GSDH
MCID: GLY033
MIFTS: 21

Glycogen Storage Disease of Heart, Lethal Congenital (GSDH) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Cardiovascular diseases

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 52 24 12
Glycogen Storage Disease of Heart Lethal Congenital 70 27
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease 54
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogenosis 54
Fatal Congenital Hypertrophic Cardiomyopathy Due to Gsd 54
 
Lethal Congenital Glycogen Storage Disease of the Heart 48
Congenital Nonlysosomal Cardiac Glycogenosis 70
Phosphorylase Kinase Deficiency of Heart 70
Gsdh 70

Characteristics:

Orphanet epidemiological data:

54
fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile

HPO:

64
glycogen storage disease of heart, lethal congenital:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 261740
Orphanet54 ORPHA439854
ICD10 via Orphanet31 E74.0+, G73.6*
MedGen37 C1849813

Summaries for Glycogen Storage Disease of Heart, Lethal Congenital

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UniProtKB/Swiss-Prot:70 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 glycogen storage disease of heart lethal congenital, and has symptoms including macroglossia, cyanosis and seizures. An important gene associated with Glycogen Storage Disease of Heart, Lethal Congenital is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2). Affiliated tissues include heart.

Description from OMIM:52 261740

Related Diseases for Glycogen Storage Disease of Heart, Lethal Congenital

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Symptoms & Phenotypes for Glycogen Storage Disease of Heart, Lethal Congenital

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Symptoms by clinical synopsis from OMIM:

261740

Clinical features from OMIM:

261740

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

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 macroglossia64 HP:0000158
2 cyanosis64 HP:0000961
3 seizures64 HP:0001250
4 ascites64 HP:0001541
5 congestive heart failure64 HP:0001635
6 cardiomegaly64 HP:0001640
7 neonatal hypoglycemia64 HP:0001998
8 hypotension64 HP:0002615
9 shortened pr interval64 HP:0005165
10 pulmonary edema64 HP:0100598
11 biventricular hypertrophy64 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 Congenital27 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:

36
Heart

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:

70
id Symbol AA change Variation ID SNP ID
1PRKAG2p.Arg531GlnVAR_013269rs121908991

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)SNVPathogenicrs730882148GRCh37Chr 7, 151265884: 151265884
2PRKAG2NM_ 016203.3(PRKAG2): c.905G> A (p.Arg302Gln)SNVPathogenicrs121908987GRCh37Chr 7, 151273498: 151273498
3PRKAG2NM_ 016203.3(PRKAG2): c.1592G> A (p.Arg531Gln)SNVPathogenicrs121908991GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet