MCID: LTH019
MIFTS: 14

Lethal Congenital Glycogen Storage Disease of the Heart malady

Genetic diseases, Rare diseases categories

Summaries for Lethal Congenital Glycogen Storage Disease of the Heart

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Sources:
48OMIM, 34MalaCards
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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:48 261740

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

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

lethal congenital glycogen storage disease of the heart 44 21 23
glycogen storage disease of heart, lethal congenital 48


Related Diseases for Lethal Congenital Glycogen Storage Disease of the Heart

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Symptoms for Lethal Congenital Glycogen Storage Disease of the Heart

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48OMIM
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Symptoms by clinical synopsis from OMIM:

261740

Clinical features from OMIM:

261740

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Lethal Congenital Glycogen Storage Disease of the Heart

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21GeneTests, 23GTR
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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 Congenital21 23 PRKAG2

Anatomical Context for Lethal Congenital Glycogen Storage Disease of the Heart

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34MalaCards
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MalaCards organs/tissues related to Lethal Congenital Glycogen Storage Disease of the Heart:

34
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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Variations for Lethal Congenital Glycogen Storage Disease of the Heart

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Glycogen Storage Disease of the Heart:

65
id Symbol AA change Variation ID SNP ID
1PRKAG2p.Arg531GlnVAR_013269

Clinvar genetic disease variations for Lethal Congenital Glycogen Storage Disease of the Heart:

1
id Gene Name Type Significance SNP ID Assembly Location
1PRKAG2NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln)single nucleotide variantPathogenicrs121908991GRCh37Chr 7, 151257696: 151257696

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

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet