MCID: GLY033
MIFTS: 21

Glycogen Storage Disease of Heart, Lethal Congenital malady

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

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

About this section

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

Name: Glycogen Storage Disease of Heart, Lethal Congenital 51 24 12
Glycogen Storage Disease of Heart Lethal Congenital 69 26
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease 53
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogenosis 53
Fatal Congenital Hypertrophic Cardiomyopathy Due to Gsd 53
 
Lethal Congenital Glycogen Storage Disease of the Heart 47
Congenital Nonlysosomal Cardiac Glycogenosis 69
Phosphorylase Kinase Deficiency of Heart 69
Gsdh 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
glycogen storage disease of heart, lethal congenital:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 261740
Orphanet53 ORPHA439854
ICD10 via Orphanet30 E74.0+, G73.6*
MedGen36 C1849813

Summaries for Glycogen Storage Disease of Heart, Lethal Congenital

About this section
UniProtKB/Swiss-Prot:69 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:51 261740

Related Diseases for Glycogen Storage Disease of Heart, Lethal Congenital

About this section

Symptoms for Glycogen Storage Disease of Heart, Lethal Congenital

About this section

Symptoms by clinical synopsis from OMIM:

261740

Clinical features from OMIM:

261740

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

 63 (show all 11)
id Description HPO Frequency HPO Source Accession
1 macroglossia63 rare (5%) HP:0000158
2 seizures63 rare (5%) HP:0001250
3 cyanosis63 HP:0000961
4 ascites63 HP:0001541
5 congestive heart failure63 HP:0001635
6 cardiomegaly63 HP:0001640
7 neonatal hypoglycemia63 HP:0001998
8 hypotension63 HP:0002615
9 shortened pr interval63 HP:0005165
10 pulmonary edema63 HP:0100598
11 biventricular hypertrophy63 HP:0200128

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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Glycogen Storage Disease of Heart, Lethal Congenital26 24 PRKAG2

Anatomical Context for Glycogen Storage Disease of Heart, Lethal Congenital

About this section

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

35
Heart

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

About this section

Publications for Glycogen Storage Disease of Heart, Lethal Congenital

About this section

Variations for Glycogen Storage Disease of Heart, Lethal Congenital

About this section

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

69
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.1592G> A (p.Arg531Gln)SNVPathogenicrs121908991GRCh37Chr 7, 151257696: 151257696

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

About this section
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

About this section

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

About this section

Sources for Glycogen Storage Disease of Heart, Lethal Congenital

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet