GSD5
MCID: GLY004
MIFTS: 56

Glycogen Storage Disease V (GSD5)

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 V

MalaCards integrated aliases for Glycogen Storage Disease V:

Name: Glycogen Storage Disease V 58 12 76 15
Glycogen Storage Disease Type V 12 77 25 26 60 38 45 74
Myophosphorylase Deficiency 58 12 77 25 54 26 60 76
Mcardle Disease 58 77 25 54 26 60 76 13
Muscle Glycogen Phosphorylase Deficiency 58 25 54 26
Glycogen Storage Disease, Type V 12 30 6
Glycogen Storage Disease Type 5 54 26 60
Pygm Deficiency 58 54 26
Gsd V 58 26 76
Mcardle Type Glycogen Storage Disease 54 26
Glycogenosis Type V 25 60
Mcardle's Disease 12 26
Gsd Type V 26 60
Pygmy 58 74
Gsd5 58 76
Glycogen Storage Disease Due to Muscle Glycogen Phosphorylase Deficiency 60
Glycogenosis Due to Muscle Glycogen Phosphorylase Deficiency 60
Gsd Due to Muscle Glycogen Phosphorylase Deficiency 60
Storage Disease, Glycogen, Type V 41
Muscle Phosphorylase Deficiency 26
Phosphorylase, Glycogen, Muscle 13
Glycogen Storage Disease 5 76
Glycogenosis Type 5 60
Mcardle Syndrome 26
Mcardles Disease 56
Pygmy, African 58
Glycogenosis 5 26
Gsd Type 5 60
Gsd 5 54
Gsd-V 76
Gsdv 25

Characteristics:

Orphanet epidemiological data:

60
glycogen storage disease due to muscle glycogen phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
symptoms usually appear in adulthood
'second wind' phenomenon
painful cramping following ischemic exercise test


HPO:

33
glycogen storage disease v:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2746
KEGG 38 H01943
MeSH 45 D006012
NCIt 51 C84738
SNOMED-CT 69 55912009
ICD10 34 E74.04
MESH via Orphanet 46 C537276 D006012
ICD10 via Orphanet 35 E74.0
UMLS via Orphanet 75 C0017924 C2936916
Orphanet 60 ORPHA368

Summaries for Glycogen Storage Disease V

NIH Rare Diseases : 54 Glycogen storage disease type 5 (GSDV) is a genetic disorder that prevents the body from breaking down glycogen. Glycogen is an important source of energy that is stored in muscle tissue. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Usually, when people with this disease rest after brief exercise they can resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind"). The signs and symptoms can vary significantly and may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. It is caused by mutations in the PYGM gene and is inherited in an autosomal recessive fashion. There is no cure or specific treatment but the disease can be managed with moderate-intensity aerobic training (e.g., walking or brisk walking, bicycling) and diet.

MalaCards based summary : Glycogen Storage Disease V, also known as glycogen storage disease type v, is related to adenosine monophosphate deaminase 1 deficiency and myoglobinuria. An important gene associated with Glycogen Storage Disease V is PYGM (Glycogen Phosphorylase, Muscle Associated), and among its related pathways/superpathways are Starch and sucrose metabolism and Insulin signaling pathway. The drugs Valproic Acid and Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and testes, and related phenotypes are elevated serum creatine kinase and myopathy

Genetics Home Reference : 26 Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.

OMIM : 58 McArdle disease is an autosomal recessive metabolic disorder characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria (summary by Chen, 2001). (232600)

UniProtKB/Swiss-Prot : 76 Glycogen storage disease 5: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.

Wikipedia : 77 Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage... more...

GeneReviews: NBK1344

Related Diseases for Glycogen Storage Disease V

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 V via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 adenosine monophosphate deaminase 1 deficiency 30.1 AMPD1 AMPD3
2 myoglobinuria 29.8 CPT2 PFKM PYGM
3 glycogen storage disease 29.6 GAA PFKM PYGL PYGM
4 muscular phosphorylase kinase deficiency 11.2
5 myoglobinuria, acute recurrent, autosomal recessive 11.1
6 phosphoglycerate mutase deficiency 11.1
7 phosphoglycerate kinase deficiency 10.2 PFKM PYGM
8 insulin-like growth factor i 10.2
9 myoglobinuria, recurrent 10.1 CPT2 PYGM
10 glycogen storage disease vi 10.1 PYGL PYGM
11 glycogen storage disease ii 10.1 GAA PYGM
12 oculopharyngeal muscular dystrophy 10.1 GAA PYGM
13 muscle disorders 10.1
14 myopathy 10.1
15 compartment syndrome 10.1
16 hyperuricemia 10.1
17 cystic fibrosis 10.1
18 salmonellosis 10.1
19 spondyloarthropathy 10.1
20 polymyositis 10.1
21 seizure disorder 10.1
22 congenital nonspherocytic hemolytic anemia 10.1 AMPD3 PFKM
23 carbohydrate metabolic disorder 10.0 GAA PYGM
24 pyruvate kinase deficiency of red cells 10.0 AMPD3 PFKM
25 diabetes mellitus, noninsulin-dependent 10.0
26 myopathy, congenital 10.0
27 sudden infant death syndrome 10.0
28 stroke, ischemic 10.0
29 myocardial infarction 10.0
30 microvascular complications of diabetes 3 10.0
31 hemorrhage, intracerebral 10.0
32 muscular dystrophy 10.0
33 limb-girdle muscular dystrophy 10.0
34 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.0
35 encephalopathy 10.0
36 buschke-ollendorff syndrome 10.0
37 yaws 10.0
38 sarcoma 10.0
39 dermatitis 10.0
40 spindle cell sarcoma 10.0
41 kidney disease 10.0
42 polycystic kidney disease 10.0
43 dwarfism 10.0
44 neuromuscular disease 10.0 AMPD1 GAA
45 glycogen storage disease iii 10.0 GAA PYGL
46 agammaglobulinemia 10.0
47 multiple sclerosis 10.0
48 inclusion body myositis 10.0
49 myositis 10.0
50 aging 10.0

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



Diseases related to Glycogen Storage Disease V

Symptoms & Phenotypes for Glycogen Storage Disease V

Human phenotypes related to Glycogen Storage Disease V:

33 60 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 33 very rare (1%) HP:0003236
2 myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003198
3 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
4 abnormality of the cardiovascular system 60 33 occasional (7.5%) Occasional (29-5%) HP:0001626
5 muscle weakness 33 very rare (1%) HP:0001324
6 myoglobinuria 33 very rare (1%) HP:0002913
7 short stature 33 HP:0004322
8 abnormality of metabolism/homeostasis 33 HP:0001939
9 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
10 abnormality of the endocrine system 33 HP:0000818
11 exercise-induced myalgia 33 HP:0003738
12 exercise-induced rhabdomyolysis 33 HP:0009045
13 exercise-induced muscle cramps 33 HP:0003710
14 dark urine 33 HP:0040319

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
myoglobinuria
dark urine following exercise

Laboratory Abnormalities:
increased creatine kinase
muscle glycogen phosphorylase deficiency
increased ammonia with exercise
increased uric acid with exercise

Muscle Soft Tissue:
rhabdomyolysis
skeletal muscle weakness
decreased exercise capacity
muscle pain and cramps following exercise

Clinical features from OMIM:

232600 265850

GenomeRNAi Phenotypes related to Glycogen Storage Disease V according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.77 CHKB PFKM
2 Decreased viability GR00221-A-2 9.77 CHKB CPT2 PFKM
3 Decreased viability GR00221-A-3 9.77 CHKB PFKM
4 Decreased viability GR00221-A-4 9.77 CHKB CPT2
5 Decreased viability GR00301-A 9.77 CHKB
6 Decreased viability GR00402-S-2 9.77 CHKB CPT2 PFKM
7 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 GAA PFKM PYGL

MGI Mouse Phenotypes related to Glycogen Storage Disease V:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 AMPD1 AMPD3 CHKB CPT2 GAA PFKM
2 muscle MP:0005369 9.02 AMPD1 CHKB GAA PFKM PYGM

Drugs & Therapeutics for Glycogen Storage Disease V

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
2 Central Nervous System Depressants Phase 2
3 Psychotropic Drugs Phase 2
4 Tranquilizing Agents Phase 2
5 Antimanic Agents Phase 2
6 Neurotransmitter Agents Phase 2
7 Anticonvulsants Phase 2
8 GABA Agents Phase 2
9 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triheptanoin in Mc Ardle Unknown status NCT02919631 Phase 2 Triheptanoin;Placebo oil
2 Sodium Valproate for GSDV Completed NCT03112889 Phase 2 Sodium Valproate
3 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) Active, not recruiting NCT02432768 Phase 2 Triheptanoin
4 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
5 Modified Ketogenic Diet in Patients With McArdle Disease Part A Completed NCT03843606 Not Applicable
6 MRI in McArdle Disease (GSDV) Recruiting NCT03844022
7 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
8 Biomarker for Glycogen Storage Diseases (BioGlycogen) Recruiting NCT02385162
9 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923
10 Oral Ketone Body Supplementation in Patients With McArdle Disease Not yet recruiting NCT03945370 Not Applicable

Search NIH Clinical Center for Glycogen Storage Disease V

Cochrane evidence based reviews: glycogen storage disease type v

Genetic Tests for Glycogen Storage Disease V

Genetic tests related to Glycogen Storage Disease V:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type V 30 PYGM

Anatomical Context for Glycogen Storage Disease V

MalaCards organs/tissues related to Glycogen Storage Disease V:

42
Kidney, T Cells, Testes, Skeletal Muscle, Liver, Breast

Publications for Glycogen Storage Disease V

Articles related to Glycogen Storage Disease V:

(show all 31)
# Title Authors Year
1
Spondyloarthropathy associated with glycogen storage disease type V mimicking polymyositis. ( 30608612 )
2019
2
Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease). ( 30560358 )
2018
3
Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V. ( 27273923 )
2016
4
[McArdle disease or glycogen storage disease type v: Should it affect anaesthetic management?]. ( 25034937 )
2015
5
The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report. ( 25045239 )
2014
6
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). ( 25391139 )
2014
7
McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature. ( 23565573 )
2013
8
Glycogen storage disease type V (Mc Ardle's disease): a report on three cases. ( 22234204 )
2011
9
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern. ( 21880526 )
2011
10
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). ( 21154353 )
2010
11
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). ( 18425888 )
2008
12
McArdle disease: molecular genetic update. ( 17915571 )
2007
13
Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: confirmation by PCR-RFLP testing. ( 15768143 )
2004
14
Pharmacological and nutritional treatment for McArdle's disease (Glycogen Storage Disease type V). ( 15266486 )
2004
15
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease. ( 14748827 )
2004
16
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease. ( 14638972 )
2003
17
Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease. ( 11168025 )
2001
18
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. ( 10681080 )
2000
19
Molecular characterization of McArdle's disease in two large Finnish families. ( 10450796 )
1999
20
Mutation analysis in myophosphorylase deficiency (McArdle's disease). ( 9506549 )
1998
21
Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. ( 9152836 )
1997
22
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). ( 8535454 )
1995
23
Adenovirus-mediated delivery into myocytes of muscle glycogen phosphorylase, the enzyme deficient in patients with glycogen-storage disease type V. ( 7818463 )
1994
24
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). ( 7951262 )
1994
25
Three new mutations in patients with myophosphorylase deficiency (McArdle disease). ( 8279469 )
1994
26
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). ( 8316268 )
1993
27
McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. ( 8401511 )
1993
28
McArdle's disease: two clinical expressions in the same pedigree. ( 2391551 )
1990
29
McArdle disease in a Druze family. ( 2703328 )
1989
30
McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote. ( 3476861 )
1987
31
Dominant inheritance of McArdle syndrome. ( 1067063 )
1976

Variations for Glycogen Storage Disease V

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

76 (show all 17)
# Symbol AA change Variation ID SNP ID
1 PYGM p.Gly205Ser VAR_003431 rs119103251
2 PYGM p.Leu397Pro VAR_003432 rs100568707
3 PYGM p.Lys543Thr VAR_003433 rs119103252
4 PYGM p.Glu655Lys VAR_003434 rs119103253
5 PYGM p.Leu116Pro VAR_014002 rs776680924
6 PYGM p.Arg194Trp VAR_014003 rs376581557
7 PYGM p.Leu292Pro VAR_014004 rs780375860
8 PYGM p.Glu349Lys VAR_014005
9 PYGM p.Thr488Asn VAR_014006
10 PYGM p.Arg602Trp VAR_014007 rs750195683
11 PYGM p.Ala660Asp VAR_014008
12 PYGM p.Gln666Glu VAR_014009 rs119103256
13 PYGM p.Asn685Tyr VAR_014010
14 PYGM p.Gly686Arg VAR_014011 rs144081869
15 PYGM p.Ala687Pro VAR_014012
16 PYGM p.Ala704Val VAR_014013 rs148310231
17 PYGM p.Trp798Arg VAR_014015 rs119103258

ClinVar genetic disease variations for Glycogen Storage Disease V:

6 (show top 50) (show all 297)
# Gene Variation Type Significance SNP ID Assembly Location
1 PYGM PYGM, 1-BP INS, A/8-BP DEL, CODON 387 indel Pathogenic
2 PYGM NM_005609.3(PYGM): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs116987552 GRCh37 Chromosome 11, 64527223: 64527223
3 PYGM NM_005609.3(PYGM): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs116987552 GRCh38 Chromosome 11, 64759751: 64759751
4 PYGM NM_005609.3(PYGM): c.613G> A (p.Gly205Ser) single nucleotide variant Pathogenic rs119103251 GRCh37 Chromosome 11, 64525298: 64525298
5 PYGM NM_005609.3(PYGM): c.613G> A (p.Gly205Ser) single nucleotide variant Pathogenic rs119103251 GRCh38 Chromosome 11, 64757826: 64757826
6 PYGM NM_005609.3(PYGM): c.1628A> C (p.Lys543Thr) single nucleotide variant Pathogenic rs119103252 GRCh37 Chromosome 11, 64519536: 64519536
7 PYGM NM_005609.3(PYGM): c.1628A> C (p.Lys543Thr) single nucleotide variant Pathogenic rs119103252 GRCh38 Chromosome 11, 64752064: 64752064
8 PYGM NM_005609.3(PYGM): c.1963G> A (p.Glu655Lys) single nucleotide variant Pathogenic rs119103253 GRCh37 Chromosome 11, 64518803: 64518803
9 PYGM NM_005609.3(PYGM): c.1963G> A (p.Glu655Lys) single nucleotide variant Pathogenic rs119103253 GRCh38 Chromosome 11, 64751331: 64751331
10 PYGM NM_005609.3(PYGM): c.1996C> G (p.Gln666Glu) single nucleotide variant Pathogenic rs119103256 GRCh37 Chromosome 11, 64518029: 64518029
11 PYGM NM_005609.3(PYGM): c.1996C> G (p.Gln666Glu) single nucleotide variant Pathogenic rs119103256 GRCh38 Chromosome 11, 64750557: 64750557
12 PYGM NM_005609.3(PYGM): c.1187T> C (p.Leu396Pro) single nucleotide variant Pathogenic rs119103254 GRCh37 Chromosome 11, 64521403: 64521403
13 PYGM NM_005609.3(PYGM): c.1187T> C (p.Leu396Pro) single nucleotide variant Pathogenic rs119103254 GRCh38 Chromosome 11, 64753931: 64753931
14 PYGM PYGM, IVS14, G-A, +1 deletion Pathogenic
15 PYGM NM_005609.3(PYGM): c.2056G> A (p.Gly686Arg) single nucleotide variant Likely pathogenic rs144081869 GRCh37 Chromosome 11, 64517969: 64517969
16 PYGM NM_005609.3(PYGM): c.2056G> A (p.Gly686Arg) single nucleotide variant Likely pathogenic rs144081869 GRCh38 Chromosome 11, 64750497: 64750497
17 PYGM NM_005609.2(PYGM): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic/Likely pathogenic rs119103255 GRCh37 Chromosome 11, 64519438: 64519438
18 PYGM NM_005609.2(PYGM): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic/Likely pathogenic rs119103255 GRCh38 Chromosome 11, 64751966: 64751966
19 PYGM NM_005609.3(PYGM): c.1725del (p.Lys575Asnfs) deletion Pathogenic rs786200874 GRCh37 Chromosome 11, 64519439: 64519439
20 PYGM NM_005609.3(PYGM): c.1725del (p.Lys575Asnfs) deletion Pathogenic rs786200874 GRCh38 Chromosome 11, 64751967: 64751967
21 PYGM NM_005609.3(PYGM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs267606993 GRCh37 Chromosome 11, 64527370: 64527370
22 PYGM NM_005609.3(PYGM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs267606993 GRCh38 Chromosome 11, 64759898: 64759898
23 PYGM NM_005609.3(PYGM): c.1621G> T (p.Glu541Ter) single nucleotide variant Pathogenic rs119103257 GRCh37 Chromosome 11, 64519543: 64519543
24 PYGM NM_005609.3(PYGM): c.1621G> T (p.Glu541Ter) single nucleotide variant Pathogenic rs119103257 GRCh38 Chromosome 11, 64752071: 64752071
25 PYGM NM_005609.3(PYGM): c.2392T> C (p.Trp798Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103258 GRCh37 Chromosome 11, 64514268: 64514268
26 PYGM NM_005609.3(PYGM): c.2392T> C (p.Trp798Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103258 GRCh38 Chromosome 11, 64746796: 64746796
27 PYGM NM_005609.3(PYGM): c.1827G> A (p.Lys609=) single nucleotide variant Likely pathogenic rs119103259 GRCh37 Chromosome 11, 64519069: 64519069
28 PYGM NM_005609.3(PYGM): c.1827G> A (p.Lys609=) single nucleotide variant Likely pathogenic rs119103259 GRCh38 Chromosome 11, 64751597: 64751597
29 PYGM NM_005609.3(PYGM): c.1722T> G (p.Tyr574Ter) single nucleotide variant Likely pathogenic rs119103260 GRCh37 Chromosome 11, 64519442: 64519442
30 PYGM NM_005609.3(PYGM): c.1722T> G (p.Tyr574Ter) single nucleotide variant Likely pathogenic rs119103260 GRCh38 Chromosome 11, 64751970: 64751970
31 PYGM NM_005609.2(PYGM): c.425_528del single nucleotide variant Conflicting interpretations of pathogenicity rs764313717 GRCh38 Chromosome 11, 64758375: 64758375
32 PYGM NM_005609.2(PYGM): c.425_528del single nucleotide variant Conflicting interpretations of pathogenicity rs764313717 GRCh37 Chromosome 11, 64525847: 64525847
33 PYGM NM_005609.3(PYGM): c.152A> G (p.Asp51Gly) single nucleotide variant Pathogenic rs397514631 GRCh37 Chromosome 11, 64527219: 64527219
34 PYGM NM_005609.3(PYGM): c.152A> G (p.Asp51Gly) single nucleotide variant Pathogenic rs397514631 GRCh38 Chromosome 11, 64759747: 64759747
35 PYGM PYGM, 3-BP DEL, 158ACT deletion Pathogenic
36 PYGM NM_005609.3(PYGM): c.1240C> G (p.Arg414Gly) single nucleotide variant Benign/Likely benign rs11231866 GRCh37 Chromosome 11, 64521154: 64521154
37 PYGM NM_005609.3(PYGM): c.1240C> G (p.Arg414Gly) single nucleotide variant Benign/Likely benign rs11231866 GRCh38 Chromosome 11, 64753682: 64753682
38 PYGM NM_005609.3(PYGM): c.1366G> A (p.Val456Met) single nucleotide variant Pathogenic/Likely pathogenic rs398124208 GRCh37 Chromosome 11, 64521028: 64521028
39 PYGM NM_005609.3(PYGM): c.1366G> A (p.Val456Met) single nucleotide variant Pathogenic/Likely pathogenic rs398124208 GRCh38 Chromosome 11, 64753556: 64753556
40 PYGM NM_005609.2(PYGM): c.1466C> G (p.Pro489Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398124209 GRCh37 Chromosome 11, 64520597: 64520597
41 PYGM NM_005609.2(PYGM): c.1466C> G (p.Pro489Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398124209 GRCh38 Chromosome 11, 64753125: 64753125
42 PYGM NM_005609.3(PYGM): c.1494C> T (p.Pro498=) single nucleotide variant Benign/Likely benign rs11231865 GRCh37 Chromosome 11, 64520569: 64520569
43 PYGM NM_005609.3(PYGM): c.1494C> T (p.Pro498=) single nucleotide variant Benign/Likely benign rs11231865 GRCh38 Chromosome 11, 64753097: 64753097
44 PYGM NM_005609.3(PYGM): c.1569C> G (p.Leu523=) single nucleotide variant Benign rs114138772 GRCh37 Chromosome 11, 64519926: 64519926
45 PYGM NM_005609.3(PYGM): c.1569C> G (p.Leu523=) single nucleotide variant Benign rs114138772 GRCh38 Chromosome 11, 64752454: 64752454
46 PYGM NM_005609.3(PYGM): c.1827+7A> G single nucleotide variant Benign rs532747 GRCh37 Chromosome 11, 64519062: 64519062
47 PYGM NM_005609.3(PYGM): c.1827+7A> G single nucleotide variant Benign rs532747 GRCh38 Chromosome 11, 64751590: 64751590
48 PYGM NM_005609.3(PYGM): c.1957C> G (p.Leu653Val) single nucleotide variant Uncertain significance rs61736659 GRCh37 Chromosome 11, 64518809: 64518809
49 PYGM NM_005609.3(PYGM): c.1957C> G (p.Leu653Val) single nucleotide variant Uncertain significance rs61736659 GRCh38 Chromosome 11, 64751337: 64751337
50 PYGM NM_005609.3(PYGM): c.2262delA (p.Lys754Asnfs) deletion Pathogenic rs398124210 GRCh37 Chromosome 11, 64514746: 64514746

Expression for Glycogen Storage Disease V

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

Pathways for Glycogen Storage Disease V

Pathways related to Glycogen Storage Disease V according to KEGG:

38
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500
2 Insulin signaling pathway hsa04910

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.2 AMPD1 AMPD3 CHKB CPT2 GAA PFKM
2
Show member pathways
12.31 GAA PFKM PYGL PYGM
3
Show member pathways
12.04 GAA PFKM PYGL PYGM
4
Show member pathways
11.09 CHKB CPT2
5
Show member pathways
11.01 GAA PFKM PYGL PYGM
6 10.88 PYGL PYGM

GO Terms for Glycogen Storage Disease V

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.17 ACTN3 AMPD1 AMPD3 CHKB PFKM PYGL

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.61 GAA PYGL PYGM
2 nucleotide metabolic process GO:0009117 9.46 AMPD1 AMPD3
3 metabolic process GO:0008152 9.46 GAA PFKM PYGL PYGM
4 muscle cell cellular homeostasis GO:0046716 9.4 GAA PFKM
5 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.37 AMPD1 AMPD3
6 purine-containing compound salvage GO:0043101 9.32 AMPD1 AMPD3
7 IMP salvage GO:0032264 9.26 AMPD1 AMPD3
8 glycogen metabolic process GO:0005977 9.13 GAA PYGL PYGM
9 glycogen catabolic process GO:0005980 8.92 GAA PFKM PYGL PYGM

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.88 CHKB CPT2 PFKM PYGL PYGM
2 catalytic activity GO:0003824 9.71 GAA PFKM PYGL PYGM
3 pyridoxal phosphate binding GO:0030170 9.46 PYGL PYGM
4 AMP binding GO:0016208 9.43 PFKM PYGL
5 deaminase activity GO:0019239 9.37 AMPD1 AMPD3
6 phosphorylase activity GO:0004645 9.32 PYGL PYGM
7 AMP deaminase activity GO:0003876 9.26 AMPD1 AMPD3
8 glycogen phosphorylase activity GO:0008184 9.16 PYGL PYGM
9 linear malto-oligosaccharide phosphorylase activity GO:0102250 8.96 PYGL PYGM
10 SHG alpha-glucan phosphorylase activity GO:0102499 8.62 PYGL PYGM

Sources for Glycogen Storage Disease V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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