MCID: GLY033
MIFTS: 22

Glycogen Storage Disease of Heart, Lethal Congenital malady

Categories: Genetic diseases, Metabolic diseases, Rare 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 50 23 12
Glycogen Storage Disease of Heart Lethal Congenital 68 25
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease 52
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogenosis 52
Fatal Congenital Hypertrophic Cardiomyopathy Due to Gsd 52
 
Lethal Congenital Glycogen Storage Disease of the Heart 46
Congenital Nonlysosomal Cardiac Glycogenosis 68
Phosphorylase Kinase Deficiency of Heart 68
Gsdh 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
glycogen storage disease of heart, lethal congenital:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 261740
Orphanet52 ORPHA439854
ICD10 via Orphanet29 E74.0+, G73.6*
MedGen35 C1849813

Summaries for Glycogen Storage Disease of Heart, Lethal Congenital

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UniProtKB/Swiss-Prot:68 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, seizures and cyanosis. 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:50 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 11)
id Description Frequency HPO Source Accession
1 macroglossia rare (5%) HP:0000158
2 seizures rare (5%) HP:0001250
3 cyanosis HP:0000961
4 ascites HP:0001541
5 congestive heart failure HP:0001635
6 cardiomegaly HP:0001640
7 neonatal hypoglycemia HP:0001998
8 hypotension HP:0002615
9 shortened pr interval HP:0005165
10 pulmonary edema HP:0100598
11 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 Congenital25 23 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:

34
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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet