GSD0A
MCID: GLY058
MIFTS: 34

Glycogen Storage Disease 0, Liver (GSD0A)

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 57 70
Liver Glycogen Synthase Deficiency 57 20 72 54
Glycogen Storage Disease Due to Hepatic Glycogen Synthase Deficiency 58 29 6
Hypoglycemia with Deficiency of Glycogen Synthetase in the Liver 57 20 72
Liver Glycogen Storage Disease 0 57 20
Glycogen Storage Disease Type 0a 58 36
Glycogen Storage Disease Due to Liver Glycogen Synthase Deficiency 58
Gsd Due to Hepatic Glycogen Synthase Deficiency 58
Glycogen Storage Disease, Type 0, Liver 39
Glycogen Storage Disease Type 0, Liver 20
Hepatic Glycogen Synthase Deficiency 20
Glycogen Storage Disease 0 72
Glycogenosis Type 0a 58
Liver Gsd 0 20
Gsd Type 0a 58
Gsd 0a 57
Gsd0a 57
Gsd0 72

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to hepatic glycogen synthase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
glycogen storage disease 0, liver:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Glycogen Storage Disease 0, Liver

GARD : 20 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 liver glycogen synthase deficiency, 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 skin, and related phenotypes are irritability and ketonuria

KEGG : 36 Glycogen storage disease type 0a (GSD-0a), also known as liver glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS2 gene, which encodes liver glycogen synthase. In GSD-0a, the main clinical finding is intolerance to fasting accompanied by hypoglycemia.

UniProtKB/Swiss-Prot : 72 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.

More information 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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 0, muscle 11.9
2 glycogen storage disease type 0 10.4
3 hypoglycemia 10.3
4 fasting hypoglycemia 10.3
5 fatty liver disease, nonalcoholic 1 10.3
6 atrial standstill 1 10.1
7 cardiac arrest 10.1
8 hypertrophic cardiomyopathy 10.1
9 syncope 10.1
10 hyper-beta-alaninemia 10.1
11 non-alcoholic fatty liver disease 10.0
12 glycogen storage disease 10.0
13 hyperglycemia 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:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
2 ketonuria 58 31 frequent (33%) Frequent (79-30%) HP:0002919
3 glycosuria 58 31 frequent (33%) Frequent (79-30%) HP:0003076
4 postprandial hyperglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0011998
5 ketosis 58 31 frequent (33%) Frequent (79-30%) HP:0001946
6 ketotic hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0012734
7 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
8 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
9 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
10 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
11 hyperlipidemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003077
12 abnormality of the gastrointestinal tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0011024
13 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
14 seizure 31 occasional (7.5%) HP:0001250
15 seizures 58 Occasional (29-5%)
16 increased serum lactate 31 HP:0002151
17 neonatal hypoglycemia 31 HP:0001998
18 fasting hypoglycemia 31 HP:0003162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neuro:
seizures

Lab:
glycogen synthetase deficiency

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

Clinical features from OMIM®:

240600 (Updated 20-May-2021)

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 Glycogen Storage Disease Due to Hepatic Glycogen Synthase Deficiency 29 GYS2

Anatomical Context for Glycogen Storage Disease 0, Liver

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

40
Liver, Skin

Publications for Glycogen Storage Disease 0, Liver

Articles related to Glycogen Storage Disease 0, Liver:

(show all 18)
# Title Authors PMID Year
1
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. 57 6 54
9691087 1998
2
Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl. 6 57
141912 1977
3
The dietary treatment of hepatic glycogen synthetase deficiency. 57 6
106027 1977
4
Long-term follow-up of a new case of liver glycogen synthase deficiency. 57 54 61
12794686 2003
5
Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. 57 61 54
11483824 2001
6
Liver glycogen synthase deficiency: a rarely diagnosed entity. 54 61 57
8831078 1996
7
The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency. 6 61
28245189 2017
8
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. 6
25070466 2015
9
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. 6
20051115 2010
10
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. 6
12072888 2002
11
Glucose homeostasis in adulthood and in pregnancy in a patient with hepatic glycogen synthetase deficiency. 6
8534634 1995
12
Hepatic glycogen synthetase deficiency not expressed in cultured skin fibroblasts. 57
6406107 1983
13
Asymptomatic hepatic glycogen-synthetase deficiency. 57
87575 1978
14
Hepatic glycogen synthetase deficiency. Further studies on a family. 57
4505568 1972
15
Infantile Hypoglycaemia due to Inherited Deficiency of Glycogen Synthetase in Liver. 57
21032403 1963
16
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). 54 61
20331987 2010
17
Impaired glucose tolerance and predisposition to the fasted state in liver glycogen synthase knock-out mice. 61 54
20178984 2010
18
The variable clinical phenotype of liver glycogen synthase deficiency. 54 61
18341095 2007

Variations for Glycogen Storage Disease 0, Liver

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

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GYS2 NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) SNV Pathogenic 16049 rs121918419 GRCh37: 12:21721886-21721886
GRCh38: 12:21568952-21568952
2 GYS2 NM_021957.4(GYS2):c.941+1G>C SNV Pathogenic 16050 rs587776831 GRCh37: 12:21716161-21716161
GRCh38: 12:21563227-21563227
3 GYS2 NM_021957.4(GYS2):c.1336C>G (p.His446Asp) SNV Pathogenic 16056 rs121918425 GRCh37: 12:21711220-21711220
GRCh38: 12:21558286-21558286
4 GYS2 NM_021957.4(GYS2):c.1447T>C (p.Ser483Pro) SNV Pathogenic 16055 rs121918424 GRCh37: 12:21699380-21699380
GRCh38: 12:21546446-21546446
5 GYS2 NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) SNV Pathogenic 16054 rs121918423 GRCh37: 12:21757411-21757411
GRCh38: 12:21604477-21604477
6 GYS2 NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) SNV Pathogenic 16052 rs121918421 GRCh37: 12:21715899-21715899
GRCh38: 12:21562965-21562965
7 GYS2 NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) SNV Pathogenic 569452 rs146195866 GRCh37: 12:21713333-21713333
GRCh38: 12:21560399-21560399
8 GYS2 NM_021957.4(GYS2):c.122-8_141del Deletion Pathogenic 569698 rs746120293 GRCh37: 12:21733438-21733465
GRCh38: 12:21580504-21580531
9 GYS2 NM_021957.4(GYS2):c.925C>T (p.Arg309Ter) SNV Pathogenic 78954 rs267603422 GRCh37: 12:21716178-21716178
GRCh38: 12:21563244-21563244
10 GYS2 NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) SNV Pathogenic 214530 rs150382575 GRCh37: 12:21727182-21727182
GRCh38: 12:21574248-21574248
11 GYS2 NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) SNV Pathogenic 214529 rs201157731 GRCh37: 12:21727209-21727209
GRCh38: 12:21574275-21574275
12 GYS2 NM_021957.4(GYS2):c.495+1G>T SNV Pathogenic 665082 rs372079212 GRCh37: 12:21728799-21728799
GRCh38: 12:21575865-21575865
13 GYS2 NM_021957.4(GYS2):c.465del (p.Phe155fs) Deletion Pathogenic 937499 GRCh37: 12:21728830-21728830
GRCh38: 12:21575896-21575896
14 GYS2 NM_021957.4(GYS2):c.1212_1213del (p.Leu404_Tyr405insTer) Microsatellite Pathogenic 1028236 GRCh37: 12:21712601-21712602
GRCh38: 12:21559667-21559668
15 GYS2 NM_021957.4(GYS2):c.1062+1G>T SNV Likely pathogenic 566739 rs781511110 GRCh37: 12:21715851-21715851
GRCh38: 12:21562917-21562917
16 GYS2 NM_021957.4(GYS2):c.1229+1G>A SNV Likely pathogenic 580790 rs764539267 GRCh37: 12:21712584-21712584
GRCh38: 12:21559650-21559650
17 GYS2 NM_021957.4(GYS2):c.1230-1G>A SNV Likely pathogenic 402231 rs766733439 GRCh37: 12:21712104-21712104
GRCh38: 12:21559170-21559170
18 GYS2 NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) SNV Conflicting interpretations of pathogenicity 214533 rs150433001 GRCh37: 12:21695522-21695522
GRCh38: 12:21542588-21542588
19 GYS2 NM_021957.4(GYS2):c.755C>G (p.Ala252Gly) SNV Uncertain significance 308003 rs886049160 GRCh37: 12:21721867-21721867
GRCh38: 12:21568933-21568933
20 GYS2 NM_021957.4(GYS2):c.612C>A (p.Thr204=) SNV Uncertain significance 308006 rs758427436 GRCh37: 12:21727144-21727144
GRCh38: 12:21574210-21574210
21 GYS2 NM_021957.4(GYS2):c.630G>A (p.Gly210=) SNV Uncertain significance 308004 rs201503558 GRCh37: 12:21727126-21727126
GRCh38: 12:21574192-21574192
22 GYS2 NM_021957.4(GYS2):c.1251C>T (p.Asn417=) SNV Uncertain significance 261465 rs139882761 GRCh37: 12:21712082-21712082
GRCh38: 12:21559148-21559148
23 GYS2 NM_021957.4(GYS2):c.534A>G (p.Gln178=) SNV Uncertain significance 308007 rs750100480 GRCh37: 12:21727222-21727222
GRCh38: 12:21574288-21574288
24 GYS2 NM_021957.4(GYS2):c.289A>G (p.Lys97Glu) SNV Uncertain significance 308009 rs886049161 GRCh37: 12:21733290-21733290
GRCh38: 12:21580356-21580356
25 GYS2 NM_021957.4(GYS2):c.*567del Deletion Uncertain significance 307979 rs886049152 GRCh37: 12:21689321-21689321
GRCh38: 12:21536387-21536387
26 GYS2 NM_021957.4(GYS2):c.2004C>T (p.Tyr668=) SNV Uncertain significance 307987 rs571493564 GRCh37: 12:21689996-21689996
GRCh38: 12:21537062-21537062
27 GYS2 NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) SNV Uncertain significance 16051 rs121918420 GRCh37: 12:21699391-21699391
GRCh38: 12:21546457-21546457
28 GYS2 NM_021957.4(GYS2):c.1230-5T>G SNV Uncertain significance 307995 rs777032042 GRCh37: 12:21712108-21712108
GRCh38: 12:21559174-21559174
29 GYS2 NM_021957.4(GYS2):c.154G>A (p.Ala52Thr) SNV Uncertain significance 308011 rs886049162 GRCh37: 12:21733425-21733425
GRCh38: 12:21580491-21580491
30 GYS2 NM_021957.4(GYS2):c.948C>T (p.Leu316=) SNV Uncertain significance 307998 rs374841625 GRCh37: 12:21715966-21715966
GRCh38: 12:21563032-21563032
31 GYS2 NM_021957.4(GYS2):c.942-12G>A SNV Uncertain significance 308001 rs367916210 GRCh37: 12:21715984-21715984
GRCh38: 12:21563050-21563050
32 GYS2 NM_021957.4(GYS2):c.*735_*738TAAA[1] Microsatellite Uncertain significance 307976 rs886049151 GRCh37: 12:21689146-21689149
GRCh38: 12:21536212-21536215
33 GYS2 NM_021957.4(GYS2):c.1890+12A>G SNV Uncertain significance 307988 rs192853475 GRCh37: 12:21692180-21692180
GRCh38: 12:21539246-21539246
34 GYS2 NM_021957.4(GYS2):c.1790A>G (p.Asp597Gly) SNV Uncertain significance 307990 rs767441371 GRCh37: 12:21693363-21693363
GRCh38: 12:21540429-21540429
35 GYS2 NM_021957.4(GYS2):c.*359C>T SNV Uncertain significance 307982 rs542459418 GRCh37: 12:21689529-21689529
GRCh38: 12:21536595-21536595
36 GYS2 NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys) SNV Uncertain significance 534624 rs369069984 GRCh37: 12:21693408-21693408
GRCh38: 12:21540474-21540474
37 GYS2 NM_021957.4(GYS2):c.50A>G (p.Gln17Arg) SNV Uncertain significance 665936 rs376935348 GRCh37: 12:21757477-21757477
GRCh38: 12:21604543-21604543
38 GYS2 NM_021957.4(GYS2):c.1974dup (p.Val659fs) Duplication Uncertain significance 631679 rs1181756742 GRCh37: 12:21690025-21690026
GRCh38: 12:21537091-21537092
39 GYS2 NM_021957.4(GYS2):c.1423-1G>A SNV Uncertain significance 631680 rs202043849 GRCh37: 12:21699405-21699405
GRCh38: 12:21546471-21546471
40 GYS2 NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys) SNV Uncertain significance 648650 rs148617918 GRCh37: 12:21693481-21693481
GRCh38: 12:21540547-21540547
41 GYS2 NM_021957.4(GYS2):c.1774C>G (p.Leu592Val) SNV Uncertain significance 653240 rs202136674 GRCh37: 12:21693379-21693379
GRCh38: 12:21540445-21540445
42 GYS2 NM_021957.4(GYS2):c.1906T>C (p.Tyr636His) SNV Uncertain significance 658693 rs143798221 GRCh37: 12:21690094-21690094
GRCh38: 12:21537160-21537160
43 GYS2 NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) SNV Uncertain significance 16053 rs121918422 GRCh37: 12:21699355-21699355
GRCh38: 12:21546421-21546421
44 GYS2 NM_021957.4(GYS2):c.*631del Deletion Uncertain significance 307978 rs576845625 GRCh37: 12:21689257-21689257
GRCh38: 12:21536323-21536323
45 GYS2 NM_021957.4(GYS2):c.*237T>C SNV Uncertain significance 307984 rs886049154 GRCh37: 12:21689651-21689651
GRCh38: 12:21536717-21536717
46 GYS2 NM_021957.4(GYS2):c.1418T>G (p.Val473Gly) SNV Uncertain significance 307993 rs886049156 GRCh37: 12:21711138-21711138
GRCh38: 12:21558204-21558204
47 GYS2 NM_021957.4(GYS2):c.942-7del Deletion Uncertain significance 308000 rs537907545 GRCh37: 12:21715979-21715979
GRCh38: 12:21563045-21563045
48 GYS2 NM_021957.4(GYS2):c.1170-4A>G SNV Uncertain significance 307996 rs886049157 GRCh37: 12:21712648-21712648
GRCh38: 12:21559714-21559714
49 GYS2 NM_021957.4(GYS2):c.1820A>G (p.His607Arg) SNV Uncertain significance 307989 rs886049155 GRCh37: 12:21692262-21692262
GRCh38: 12:21539328-21539328
50 GYS2 NM_021957.4(GYS2):c.1713C>T (p.Leu571=) SNV Uncertain significance 307991 rs139122418 GRCh37: 12:21693440-21693440
GRCh38: 12:21540506-21540506

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

72
# 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

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:

36
# 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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