MCID: GLY033
MIFTS: 23

Glycogen Storage Disease of Heart, Lethal Congenital

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Cardiovascular 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 57 29 13 6
Phosphorylase Kinase Deficiency of Heart 57 12 75
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogenosis 12 59
Fatal Congenital Hypertrophic Cardiomyopathy Due to Gsd 12 59
Glycogen Storage Disease of Heart 57 37
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease 59
Storage Disease, Glycogen, Type of Heart, Lethal Congenital 40
Lethal Congenital Glycogen Storage Disease of the Heart 53
Lethal Congenital Glycogen Storage Disease of Heart 12
Glycogen Storage Disease of Heart Lethal Congenital 75
Fatal Congenital Nonlysosomal Cardiac Glycogenosis 12
Fatal Congenital Nonlysosomal Heart Glycogenosis 73
Congenital Nonlysosomal Cardiac Glycogenosis 75
Gsdh 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

Miscellaneous:
death in neonatal period


HPO:

32
glycogen storage disease of heart, lethal congenital:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
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. 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 hypotension

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 hypotension 32 HP:0002615
3 macroglossia 32 occasional (7.5%) HP:0000158
4 abnormal facial shape 32 occasional (7.5%) HP:0001999
5 cardiomegaly 32 HP:0001640
6 ascites 32 HP:0001541
7 congestive heart failure 32 HP:0001635
8 neonatal hypoglycemia 32 HP:0001998
9 cyanosis 32 HP:0000961
10 pulmonary edema 32 HP:0100598
11 shortened pr interval 32 HP:0005165
12 biventricular hypertrophy 32 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 29 PRKAG2

Anatomical Context for Glycogen Storage Disease of Heart, Lethal Congenital

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

41
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:

75
# 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 228)
# 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.1296G> A (p.Thr432=) single nucleotide variant Benign rs114079815 GRCh37 Chromosome 7, 151262909: 151262909
6 PRKAG2 NM_016203.3(PRKAG2): c.1296G> A (p.Thr432=) single nucleotide variant Benign rs114079815 GRCh38 Chromosome 7, 151565823: 151565823
7 PRKAG2 NM_016203.3(PRKAG2): c.807G> A (p.Lys269=) single nucleotide variant Likely benign rs727504618 GRCh37 Chromosome 7, 151292488: 151292488
8 PRKAG2 NM_016203.3(PRKAG2): c.807G> A (p.Lys269=) single nucleotide variant Likely benign rs727504618 GRCh38 Chromosome 7, 151595402: 151595402
9 PRKAG2 NM_016203.3(PRKAG2): c.472G> A (p.Gly158Ser) single nucleotide variant Likely benign rs727504512 GRCh37 Chromosome 7, 151372718: 151372718
10 PRKAG2 NM_016203.3(PRKAG2): c.472G> A (p.Gly158Ser) single nucleotide variant Likely benign rs727504512 GRCh38 Chromosome 7, 151675632: 151675632
11 PRKAG2 NM_016203.3(PRKAG2): c.250C> T (p.Arg84Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746358 GRCh37 Chromosome 7, 151478454: 151478454
12 PRKAG2 NM_016203.3(PRKAG2): c.250C> T (p.Arg84Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746358 GRCh38 Chromosome 7, 151781368: 151781368
13 PRKAG2 NM_016203.3(PRKAG2): c.521C> T (p.Thr174Met) single nucleotide variant Uncertain significance rs148056866 GRCh37 Chromosome 7, 151372669: 151372669
14 PRKAG2 NM_016203.3(PRKAG2): c.521C> T (p.Thr174Met) single nucleotide variant Uncertain significance rs148056866 GRCh38 Chromosome 7, 151675583: 151675583
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.202G> A (p.Gly68Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs730880970 GRCh38 Chromosome 7, 151781416: 151781416
22 PRKAG2 NM_016203.3(PRKAG2): c.202G> A (p.Gly68Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs730880970 GRCh37 Chromosome 7, 151478502: 151478502
23 PRKAG2 NM_016203.3(PRKAG2): c.131C> T (p.Ala44Val) single nucleotide variant Uncertain significance rs730880984 GRCh38 Chromosome 7, 151786525: 151786525
24 PRKAG2 NM_016203.3(PRKAG2): c.131C> T (p.Ala44Val) single nucleotide variant Uncertain significance rs730880984 GRCh37 Chromosome 7, 151483611: 151483611
25 PRKAG2 NM_016203.3(PRKAG2): c.1151G> C (p.Arg384Thr) single nucleotide variant Pathogenic rs730882148 GRCh37 Chromosome 7, 151265884: 151265884
26 PRKAG2 NM_016203.3(PRKAG2): c.1151G> C (p.Arg384Thr) single nucleotide variant Pathogenic rs730882148 GRCh38 Chromosome 7, 151568798: 151568798
27 PRKAG2 NM_016203.3(PRKAG2): c.1310C> G (p.Ala437Gly) single nucleotide variant Uncertain significance rs762111172 GRCh38 Chromosome 7, 151565809: 151565809
28 PRKAG2 NM_016203.3(PRKAG2): c.1310C> G (p.Ala437Gly) single nucleotide variant Uncertain significance rs762111172 GRCh37 Chromosome 7, 151262895: 151262895
29 PRKAG2 NM_016203.3(PRKAG2): c.488C> T (p.Pro163Leu) single nucleotide variant Uncertain significance rs876657963 GRCh38 Chromosome 7, 151675616: 151675616
30 PRKAG2 NM_016203.3(PRKAG2): c.488C> T (p.Pro163Leu) single nucleotide variant Uncertain significance rs876657963 GRCh37 Chromosome 7, 151372702: 151372702
31 PRKAG2 NM_016203.3(PRKAG2): c.1378C> G (p.Leu460Val) single nucleotide variant Uncertain significance rs878855018 GRCh37 Chromosome 7, 151262827: 151262827
32 PRKAG2 NM_016203.3(PRKAG2): c.1378C> G (p.Leu460Val) single nucleotide variant Uncertain significance rs878855018 GRCh38 Chromosome 7, 151565741: 151565741
33 PRKAG2 NM_016203.3(PRKAG2): c.1335C> T (p.Ile445=) single nucleotide variant Likely benign rs781153622 GRCh37 Chromosome 7, 151262870: 151262870
34 PRKAG2 NM_016203.3(PRKAG2): c.1335C> T (p.Ile445=) single nucleotide variant Likely benign rs781153622 GRCh38 Chromosome 7, 151565784: 151565784
35 PRKAG2 NM_016203.3(PRKAG2): c.1201C> G (p.His401Asp) single nucleotide variant Uncertain significance rs878855017 GRCh38 Chromosome 7, 151568748: 151568748
36 PRKAG2 NM_016203.3(PRKAG2): c.1201C> G (p.His401Asp) single nucleotide variant Uncertain significance rs878855017 GRCh37 Chromosome 7, 151265834: 151265834
37 PRKAG2 NM_016203.3(PRKAG2): c.1051+10A> G single nucleotide variant Likely benign rs773560289 GRCh37 Chromosome 7, 151269740: 151269740
38 PRKAG2 NM_016203.3(PRKAG2): c.1051+10A> G single nucleotide variant Likely benign rs773560289 GRCh38 Chromosome 7, 151572654: 151572654
39 PRKAG2 NM_016203.3(PRKAG2): c.699_701dupGGC (p.Ala234_Leu235insAla) duplication Uncertain significance rs878855020 GRCh38 Chromosome 7, 151632122: 151632124
40 PRKAG2 NM_016203.3(PRKAG2): c.699_701dupGGC (p.Ala234_Leu235insAla) duplication Uncertain significance rs878855020 GRCh37 Chromosome 7, 151329208: 151329210
41 PRKAG2 NM_016203.3(PRKAG2): c.593C> T (p.Pro198Leu) single nucleotide variant Uncertain significance rs41317142 GRCh37 Chromosome 7, 151372597: 151372597
42 PRKAG2 NM_016203.3(PRKAG2): c.593C> T (p.Pro198Leu) single nucleotide variant Uncertain significance rs41317142 GRCh38 Chromosome 7, 151675511: 151675511
43 PRKAG2 NM_016203.3(PRKAG2): c.361A> G (p.Met121Val) single nucleotide variant Uncertain significance rs760511236 GRCh38 Chromosome 7, 151781257: 151781257
44 PRKAG2 NM_016203.3(PRKAG2): c.361A> G (p.Met121Val) single nucleotide variant Uncertain significance rs760511236 GRCh37 Chromosome 7, 151478343: 151478343
45 PRKAG2 NM_016203.3(PRKAG2): c.161G> A (p.Gly54Asp) single nucleotide variant Uncertain significance rs878855019 GRCh37 Chromosome 7, 151483581: 151483581
46 PRKAG2 NM_016203.3(PRKAG2): c.161G> A (p.Gly54Asp) single nucleotide variant Uncertain significance rs878855019 GRCh38 Chromosome 7, 151786495: 151786495
47 PRKAG2 NM_016203.3(PRKAG2): c.-26C> T single nucleotide variant Likely benign rs66628686 GRCh37 Chromosome 7, 151573731: 151573731
48 PRKAG2 NM_016203.3(PRKAG2): c.-26C> T single nucleotide variant Likely benign rs66628686 GRCh38 Chromosome 7, 151876646: 151876646
49 PRKAG2 NM_016203.3(PRKAG2): c.*1061G> A single nucleotide variant Likely benign rs7429 GRCh37 Chromosome 7, 151253226: 151253226
50 PRKAG2 NM_016203.3(PRKAG2): c.*1061G> A single nucleotide variant Likely benign rs7429 GRCh38 Chromosome 7, 151556140: 151556140

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:

37
# 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 ExPASy
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31 HMDB
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58 OMIM via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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