MCID: GLY058
MIFTS: 30

Glycogen Storage Disease 0, Liver

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

Aliases & Classifications for Glycogen Storage Disease 0, Liver

MalaCards integrated aliases for Glycogen Storage Disease 0, Liver:

Name: Glycogen Storage Disease 0, Liver 57 73
Hypoglycemia with Deficiency of Glycogen Synthetase in the Liver 57 53 75 29 6
Liver Glycogen Synthase Deficiency 57 53 75 55
Liver Glycogen Storage Disease 0 57 53
Glycogen Storage Disease Type 0a 59 37
Glycogen Storage Disease Due to Hepatic Glycogen Synthase Deficiency 59
Glycogen Storage Disease Due to Liver Glycogen Synthase Deficiency 59
Gsd Due to Hepatic Glycogen Synthase Deficiency 59
Glycogen Storage Disease, Type 0, Liver 40
Glycogen Storage Disease Type 0, Liver 53
Hepatic Glycogen Synthase Deficiency 53
Glycogen Storage Disease 0 75
Glycogenosis Type 0a 59
Liver Gsd 0 53
Gsd Type 0a 59
Gsd 0a 57
Gsd0a 57
Gsd0 75

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to hepatic glycogen synthase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glycogen storage disease 0, liver:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Glycogen Storage Disease 0, Liver

NIH Rare Diseases : 53 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 heart, and related phenotypes are irritability and ketosis

UniProtKB/Swiss-Prot : 75 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 12.7
2 glycogen storage disease type 0 10.2
3 hepatitis 9.9
4 glycogen storage disease 9.9
5 hypoglycemia 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
seizures

Lab:
glycogen synthetase deficiency

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


Clinical features from OMIM:

240600

Human phenotypes related to Glycogen Storage Disease 0, Liver:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
2 ketosis 59 32 frequent (33%) Frequent (79-30%) HP:0001946
3 ketonuria 59 32 frequent (33%) Frequent (79-30%) HP:0002919
4 glycosuria 59 32 frequent (33%) Frequent (79-30%) HP:0003076
5 postprandial hyperglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0011998
6 ketotic hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0012734
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
9 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
10 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
11 elevated hepatic transaminases 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
12 hyperlipidemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003077
13 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
14 abnormality of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0011024
15 neonatal hypoglycemia 32 HP:0001998
16 increased serum lactate 32 HP:0002151
17 fasting hypoglycemia 32 HP:0003162

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 29 GYS2

Anatomical Context for Glycogen Storage Disease 0, Liver

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

41
Liver, Heart

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:

75
# 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 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 GYS2 NM_021957.3(GYS2): c.736C> T (p.Arg246Ter) single nucleotide variant Likely pathogenic rs121918419 GRCh37 Chromosome 12, 21721886: 21721886
2 GYS2 NM_021957.3(GYS2): c.736C> T (p.Arg246Ter) single nucleotide variant Likely pathogenic rs121918419 GRCh38 Chromosome 12, 21568952: 21568952
3 GYS2 NM_021957.3(GYS2): c.941+1G> C single nucleotide variant Pathogenic rs587776831 GRCh37 Chromosome 12, 21716161: 21716161
4 GYS2 NM_021957.3(GYS2): c.941+1G> C single nucleotide variant Pathogenic rs587776831 GRCh38 Chromosome 12, 21563227: 21563227
5 GYS2 NM_021957.3(GYS2): c.1015G> C (p.Ala339Pro) single nucleotide variant Pathogenic rs121918421 GRCh37 Chromosome 12, 21715899: 21715899
6 GYS2 NM_021957.3(GYS2): c.1015G> C (p.Ala339Pro) single nucleotide variant Pathogenic rs121918421 GRCh38 Chromosome 12, 21562965: 21562965
7 GYS2 NM_021957.3(GYS2): c.1472T> G (p.Met491Arg) single nucleotide variant Pathogenic rs121918422 GRCh37 Chromosome 12, 21699355: 21699355
8 GYS2 NM_021957.3(GYS2): c.1472T> G (p.Met491Arg) single nucleotide variant Pathogenic rs121918422 GRCh38 Chromosome 12, 21546421: 21546421
9 GYS2 NM_021957.3(GYS2): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs121918423 GRCh37 Chromosome 12, 21757411: 21757411
10 GYS2 NM_021957.3(GYS2): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs121918423 GRCh38 Chromosome 12, 21604477: 21604477
11 GYS2 NM_021957.3(GYS2): c.1447T> C (p.Ser483Pro) single nucleotide variant Pathogenic rs121918424 GRCh37 Chromosome 12, 21699380: 21699380
12 GYS2 NM_021957.3(GYS2): c.1447T> C (p.Ser483Pro) single nucleotide variant Pathogenic rs121918424 GRCh38 Chromosome 12, 21546446: 21546446
13 GYS2 NM_021957.3(GYS2): c.1336C> G (p.His446Asp) single nucleotide variant Pathogenic rs121918425 GRCh37 Chromosome 12, 21711220: 21711220
14 GYS2 NM_021957.3(GYS2): c.1336C> G (p.His446Asp) single nucleotide variant Pathogenic rs121918425 GRCh38 Chromosome 12, 21558286: 21558286
15 GYS2 NM_021957.3(GYS2): c.1229+11G> A single nucleotide variant Benign rs1871137 GRCh37 Chromosome 12, 21712574: 21712574
16 GYS2 NM_021957.3(GYS2): c.1229+11G> A single nucleotide variant Benign rs1871137 GRCh38 Chromosome 12, 21559640: 21559640
17 GYS2 NM_021957.3(GYS2): c.2005G> A (p.Asp669Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs142656537 GRCh37 Chromosome 12, 21689995: 21689995
18 GYS2 NM_021957.3(GYS2): c.2005G> A (p.Asp669Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs142656537 GRCh38 Chromosome 12, 21537061: 21537061
19 GYS2 NM_021957.3(GYS2): c.1553A> C (p.Glu518Ala) single nucleotide variant Uncertain significance rs150433001 GRCh37 Chromosome 12, 21695522: 21695522
20 GYS2 NM_021957.3(GYS2): c.1553A> C (p.Glu518Ala) single nucleotide variant Uncertain significance rs150433001 GRCh38 Chromosome 12, 21542588: 21542588
21 GYS2 NM_021957.3(GYS2): c.*6A> T single nucleotide variant Benign rs10431213 GRCh37 Chromosome 12, 21689882: 21689882
22 GYS2 NM_021957.3(GYS2): c.*6A> T single nucleotide variant Benign rs10431213 GRCh38 Chromosome 12, 21536948: 21536948
23 GYS2 NM_021957.3(GYS2): c.1251C> T (p.Asn417=) single nucleotide variant Uncertain significance rs139882761 GRCh38 Chromosome 12, 21559148: 21559148
24 GYS2 NM_021957.3(GYS2): c.1251C> T (p.Asn417=) single nucleotide variant Uncertain significance rs139882761 GRCh37 Chromosome 12, 21712082: 21712082
25 GYS2 NM_021957.3(GYS2): c.1169+12A> T single nucleotide variant Benign rs4639981 GRCh38 Chromosome 12, 21560374: 21560374
26 GYS2 NM_021957.3(GYS2): c.1169+12A> T single nucleotide variant Benign rs4639981 GRCh37 Chromosome 12, 21713308: 21713308
27 GYS2 NM_021957.3(GYS2): c.1087A> G (p.Met363Val) single nucleotide variant Benign rs2306180 GRCh37 Chromosome 12, 21713402: 21713402
28 GYS2 NM_021957.3(GYS2): c.1087A> G (p.Met363Val) single nucleotide variant Benign rs2306180 GRCh38 Chromosome 12, 21560468: 21560468
29 GYS2 NM_021957.3(GYS2): c.577G> A (p.Ala193Thr) single nucleotide variant Benign rs16924038 GRCh38 Chromosome 12, 21574245: 21574245
30 GYS2 NM_021957.3(GYS2): c.577G> A (p.Ala193Thr) single nucleotide variant Benign rs16924038 GRCh37 Chromosome 12, 21727179: 21727179
31 GYS2 NM_021957.3(GYS2): c.*520A> G single nucleotide variant Uncertain significance rs886049153 GRCh38 Chromosome 12, 21536434: 21536434
32 GYS2 NM_021957.3(GYS2): c.*520A> G single nucleotide variant Uncertain significance rs886049153 GRCh37 Chromosome 12, 21689368: 21689368
33 GYS2 NM_021957.3(GYS2): c.*259T> A single nucleotide variant Uncertain significance rs140445396 GRCh38 Chromosome 12, 21536695: 21536695
34 GYS2 NM_021957.3(GYS2): c.*259T> A single nucleotide variant Uncertain significance rs140445396 GRCh37 Chromosome 12, 21689629: 21689629
35 GYS2 NM_021957.3(GYS2): c.*152C> T single nucleotide variant Benign rs936 GRCh38 Chromosome 12, 21536802: 21536802
36 GYS2 NM_021957.3(GYS2): c.*152C> T single nucleotide variant Benign rs936 GRCh37 Chromosome 12, 21689736: 21689736
37 GYS2 NM_021957.3(GYS2): c.2055T> C (p.Phe685=) single nucleotide variant Uncertain significance rs201063818 GRCh38 Chromosome 12, 21537011: 21537011
38 GYS2 NM_021957.3(GYS2): c.2055T> C (p.Phe685=) single nucleotide variant Uncertain significance rs201063818 GRCh37 Chromosome 12, 21689945: 21689945
39 GYS2 NM_021957.3(GYS2): c.1790A> G (p.Asp597Gly) single nucleotide variant Uncertain significance rs767441371 GRCh38 Chromosome 12, 21540429: 21540429
40 GYS2 NM_021957.3(GYS2): c.1790A> G (p.Asp597Gly) single nucleotide variant Uncertain significance rs767441371 GRCh37 Chromosome 12, 21693363: 21693363
41 GYS2 NM_021957.3(GYS2): c.1389T> C (p.Ile463=) single nucleotide variant Likely benign rs146434233 GRCh38 Chromosome 12, 21558233: 21558233
42 GYS2 NM_021957.3(GYS2): c.1389T> C (p.Ile463=) single nucleotide variant Likely benign rs146434233 GRCh37 Chromosome 12, 21711167: 21711167
43 GYS2 NM_021957.3(GYS2): c.756T> C (p.Ala252=) single nucleotide variant Uncertain significance rs886049159 GRCh38 Chromosome 12, 21568932: 21568932
44 GYS2 NM_021957.3(GYS2): c.756T> C (p.Ala252=) single nucleotide variant Uncertain significance rs886049159 GRCh37 Chromosome 12, 21721866: 21721866
45 GYS2 NM_021957.3(GYS2): c.534A> G (p.Gln178=) single nucleotide variant Uncertain significance rs750100480 GRCh37 Chromosome 12, 21727222: 21727222
46 GYS2 NM_021957.3(GYS2): c.534A> G (p.Gln178=) single nucleotide variant Uncertain significance rs750100480 GRCh38 Chromosome 12, 21574288: 21574288
47 GYS2 NM_021957.3(GYS2): c.525C> T (p.Val175=) single nucleotide variant Uncertain significance rs77486019 GRCh37 Chromosome 12, 21727231: 21727231
48 GYS2 NM_021957.3(GYS2): c.525C> T (p.Val175=) single nucleotide variant Uncertain significance rs77486019 GRCh38 Chromosome 12, 21574297: 21574297
49 GYS2 NM_021957.3(GYS2): c.289A> G (p.Lys97Glu) single nucleotide variant Uncertain significance rs886049161 GRCh37 Chromosome 12, 21733290: 21733290
50 GYS2 NM_021957.3(GYS2): c.289A> G (p.Lys97Glu) single nucleotide variant Uncertain significance rs886049161 GRCh38 Chromosome 12, 21580356: 21580356

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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