MCID: CTR011
MIFTS: 6

Cataract Hutterite Type

Categories: Rare diseases

Aliases & Classifications for Cataract Hutterite Type

MalaCards integrated aliases for Cataract Hutterite Type:

Name: Cataract Hutterite Type 54 30 6 74

Classifications:



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UMLS 74 C2931791

Summaries for Cataract Hutterite Type

MalaCards based summary : Cataract Hutterite Type is related to cataract 46, juvenile-onset. An important gene associated with Cataract Hutterite Type is LEMD2 (LEM Domain Containing 2).

Related Diseases for Cataract Hutterite Type

Diseases related to Cataract Hutterite Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 46, juvenile-onset 11.5

Symptoms & Phenotypes for Cataract Hutterite Type

Drugs & Therapeutics for Cataract Hutterite Type

Search Clinical Trials , NIH Clinical Center for Cataract Hutterite Type

Genetic Tests for Cataract Hutterite Type

Genetic tests related to Cataract Hutterite Type:

# Genetic test Affiliating Genes
1 Cataract Hutterite Type 30 LEMD2

Anatomical Context for Cataract Hutterite Type

Publications for Cataract Hutterite Type

Articles related to Cataract Hutterite Type:

# Title Authors Year
1
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. ( 26788539 )
2016
2
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. ( 23863954 )
2013

Variations for Cataract Hutterite Type

ClinVar genetic disease variations for Cataract Hutterite Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LEMD2 NM_181336.3(LEMD2): c.38T> G (p.Leu13Arg) single nucleotide variant Pathogenic rs878852983 GRCh37 Chromosome 6, 33756856: 33756856
2 LEMD2 NM_181336.3(LEMD2): c.38T> G (p.Leu13Arg) single nucleotide variant Pathogenic rs878852983 GRCh38 Chromosome 6, 33789079: 33789079

Expression for Cataract Hutterite Type

Search GEO for disease gene expression data for Cataract Hutterite Type.

Pathways for Cataract Hutterite Type

GO Terms for Cataract Hutterite Type

Sources for Cataract Hutterite Type

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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