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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MalaCards based summary: Lethal Congenital Glycogen Storage Disease of the Heart, is also known as glycogen storage disease of heart, lethal congenital and has symptoms including 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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Lethal Congenital Glycogen Storage Disease of the Heart, Aliases & Descriptions:

Name: Lethal Congenital Glycogen Storage Disease of the Heart 42 20 22
 
Glycogen Storage Disease of Heart, Lethal Congenital 46


Classifications:

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


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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Symptoms by clinical synopsis from OMIM:

261740

Clinical features from OMIM:

261740

HPO human phenotypes related to Lethal Congenital Glycogen Storage Disease of the Heart:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cyanosis HP:0000961
3 congestive heart failure HP:0001635
4 cardiomegaly HP:0001640
5 neonatal hypoglycemia HP:0001998
6 shortened pr interval HP:0005165

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

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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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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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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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Variations for Lethal Congenital Glycogen Storage Disease of the Heart

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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:

6
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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Expression patterns in normal tissues for genes affiliated with Lethal Congenital Glycogen Storage Disease of the Heart

Search GEO for disease gene expression data for Lethal Congenital Glycogen Storage Disease of the Heart.

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet