MCID: LTH019
MIFTS: 14

Lethal Congenital Glycogen Storage Disease of the Heart malady

Genetic diseases, Rare diseases categories
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Summaries for Lethal Congenital Glycogen Storage Disease of the Heart

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47OMIM, 33MalaCards
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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:47 261740

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

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM
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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 43 20 22
glycogen storage disease of heart, lethal congenital 47


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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Lethal Congenital Glycogen Storage Disease of the Heart

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

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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33MalaCards
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MalaCards organs/tissues related to Lethal Congenital Glycogen Storage Disease of the Heart:

33
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:
64UniProtKB/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:

64
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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2BioGPS, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet