GSDH
MCID: GLY033
MIFTS: 24

Glycogen Storage Disease of Heart, Lethal Congenital (GSDH)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare 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 58 30 13 6
Phosphorylase Kinase Deficiency of Heart 58 12 76
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogenosis 12 60
Fatal Congenital Hypertrophic Cardiomyopathy Due to Gsd 12 60
Lethal Congenital Glycogen Storage Disease of Heart 12 15
Glycogen Storage Disease of Heart 58 38
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease 60
Storage Disease, Glycogen, Type of Heart, Lethal Congenital 41
Lethal Congenital Glycogen Storage Disease of the Heart 54
Glycogen Storage Disease of Heart Lethal Congenital 76
Fatal Congenital Nonlysosomal Cardiac Glycogenosis 12
Fatal Congenital Nonlysosomal Heart Glycogenosis 74
Congenital Nonlysosomal Cardiac Glycogenosis 76
Gsdh 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

Miscellaneous:
death in neonatal period


HPO:

33
glycogen storage disease of heart, lethal congenital:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
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, also known as phosphorylase kinase deficiency of heart, is related to wolff-parkinson-white syndrome. 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, and related phenotypes are seizures and macroglossia

UniProtKB/Swiss-Prot : 76 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

Diseases related to Glycogen Storage Disease of Heart, Lethal Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wolff-parkinson-white syndrome 9.5 PRKAG2 PRKAG2-AS1

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

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

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 macroglossia 33 occasional (7.5%) HP:0000158
3 abnormal facial shape 33 occasional (7.5%) HP:0001999
4 hypotension 33 HP:0002615
5 myopathy 33 HP:0003198
6 cardiomegaly 33 HP:0001640
7 ascites 33 HP:0001541
8 congestive heart failure 33 HP:0001635
9 cardiomyopathy 33 HP:0001638
10 neonatal hypoglycemia 33 HP:0001998
11 cyanosis 33 HP:0000961
12 bradycardia 33 HP:0001662
13 pulmonary edema 33 HP:0100598
14 shortened pr interval 33 HP:0005165
15 biventricular hypertrophy 33 HP:0200128

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PRKAG2

Anatomical Context for Glycogen Storage Disease of Heart, Lethal Congenital

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

42
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:

76
# 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 (show top 50) (show all 330)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAG2 NM_016203.3(PRKAG2): c.1296G> A (p.Thr432=) single nucleotide variant Benign rs114079815 GRCh38 Chromosome 7, 151565823: 151565823
2 PRKAG2 NM_016203.3(PRKAG2): c.1296G> A (p.Thr432=) single nucleotide variant Benign rs114079815 GRCh37 Chromosome 7, 151262909: 151262909
3 PRKAG2 NM_016203.3(PRKAG2): c.807G> A (p.Lys269=) single nucleotide variant Likely benign rs727504618 GRCh38 Chromosome 7, 151595402: 151595402
4 PRKAG2 NM_016203.3(PRKAG2): c.807G> A (p.Lys269=) single nucleotide variant Likely benign rs727504618 GRCh37 Chromosome 7, 151292488: 151292488
5 PRKAG2 NM_016203.3(PRKAG2): c.472G> A (p.Gly158Ser) single nucleotide variant Likely benign rs727504512 GRCh37 Chromosome 7, 151372718: 151372718
6 PRKAG2 NM_016203.3(PRKAG2): c.472G> A (p.Gly158Ser) single nucleotide variant Likely benign rs727504512 GRCh38 Chromosome 7, 151675632: 151675632
7 PRKAG2 NM_016203.3(PRKAG2): c.250C> T (p.Arg84Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746358 GRCh37 Chromosome 7, 151478454: 151478454
8 PRKAG2 NM_016203.3(PRKAG2): c.250C> T (p.Arg84Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746358 GRCh38 Chromosome 7, 151781368: 151781368
9 PRKAG2 NM_016203.3(PRKAG2): c.521C> T (p.Thr174Met) single nucleotide variant Uncertain significance rs148056866 GRCh37 Chromosome 7, 151372669: 151372669
10 PRKAG2 NM_016203.3(PRKAG2): c.521C> T (p.Thr174Met) single nucleotide variant Uncertain significance rs148056866 GRCh38 Chromosome 7, 151675583: 151675583
11 PRKAG2 NM_016203.3(PRKAG2): c.1304A> G (p.Asn435Ser) single nucleotide variant Uncertain significance rs200589374 GRCh37 Chromosome 7, 151262901: 151262901
12 PRKAG2 NM_016203.3(PRKAG2): c.1304A> G (p.Asn435Ser) single nucleotide variant Uncertain significance rs200589374 GRCh38 Chromosome 7, 151565815: 151565815
13 PRKAG2 NM_016203.3(PRKAG2): c.1703C> T (p.Thr568Met) single nucleotide variant Uncertain significance rs540525001 GRCh37 Chromosome 7, 151254294: 151254294
14 PRKAG2 NM_016203.3(PRKAG2): c.1703C> T (p.Thr568Met) single nucleotide variant Uncertain significance rs540525001 GRCh38 Chromosome 7, 151557208: 151557208
15 PRKAG2 NM_016203.3(PRKAG2): c.1004T> C (p.Met335Thr) single nucleotide variant Uncertain significance rs730880978 GRCh37 Chromosome 7, 151271978: 151271978
16 PRKAG2 NM_016203.3(PRKAG2): c.1004T> C (p.Met335Thr) single nucleotide variant Uncertain significance rs730880978 GRCh38 Chromosome 7, 151574892: 151574892
17 PRKAG2 NM_016203.3(PRKAG2): c.946+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs376173303 GRCh37 Chromosome 7, 151273454: 151273454
18 PRKAG2 NM_016203.3(PRKAG2): c.946+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs376173303 GRCh38 Chromosome 7, 151576368: 151576368
19 PRKAG2 NM_016203.3(PRKAG2): c.712G> A (p.Ala238Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200736454 GRCh38 Chromosome 7, 151632111: 151632111
20 PRKAG2 NM_016203.3(PRKAG2): c.712G> A (p.Ala238Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200736454 GRCh37 Chromosome 7, 151329197: 151329197
21 PRKAG2 NM_016203.3(PRKAG2): c.320C> T (p.Pro107Leu) single nucleotide variant Uncertain significance rs730880985 GRCh37 Chromosome 7, 151478384: 151478384
22 PRKAG2 NM_016203.3(PRKAG2): c.320C> T (p.Pro107Leu) single nucleotide variant Uncertain significance rs730880985 GRCh38 Chromosome 7, 151781298: 151781298
23 PRKAG2 NM_016203.3(PRKAG2): c.202G> A (p.Gly68Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs730880970 GRCh38 Chromosome 7, 151781416: 151781416
24 PRKAG2 NM_016203.3(PRKAG2): c.202G> A (p.Gly68Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs730880970 GRCh37 Chromosome 7, 151478502: 151478502
25 PRKAG2 NM_016203.3(PRKAG2): c.131C> T (p.Ala44Val) single nucleotide variant Uncertain significance rs730880984 GRCh38 Chromosome 7, 151786525: 151786525
26 PRKAG2 NM_016203.3(PRKAG2): c.131C> T (p.Ala44Val) single nucleotide variant Uncertain significance rs730880984 GRCh37 Chromosome 7, 151483611: 151483611
27 PRKAG2 NM_016203.3(PRKAG2): c.1151G> C (p.Arg384Thr) single nucleotide variant Pathogenic rs730882148 GRCh37 Chromosome 7, 151265884: 151265884
28 PRKAG2 NM_016203.3(PRKAG2): c.1151G> C (p.Arg384Thr) single nucleotide variant Pathogenic rs730882148 GRCh38 Chromosome 7, 151568798: 151568798
29 PRKAG2 NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 GRCh37 Chromosome 7, 151273498: 151273498
30 PRKAG2 NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 GRCh38 Chromosome 7, 151576412: 151576412
31 PRKAG2 NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln) single nucleotide variant Pathogenic rs121908991 GRCh37 Chromosome 7, 151257696: 151257696
32 PRKAG2 NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln) single nucleotide variant Pathogenic rs121908991 GRCh38 Chromosome 7, 151560610: 151560610
33 PRKAG2 NM_016203.3(PRKAG2): c.1593G> A (p.Arg531=) single nucleotide variant Conflicting interpretations of pathogenicity rs148197254 GRCh37 Chromosome 7, 151257695: 151257695
34 PRKAG2 NM_016203.3(PRKAG2): c.1593G> A (p.Arg531=) single nucleotide variant Conflicting interpretations of pathogenicity rs148197254 GRCh38 Chromosome 7, 151560609: 151560609
35 PRKAG2 NM_016203.3(PRKAG2): c.298G> A (p.Gly100Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs79474211 GRCh37 Chromosome 7, 151478406: 151478406
36 PRKAG2 NM_016203.3(PRKAG2): c.298G> A (p.Gly100Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs79474211 GRCh38 Chromosome 7, 151781320: 151781320
37 PRKAG2 NM_016203.3(PRKAG2): c.*3G> A single nucleotide variant Benign/Likely benign rs113234987 GRCh37 Chromosome 7, 151254284: 151254284
38 PRKAG2 NM_016203.3(PRKAG2): c.*3G> A single nucleotide variant Benign/Likely benign rs113234987 GRCh38 Chromosome 7, 151557198: 151557198
39 PRKAG2 NM_016203.3(PRKAG2): c.1098A> G (p.Pro366=) single nucleotide variant Conflicting interpretations of pathogenicity rs116541276 GRCh37 Chromosome 7, 151267265: 151267265
40 PRKAG2 NM_016203.3(PRKAG2): c.1098A> G (p.Pro366=) single nucleotide variant Conflicting interpretations of pathogenicity rs116541276 GRCh38 Chromosome 7, 151570179: 151570179
41 PRKAG2 NM_016203.3(PRKAG2): c.1106+9G> C single nucleotide variant Benign/Likely benign rs200429988 GRCh37 Chromosome 7, 151267248: 151267248
42 PRKAG2 NM_016203.3(PRKAG2): c.1106+9G> C single nucleotide variant Benign/Likely benign rs200429988 GRCh38 Chromosome 7, 151570162: 151570162
43 PRKAG2 NM_016203.3(PRKAG2): c.111T> A (p.Ile37=) single nucleotide variant Conflicting interpretations of pathogenicity rs144426409 GRCh37 Chromosome 7, 151573595: 151573595
44 PRKAG2 NM_016203.3(PRKAG2): c.111T> A (p.Ile37=) single nucleotide variant Conflicting interpretations of pathogenicity rs144426409 GRCh38 Chromosome 7, 151876510: 151876510
45 PRKAG2 NM_016203.3(PRKAG2): c.114+12C> T single nucleotide variant Benign/Likely benign rs77902041 GRCh37 Chromosome 7, 151573580: 151573580
46 PRKAG2 NM_016203.3(PRKAG2): c.114+12C> T single nucleotide variant Benign/Likely benign rs77902041 GRCh38 Chromosome 7, 151876495: 151876495
47 PRKAG2 NM_016203.3(PRKAG2): c.123C> T (p.Ser41=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517263 GRCh37 Chromosome 7, 151483619: 151483619
48 PRKAG2 NM_016203.3(PRKAG2): c.123C> T (p.Ser41=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517263 GRCh38 Chromosome 7, 151786533: 151786533
49 PRKAG2 NM_016203.3(PRKAG2): c.1267C> A (p.Gln423Lys) single nucleotide variant Uncertain significance rs147349145 GRCh37 Chromosome 7, 151262938: 151262938
50 PRKAG2 NM_016203.3(PRKAG2): c.1267C> A (p.Gln423Lys) single nucleotide variant Uncertain significance rs147349145 GRCh38 Chromosome 7, 151565852: 151565852

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:

38
# 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
17 EFO
18 ExPASy
20 FMA
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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