MCID: GLY033
MIFTS: 16

Glycogen Storage Disease of Heart, Lethal Congenital malady

Genetic diseases, Rare diseases categories

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

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Aliases & Descriptions for Glycogen Storage Disease of Heart, Lethal Congenital:

Name: Glycogen Storage Disease of Heart, Lethal Congenital 46 9
 
Lethal Congenital Glycogen Storage Disease of the Heart 42 20 22


Classifications:



External Ids:

OMIM46 261740

Summaries for Glycogen Storage Disease of Heart, Lethal Congenital

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MalaCards based summary: Glycogen Storage Disease of Heart, Lethal Congenital, is also known as lethal congenital glycogen storage disease of the heart, and has symptoms including autosomal recessive inheritance, cyanosis and congestive heart failure. An important gene associated with Glycogen Storage Disease of Heart, Lethal Congenital is PRKAG2 (protein kinase, AMP-activated, gamma 2 non-catalytic subunit). Affiliated tissues include heart.

Description from OMIM:46 261740

Related Diseases for Glycogen Storage Disease of Heart, Lethal Congenital

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Symptoms for Glycogen Storage Disease of Heart, Lethal Congenital

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Symptoms by clinical synopsis from OMIM:

261740

Clinical features from OMIM:

261740

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

(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 Glycogen Storage Disease of Heart, Lethal Congenital

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease of Heart, Lethal Congenital

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

Genetic Tests for Glycogen Storage Disease of Heart, Lethal Congenital

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Genetic tests related to Glycogen Storage Disease of Heart, Lethal Congenital:

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

Anatomical Context for Glycogen Storage Disease of Heart, Lethal Congenital

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

31
Heart

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

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Publications for Glycogen Storage Disease of Heart, Lethal Congenital

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Variations for Glycogen Storage Disease of Heart, Lethal Congenital

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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease of Heart, Lethal Congenital:

63
id Symbol AA change Variation ID SNP ID
1PRKAG2p.Arg531GlnVAR_013269

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

5
id Gene Variation 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 Glycogen Storage Disease of Heart, Lethal Congenital

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

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

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

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

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Sources for Glycogen Storage Disease of Heart, Lethal Congenital

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet