MCID: GLY033
MIFTS: 21

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 49 11
Lethal Congenital Glycogen Storage Disease of the Heart 45 22 24
Glycogen Storage Disease of Heart Lethal Congenital 67
 
Congenital Nonlysosomal Cardiac Glycogenosis 67
Phosphorylase Kinase Deficiency of Heart 67
Gsdh 67


Classifications:



External Ids:

OMIM49 261740
MedGen34 C1849813

Summaries for Glycogen Storage Disease of Heart, Lethal Congenital

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UniProtKB/Swiss-Prot:67 Glycogen storage disease of heart lethal congenital: Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise.

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 macroglossia, seizures and autosomal recessive inheritance. 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:49 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 12)
id Description Frequency HPO Source Accession
1 macroglossia rare (5%) HP:0000158
2 seizures rare (5%) HP:0001250
3 autosomal recessive inheritance HP:0000007
4 cyanosis HP:0000961
5 ascites HP:0001541
6 congestive heart failure HP:0001635
7 cardiomegaly HP:0001640
8 neonatal hypoglycemia HP:0001998
9 hypotension HP:0002615
10 shortened pr interval HP:0005165
11 pulmonary edema HP:0100598
12 biventricular hypertrophy HP:0200128

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

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Interventional clinical trials:

Search ClinicalTrials, 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 Congenital22 24 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:

33
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:

67
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.1151G> C (p.Arg384Thr)single nucleotide variantPathogenicrs730882148GRCh37Chr 7, 151265884: 151265884
2PRKAG2NM_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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet