GSD6
MCID: GLY005
MIFTS: 58

Glycogen Storage Disease Vi (GSD6)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Glycogen Storage Disease Vi

MalaCards integrated aliases for Glycogen Storage Disease Vi:

Name: Glycogen Storage Disease Vi 57 12 72 13 15
Glycogen Storage Disease Type Vi 12 73 25 43 58 36 54 44 70
Hers Disease 57 20 43 58 72
Gsd6 57 20 43 72
Hepatic Glycogen Phosphorylase Deficiency 12 43 58
Gsd Vi 57 25 43
Phosphorylase Deficiency Glycogen-Storage Disease of Liver 57 20
Glycogen Storage Disease, Type Vi 29 6
Glycogen Storage Disease Type 6 20 58
Glycogen Storage Disease 6 20 72
Hers' Disease 12 73
Gsd Type Vi 43 58
Glycogen Storage Disease Due to Liver Glycogen Phosphorylase Deficiency 58
Glycogenosis Due to Liver Glycogen Phosphorylase Deficiency 58
Gsd Due to Liver Glycogen Phosphorylase Deficiency 58
Hepatophosphorylase Deficiency Glycogenosis 12
Liver Phosphorylase Deficiency Syndrome 43
Liver Glycogen Phosphorylase Deficiency 58
Storage Disease, Glycogen, Type Vi 39
Hepatic Phosphorylase Deficiency 58
Liver Phosphorylase Deficiency 72
Glycogen Storage Disease Vib 72
Glycogenosis Type Vi 58
Glycogenosis Type 6 58
Gsd Type 6 58
Gsd-Vi 72
Her 73

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to liver glycogen phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
presentation in early childhood
hepatomegaly improves with age and disappears around puberty


HPO:

31
glycogen storage disease vi:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Glycogen Storage Disease Vi

GARD : 20 Glycogen storage disease type 6 (GSD6) is a genetic disease in which the liver cannot process sugar properly. The liver is responsible for breaking down a substance called glycogen. Glycogen is the stored form of sugar that is made by breaking down carbohydrates. When the liver cannot break down glycogen properly it causes a buildup that is damaging to the body. Symptoms of the disease usually begin in infancy or childhood and include low blood sugar ( hypoglycemia ), an enlarged liver ( hepatomegaly ), and an increase in the amount of lactic acid in the blood ( lactic acidosis ). These symptoms are especially likely to occur when an individual does not eat for a long time. Symptoms tend to improve as people with this disease get older. The disease is especially common in the Mennonite population. GSD6 is caused by mutations (changes) in the PYGL gene. The disease is inherited in an autosomal recessive manner. The diagnosis is made based on genetic testing of the PYGL gene. A liver biopsy that tests the function of liver glycogen phosphorylase may be necessary if the results of the genetic testing are inconclusive. Treatment may include eating frequent meals that are high in carbohydrates.

MalaCards based summary : Glycogen Storage Disease Vi, also known as glycogen storage disease type vi, is related to glycogen storage disease ix and glycogen storage disease ixb. An important gene associated with Glycogen Storage Disease Vi is PYGL (Glycogen Phosphorylase L), and among its related pathways/superpathways are Starch and sucrose metabolism and Insulin signaling pathway. The drugs Docetaxel and Capecitabine have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and kidney, and related phenotypes are hepatomegaly and increased hepatic glycogen content

Disease Ontology : 12 A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.

MedlinePlus Genetics : 43 Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.The signs and symptoms of GSDVI typically begin in infancy to early childhood. The first sign is usually an enlarged liver (hepatomegaly). During prolonged periods without food (fasting), affected individuals may have low blood sugar (hypoglycemia) or elevated levels of ketones in the blood (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars are unavailable. Children with GSDVI tend to grow slower than their peers, but they often achieve normal height as adults. Some affected children also have mild delays in the development of motor skills, such as sitting, standing, or walking.The signs and symptoms of GSDVI tend to improve with age; most adults with this condition do not have any related health problems.

KEGG : 36 Glycogen storage disease type VI (GSD-VI), also known as Hers disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VI is caused by mutations in the PYGL gene, which encodes liver glycogen phosphorylase. It manifests in infants, primarily with hepatomegaly and growth retardation.

UniProtKB/Swiss-Prot : 72 Glycogen storage disease 6: A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected.

Wikipedia : 73 Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency... more...

More information from OMIM: 232700
GeneReviews: NBK5941

Related Diseases for Glycogen Storage Disease Vi

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

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

(show top 50) (show all 1194)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ix 31.9 PYGL GYS2
2 glycogen storage disease ixb 30.1 PYGL AGL
3 hypoglycemia 29.8 PYGL GYS2 GYS1 G6PC1 AGL
4 glycogen storage disease v 29.1 PYGM PYGL GYS1 GBE1 AGL
5 hyperglycemia 28.9 GYS2 GYS1 G6PC1
6 myopathy 28.4 PYGM GYS1 GYG1 GBE1 AGL
7 glycogen storage disease 27.6 PYGM PYGL GYS2 GYS1 GYG2 GYG1
8 glycogen storage disease viii 11.3
9 ichthyosis, lamellar, autosomal dominant 11.0
10 zika fever 11.0
11 fabry disease 10.9
12 laryngomalacia 10.9
13 ocular motor apraxia 10.9
14 valproate embryopathy 10.9
15 chromosome 20p deletion 10.9
16 pancreatic cancer 10.9
17 cholangiocarcinoma 10.8
18 neuroblastoma 10.8
19 gigantism 10.8
20 sudden infant death syndrome 10.8
21 body dysmorphic disorder 10.8
22 porencephaly 10.8
23 human cytomegalovirus infection 10.8
24 ovarian disease 10.8
25 abdominal wall defect 10.8
26 persistent vegetative state 10.8
27 machado-joseph disease 10.8
28 blepharoptosis, myopia, and ectopia lentis 10.8
29 hypertrichosis, congenital generalized, with or without gingival hyperplasia 10.8
30 glaucoma and sleep apnea 10.8
31 lymphedema and cerebral arteriovenous anomaly 10.8
32 microcephaly-deafness syndrome 10.8
33 spinocerebellar ataxia 7 10.8
34 otodental dysplasia 10.8
35 ptosis, strabismus, and ectopic pupils 10.8
36 triphalangeal thumbs and dislocation of patella 10.8
37 aphalangy with hemivertebrae 10.8
38 n-acetylglutamate synthase deficiency 10.8
39 batten-turner congenital myopathy 10.8
40 hyperoxaluria, primary, type i 10.8
41 wrinkly skin syndrome 10.8
42 body mass index quantitative trait locus 11 10.8
43 lesch-nyhan syndrome 10.8
44 phosphoribosylpyrophosphate synthetase superactivity 10.8
45 spinal and bulbar muscular atrophy, x-linked 1 10.8
46 heart defects, congenital, and other congenital anomalies 10.8
47 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.8
48 hypercholesterolemia, familial, 3 10.8
49 aceruloplasminemia 10.8
50 preeclampsia/eclampsia 4 10.8

Graphical network of the top 20 diseases related to Glycogen Storage Disease Vi:



Diseases related to Glycogen Storage Disease Vi

Symptoms & Phenotypes for Glycogen Storage Disease Vi

Human phenotypes related to Glycogen Storage Disease Vi:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 very rare (1%) Very frequent (99-80%) HP:0002240
2 increased hepatic glycogen content 58 31 very rare (1%) Very frequent (99-80%) HP:0006568
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
5 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
6 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
7 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
8 elevated hepatic transaminase 58 31 very rare (1%) Frequent (79-30%) HP:0002910
9 ketosis 58 31 frequent (33%) Frequent (79-30%) HP:0001946
10 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
11 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
12 hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001395
13 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
14 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
15 hyperlipidemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003077
16 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
17 exercise-induced muscle cramps 58 31 occasional (7.5%) Occasional (29-5%) HP:0003710
18 portal fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006580
19 intermittent lactic acidemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004913
20 postexertional malaise 58 31 occasional (7.5%) Occasional (29-5%) HP:0030973
21 hypotonia 31 occasional (7.5%) HP:0001252
22 proteinuria 58 31 very rare (1%) Very rare (<4-1%) HP:0000093
23 cirrhosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001394
24 hypertrophic cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001639
25 abnormality of the kidney 58 31 very rare (1%) Very rare (<4-1%) HP:0000077
26 hepatocellular carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0001402
27 postprandial hyperlactemia 58 31 very rare (1%) Very rare (<4-1%) HP:0011997
28 muscular hypotonia 58 Occasional (29-5%)
29 hypertriglyceridemia 31 HP:0002155
30 growth delay 58 Frequent (79-30%)
31 postnatal growth retardation 31 HP:0008897
32 failure to thrive in infancy 31 HP:0001531
33 hypercholesterolemia 31 HP:0003124

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatomegaly
increased liver glycogen content

Laboratory Abnormalities:
no hyperuricemia
hepatic phosphorylase deficiency
variable hyperlipidemia
variable hypoglycemia
no lactic acidosis

Metabolic Features:
hypoglycemia

Growth Height:
growth retardation as children
final adult height normal

Clinical features from OMIM®:

232700 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Glycogen Storage Disease Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.43 AGL G6PC1 GBE1 GYS1 GYS2 PYGL
2 muscle MP:0005369 9.1 AGL GBE1 GYG1 GYS1 GYS2 PYGM

Drugs & Therapeutics for Glycogen Storage Disease Vi

Drugs for Glycogen Storage Disease Vi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
2
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
3 Tubulin Modulators Phase 2
4 Antimitotic Agents Phase 2
5 Antimetabolites Phase 2
6
Anastrozole Approved, Investigational 120511-73-1 2187
7 insulin
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors
9 Insulin, Globin Zinc
10 Hormone Antagonists
11 Hormones
12 Antineoplastic Agents, Hormonal
13 Estrogens
14 Estrogen Receptor Antagonists
15 Aromatase Inhibitors
16 Estrogen Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 WebSMART: Efficacy of Web-based Pain Self-management for Adolescents With Juvenile Idiopathic Arthritis Completed NCT01541917 Phase 3
2 A Phase II Trial Evaluating Weekly Docetaxel and Capecitabine in Patients With Metastatic or Advanced, Locally, Recurrent Head and Neck Cancer Completed NCT00148122 Phase 2 Docetaxel;Capecitabine
3 A Randomized Trial of an Intensive Education Intervention Using a Network of Involved Diabetic Patients (Peer Educators) to Improve Glycemic Control of Type 2 Diabetic Patients Completed NCT01485913
4 Efficacy of a Disease Management Program in Very Old Patients With Heart Failure and Significant Comorbidity: a Multicenter Randomized Trial Completed NCT01076465
5 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162
6 A Randomised in Practice Evaluation of the Influence of Patient's Understanding of Her Disease and Therapy on Persistence and Compliance to Adjuvant Therapy for Post-menopausal Hormone Sensitive Early Breast Cancer Terminated NCT00555867 Anastrozole

Search NIH Clinical Center for Glycogen Storage Disease Vi

Cochrane evidence based reviews: glycogen storage disease type vi

Genetic Tests for Glycogen Storage Disease Vi

Genetic tests related to Glycogen Storage Disease Vi:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Vi 29 PYGL

Anatomical Context for Glycogen Storage Disease Vi

MalaCards organs/tissues related to Glycogen Storage Disease Vi:

40
Liver, Skeletal Muscle, Kidney

Publications for Glycogen Storage Disease Vi

Articles related to Glycogen Storage Disease Vi:

(show all 31)
# Title Authors PMID Year
1
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. 20 25 57 6
25266922 2014
2
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. 61 54 25 6 57
9536091 1998
3
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. 61 25 6 57
9529348 1998
4
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). 25 57
30659246 2019
5
[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses]. 57 25
13646331 1959
6
Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI. 61 25
31701076 2019
7
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 6
22899091 2013
8
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. 6
21646031 2011
9
High frequency of missense mutations in glycogen storage disease type VI. 61 25
17705025 2007
10
A glycogen storage disease (gsd/gsd) rat: studies on lipid metabolism, lipogenesis, plasma metabolites, and bile acid secretion. 57
6929400 1980
11
Hepatic phosphorylase defect. Studies on peripheral blood. 57
5904467 1966
12
Low leukocyte phosphorylase in hepatic phosphorylase-deficient glycogen storage disease. 57
14007166 1961
13
Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy. 25
28612263 2017
14
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
15
Glycogen storage disease type Ia and VI associated with hepatocellular carcinoma: two case reports. 25
21620082 2011
16
Regional localization of loci on chromosome 14 using somatic cell hybrids. 54 61
8275705 1994
17
Glycogen metabolism. 25
13834511 1960
18
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families. 61
33809020 2021
19
A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI. 61
32961316 2020
20
Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review. 61
32892177 2020
21
Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports. 61
32268899 2020
22
Glycogen storage disease type VI: clinical course and molecular background. 61
31768638 2020
23
Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome. 61
33505429 2020
24
Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene. 61
28984260 2017
25
Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia. 61
20723115 2010
26
Glycogen Storage Disease Type VI 61
20301760 2009
27
Effect of clonidine on the height of a child with glycogen storage disease type VI: a 13 year follow-up study. 61
8942015 1996
28
[Hepatic glycogenosis in childhood: clinical and laboratory findings in 20 patients]. 54
8728790 1995
29
Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI. 61
3148066 1988
30
The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. 61
2883891 1987
31
Quantitation of a urinary tetrasaccharide by gas chromatography and mass spectrometry. 61
817751 1976

Variations for Glycogen Storage Disease Vi

ClinVar genetic disease variations for Glycogen Storage Disease Vi:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PYGL NM_002863.5(PYGL):c.1366G>A (p.Val456Met) SNV Pathogenic 21328 rs113993979 GRCh37: 14:51382091-51382091
GRCh38: 14:50915373-50915373
2 PYGL NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) SNV Pathogenic 21329 rs113993980 GRCh37: 14:51381466-51381466
GRCh38: 14:50914748-50914748
3 PYGL NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile) SNV Pathogenic 21330 rs113993983 GRCh37: 14:51378522-51378522
GRCh38: 14:50911804-50911804
4 PYGL NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr) SNV Pathogenic 21333 rs113993985 GRCh37: 14:51376767-51376767
GRCh38: 14:50910049-50910049
5 PYGL NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) SNV Pathogenic 21334 rs113993986 GRCh37: 14:51376766-51376766
GRCh38: 14:50910048-50910048
6 PYGL NM_002863.5(PYGL):c.2461T>C (p.Tyr821His) SNV Pathogenic 21336 rs113993988 GRCh37: 14:51372193-51372193
GRCh38: 14:50905475-50905475
7 PYGL NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) SNV Pathogenic 21337 rs113993973 GRCh37: 14:51404519-51404519
GRCh38: 14:50937801-50937801
8 PYGL NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) SNV Pathogenic 38367 rs113993976 GRCh37: 14:51383436-51383436
GRCh38: 14:50916718-50916718
9 PYGL NM_002863.5(PYGL):c.529-1G>C SNV Pathogenic 11993 rs113993974 GRCh37: 14:51390819-51390819
GRCh38: 14:50924101-50924101
10 PYGL NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) SNV Pathogenic 11995 rs113993977 GRCh37: 14:51382651-51382651
GRCh38: 14:50915933-50915933
11 PYGL NM_002863.5(PYGL):c.298_307del (p.Met100fs) Deletion Pathogenic 548489 rs1555328280 GRCh37: 14:51404492-51404501
GRCh38: 14:50937774-50937783
12 PYGL NC_000014.9:g.(?_50909875)_(50912323_?)del Deletion Pathogenic 831481 GRCh37: 14:51376593-51379041
GRCh38:
13 PYGL NM_002863.5(PYGL):c.1620+1G>T SNV Pathogenic 849156 GRCh37: 14:51379746-51379746
GRCh38: 14:50913028-50913028
14 PYGL NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter) Indel Pathogenic 827812 rs1596047883 GRCh37: 14:51398409-51398411
GRCh38: 14:50931691-50931693
15 PYGL NM_002863.5(PYGL):c.911_914dup (p.Leu305fs) Duplication Pathogenic 844532 GRCh37: 14:51383764-51383765
GRCh38: 14:50917046-50917047
16 PYGL NM_002863.5(PYGL):c.25_44dup (p.Ser15fs) Duplication Pathogenic 189242 rs786204785 GRCh37: 14:51411077-51411078
GRCh38: 14:50944359-50944360
17 PYGL NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) SNV Pathogenic 21338 rs113993972 GRCh37: 14:51411084-51411084
GRCh38: 14:50944366-50944366
18 PYGL NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter) SNV Pathogenic 21327 rs113993978 GRCh37: 14:51382587-51382587
GRCh38: 14:50915869-50915869
19 PYGL NM_002863.5(PYGL):c.1620+1G>C SNV Pathogenic 998110 GRCh37: 14:51379746-51379746
GRCh38: 14:50913028-50913028
20 PYGL NM_002863.5(PYGL):c.72C>A (p.Asn24Lys) SNV Pathogenic 998111 GRCh37: 14:51411050-51411050
GRCh38: 14:50944332-50944332
21 PYGL NM_002863.5(PYGL):c.33dup (p.Arg12fs) Duplication Pathogenic 998112 GRCh37: 14:51411088-51411089
GRCh38: 14:50944370-50944371
22 PYGL NM_002863.5(PYGL):c.1768+1G>A SNV Pathogenic 11992 rs113993982 GRCh37: 14:51378873-51378873
GRCh38: 14:50912155-50912155
23 PYGL NM_002863.5(PYGL):c.1969+1_1969+4del Deletion Pathogenic 38368 rs1555326546 GRCh37: 14:51378444-51378447
GRCh38: 14:50911726-50911729
24 PYGL NM_002863.5(PYGL):c.528+2T>C SNV Pathogenic 1029651 GRCh37: 14:51398389-51398389
GRCh38: 14:50931671-50931671
25 PYGL NM_002863.5(PYGL):c.2177+2T>C SNV Likely pathogenic 932090 GRCh37: 14:51376611-51376611
GRCh38: 14:50909893-50909893
26 PYGL NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) SNV Likely pathogenic 803027 rs150483902 GRCh37: 14:51410946-51410946
GRCh38: 14:50944228-50944228
27 PYGL NM_002863.5(PYGL):c.772+1G>A SNV Likely pathogenic 643804 rs776545903 GRCh37: 14:51387673-51387673
GRCh38: 14:50920955-50920955
28 PYGL NM_002863.5(PYGL):c.772+2_772+3del Microsatellite Likely pathogenic 645342 rs765425704 GRCh37: 14:51387671-51387672
GRCh38: 14:50920953-50920954
29 PYGL NM_002863.5(PYGL):c.1620+1G>A SNV Likely pathogenic 11996 rs113993981 GRCh37: 14:51379746-51379746
GRCh38: 14:50913028-50913028
30 PYGL NM_002863.5(PYGL):c.603G>T (p.Val201=) SNV Conflicting interpretations of pathogenicity 313332 rs138364932 GRCh37: 14:51390744-51390744
GRCh38: 14:50924026-50924026
31 PYGL NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) SNV Conflicting interpretations of pathogenicity 632215 rs756205397 GRCh37: 14:51372187-51372187
GRCh38: 14:50905469-50905469
32 PYGL NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) SNV Conflicting interpretations of pathogenicity 632216 rs149096315 GRCh37: 14:51378913-51378913
GRCh38: 14:50912195-50912195
33 PYGL NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) SNV Conflicting interpretations of pathogenicity 522775 rs143759519 GRCh37: 14:51382637-51382637
GRCh38: 14:50915919-50915919
34 PYGL NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) SNV Conflicting interpretations of pathogenicity 499130 rs749922511 GRCh37: 14:51387749-51387749
GRCh38: 14:50921031-50921031
35 PYGL NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg) SNV Uncertain significance 1029650 GRCh37: 14:51376707-51376707
GRCh38: 14:50909989-50909989
36 PYGL NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) SNV Uncertain significance 575514 rs138461745 GRCh37: 14:51379785-51379785
GRCh38: 14:50913067-50913067
37 PYGL NM_002863.5(PYGL):c.749C>T (p.Pro250Leu) SNV Uncertain significance 1029652 GRCh37: 14:51387697-51387697
GRCh38: 14:50920979-50920979
38 PYGL NM_002863.5(PYGL):c.298A>G (p.Met100Val) SNV Uncertain significance 1033544 GRCh37: 14:51404501-51404501
GRCh38: 14:50937783-50937783
39 PYGL NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile) SNV Uncertain significance 1038832 GRCh37: 14:51372114-51372114
GRCh38: 14:50905396-50905396
40 PYGL NM_002863.5(PYGL):c.1748A>G (p.His583Arg) SNV Uncertain significance 1040590 GRCh37: 14:51378894-51378894
GRCh38: 14:50912176-50912176
41 PYGL NM_002863.5(PYGL):c.1828-9T>A SNV Uncertain significance 573678 rs372338710 GRCh37: 14:51378598-51378598
GRCh38: 14:50911880-50911880
42 PYGL NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) SNV Uncertain significance 653702 rs760187622 GRCh37: 14:51372228-51372228
GRCh38: 14:50905510-50905510
43 PYGL NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr) SNV Uncertain significance 958745 GRCh37: 14:51378586-51378586
GRCh38: 14:50911868-50911868
44 PYGL NM_002863.5(PYGL):c.1900G>C (p.Asp634His) SNV Uncertain significance 21331 rs35026927 GRCh37: 14:51378517-51378517
GRCh38: 14:50911799-50911799
45 PYGL NM_002863.5(PYGL):c.2056G>C (p.Gly686Arg) SNV Uncertain significance 998113 GRCh37: 14:51376734-51376734
GRCh38: 14:50910016-50910016
46 PYGL NM_002863.5(PYGL):c.993G>A (p.Pro331=) SNV Uncertain significance 999360 GRCh37: 14:51383686-51383686
GRCh38: 14:50916968-50916968
47 PYGL NM_002863.5(PYGL):c.2062_2088del (p.Leu688_Ala696del) Deletion Uncertain significance 1007321 GRCh37: 14:51376702-51376728
GRCh38: 14:50909984-50910010
48 PYGL NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser) SNV Uncertain significance 841485 GRCh37: 14:51381483-51381483
GRCh38: 14:50914765-50914765
49 PYGL NM_002863.5(PYGL):c.772+5G>T SNV Uncertain significance 842004 GRCh37: 14:51387669-51387669
GRCh38: 14:50920951-50920951
50 PYGL NM_002863.5(PYGL):c.1274G>A (p.Arg425His) SNV Uncertain significance 258832 rs2228499 GRCh37: 14:51382183-51382183
GRCh38: 14:50915465-50915465

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Vi:

72
# Symbol AA change Variation ID SNP ID
1 PYGL p.Asn339Ser VAR_007908 rs113993976
2 PYGL p.Asn377Lys VAR_007909 rs113993977

Expression for Glycogen Storage Disease Vi

Search GEO for disease gene expression data for Glycogen Storage Disease Vi.

Pathways for Glycogen Storage Disease Vi

Pathways related to Glycogen Storage Disease Vi according to KEGG:

36
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500
2 Insulin signaling pathway hsa04910
3 Glucagon signaling pathway hsa04922

Pathways related to Glycogen Storage Disease Vi according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 PYGM PYGL GYS2 GYS1 GYG2 GYG1
2
Show member pathways
12.75 PYGM PYGL PPP1R3E PPP1R3D GYS2 GYS1
3
Show member pathways
12.73 PYGM PYGL GYS2 GYS1 GYG2 GYG1
4
Show member pathways
12.44 PYGM PYGL GYS2 GYS1 GYG2 GYG1
5
Show member pathways
12.29 GYS2 GYS1 GYG1 G6PC1
6
Show member pathways
12.16 GYS2 GYS1 G6PC1
7
Show member pathways
11.84 PYGM PYGL PPP1R3E PPP1R3D GYS2 GYS1
8 11.8 PYGM PYGL GYS2 GYS1 G6PC1
9
Show member pathways
11.73 GYS2 GYS1 GYG2 GYG1
10
Show member pathways
11.36 PYGM PYGL GYS2 GYS1 GYG2 GYG1
11
Show member pathways
11.18 GYS2 GYS1 GYG2 GYG1
12 11.11 PYGM PYGL GYS2 GYS1 GYG2 GYG1
13
Show member pathways
10.08 GYS1 GYG1

GO Terms for Glycogen Storage Disease Vi

Cellular components related to Glycogen Storage Disease Vi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 PYGM PYGL GYS2 GYS1 GYG2 GYG1
2 ficolin-1-rich granule lumen GO:1904813 9.33 PYGL GYG1 AGL
3 inclusion body GO:0016234 9.32 GYS1 AGL
4 protein phosphatase type 1 complex GO:0000164 9.26 PPP1R3E PPP1R3D
5 secretory granule lumen GO:0034774 9.13 PYGL GYG1 AGL
6 glycogen granule GO:0042587 8.62 PPP1R3E PPP1R3D

Biological processes related to Glycogen Storage Disease Vi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.73 PYGM PYGL PPP1R3E PPP1R3D GBE1 AGL
2 metabolic process GO:0008152 9.72 PYGM PYGL GYS2 GYS1 AGL
3 glycogen catabolic process GO:0005980 9.46 PYGM PYGL G6PC1 AGL
4 glycogen biosynthetic process GO:0005978 9.43 GYS2 GYS1 GYG2 GYG1 GBE1 AGL
5 generation of precursor metabolites and energy GO:0006091 9.4 GYS2 GBE1
6 regulation of glycogen biosynthetic process GO:0005979 9.37 PPP1R3E PPP1R3D
7 glycogen metabolic process GO:0005977 9.23 PYGM PYGL PPP1R3E PPP1R3D GYS1 GBE1

Molecular functions related to Glycogen Storage Disease Vi according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.76 PYGM PYGL GYS2 GYS1 GYG2 GYG1
2 carbohydrate binding GO:0030246 9.72 PYGL GBE1 AGL
3 pyridoxal phosphate binding GO:0030170 9.56 PYGM PYGL
4 protein phosphatase 1 binding GO:0008157 9.54 PPP1R3E PPP1R3D
5 glucose binding GO:0005536 9.52 PYGL GYS1
6 glycogen binding GO:2001069 9.51 PPP1R3E PPP1R3D
7 phosphorylase activity GO:0004645 9.49 PYGM PYGL
8 SHG alpha-glucan phosphorylase activity GO:0102499 9.48 PYGM PYGL
9 linear malto-oligosaccharide phosphorylase activity GO:0102250 9.46 PYGM PYGL
10 glycogen phosphorylase activity GO:0008184 9.43 PYGM PYGL
11 catalytic activity GO:0003824 9.43 PYGM PYGL GYS2 GYS1 GBE1 AGL
12 glycogen (starch) synthase activity GO:0004373 9.4 GYS2 GYS1
13 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity GO:0102751 9.37 GYG2 GYG1
14 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.32 GYS2 GYS1
15 glycogenin glucosyltransferase activity GO:0008466 9.26 GYG2 GYG1
16 transferase activity, transferring glycosyl groups GO:0016757 9.23 PYGM PYGL GYS2 GYS1 GYG2 GYG1

Sources for Glycogen Storage Disease Vi

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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