GSDH
MCID: GLY033
MIFTS: 27

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 dominant inheritance autosomal recessive 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 pulmonary edema 33 HP:0100598
13 bradycardia 33 HP:0001662
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

Articles related to Glycogen Storage Disease of Heart, Lethal Congenital:

# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ( 25173338 )
2014
4
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
5
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
6
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. ( 17667862 )
2007
7
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. ( 15877279 )
2005
8
Fetal bradycardia at 28 weeks of gestation associated with cardiac glycogen phosphorylase b kinase deficiency. ( 14696860 )
2003
9
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. ( 10368461 )
1999

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 332)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAG2 NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 GRCh37 Chromosome 7, 151273498: 151273498
2 PRKAG2 NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 GRCh38 Chromosome 7, 151576412: 151576412
3 PRKAG2 NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln) single nucleotide variant Pathogenic rs121908991 GRCh37 Chromosome 7, 151257696: 151257696
4 PRKAG2 NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln) single nucleotide variant Pathogenic rs121908991 GRCh38 Chromosome 7, 151560610: 151560610
5 PRKAG2 NM_016203.3(PRKAG2): c.1593G> A (p.Arg531=) single nucleotide variant Conflicting interpretations of pathogenicity rs148197254 GRCh37 Chromosome 7, 151257695: 151257695
6 PRKAG2 NM_016203.3(PRKAG2): c.1593G> A (p.Arg531=) single nucleotide variant Conflicting interpretations of pathogenicity rs148197254 GRCh38 Chromosome 7, 151560609: 151560609
7 PRKAG2 NM_016203.3(PRKAG2): c.298G> A (p.Gly100Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs79474211 GRCh37 Chromosome 7, 151478406: 151478406
8 PRKAG2 NM_016203.3(PRKAG2): c.298G> A (p.Gly100Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs79474211 GRCh38 Chromosome 7, 151781320: 151781320
9 PRKAG2 NM_016203.3(PRKAG2): c.*3G> A single nucleotide variant Benign/Likely benign rs113234987 GRCh37 Chromosome 7, 151254284: 151254284
10 PRKAG2 NM_016203.3(PRKAG2): c.*3G> A single nucleotide variant Benign/Likely benign rs113234987 GRCh38 Chromosome 7, 151557198: 151557198
11 PRKAG2 NM_016203.3(PRKAG2): c.1098A> G (p.Pro366=) single nucleotide variant Conflicting interpretations of pathogenicity rs116541276 GRCh37 Chromosome 7, 151267265: 151267265
12 PRKAG2 NM_016203.3(PRKAG2): c.1098A> G (p.Pro366=) single nucleotide variant Conflicting interpretations of pathogenicity rs116541276 GRCh38 Chromosome 7, 151570179: 151570179
13 PRKAG2 NM_016203.3(PRKAG2): c.1106+9G> C single nucleotide variant Benign/Likely benign rs200429988 GRCh37 Chromosome 7, 151267248: 151267248
14 PRKAG2 NM_016203.3(PRKAG2): c.1106+9G> C single nucleotide variant Benign/Likely benign rs200429988 GRCh38 Chromosome 7, 151570162: 151570162
15 PRKAG2 NM_016203.3(PRKAG2): c.111T> A (p.Ile37=) single nucleotide variant Conflicting interpretations of pathogenicity rs144426409 GRCh37 Chromosome 7, 151573595: 151573595
16 PRKAG2 NM_016203.3(PRKAG2): c.111T> A (p.Ile37=) single nucleotide variant Conflicting interpretations of pathogenicity rs144426409 GRCh38 Chromosome 7, 151876510: 151876510
17 PRKAG2 NM_016203.3(PRKAG2): c.114+12C> T single nucleotide variant Benign/Likely benign rs77902041 GRCh37 Chromosome 7, 151573580: 151573580
18 PRKAG2 NM_016203.3(PRKAG2): c.114+12C> T single nucleotide variant Benign/Likely benign rs77902041 GRCh38 Chromosome 7, 151876495: 151876495
19 PRKAG2 NM_016203.3(PRKAG2): c.123C> T (p.Ser41=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517263 GRCh37 Chromosome 7, 151483619: 151483619
20 PRKAG2 NM_016203.3(PRKAG2): c.123C> T (p.Ser41=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517263 GRCh38 Chromosome 7, 151786533: 151786533
21 PRKAG2 NM_016203.3(PRKAG2): c.1267C> A (p.Gln423Lys) single nucleotide variant Uncertain significance rs147349145 GRCh37 Chromosome 7, 151262938: 151262938
22 PRKAG2 NM_016203.3(PRKAG2): c.1267C> A (p.Gln423Lys) single nucleotide variant Uncertain significance rs147349145 GRCh38 Chromosome 7, 151565852: 151565852
23 PRKAG2 NM_016203.3(PRKAG2): c.130G> A (p.Ala44Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144857453 GRCh37 Chromosome 7, 151483612: 151483612
24 PRKAG2 NM_016203.3(PRKAG2): c.130G> A (p.Ala44Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144857453 GRCh38 Chromosome 7, 151786526: 151786526
25 PRKAG2 NM_016203.3(PRKAG2): c.1318C> T (p.His440Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201878539 GRCh37 Chromosome 7, 151262887: 151262887
26 PRKAG2 NM_016203.3(PRKAG2): c.1318C> T (p.His440Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201878539 GRCh38 Chromosome 7, 151565801: 151565801
27 PRKAG2 NM_016203.3(PRKAG2): c.1390G> A (p.Asp464Asn) single nucleotide variant Uncertain significance rs397517264 GRCh37 Chromosome 7, 151262815: 151262815
28 PRKAG2 NM_016203.3(PRKAG2): c.1390G> A (p.Asp464Asn) single nucleotide variant Uncertain significance rs397517264 GRCh38 Chromosome 7, 151565729: 151565729
29 PRKAG2 NM_016203.3(PRKAG2): c.1584+7C> T single nucleotide variant Benign/Likely benign rs111627309 GRCh37 Chromosome 7, 151261157: 151261157
30 PRKAG2 NM_016203.3(PRKAG2): c.1584+7C> T single nucleotide variant Benign/Likely benign rs111627309 GRCh38 Chromosome 7, 151564071: 151564071
31 PRKAG2 NM_016203.3(PRKAG2): c.1585-4G> A single nucleotide variant Benign/Likely benign rs373649956 GRCh37 Chromosome 7, 151257707: 151257707
32 PRKAG2 NM_016203.3(PRKAG2): c.1585-4G> A single nucleotide variant Benign/Likely benign rs373649956 GRCh38 Chromosome 7, 151560621: 151560621
33 PRKAG2 NM_016203.3(PRKAG2): c.1592G> T (p.Arg531Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908991 GRCh37 Chromosome 7, 151257696: 151257696
34 PRKAG2 NM_016203.3(PRKAG2): c.1592G> T (p.Arg531Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908991 GRCh38 Chromosome 7, 151560610: 151560610
35 PRKAG2 NM_016203.3(PRKAG2): c.1623T> C (p.Ile541=) single nucleotide variant Benign/Likely benign rs28763998 GRCh37 Chromosome 7, 151257665: 151257665
36 PRKAG2 NM_016203.3(PRKAG2): c.1623T> C (p.Ile541=) single nucleotide variant Benign/Likely benign rs28763998 GRCh38 Chromosome 7, 151560579: 151560579
37 PRKAG2 NM_016203.3(PRKAG2): c.1644G> A (p.Ser548=) single nucleotide variant Conflicting interpretations of pathogenicity rs376450705 GRCh37 Chromosome 7, 151257644: 151257644
38 PRKAG2 NM_016203.3(PRKAG2): c.1644G> A (p.Ser548=) single nucleotide variant Conflicting interpretations of pathogenicity rs376450705 GRCh38 Chromosome 7, 151560558: 151560558
39 PRKAG2 NM_016203.3(PRKAG2): c.166G> A (p.Gly56Arg) single nucleotide variant Uncertain significance rs397517266 GRCh37 Chromosome 7, 151483576: 151483576
40 PRKAG2 NM_016203.3(PRKAG2): c.166G> A (p.Gly56Arg) single nucleotide variant Uncertain significance rs397517266 GRCh38 Chromosome 7, 151786490: 151786490
41 PRKAG2 NM_016203.3(PRKAG2): c.1687C> T (p.Gln563Ter) single nucleotide variant Uncertain significance rs397517267 GRCh37 Chromosome 7, 151254310: 151254310
42 PRKAG2 NM_016203.3(PRKAG2): c.1687C> T (p.Gln563Ter) single nucleotide variant Uncertain significance rs397517267 GRCh38 Chromosome 7, 151557224: 151557224
43 PRKAG2 NM_016203.3(PRKAG2): c.1704G> A (p.Thr568=) single nucleotide variant Benign/Likely benign rs138167675 GRCh37 Chromosome 7, 151254293: 151254293
44 PRKAG2 NM_016203.3(PRKAG2): c.1704G> A (p.Thr568=) single nucleotide variant Benign/Likely benign rs138167675 GRCh38 Chromosome 7, 151557207: 151557207
45 PRKAG2 NM_016203.3(PRKAG2): c.207G> A (p.Pro69=) single nucleotide variant Benign/Likely benign rs144384573 GRCh37 Chromosome 7, 151478497: 151478497
46 PRKAG2 NM_016203.3(PRKAG2): c.207G> A (p.Pro69=) single nucleotide variant Benign/Likely benign rs144384573 GRCh38 Chromosome 7, 151781411: 151781411
47 PRKAG2 NM_016203.3(PRKAG2): c.240C> A (p.Gly80=) single nucleotide variant Conflicting interpretations of pathogenicity rs142482217 GRCh37 Chromosome 7, 151478464: 151478464
48 PRKAG2 NM_016203.3(PRKAG2): c.240C> A (p.Gly80=) single nucleotide variant Conflicting interpretations of pathogenicity rs142482217 GRCh38 Chromosome 7, 151781378: 151781378
49 PRKAG2 NM_016203.3(PRKAG2): c.247C> T (p.Pro83Ser) single nucleotide variant Likely benign rs148791216 GRCh37 Chromosome 7, 151478457: 151478457
50 PRKAG2 NM_016203.3(PRKAG2): c.247C> T (p.Pro83Ser) single nucleotide variant Likely benign rs148791216 GRCh38 Chromosome 7, 151781371: 151781371

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
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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
Content
Loading form....