MCID: LTH019
MIFTS: 12

Lethal Congenital Glycogen Storage Disease of the Heart malady

Summaries for Lethal Congenital Glycogen Storage Disease of the Heart

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46OMIM, 32MalaCards
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MalaCards: Lethal Congenital Glycogen Storage Disease of the Heart, is also known as glycogen storage disease of heart, lethal congenital An important gene associated with Lethal Congenital Glycogen Storage Disease of the Heart is PRKAG2 (protein kinase, AMP-activated, gamma 2 non-catalytic subunit). Affiliated tissues include heart.

Description from OMIM:46 261740

Aliases & Classifications for Lethal Congenital Glycogen Storage Disease of the Heart

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM
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Aliases & Descriptions:

lethal congenital glycogen storage disease of the heart 42 20 22
glycogen storage disease of heart, lethal congenital 46


Related Diseases for Lethal Congenital Glycogen Storage Disease of the Heart

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Clinical Features for Lethal Congenital Glycogen Storage Disease of the Heart

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46OMIM
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Clinical features from OMIM:

261740

Clinical synopsis from OMIM:

261740

Drugs & Therapeutics for Lethal Congenital Glycogen Storage Disease of the Heart

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Lethal Congenital Glycogen Storage Disease of the Heart

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Genetic Tests for Lethal Congenital Glycogen Storage Disease of the Heart

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20GeneTests, 22GTR
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Genetic tests related to Lethal Congenital Glycogen Storage Disease of the Heart:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease of Heart, Lethal Congenital20 22 PRKAG2

Anatomical Context for Lethal Congenital Glycogen Storage Disease of the Heart

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32MalaCards
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MalaCards organs/tissues related to Lethal Congenital Glycogen Storage Disease of the Heart:

32
Heart

Animal Models for Lethal Congenital Glycogen Storage Disease of the Heart or affiliated genes

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Publications for Lethal Congenital Glycogen Storage Disease of the Heart

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Genetic Variations for Lethal Congenital Glycogen Storage Disease of the Heart

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Lethal Congenital Glycogen Storage Disease of the Heart:

62
id Symbol AA change Variation ID SNP ID
1PRKAG2p.Arg531GlnVAR_013269

Expression for genes affiliated with Lethal Congenital Glycogen Storage Disease of the Heart

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lethal Congenital Glycogen Storage Disease of the Heart

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Pathways for genes affiliated with Lethal Congenital Glycogen Storage Disease of the Heart

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Compounds for genes affiliated with Lethal Congenital Glycogen Storage Disease of the Heart

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GO Terms for genes affiliated with Lethal Congenital Glycogen Storage Disease of the Heart

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Products for genes affiliated with Lethal Congenital Glycogen Storage Disease of the Heart

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lethal Congenital Glycogen Storage Disease of the Heart

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet