GSD6
MCID: GLY005
MIFTS: 49

Glycogen Storage Disease Vi (GSD6)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare 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
NCIt 50 C126875
SNOMED-CT 68 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 iii and glycogen storage disease. 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 Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and heart, and related phenotypes are short stature and hypoglycemia

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.

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.

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.

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 top 50) (show all 463)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease iii 31.1 G6PC GCG PYGL
2 glycogen storage disease 30.1 G6PC PYGL PYGM
3 fructose-1,6-bisphosphatase deficiency 29.3 G6PC GCG
4 multiple endocrine neoplasia, type i 29.1 CHGA PYGM
5 glycogen storage disease, type ixd 11.4
6 glycogen storage disease viii 11.4
7 fabry disease 11.3
8 sudden infant death syndrome 11.1
9 rett syndrome 11.1
10 porencephaly 11.1
11 ocular motor apraxia 10.9
12 valproate embryopathy 10.9
13 chromosome 20p deletion 10.9
14 machado-joseph disease 10.8
15 blepharoptosis, myopia, and ectopia lentis 10.8
16 hypertrichosis, congenital generalized, with or without gingival hyperplasia 10.8
17 glaucoma and sleep apnea 10.8
18 laryngomalacia 10.8
19 lymphedema and cerebral arteriovenous anomaly 10.8
20 microcephaly-deafness syndrome 10.8
21 spinocerebellar ataxia 7 10.8
22 otodental dysplasia 10.8
23 ptosis, strabismus, and ectopic pupils 10.8
24 homocarnosinosis 10.8
25 hydrocephalus, normal-pressure 10.8
26 myopathy, congenital 10.8
27 hyperoxaluria, primary, type i 10.8
28 wrinkly skin syndrome 10.8
29 body mass index quantitative trait locus 11 10.8
30 lesch-nyhan syndrome 10.8
31 spinal and bulbar muscular atrophy, x-linked 1 10.8
32 preeclampsia/eclampsia 4 10.8
33 chromosome 16p13.3 duplication syndrome 10.8
34 epileptic encephalopathy, early infantile, 12 10.8
35 preeclampsia/eclampsia 5 10.8
36 hepatitis b 10.8
37 body dysmorphic disorder 10.8
38 zika fever 10.8
39 ovarian disease 10.8
40 sick building syndrome 10.8
41 babesiosis 10.8
42 cervical incompetence 10.8
43 1q duplications 10.8
44 aniridia - ptosis - intellectual disability - familial obesity 10.8
45 chromosome 10p deletion 10.8
46 chromosome 17p duplication 10.8
47 chromosome 20 trisomy 10.8
48 cortical blindness-intellectual disability-polydactyly syndrome 10.8
49 gigantism 10.8
50 hunter rudd hoffmann syndrome 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

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 CHGA G6PC MGP PYGM

Drugs & Therapeutics for Glycogen Storage Disease Vi

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 3 331731-18-1 16219006
2 Antirheumatic Agents Phase 3,Phase 2,Phase 1
3 Anti-Inflammatory Agents Phase 3,Phase 1,Phase 2
4 Immunoglobulins Phase 3,Phase 2,Phase 1,Not Applicable
5 Antibodies Phase 3,Phase 2,Phase 1,Not Applicable
6 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
7 Immunologic Factors Phase 3,Phase 2,Phase 1
8 Pharmaceutical Solutions Phase 3
9
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
10
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
11
leucovorin Approved Phase 2 58-05-9 6006 143
12
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
13
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
14
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
15
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
16
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
17
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
18
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 6055-19-2, 50-18-0 2907
19
Mesna Approved, Investigational Phase 1, Phase 2 3375-50-6 598
20
Ifosfamide Approved Phase 1, Phase 2 3778-73-2 3690
21
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
22
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
23
Bevacizumab Approved, Investigational Phase 2 216974-75-3
24
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
25
Gemcitabine Approved Phase 2 95058-81-4 60750
26
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
27
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
28
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
30
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
31 Mocetinostat Investigational Phase 2 726169-73-9
32
Veliparib Investigational Phase 2 912444-00-9 11960529
33 Antimetabolites Phase 2
34 Antimitotic Agents Phase 2
35 Antimetabolites, Antineoplastic Phase 2
36 Dermatologic Agents Phase 2
37 Folic Acid Antagonists Phase 2
38 Nucleic Acid Synthesis Inhibitors Phase 2
39 Vitamin B Complex Phase 2
40 Immunosuppressive Agents Phase 2,Phase 1
41 Folate Phase 2
42 Vitamin B9 Phase 2
43 Protective Agents Phase 1, Phase 2
44 Antiemetics Phase 1, Phase 2
45 Hormones Phase 1, Phase 2
46 Methylprednisolone acetate Phase 1, Phase 2
47 Krestin Phase 1, Phase 2
48 Antineoplastic Agents, Hormonal Phase 1, Phase 2
49 Antilymphocyte Serum Phase 1, Phase 2
50
Isophosphamide mustard Phase 1, Phase 2 0

Interventional clinical trials:

(show all 25)
# 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 A Study for Patients With Active Rheumatoid Arthritis Despite Ongoing Methotrexate Therapy Completed NCT00785928 Phase 2 Placebo
9 A Study to Evaluate the Efficacy and Safety of TF0023 Spray on Subjects With Ischemic Strokes Recruiting NCT02785120 Phase 2 TF0023
10 Hematopoietic Stem Cell Transplant in Devic's Disease Active, not recruiting NCT00787722 Phase 1, Phase 2 Cyclophosphamide;G-CSF;rATG;Mesna;Rituximab;Methylprednisolone
11 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
12 Oxaliplatin, Gemcitabine and Bevacizumab in Women With Recurrent Mullerian Carcinoma Terminated NCT00418093 Phase 2 Gemcitabine;Oxaliplatin;Bevacizumab
13 ABT-888 and Temozolomide for Liver Cancer Terminated NCT01205828 Phase 2 Temozolomide;ABT-888
14 A Study of Intravenous MK-8226 in Participants With Moderate-to-Severe Atopic Dermatitis (MK-8226-003) Terminated NCT01732510 Phase 1 MK-8226;Placebo
15 Psychosocial Treatment Intervention in Persons Newly Diagnosed With Rheumatoid Arthritis or Diabetes Completed NCT01066130 Not Applicable
16 Platelet Rich Plasma (PRP) for Vulvar Lichen Sclerosus Completed NCT03045172 Not Applicable Placebo
17 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
18 Efficacy of a Disease Management Program in Very Old Patients With Heart Failure Completed NCT01076465 Not Applicable
19 Music Therapy in the Treatment of Chronic Obstructive Pulmonary Disease Completed NCT02146235 Not Applicable
20 Ex Vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells Via CD34-Selection Recruiting NCT01189786 Not Applicable
21 MonaLisa Touch Laser for the Treatment of Vulvar Lichen Sclerosus Recruiting NCT03665584 Not Applicable
22 Assesment of the Implementation of a Therapeutic Educational Intervention Affecting Adherence to Oral Chemotherapy Recruiting NCT02828449 Not Applicable
23 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
24 A Study on Optimizing Follow-up for Postmenopausal Women With Breast Cancer Treated With Adjuvant Endocrine Therapy Active, not recruiting NCT02935920 Not Applicable
25 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, Lung, Bone, Thyroid

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
Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia. ( 20723115 )
2010
3
High frequency of missense mutations in glycogen storage disease type VI. ( 17705025 )
2007
4
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. ( 9536091 )
1998
5
Effect of clonidine on the height of a child with glycogen storage disease type VI: a 13 year follow-up study. ( 8942015 )
1996
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 130)
# 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.664G> A (p.Val222Ile) single nucleotide variant Benign/Likely benign rs946616 GRCh37 Chromosome 14, 51387782: 51387782
6 PYGL NM_002863.4(PYGL): c.664G> A (p.Val222Ile) single nucleotide variant Benign/Likely benign rs946616 GRCh38 Chromosome 14, 50921064: 50921064
7 PYGL NM_002863.4(PYGL): c.1131C> G (p.Asn377Lys) single nucleotide variant Pathogenic rs113993977 GRCh37 Chromosome 14, 51382651: 51382651
8 PYGL NM_002863.4(PYGL): c.1131C> G (p.Asn377Lys) single nucleotide variant Pathogenic rs113993977 GRCh38 Chromosome 14, 50915933: 50915933
9 PYGL NM_002863.4(PYGL): c.1620+1G> A single nucleotide variant Pathogenic rs113993981 GRCh37 Chromosome 14, 51379746: 51379746
10 PYGL NM_002863.4(PYGL): c.1620+1G> A single nucleotide variant Pathogenic rs113993981 GRCh38 Chromosome 14, 50913028: 50913028
11 PYGL NM_002863.4(PYGL): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs113993978 GRCh37 Chromosome 14, 51382587: 51382587
12 PYGL NM_002863.4(PYGL): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs113993978 GRCh38 Chromosome 14, 50915869: 50915869
13 PYGL NM_002863.4(PYGL): c.1366G> A (p.Val456Met) single nucleotide variant Pathogenic rs113993979 GRCh37 Chromosome 14, 51382091: 51382091
14 PYGL NM_002863.4(PYGL): c.1366G> A (p.Val456Met) single nucleotide variant Pathogenic rs113993979 GRCh38 Chromosome 14, 50915373: 50915373
15 PYGL NM_002863.4(PYGL): c.1471C> T (p.Arg491Cys) single nucleotide variant Pathogenic rs113993980 GRCh37 Chromosome 14, 51381466: 51381466
16 PYGL NM_002863.4(PYGL): c.1471C> T (p.Arg491Cys) single nucleotide variant Pathogenic rs113993980 GRCh38 Chromosome 14, 50914748: 50914748
17 PYGL NM_002863.4(PYGL): c.1895A> T (p.Asn632Ile) single nucleotide variant Pathogenic rs113993983 GRCh37 Chromosome 14, 51378522: 51378522
18 PYGL NM_002863.4(PYGL): c.1895A> T (p.Asn632Ile) single nucleotide variant Pathogenic rs113993983 GRCh38 Chromosome 14, 50911804: 50911804
19 PYGL NM_002863.4(PYGL): c.1900G> C (p.Asp634His) single nucleotide variant Conflicting interpretations of pathogenicity rs35026927 GRCh37 Chromosome 14, 51378517: 51378517
20 PYGL NM_002863.4(PYGL): c.1900G> C (p.Asp634His) single nucleotide variant Conflicting interpretations of pathogenicity rs35026927 GRCh38 Chromosome 14, 50911799: 50911799
21 PYGL NM_002863.4(PYGL): c.2017G> A (p.Glu673Lys) single nucleotide variant Pathogenic rs113993984 GRCh37 Chromosome 14, 51376773: 51376773
22 PYGL NM_002863.4(PYGL): c.2017G> A (p.Glu673Lys) single nucleotide variant Pathogenic rs113993984 GRCh38 Chromosome 14, 50910055: 50910055
23 PYGL NM_002863.4(PYGL): c.2023T> A (p.Ser675Thr) single nucleotide variant Pathogenic rs113993985 GRCh37 Chromosome 14, 51376767: 51376767
24 PYGL NM_002863.4(PYGL): c.2023T> A (p.Ser675Thr) single nucleotide variant Pathogenic rs113993985 GRCh38 Chromosome 14, 50910049: 50910049
25 PYGL NM_002863.4(PYGL): c.2024C> T (p.Ser675Leu) single nucleotide variant Pathogenic rs113993986 GRCh37 Chromosome 14, 51376766: 51376766
26 PYGL NM_002863.4(PYGL): c.2024C> T (p.Ser675Leu) single nucleotide variant Pathogenic rs113993986 GRCh38 Chromosome 14, 50910048: 50910048
27 PYGL NM_002863.4(PYGL): c.2042A> C (p.Lys681Thr) single nucleotide variant Uncertain significance rs113993987 GRCh37 Chromosome 14, 51376748: 51376748
28 PYGL NM_002863.4(PYGL): c.2042A> C (p.Lys681Thr) single nucleotide variant Uncertain significance rs113993987 GRCh38 Chromosome 14, 50910030: 50910030
29 PYGL NM_002863.4(PYGL): c.2461T> C (p.Tyr821His) single nucleotide variant Pathogenic rs113993988 GRCh37 Chromosome 14, 51372193: 51372193
30 PYGL NM_002863.4(PYGL): c.2461T> C (p.Tyr821His) single nucleotide variant Pathogenic rs113993988 GRCh38 Chromosome 14, 50905475: 50905475
31 PYGL NM_002863.4(PYGL): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs113993973 GRCh37 Chromosome 14, 51404519: 51404519
32 PYGL NM_002863.4(PYGL): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs113993973 GRCh38 Chromosome 14, 50937801: 50937801
33 PYGL NM_002863.4(PYGL): c.38A> C (p.Gln13Pro) single nucleotide variant Uncertain significance rs113993972 GRCh37 Chromosome 14, 51411084: 51411084
34 PYGL NM_002863.4(PYGL): c.38A> C (p.Gln13Pro) single nucleotide variant Uncertain significance rs113993972 GRCh38 Chromosome 14, 50944366: 50944366
35 PYGL NM_002863.4(PYGL): c.698G> A (p.Gly233Asp) single nucleotide variant Pathogenic rs113993975 GRCh37 Chromosome 14, 51387748: 51387748
36 PYGL NM_002863.4(PYGL): c.698G> A (p.Gly233Asp) single nucleotide variant Pathogenic rs113993975 GRCh38 Chromosome 14, 50921030: 50921030
37 PYGL NM_002863.4(PYGL): c.1016A> G (p.Asn339Ser) single nucleotide variant Pathogenic rs113993976 GRCh37 Chromosome 14, 51383436: 51383436
38 PYGL NM_002863.4(PYGL): c.1016A> G (p.Asn339Ser) single nucleotide variant Pathogenic rs113993976 GRCh38 Chromosome 14, 50916718: 50916718
39 PYGL NM_002863.4(PYGL): c.1969+1_1969+4delGTAC deletion no interpretation for the single variant GRCh37 Chromosome 14, 51378444: 51378447
40 PYGL NM_002863.4(PYGL): c.1969+1_1969+4delGTAC deletion no interpretation for the single variant GRCh38 Chromosome 14, 50911726: 50911729
41 PYGL NM_002863.4(PYGL): c.1964_1969invAAAAAG (p.Glu655_Lys656del) inversion no interpretation for the single variant GRCh37 Chromosome 14, 51378448: 51378453
42 PYGL NM_002863.4(PYGL): c.1964_1969invAAAAAG (p.Glu655_Lys656del) inversion no interpretation for the single variant GRCh38 Chromosome 14, 50911730: 50911735
43 PYGL NM_002863.4(PYGL): c.44_45insGAGAAGCGGCGGCAGATCAG (p.Ser15Argfs) insertion Pathogenic rs786204785 GRCh37 Chromosome 14, 51411077: 51411078
44 PYGL NM_002863.4(PYGL): c.44_45insGAGAAGCGGCGGCAGATCAG (p.Ser15Argfs) insertion Pathogenic rs786204785 GRCh38 Chromosome 14, 50944359: 50944360
45 PYGL NM_002863.4(PYGL): c.153C> T (p.Asp51=) single nucleotide variant Benign/Likely benign rs77316189 GRCh37 Chromosome 14, 51410969: 51410969
46 PYGL NM_002863.4(PYGL): c.153C> T (p.Asp51=) single nucleotide variant Benign/Likely benign rs77316189 GRCh38 Chromosome 14, 50944251: 50944251
47 PYGL NM_002863.4(PYGL): c.1093-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147211684 GRCh37 Chromosome 14, 51382695: 51382695
48 PYGL NM_002863.4(PYGL): c.1093-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147211684 GRCh38 Chromosome 14, 50915977: 50915977
49 PYGL NM_002863.4(PYGL): c.1648dupC (p.Leu550Profs) duplication Pathogenic rs529502292 GRCh37 Chromosome 14, 51378994: 51378994
50 PYGL NM_002863.4(PYGL): c.1648dupC (p.Leu550Profs) duplication Pathogenic rs529502292 GRCh38 Chromosome 14, 50912276: 50912276

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 regulation of the force of heart contraction GO:0002026 9.16 CHGA MYH7
2 glycogen metabolic process GO:0005977 9.13 G6PC PYGL PYGM
3 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 glycogen phosphorylase activity GO:0008184 9.16 PYGL PYGM
4 linear malto-oligosaccharide phosphorylase activity GO:0102250 8.96 PYGL PYGM
5 SHG alpha-glucan phosphorylase activity GO:0102499 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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