MCID: GLY005
MIFTS: 51

Glycogen Storage Disease Vi

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

Aliases & Classifications for Glycogen Storage Disease Vi

MalaCards integrated aliases for Glycogen Storage Disease Vi:

Name: Glycogen Storage Disease Vi 57 12 24 75 13 15
Glycogen Storage Disease Type Vi 12 76 24 25 59 37 55 44 73
Hers Disease 57 53 25 59 75
Gsd6 57 53 25 75
Hepatic Glycogen Phosphorylase Deficiency 12 25 59
Gsd Vi 57 24 25
Phosphorylase Deficiency Glycogen-Storage Disease of Liver 57 53
Glycogen Storage Disease, Type Vi 29 6
Glycogen Storage Disease Type 6 53 59
Glycogen Storage Disease 6 53 75
Hers' Disease 12 76
Gsd Type Vi 25 59
Glycogen Storage Disease Due to Liver Glycogen Phosphorylase Deficiency 59
Glycogenosis Due to Liver Glycogen Phosphorylase Deficiency 59
Gsd Due to Liver Glycogen Phosphorylase Deficiency 59
Hepatophosphorylase Deficiency Glycogenosis 12
Liver Phosphorylase Deficiency Syndrome 25
Liver Glycogen Phosphorylase Deficiency 59
Storage Disease, Glycogen, Type Vi 40
Hepatic Phosphorylase Deficiency 59
Liver Phosphorylase Deficiency 75
Phosphorylase, Glycogen, Liver 13
Glycogen Storage Disease Vib 75
Glycogenosis Type Vi 59
Glycogenosis Type 6 59
Gsd Type 6 59
Gsd-Vi 75
Her 76

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to liver glycogen phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
glycogen storage disease vi:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 232700
Disease Ontology 12 DOID:2754
ICD10 33 E74.09
MeSH 44 D006013
SNOMED-CT 68 237971004 29291001
Orphanet 59 ORPHA369
UMLS via Orphanet 74 C0017925
ICD10 via Orphanet 34 E74.0
MedGen 42 C0017925
KEGG 37 H01944
UMLS 73 C0017925

Summaries for Glycogen Storage Disease Vi

NIH Rare Diseases : 53 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 and glycogen storage disease, type ixd. 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 Adalimumab and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and heart, and related phenotypes are short stature and hypoglycemia

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency... more...

Description 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 all 21)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 29.8 G6PC PYGL PYGM
2 glycogen storage disease, type ixd 11.2
3 glycogen storage disease viii 11.2
4 fabry disease 11.1
5 rett syndrome 11.0
6 porencephaly 11.0
7 valproate embryopathy 10.8
8 glycogen storage disease iv 10.4 G6PC PYGL
9 glycogen storage disease v 10.3 PYGL PYGM
10 carbohydrate metabolic disorder 10.2 G6PC PYGM
11 acute insulin response 10.2 GCG PYGM
12 oculopharyngeal muscular dystrophy 10.2 MYH7 PYGM
13 fructose-1,6-bisphosphatase deficiency 10.1 G6PC GCG
14 endocrine pancreas disease 10.1 G6PC GCG
15 glucose metabolism disease 10.0 G6PC GCG
16 gastric leiomyoma 9.9 CHGA GCG
17 glycogen storage disease iii 9.8 G6PC GCG PYGL
18 ocular hypertension 9.7 FOS G6PC
19 endocrine gland cancer 9.6 CHGA GCG
20 insulinoma 9.5 CHGA GCG
21 multiple endocrine neoplasia, type i 9.4 CHGA PYGM

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Glycogen Storage Disease Vi:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
3 hepatomegaly 32 HP:0002240
4 postnatal growth retardation 32 HP:0008897
5 hyperlipidemia 32 HP:0003077
6 increased hepatic glycogen content 32 HP:0006568

MGI Mouse Phenotypes related to Glycogen Storage Disease Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 MGP PYGM CHGA G6PC

Drugs & Therapeutics for Glycogen Storage Disease Vi

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 3 331731-18-1 16219006
2 Antibodies Phase 3,Phase 2,Not Applicable
3 Antibodies, Monoclonal Phase 3,Phase 2
4 Anti-Inflammatory Agents Phase 3
5 Antirheumatic Agents Phase 3
6 Immunoglobulins Phase 3,Phase 2,Not Applicable
7 Pharmaceutical Solutions Phase 3
8
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
9
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
10
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
11
Mesna Approved, Investigational Phase 1, Phase 2 3375-50-6 598
12
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
13
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
14
Bevacizumab Approved, Investigational Phase 2 216974-75-3
15
Gemcitabine Approved Phase 2 95058-81-4 60750
16
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
17
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
18
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
19
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
20 Mocetinostat Investigational Phase 2 726169-73-9
21
Veliparib Investigational Phase 2 912444-00-9 11960529
22 Antimetabolites Phase 2
23 Antimetabolites, Antineoplastic Phase 2
24 Antimitotic Agents Phase 2
25 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
26 Histone Deacetylase Inhibitors Phase 2
27 Angiogenesis Inhibitors Phase 2
28 Angiogenesis Modulating Agents Phase 2
29 Anti-Infective Agents Phase 2
30 Antiviral Agents Phase 2
31 Alkylating Agents Phase 2
32 Antineoplastic Agents, Alkylating Phase 2
33 Liver Extracts Phase 2
34 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
35
Menthol Approved Not Applicable 2216-51-5 16666
36
Anastrozole Approved, Investigational 120511-73-1 2187
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
38 insulin Not Applicable
39 Insulin, Globin Zinc Not Applicable
40 Antineoplastic Agents, Hormonal
41 Aromatase Inhibitors
42 Estrogen Antagonists
43 Estrogens
44 Hormone Antagonists
45 Hormones
46 Hormones, Hormone Substitutes, and Hormone Antagonists
47 Steroid Synthesis Inhibitors

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Efficacy of Web-based Pain Self-management for Adolescents With Juvenile Idiopathic Arthritis Completed NCT01541917 Phase 3
2 Safety and Efficacy of Adalimumab in Patients With Active Ankylosing Spondylitis Completed NCT00195819 Phase 3
3 Human Anti-tumor Necrosis Factor (TNF) Monoclonal Antibody Adalimumab in Subjects With Active Ankylosing Spondylitis Completed NCT00085644 Phase 3
4 Study of Adalimumab in Participants With Peripheral Spondyloarthritis (SpA) Completed NCT01064856 Phase 3
5 Psychoeducational Approach to Improve Health in Lupus Completed NCT00000417 Phase 2
6 A Study of a New Combination and Schedule of Chemotherapy Drugs for the Treatment of Head and Neck Cancer Completed NCT00148122 Phase 2 Docetaxel;Capecitabine
7 An Open Label Extension Study in Participants With Rheumatoid Arthritis Completed NCT00837811 Phase 2
8 Hematopoietic Stem Cell Transplant in Devic's Disease Recruiting NCT00787722 Phase 1, Phase 2
9 A Study to Evaluate the Efficacy and Safety of TF0023 Spray on Subjects With Ischemic Strokes Recruiting NCT02785120 Phase 2 TF0023
10 MGCD0103 Administered in Combination With Azacitidine (Vidaza®) to Subjects With Relapsed or Refractory Hodgkin or Non-Hodgkin Lymphoma Terminated NCT00543582 Phase 2 MGCD0103 and Azacitidine
11 Oxaliplatin, Gemcitabine and Bevacizumab in Women With Recurrent Mullerian Carcinoma Terminated NCT00418093 Phase 2 Gemcitabine;Oxaliplatin;Bevacizumab
12 ABT-888 and Temozolomide for Liver Cancer Terminated NCT01205828 Phase 2 Temozolomide;ABT-888
13 A Study of Intravenous MK-8226 in Participants With Moderate-to-Severe Atopic Dermatitis (MK-8226-003) Terminated NCT01732510 Phase 1 MK-8226;Placebo
14 Psychosocial Treatment Intervention in Persons Newly Diagnosed With Rheumatoid Arthritis or Diabetes Completed NCT01066130 Not Applicable
15 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 Not Applicable
16 Efficacy of a Disease Management Program in Very Old Patients With Heart Failure Completed NCT01076465 Not Applicable
17 Music Therapy in the Treatment of Chronic Obstructive Pulmonary Disease Completed NCT02146235 Not Applicable
18 Ex Vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells Via CD34-Selection Recruiting NCT01189786 Not Applicable
19 Assesment of the Implementation of a Therapeutic Educational Intervention Affecting Adherence to Oral Chemotherapy Recruiting NCT02828449 Not Applicable
20 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
21 A Study on Optimizing Follow-up for Postmenopausal Women With Breast Cancer Treated With Adjuvant Endocrine Therapy Recruiting NCT02935920 Not Applicable
22 Platelet Rich Plasma (PRP) for Vulvar Lichen Sclerosus Active, not recruiting NCT03045172 Not Applicable Saline
23 Patient's Anastrozole Compliance to Therapy Programme 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:

41
Liver, Testes, Heart, Skeletal Muscle, Breast, T Cells

Publications for Glycogen Storage Disease Vi

Articles related to Glycogen Storage Disease Vi:

# Title Authors Year
1
Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene. ( 28984260 )
2017
2
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. ( 25266922 )
2014
3
Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia. ( 20723115 )
2010
4
High frequency of missense mutations in glycogen storage disease type VI. ( 17705025 )
2007
5
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. ( 9536091 )
1998
6
Glycogen Storage Disease Type VI ( 20301760 )
1993
7
Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI. ( 3148066 )
1988
8
The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. ( 2883891 )
1987

Variations for Glycogen Storage Disease Vi

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

75
# Symbol AA change Variation ID SNP ID
1 PYGL p.Asn339Ser VAR_007908 rs113993976
2 PYGL p.Asn377Lys VAR_007909 rs113993977

ClinVar genetic disease variations for Glycogen Storage Disease Vi:

6
(show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 PYGL NM_002863.4(PYGL): c.1768+1G> A single nucleotide variant Pathogenic rs113993982 GRCh37 Chromosome 14, 51378873: 51378873
2 PYGL NM_002863.4(PYGL): c.1768+1G> A single nucleotide variant Pathogenic rs113993982 GRCh38 Chromosome 14, 50912155: 50912155
3 PYGL NM_002863.4(PYGL): c.529-1G> C single nucleotide variant Pathogenic rs113993974 GRCh37 Chromosome 14, 51390819: 51390819
4 PYGL NM_002863.4(PYGL): c.529-1G> C single nucleotide variant Pathogenic rs113993974 GRCh38 Chromosome 14, 50924101: 50924101
5 PYGL NM_002863.4(PYGL): c.1131C> G (p.Asn377Lys) single nucleotide variant Pathogenic rs113993977 GRCh37 Chromosome 14, 51382651: 51382651
6 PYGL NM_002863.4(PYGL): c.1131C> G (p.Asn377Lys) single nucleotide variant Pathogenic rs113993977 GRCh38 Chromosome 14, 50915933: 50915933
7 PYGL NM_002863.4(PYGL): c.1620+1G> A single nucleotide variant Pathogenic rs113993981 GRCh37 Chromosome 14, 51379746: 51379746
8 PYGL NM_002863.4(PYGL): c.1620+1G> A single nucleotide variant Pathogenic rs113993981 GRCh38 Chromosome 14, 50913028: 50913028
9 PYGL NM_002863.4(PYGL): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs113993978 GRCh37 Chromosome 14, 51382587: 51382587
10 PYGL NM_002863.4(PYGL): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs113993978 GRCh38 Chromosome 14, 50915869: 50915869
11 PYGL NM_002863.4(PYGL): c.1366G> A (p.Val456Met) single nucleotide variant Pathogenic rs113993979 GRCh37 Chromosome 14, 51382091: 51382091
12 PYGL NM_002863.4(PYGL): c.1366G> A (p.Val456Met) single nucleotide variant Pathogenic rs113993979 GRCh38 Chromosome 14, 50915373: 50915373
13 PYGL NM_002863.4(PYGL): c.1471C> T (p.Arg491Cys) single nucleotide variant Pathogenic rs113993980 GRCh37 Chromosome 14, 51381466: 51381466
14 PYGL NM_002863.4(PYGL): c.1471C> T (p.Arg491Cys) single nucleotide variant Pathogenic rs113993980 GRCh38 Chromosome 14, 50914748: 50914748
15 PYGL NM_002863.4(PYGL): c.1895A> T (p.Asn632Ile) single nucleotide variant Pathogenic rs113993983 GRCh37 Chromosome 14, 51378522: 51378522
16 PYGL NM_002863.4(PYGL): c.1895A> T (p.Asn632Ile) single nucleotide variant Pathogenic rs113993983 GRCh38 Chromosome 14, 50911804: 50911804
17 PYGL NM_002863.4(PYGL): c.2017G> A (p.Glu673Lys) single nucleotide variant Pathogenic rs113993984 GRCh37 Chromosome 14, 51376773: 51376773
18 PYGL NM_002863.4(PYGL): c.2017G> A (p.Glu673Lys) single nucleotide variant Pathogenic rs113993984 GRCh38 Chromosome 14, 50910055: 50910055
19 PYGL NM_002863.4(PYGL): c.2023T> A (p.Ser675Thr) single nucleotide variant Pathogenic rs113993985 GRCh37 Chromosome 14, 51376767: 51376767
20 PYGL NM_002863.4(PYGL): c.2023T> A (p.Ser675Thr) single nucleotide variant Pathogenic rs113993985 GRCh38 Chromosome 14, 50910049: 50910049
21 PYGL NM_002863.4(PYGL): c.2024C> T (p.Ser675Leu) single nucleotide variant Pathogenic rs113993986 GRCh37 Chromosome 14, 51376766: 51376766
22 PYGL NM_002863.4(PYGL): c.2024C> T (p.Ser675Leu) single nucleotide variant Pathogenic rs113993986 GRCh38 Chromosome 14, 50910048: 50910048
23 PYGL NM_002863.4(PYGL): c.2461T> C (p.Tyr821His) single nucleotide variant Pathogenic rs113993988 GRCh37 Chromosome 14, 51372193: 51372193
24 PYGL NM_002863.4(PYGL): c.2461T> C (p.Tyr821His) single nucleotide variant Pathogenic rs113993988 GRCh38 Chromosome 14, 50905475: 50905475
25 PYGL NM_002863.4(PYGL): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs113993973 GRCh37 Chromosome 14, 51404519: 51404519
26 PYGL NM_002863.4(PYGL): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs113993973 GRCh38 Chromosome 14, 50937801: 50937801
27 PYGL NM_002863.4(PYGL): c.698G> A (p.Gly233Asp) single nucleotide variant Pathogenic rs113993975 GRCh37 Chromosome 14, 51387748: 51387748
28 PYGL NM_002863.4(PYGL): c.698G> A (p.Gly233Asp) single nucleotide variant Pathogenic rs113993975 GRCh38 Chromosome 14, 50921030: 50921030
29 PYGL NM_002863.4(PYGL): c.1016A> G (p.Asn339Ser) single nucleotide variant Pathogenic rs113993976 GRCh37 Chromosome 14, 51383436: 51383436
30 PYGL NM_002863.4(PYGL): c.1016A> G (p.Asn339Ser) single nucleotide variant Pathogenic rs113993976 GRCh38 Chromosome 14, 50916718: 50916718
31 PYGL NM_002863.4(PYGL): c.44_45insGAGAAGCGGCGGCAGATCAG (p.Ser15Argfs) insertion Pathogenic rs786204785 GRCh37 Chromosome 14, 51411077: 51411078
32 PYGL NM_002863.4(PYGL): c.44_45insGAGAAGCGGCGGCAGATCAG (p.Ser15Argfs) insertion Pathogenic rs786204785 GRCh38 Chromosome 14, 50944359: 50944360
33 PYGL NM_002863.4(PYGL): c.153C> T (p.Asp51=) single nucleotide variant Benign/Likely benign rs77316189 GRCh37 Chromosome 14, 51410969: 51410969
34 PYGL NM_002863.4(PYGL): c.153C> T (p.Asp51=) single nucleotide variant Benign/Likely benign rs77316189 GRCh38 Chromosome 14, 50944251: 50944251
35 PYGL NM_002863.4(PYGL): c.1093-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147211684 GRCh37 Chromosome 14, 51382695: 51382695
36 PYGL NM_002863.4(PYGL): c.1093-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147211684 GRCh38 Chromosome 14, 50915977: 50915977
37 PYGL NM_002863.4(PYGL): c.1648dupC (p.Leu550Profs) duplication Pathogenic rs529502292 GRCh37 Chromosome 14, 51378994: 51378994
38 PYGL NM_002863.4(PYGL): c.1648dupC (p.Leu550Profs) duplication Pathogenic rs529502292 GRCh38 Chromosome 14, 50912276: 50912276
39 PYGL NM_002863.4(PYGL): c.1947C> A (p.Tyr649Ter) single nucleotide variant Pathogenic rs150547274 GRCh37 Chromosome 14, 51378470: 51378470
40 PYGL NM_002863.4(PYGL): c.1947C> A (p.Tyr649Ter) single nucleotide variant Pathogenic rs150547274 GRCh38 Chromosome 14, 50911752: 50911752
41 PYGL NM_002863.4(PYGL): c.1828-2delA deletion Benign rs11356035 GRCh37 Chromosome 14, 51378591: 51378591
42 PYGL NM_002863.4(PYGL): c.1828-2delA deletion Benign rs11356035 GRCh38 Chromosome 14, 50911873: 50911873
43 PYGL NM_002863.4(PYGL): c.2112T> C (p.Ala704=) single nucleotide variant Benign/Likely benign rs35110875 GRCh37 Chromosome 14, 51376678: 51376678
44 PYGL NM_002863.4(PYGL): c.2112T> C (p.Ala704=) single nucleotide variant Benign/Likely benign rs35110875 GRCh38 Chromosome 14, 50909960: 50909960
45 PYGL NM_002863.4(PYGL): c.*11delT deletion Benign rs3216001 GRCh37 Chromosome 14, 51372099: 51372099
46 PYGL NM_002863.4(PYGL): c.*11delT deletion Benign rs3216001 GRCh38 Chromosome 14, 50905381: 50905381
47 PYGL NM_002863.4(PYGL): c.*7G> C single nucleotide variant Benign rs1042266 GRCh38 Chromosome 14, 50905385: 50905385
48 PYGL NM_002863.4(PYGL): c.*7G> C single nucleotide variant Benign rs1042266 GRCh37 Chromosome 14, 51372103: 51372103
49 PYGL NM_002863.4(PYGL): c.2534A> G (p.Asn845Ser) single nucleotide variant Benign/Likely benign rs78558135 GRCh38 Chromosome 14, 50905402: 50905402
50 PYGL NM_002863.4(PYGL): c.2534A> G (p.Asn845Ser) single nucleotide variant Benign/Likely benign rs78558135 GRCh37 Chromosome 14, 51372120: 51372120

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:

37
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 FOS G6PC PYGL PYGM
2
Show member pathways
12.16 G6PC PYGL PYGM
3
Show member pathways
11.41 G6PC PYGL PYGM
4
Show member pathways
11.17 G6PC PYGL PYGM
5
Show member pathways
11.03 FOS GCG
6 10.94 G6PC GCG PYGL PYGM
7 10.88 PYGL PYGM

GO Terms for Glycogen Storage Disease Vi

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

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.26 G6PC PYGL
2 regulation of the force of heart contraction GO:0002026 9.16 CHGA MYH7
3 glycogen metabolic process GO:0005977 9.13 G6PC PYGL PYGM
4 glycogen catabolic process GO:0005980 8.8 G6PC PYGL PYGM

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

# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 9.32 PYGL PYGM
2 phosphorylase activity GO:0004645 9.26 PYGL PYGM
3 SHG alpha-glucan phosphorylase activity GO:0102499 9.16 PYGL PYGM
4 linear malto-oligosaccharide phosphorylase activity GO:0102250 8.96 PYGL PYGM
5 glycogen phosphorylase activity GO:0008184 8.62 PYGL PYGM

Sources for Glycogen Storage Disease Vi

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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