Cataract Hutterite Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Cataract Hutterite Type

MalaCards integrated aliases for Cataract Hutterite Type:

Name: Cataract Hutterite Type ²⁰ ²⁹ ⁶ ⁷¹

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C2931791

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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).

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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

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Symptoms & Phenotypes for Cataract Hutterite Type

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Drugs & Therapeutics for Cataract Hutterite Type

Search Clinical Trials , NIH Clinical Center for Cataract Hutterite Type

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Genetic Tests for Cataract Hutterite Type

Genetic tests related to Cataract Hutterite Type:

#	Genetic test	Affiliating Genes
1	Cataract Hutterite Type ²⁹	LEMD2

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Anatomical Context for Cataract Hutterite Type

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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	Abdelfatah N...Gerull B	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	Boone PM...Lewis RA	26788539	2016
3	Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. ⁶	Gerull B...Duff HJ	23863954	2013
4	Juvenile cataract in Hutterites. ⁶	Shokeir MH...Lowry RB	4061486	1985

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Genes for Cataract Hutterite Type

Genes related to Cataract Hutterite Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LEMD2	LEM Domain Nuclear Envelope Protein 2	Protein Coding	507.26	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	26788539 23863954 4061486 (more) 31061923

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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

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Expression for Cataract Hutterite Type

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

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Pathways for Cataract Hutterite Type

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GO Terms for Cataract Hutterite Type

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