: 6301752
5 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh37 Chromosome 4, 6293695: 6293695
6 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh38 Chromosome 4, 6291968: 6291968

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 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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