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 ⁵⁴ ³⁰ ⁶ ⁷⁴

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁴ C2931791

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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).

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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	11.5

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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 ³⁰	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	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 )	Boone PM...Lewis RA	2016
2	Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. ( 23863954 )	Gerull B...Duff HJ	2013

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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	PubmedIds
1	LEMD2	LEM Domain Containing 2	Protein Coding	517.53	Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Variants (show sections)	26788539 23863954

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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

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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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