MCID: CTR011
MIFTS: 8

Cataract Hutterite Type

Categories: Rare diseases

Aliases & Classifications for Cataract Hutterite Type

MalaCards integrated aliases for Cataract Hutterite Type:

Name: Cataract Hutterite Type 20 29 6 71

Classifications:



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UMLS 71 C2931791

Summaries for Cataract Hutterite Type

MalaCards based summary : Cataract Hutterite Type is related to cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy. An important gene associated with Cataract Hutterite Type is LEMD2 (LEM Domain Nuclear Envelope Protein 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, with or without arrhythmic cardiomyopathy 11.4

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 29 LEMD2

Anatomical Context for Cataract Hutterite Type

Publications for Cataract Hutterite Type

Articles related to Cataract Hutterite Type:

# Title Authors PMID Year
1
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2. 6
31061923 2019
2
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. 6
26788539 2016
3
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 6
23863954 2013
4
Juvenile cataract in Hutterites. 6
4061486 1985

Variations for Cataract Hutterite Type

ClinVar genetic disease variations for Cataract Hutterite Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LEMD2 NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg) SNV Pathogenic 235192 rs878852983 6:33756856-33756856 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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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