GSD0
MCID: GLY058
MIFTS: 29

Glycogen Storage Disease 0, Liver (GSD0)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease 0, Liver

MalaCards integrated aliases for Glycogen Storage Disease 0, Liver:

Name: Glycogen Storage Disease 0, Liver 58 74
Hypoglycemia with Deficiency of Glycogen Synthetase in the Liver 58 54 76 30 6
Liver Glycogen Synthase Deficiency 58 54 76 56
Liver Glycogen Storage Disease 0 58 54
Glycogen Storage Disease Type 0a 60 38
Glycogen Storage Disease Due to Hepatic Glycogen Synthase Deficiency 60
Glycogen Storage Disease Due to Liver Glycogen Synthase Deficiency 60
Gsd Due to Hepatic Glycogen Synthase Deficiency 60
Glycogen Storage Disease, Type 0, Liver 41
Glycogen Storage Disease Type 0, Liver 54
Hepatic Glycogen Synthase Deficiency 54
Glycogen Storage Disease 0 76
Glycogenosis Type 0a 60
Liver Gsd 0 54
Gsd Type 0a 60
Gsd 0a 58
Gsd0a 58
Gsd0 76

Characteristics:

Orphanet epidemiological data:

60
glycogen storage disease due to hepatic glycogen synthase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
glycogen storage disease 0, liver:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Glycogen Storage Disease 0, Liver

NIH Rare Diseases : 54 Glycogen storage disease type 0, liver (liver GSD 0), a form of glycogen storage disease (GSD), is a rare abnormality of glycogen metabolism (how the body uses and stores glycogen, the storage form of glucose). Unlike other types of GSD, liver GSD 0 does not involve excessive or abnormal glycogen storage, and causes moderately decreased glycogen stores in the liver. Symptoms typically begin in infancy or in early childhood and may include drowsiness, sweating, lack of attention, fasting hypoglycemia associated with hyperketonemia, seizures, and other findings. It is caused by a deficiency of the enzyme glycogen synthetase in the liver, due to mutations in the GYS2 gene. It is inherited in an autosomal recessive manner. Treatment involves a specific diet that includes frequent meals with high protein intake during the day, and uncooked starch in the evening. The prognosis is usually favorable when the disease is correctly managed. This condition differs from another form of GSD 0 which chiefly affects the muscles and heart (Glycogen storage disease type 0, muscle) and is thought to be caused by mutations in the GYS1 gene.

MalaCards based summary : Glycogen Storage Disease 0, Liver, also known as hypoglycemia with deficiency of glycogen synthetase in the liver, is related to glycogen storage disease 0, muscle and glycogen storage disease type 0. An important gene associated with Glycogen Storage Disease 0, Liver is GYS2 (Glycogen Synthase 2), and among its related pathways/superpathways are Starch and sucrose metabolism and Insulin signaling pathway. Affiliated tissues include liver, and related phenotypes are irritability and postprandial hyperglycemia

UniProtKB/Swiss-Prot : 76 Glycogen storage disease 0: A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia.

Description from OMIM: 240600

Related Diseases for Glycogen Storage Disease 0, Liver

Diseases related to Glycogen Storage Disease 0, Liver via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 0, muscle 12.9
2 glycogen storage disease type 0 10.3
3 syncope 10.1
4 glycogen storage disease 10.0
5 hypoglycemia 10.0

Graphical network of the top 20 diseases related to Glycogen Storage Disease 0, Liver:



Diseases related to Glycogen Storage Disease 0, Liver

Symptoms & Phenotypes for Glycogen Storage Disease 0, Liver

Human phenotypes related to Glycogen Storage Disease 0, Liver:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
2 postprandial hyperglycemia 60 33 frequent (33%) Frequent (79-30%) HP:0011998
3 glycosuria 60 33 frequent (33%) Frequent (79-30%) HP:0003076
4 ketonuria 60 33 frequent (33%) Frequent (79-30%) HP:0002919
5 ketosis 60 33 frequent (33%) Frequent (79-30%) HP:0001946
6 ketotic hypoglycemia 60 33 frequent (33%) Frequent (79-30%) HP:0012734
7 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
8 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
9 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
10 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
11 hyperlipidemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003077
12 lethargy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001254
13 abnormality of the gastrointestinal tract 60 33 occasional (7.5%) Occasional (29-5%) HP:0011024
14 elevated hepatic transaminase 33 occasional (7.5%) HP:0002910
15 elevated hepatic transaminases 60 Occasional (29-5%)
16 increased serum lactate 33 HP:0002151
17 neonatal hypoglycemia 33 HP:0001998
18 fasting hypoglycemia 33 HP:0003162

Symptoms via clinical synopsis from OMIM:

58
Neuro:
seizures

Lab:
glycogen synthetase deficiency

Metabolic:
neonatal hypoglycemia
fasting hypoglycemia
fasting hyperketonemia
hyperglycemia and hyperlactatemia with feeding

Clinical features from OMIM:

240600

Drugs & Therapeutics for Glycogen Storage Disease 0, Liver

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease 0, Liver

Genetic Tests for Glycogen Storage Disease 0, Liver

Genetic tests related to Glycogen Storage Disease 0, Liver:

# Genetic test Affiliating Genes
1 Hypoglycemia with Deficiency of Glycogen Synthetase in the Liver 30 GYS2

Anatomical Context for Glycogen Storage Disease 0, Liver

MalaCards organs/tissues related to Glycogen Storage Disease 0, Liver:

42
Liver

Publications for Glycogen Storage Disease 0, Liver

Articles related to Glycogen Storage Disease 0, Liver:

# Title Authors Year
1
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). ( 20331987 )
2010
2
The variable clinical phenotype of liver glycogen synthase deficiency. ( 18341095 )
2007
3
Long-term follow-up of a new case of liver glycogen synthase deficiency. ( 12794686 )
2003
4
Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. ( 11483824 )
2001
5
Liver glycogen synthase deficiency: a rarely diagnosed entity. ( 8831078 )
1996

Variations for Glycogen Storage Disease 0, Liver

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease 0, Liver:

76
# Symbol AA change Variation ID SNP ID
1 GYS2 p.Asn39Ser VAR_007860 rs121918423
2 GYS2 p.Ala339Pro VAR_007861 rs121918421
3 GYS2 p.His446Asp VAR_007862 rs121918425
4 GYS2 p.Pro479Gln VAR_007863 rs121918420
5 GYS2 p.Ser483Pro VAR_007864 rs121918424
6 GYS2 p.Met491Arg VAR_007865 rs121918422

ClinVar genetic disease variations for Glycogen Storage Disease 0, Liver:

6 (show top 50) (show all 141)
# Gene Variation Type Significance SNP ID Assembly Location
1 GYS2 NM_021957.4(GYS2): c.1229+11G> A single nucleotide variant Benign rs1871137 GRCh37 Chromosome 12, 21712574: 21712574
2 GYS2 NM_021957.4(GYS2): c.1229+11G> A single nucleotide variant Benign rs1871137 GRCh38 Chromosome 12, 21559640: 21559640
3 GYS2 NM_021957.4(GYS2): c.2005G> A (p.Asp669Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs142656537 GRCh37 Chromosome 12, 21689995: 21689995
4 GYS2 NM_021957.4(GYS2): c.2005G> A (p.Asp669Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs142656537 GRCh38 Chromosome 12, 21537061: 21537061
5 GYS2 NM_021957.4(GYS2): c.1553A> C (p.Glu518Ala) single nucleotide variant Uncertain significance rs150433001 GRCh37 Chromosome 12, 21695522: 21695522
6 GYS2 NM_021957.4(GYS2): c.1553A> C (p.Glu518Ala) single nucleotide variant Uncertain significance rs150433001 GRCh38 Chromosome 12, 21542588: 21542588
7 GYS2 NM_021957.4(GYS2): c.736C> T (p.Arg246Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918419 GRCh37 Chromosome 12, 21721886: 21721886
8 GYS2 NM_021957.4(GYS2): c.736C> T (p.Arg246Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918419 GRCh38 Chromosome 12, 21568952: 21568952
9 GYS2 NM_021957.3(GYS2): c.941+1G> C single nucleotide variant Pathogenic rs587776831 GRCh37 Chromosome 12, 21716161: 21716161
10 GYS2 NM_021957.3(GYS2): c.941+1G> C single nucleotide variant Pathogenic rs587776831 GRCh38 Chromosome 12, 21563227: 21563227
11 GYS2 NM_021957.3(GYS2): c.1436C> A (p.Pro479Gln) single nucleotide variant Uncertain significance rs121918420 GRCh37 Chromosome 12, 21699391: 21699391
12 GYS2 NM_021957.3(GYS2): c.1436C> A (p.Pro479Gln) single nucleotide variant Uncertain significance rs121918420 GRCh38 Chromosome 12, 21546457: 21546457
13 GYS2 NM_021957.4(GYS2): c.1015G> C (p.Ala339Pro) single nucleotide variant Pathogenic rs121918421 GRCh37 Chromosome 12, 21715899: 21715899
14 GYS2 NM_021957.4(GYS2): c.1015G> C (p.Ala339Pro) single nucleotide variant Pathogenic rs121918421 GRCh38 Chromosome 12, 21562965: 21562965
15 GYS2 NM_021957.3(GYS2): c.1472T> G (p.Met491Arg) single nucleotide variant Pathogenic rs121918422 GRCh37 Chromosome 12, 21699355: 21699355
16 GYS2 NM_021957.3(GYS2): c.1472T> G (p.Met491Arg) single nucleotide variant Pathogenic rs121918422 GRCh38 Chromosome 12, 21546421: 21546421
17 GYS2 NM_021957.4(GYS2): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs121918423 GRCh37 Chromosome 12, 21757411: 21757411
18 GYS2 NM_021957.4(GYS2): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs121918423 GRCh38 Chromosome 12, 21604477: 21604477
19 GYS2 NM_021957.4(GYS2): c.1447T> C (p.Ser483Pro) single nucleotide variant Pathogenic rs121918424 GRCh37 Chromosome 12, 21699380: 21699380
20 GYS2 NM_021957.4(GYS2): c.1447T> C (p.Ser483Pro) single nucleotide variant Pathogenic rs121918424 GRCh38 Chromosome 12, 21546446: 21546446
21 GYS2 NM_021957.3(GYS2): c.1336C> G (p.His446Asp) single nucleotide variant Pathogenic rs121918425 GRCh37 Chromosome 12, 21711220: 21711220
22 GYS2 NM_021957.3(GYS2): c.1336C> G (p.His446Asp) single nucleotide variant Pathogenic rs121918425 GRCh38 Chromosome 12, 21558286: 21558286
23 GYS2 NM_021957.4(GYS2): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 21716178: 21716178
24 GYS2 NM_021957.4(GYS2): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 21563244: 21563244
25 GYS2 NM_021957.4(GYS2): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic NCBI36 Chromosome 12, 21607445: 21607445
26 GYS2 NM_021957.4(GYS2): c.421G> A (p.Gly141Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149533049 GRCh37 Chromosome 12, 21728874: 21728874
27 GYS2 NM_021957.4(GYS2): c.421G> A (p.Gly141Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149533049 GRCh38 Chromosome 12, 21575940: 21575940
28 GYS2 NM_021957.4(GYS2): c.1245C> G (p.Asp415Glu) single nucleotide variant Benign/Likely benign rs16924002 GRCh37 Chromosome 12, 21712088: 21712088
29 GYS2 NM_021957.4(GYS2): c.1245C> G (p.Asp415Glu) single nucleotide variant Benign/Likely benign rs16924002 GRCh38 Chromosome 12, 21559154: 21559154
30 GYS2 NM_021957.4(GYS2): c.1464A> G (p.Leu488=) single nucleotide variant Benign/Likely benign rs35403985 GRCh37 Chromosome 12, 21699363: 21699363
31 GYS2 NM_021957.4(GYS2): c.1464A> G (p.Leu488=) single nucleotide variant Benign/Likely benign rs35403985 GRCh38 Chromosome 12, 21546429: 21546429
32 GYS2 NM_021957.3(GYS2): c.1636A> G (p.Thr546Ala) single nucleotide variant Benign/Likely benign rs61733199 GRCh37 Chromosome 12, 21695439: 21695439
33 GYS2 NM_021957.3(GYS2): c.1636A> G (p.Thr546Ala) single nucleotide variant Benign/Likely benign rs61733199 GRCh38 Chromosome 12, 21542505: 21542505
34 GYS2 NM_021957.3(GYS2): c.1872A> G (p.Glu624=) single nucleotide variant Conflicting interpretations of pathogenicity rs142883971 GRCh37 Chromosome 12, 21692210: 21692210
35 GYS2 NM_021957.3(GYS2): c.1872A> G (p.Glu624=) single nucleotide variant Conflicting interpretations of pathogenicity rs142883971 GRCh38 Chromosome 12, 21539276: 21539276
36 GYS2 NM_021957.3(GYS2): c.1965G> C (p.Gln655His) single nucleotide variant Conflicting interpretations of pathogenicity rs117639846 GRCh37 Chromosome 12, 21690035: 21690035
37 GYS2 NM_021957.3(GYS2): c.1965G> C (p.Gln655His) single nucleotide variant Conflicting interpretations of pathogenicity rs117639846 GRCh38 Chromosome 12, 21537101: 21537101
38 GYS2 NM_021957.4(GYS2): c.2054T> C (p.Phe685Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs117474773 GRCh37 Chromosome 12, 21689946: 21689946
39 GYS2 NM_021957.4(GYS2): c.2054T> C (p.Phe685Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs117474773 GRCh38 Chromosome 12, 21537012: 21537012
40 GYS2 NM_021957.4(GYS2): c.2067C> T (p.His689=) single nucleotide variant Benign/Likely benign rs7954038 GRCh37 Chromosome 12, 21689933: 21689933
41 GYS2 NM_021957.4(GYS2): c.2067C> T (p.His689=) single nucleotide variant Benign/Likely benign rs7954038 GRCh38 Chromosome 12, 21536999: 21536999
42 GYS2 NM_021957.3(GYS2): c.*6A> T single nucleotide variant Benign rs10431213 GRCh37 Chromosome 12, 21689882: 21689882
43 GYS2 NM_021957.3(GYS2): c.*6A> T single nucleotide variant Benign rs10431213 GRCh38 Chromosome 12, 21536948: 21536948
44 GYS2 NM_021957.4(GYS2): c.1251C> T (p.Asn417=) single nucleotide variant Conflicting interpretations of pathogenicity rs139882761 GRCh38 Chromosome 12, 21559148: 21559148
45 GYS2 NM_021957.4(GYS2): c.1251C> T (p.Asn417=) single nucleotide variant Conflicting interpretations of pathogenicity rs139882761 GRCh37 Chromosome 12, 21712082: 21712082
46 GYS2 NM_021957.4(GYS2): c.1169+12A> T single nucleotide variant Benign rs4639981 GRCh38 Chromosome 12, 21560374: 21560374
47 GYS2 NM_021957.4(GYS2): c.1169+12A> T single nucleotide variant Benign rs4639981 GRCh37 Chromosome 12, 21713308: 21713308
48 GYS2 NM_021957.3(GYS2): c.1087A> G (p.Met363Val) single nucleotide variant Benign rs2306180 GRCh37 Chromosome 12, 21713402: 21713402
49 GYS2 NM_021957.3(GYS2): c.1087A> G (p.Met363Val) single nucleotide variant Benign rs2306180 GRCh38 Chromosome 12, 21560468: 21560468
50 GYS2 NM_021957.3(GYS2): c.577G> A (p.Ala193Thr) single nucleotide variant Benign rs16924038 GRCh38 Chromosome 12, 21574245: 21574245

Expression for Glycogen Storage Disease 0, Liver

Search GEO for disease gene expression data for Glycogen Storage Disease 0, Liver.

Pathways for Glycogen Storage Disease 0, Liver

Pathways related to Glycogen Storage Disease 0, Liver according to KEGG:

38
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500
2 Insulin signaling pathway hsa04910

GO Terms for Glycogen Storage Disease 0, Liver

Sources for Glycogen Storage Disease 0, Liver

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
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37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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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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