MCID: GLY033
MIFTS: 23

Glycogen Storage Disease of Heart, Lethal Congenital

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

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

MalaCards integrated aliases for Glycogen Storage Disease of Heart, Lethal Congenital:

Name: Glycogen Storage Disease of Heart, Lethal Congenital 53 28 13
Phosphorylase Kinase Deficiency of Heart 53 12 71
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogenosis 12 55
Fatal Congenital Hypertrophic Cardiomyopathy Due to Gsd 12 55
Glycogen Storage Disease of Heart 53 36
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease 55
Lethal Congenital Glycogen Storage Disease of the Heart 49
Lethal Congenital Glycogen Storage Disease of Heart 12
Glycogen Storage Disease of Heart Lethal Congenital 71
Fatal Congenital Nonlysosomal Cardiac Glycogenosis 12
Fatal Congenital Nonlysosomal Heart Glycogenosis 69
Congenital Nonlysosomal Cardiac Glycogenosis 71
Gsdh 71

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
death in neonatal period


HPO:

31
glycogen storage disease of heart, lethal congenital:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


Summaries for Glycogen Storage Disease of Heart, Lethal Congenital

Disease Ontology : 12 A glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material basis in heterozygous mutation in the PRKAG2 gene on chromosome 7q36.

MalaCards based summary : Glycogen Storage Disease of Heart, Lethal Congenital, is also known as phosphorylase kinase deficiency of heart, and has symptoms including cyanosis, seizures and hypotension. An important gene associated with Glycogen Storage Disease of Heart, Lethal Congenital is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are AMPK signaling pathway and Insulin signaling pathway. Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 261740

Related Diseases for Glycogen Storage Disease of Heart, Lethal Congenital

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

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Vascular:
hypotension

Abdomen External Features:
ascites

Respiratory Lung:
pulmonary edema
plural effusion

Head And Neck Mouth:
macroglossia (in some patients)

Muscle Soft Tissue:
vacuolar myopathy
atrophy, mild (in some cases)
increased glycogen in muscle (but to a lesser extent than in the heart)
normal phosphorylase kinase activity in muscle

Cardiovascular Heart:
cardiomegaly
congestive heart failure
biventricular hypertrophy
bradycardia, persistent, onset in utero
short pr interval
more
Metabolic Features:
neonatal hypoglycemia

Head And Neck Face:
dysmorphic facies, mild (in some patients)

Genitourinary Kidneys:
renomegaly

Neurologic Central Nervous System:
seizures (in 1 patient)


Clinical features from OMIM:

261740

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cyanosis 31 HP:0000961
2 seizures 31 occasional (7.5%) HP:0001250
3 hypotension 31 HP:0002615
4 macroglossia 31 occasional (7.5%) HP:0000158
5 abnormal facial shape 31 occasional (7.5%) HP:0001999
6 cardiomegaly 31 HP:0001640
7 ascites 31 HP:0001541
8 congestive heart failure 31 HP:0001635
9 neonatal hypoglycemia 31 HP:0001998
10 pulmonary edema 31 HP:0100598
11 shortened pr interval 31 HP:0005165
12 biventricular hypertrophy 31 HP:0200128

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

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

Genetic Tests for Glycogen Storage Disease of Heart, Lethal Congenital

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

# Genetic test Affiliating Genes
1 Glycogen Storage Disease of Heart, Lethal Congenital 28 PRKAG2

Anatomical Context for Glycogen Storage Disease of Heart, Lethal Congenital

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

38
Heart

Publications for Glycogen Storage Disease of Heart, Lethal Congenital

Variations for Glycogen Storage Disease of Heart, Lethal Congenital

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

71
# Symbol AA change Variation ID SNP ID
1 PRKAG2 p.Arg531Gln VAR_013269 rs121908991

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAG2 NM_016203.3(PRKAG2): c.1151G> C (p.Arg384Thr) single nucleotide variant Pathogenic rs730882148 GRCh37 Chromosome 7, 151265884: 151265884
2 PRKAG2 NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 GRCh37 Chromosome 7, 151273498: 151273498
3 PRKAG2 NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln) single nucleotide variant Pathogenic rs121908991 GRCh37 Chromosome 7, 151257696: 151257696

Expression for Glycogen Storage Disease of Heart, Lethal Congenital

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

Pathways for Glycogen Storage Disease of Heart, Lethal Congenital

Pathways related to Glycogen Storage Disease of Heart, Lethal Congenital according to KEGG:

36
# Name Kegg Source Accession
1 AMPK signaling pathway hsa04152
2 Insulin signaling pathway hsa04910
3 Glucagon signaling pathway hsa04922

GO Terms for Glycogen Storage Disease of Heart, Lethal Congenital

Sources for Glycogen Storage Disease of Heart, Lethal Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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