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GSD5
MCID: GLY004
MIFTS: 62

Glycogen Storage Disease V (GSD5)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Glycogen Storage Disease V

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MalaCards integrated aliases for Glycogen Storage Disease V:

Name: Glycogen Storage Disease V 57 12 72 15
Glycogen Storage Disease Type V 12 73 25 43 58 36 44 70
Myophosphorylase Deficiency 57 12 73 25 20 43 58 72
Mcardle Disease 57 73 25 20 43 58 72 13
Muscle Glycogen Phosphorylase Deficiency 57 25 20 43
Pygm Deficiency 57 25 20 43
Glycogen Storage Disease, Type V 12 29 6
Glycogen Storage Disease Type 5 20 43 58
Gsd V 57 43 72
Mcardle Type Glycogen Storage Disease 20 43
Glycogenosis Type V 25 58
Mcardle's Disease 12 43
Gsd Type V 43 58
Pygmy 57 70
Gsd5 57 72
Glycogen Storage Disease Due to Muscle Glycogen Phosphorylase Deficiency 58
Glycogenosis Due to Muscle Glycogen Phosphorylase Deficiency 58
Gsd Due to Muscle Glycogen Phosphorylase Deficiency 58
Storage Disease, Glycogen, Type V 39
Muscle Phosphorylase Deficiency 43
Glycogen Storage Disease 5 72
Glycogenosis Type 5 58
Mcardle Syndrome 43
Mcardles Disease 54
Pygmy, African 57
Glycogenosis 5 43
Gsd Type 5 58
Gsd 5 20
Gsd-V 72
Gsdv 25

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to muscle glycogen phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM®:

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

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


HPO:

31
glycogen storage disease v:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset

pygmy:
Inheritance autosomal recessive inheritance multifactorial inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Liver diseases Nephrological diseases Blood diseases Muscle diseases Respiratory diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2746
OMIM® 57 232600 265850
KEGG 36 H01943
MeSH 44 D006012
NCIt 50 C84738
SNOMED-CT 67 55912009
ICD10 32 E74.04
MESH via Orphanet 45 C537276 D006012
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 71 C0017924 C2936916
Orphanet 58 ORPHA368
UMLS 70 C0017924 C1849524
Sources

Summaries for Glycogen Storage Disease V

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MedlinePlus Genetics : 43 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.People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Exercise such as weight lifting or jogging usually triggers these symptoms in affected individuals. The discomfort is generally alleviated with rest. If individuals rest after brief exercise and wait for their pain to go away, they can usually resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind").Prolonged or intense exercise can cause muscle damage in people with GSDV. About half of people with GSDV experience breakdown of muscle tissue (rhabdomyolysis). In severe episodes, the destruction of muscle tissue releases a protein called myoglobin, which is filtered through the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, and it is estimated that half of those individuals with GSDV who have myoglobinuria will develop life-threatening kidney failure.The signs and symptoms of GSDV can vary significantly in affected individuals. The features of this condition typically begin in a person's teens or twenties, but they can appear anytime from infancy to adulthood. In most people with GSDV, the muscle weakness worsens over time; however, in about one-third of affected individuals, the muscle weakness is stable. Some people with GSDV experience mild symptoms such as poor stamina; others do not experience any symptoms.

MalaCards based summary : Glycogen Storage Disease V, also known as glycogen storage disease type v, is related to encephalopathy, progressive, early-onset, with episodic rhabdomyolysis and myopathy due to myoadenylate deaminase deficiency. 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 Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and skeletal muscle, and related phenotypes are exercise intolerance and glycogen accumulation in muscle fiber lysosomes

GARD : 20 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.

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Glycogen storage disease type V (GSD-V), also known as McArdle disease, is an autosomal recessive disorder of glycogen metabolism. GSD-V is caused by mutations in the PYGM gene, which encodes muscle glycogen phosphorylase. It is characterized by exercise intolerance, muscle cramping, and myoglobinuria.

UniProtKB/Swiss-Prot : 72 Glycogen storage disease 5: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.

Wikipedia : 73 Glycogen storage disease type V (GSD5, GSD-V), also known as McArdle's disease, is a metabolic disorder,... more...

GeneReviews: NBK1344
Sources

Related Diseases for Glycogen Storage Disease V

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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 244)
# Related Disease Score Top Affiliating Genes
1 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 31.0 RYR1 PFKM CPT2
2 myopathy due to myoadenylate deaminase deficiency 30.8 AMPD3 AMPD1
3 metabolic myopathy 30.7 PGAM2 MB AMPD1
4 myoglobinuria, recurrent 30.7 PYGM CPT2
5 compartment syndrome 30.1 MB CHKB
6 myoglobinuria 30.0 PYGM PHKA1 PGAM2 PFKM MB CPT2
7 neuromuscular disease 29.8 RYR1 MB GAA CHKB AMPD1
8 batten-turner congenital myopathy 29.7 RYR1 PYGM GAA CHKB
9 hypoglycemia 29.6 PYGL GYS1 CPT2 AGL
10 malignant hyperthermia 29.5 RYR1 PYGM MB GYS1 CPT2 AMPD1
11 myositis 29.5 RYR1 MB CHKB
12 carbohydrate metabolic disorder 29.3 PYGM GBE1 GAA AGL
13 muscular dystrophy 29.1 RYR1 MB GAA CHKB ACTN3
14 glycogen storage disease iii 29.1 PYGB GYS1 GBE1 GAA AGL
15 isolated elevated serum creatine phosphokinase levels 28.9 RYR1 PYGM PGAM2 MB GAA CPT2
16 myopathy 28.1 RYR1 PYGM PGAM2 PFKM MB GYS1
17 glycogen storage disease 28.0 PYGM PYGL PHKA1 PGAM2 PFKM MB
18 muscular phosphorylase kinase deficiency 11.1
19 myoglobinuria, acute recurrent, autosomal recessive 11.0
20 glycogen storage disease x 11.0
21 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.7
22 acute kidney failure 10.5
23 autosomal recessive disease 10.4
24 cylindrical spirals myopathy 10.3 PYGM AMPD1
25 glycogen storage disease ix 10.3 PYGL PHKA1
26 glycogen storage disease ixa 10.2 PYGL PHKA1
27 lysosomal glycogen storage disease 10.2 MB GAA
28 glycogen storage disease ii 10.2 PYGM GYS1 GAA
29 insulin-like growth factor i 10.1
30 kidney disease 10.1
31 polymyositis 10.1
32 spondyloarthropathy 10.1
33 seizure disorder 10.1
34 polycystic kidney disease 10.1
35 glycogen storage disease type 0 10.1 GYS1 AGL
36 central core disease of muscle 10.1 RYR1 GAA
37 creatine phosphokinase, elevated serum 10.1 MB GAA CHKB
38 multiple acyl-coa dehydrogenase deficiency 10.0
39 gout 10.0
40 lactic acidosis 10.0
41 glycogen storage disease, type ixd 10.0 PYGL PHKA1 AGL
42 salmonellosis 10.0
43 sarcoma 10.0
44 spindle cell sarcoma 10.0
45 dwarfism 10.0
46 glycogen storage disease ixb 10.0 PYGL PHKA1 AGL
47 muscle hypertrophy 10.0
48 chromosomal triplication 10.0
49 pattern dystrophy 10.0
50 carnitine palmitoyltransferase i deficiency 10.0 CPT2 BLOC1S1

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



Diseases related to Glycogen Storage Disease V
Sources

Symptoms & Phenotypes for Glycogen Storage Disease V

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Human phenotypes related to Glycogen Storage Disease V:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exercise intolerance 58 31 hallmark (90%) Very frequent (99-80%) HP:0003546
2 glycogen accumulation in muscle fiber lysosomes 58 31 hallmark (90%) Very frequent (99-80%) HP:0030231
3 highly elevated creatine kinase 31 hallmark (90%) HP:0030234
4 dark urine 58 31 frequent (33%) Frequent (79-30%) HP:0040319
5 rhabdomyolysis 58 31 frequent (33%) Frequent (79-30%) HP:0003201
6 exercise-induced muscle cramps 58 31 frequent (33%) Frequent (79-30%) HP:0003710
7 exercise-induced myoglobinuria 58 31 frequent (33%) Frequent (79-30%) HP:0008305
8 recurrent myoglobinuria 58 31 frequent (33%) Frequent (79-30%) HP:0003652
9 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
10 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
11 progressive proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009073
12 tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001649
13 exertional dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002875
14 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
15 exercise-induced myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003738
16 exercise-induced muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008967
17 postexertional malaise 58 31 occasional (7.5%) Occasional (29-5%) HP:0030973
18 dysphagia 58 31 very rare (1%) Very rare (<4-1%) HP:0002015
19 muscle weakness 58 31 very rare (1%) Occasional (29-5%) HP:0001324
20 elevated serum creatine kinase 58 31 very rare (1%) Very frequent (99-80%) HP:0003236
21 impaired mastication 58 31 very rare (1%) Very rare (<4-1%) HP:0005216
22 chronic kidney disease 58 31 very rare (1%) Very rare (<4-1%) HP:0012622
23 myoglobinuria 31 very rare (1%) HP:0002913
24 short stature 31 HP:0004322
25 fatigue 58 Occasional (29-5%)
26 increased muscle glycogen content 58 Very frequent (99-80%)
27 abnormality of the endocrine system 31 HP:0000818
28 abnormality of metabolism/homeostasis 31 HP:0001939
29 highly elevated creatine phosphokinase 58 Very frequent (99-80%)
30 exercise-induced rhabdomyolysis 31 HP:0009045

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
rhabdomyolysis
skeletal muscle weakness
decreased exercise capacity
muscle pain and cramps following exercise

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

Genitourinary Kidneys:
myoglobinuria
dark urine following exercise

Clinical features from OMIM®:

232600 265850 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.66 CHKB PFKM
2 Decreased viability GR00221-A-2 9.66 CHKB CPT2 PFKM PHKA1
3 Decreased viability GR00221-A-3 9.66 CHKB PFKM PHKA1
4 Decreased viability GR00221-A-4 9.66 CHKB CPT2
5 Decreased viability GR00249-S 9.66 AGL AMPD1 PYGM RYR1
6 Decreased viability GR00301-A 9.66 CHKB
7 Decreased viability GR00381-A-1 9.66 MYOZ3
8 Decreased viability GR00386-A-1 9.66 AGL BLOC1S1 GYS1 MB
9 Decreased viability GR00402-S-2 9.66 CPT2

MGI Mouse Phenotypes related to Glycogen Storage Disease V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 AGL AMPD1 AMPD3 BLOC1S1 CHKB CPT2
2 cardiovascular system MP:0005385 9.96 AGL AMPD1 CPT2 GAA GBE1 GYS1
3 muscle MP:0005369 9.7 AGL AMPD1 CHKB GAA GBE1 GYS1
4 respiratory system MP:0005388 9.17 AGL AMPD3 CPT2 GBE1 GYS1 MB
Sources

Drugs & Therapeutics for Glycogen Storage Disease V

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2 Psychotropic Drugs Phase 2
3 Anticonvulsants Phase 2
4 Neurotransmitter Agents Phase 2
5
tannic acid Approved 1401-55-4
6
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
7 Pharmaceutical Solutions

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 The Effect of Triheptanoin in Adults With Mc Ardle Disease (Glycogen Storage Disease Type V) Unknown status NCT02919631 Phase 2 Triheptanoin;Placebo oil
2 A Phase II Pilot Study to Explore Treatment With Sodium Valproate in Adults With McArdle Disease (Glycogen Storage Disorder Type V, GSDV) Completed NCT03112889 Phase 2 Sodium Valproate
3 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) Completed NCT02432768 Phase 2 Triheptanoin
4 A Phase 1b, Open-label Study to Evaluate the Safety and Tolerability of 12 Weeks Treatment With Oral REN001 in Patients With McArdle Disease (Glycogen Storage Disorder 5) Recruiting NCT04226274 Phase 1 REN001
5 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Unknown status NCT03211923
6 Modified Ketogenic Diet in Patients With McArdle Disease Part A - a Pilot Study Completed NCT03843606
7 Oral Ketone Body Supplementation in Patients With McArdle Disease Completed NCT03945370
8 MRI in McArdle Disease (Glycogen Storage Disease Type V) Recruiting NCT03844022
9 Odified Ketogenic Diet in Patients With McArdle Disease Part B - a Placebo-controlled, Cross-over Study Recruiting NCT04044508
10 Ketogenic Diet in McArdle Disease: a Multicentric Single Blind Controlled Trial Recruiting NCT04292938
11 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269
12 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162
13 Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases Enrolling by invitation NCT04349566
14 Ketogenic Diet Survey in GSDV Not yet recruiting NCT04694547

Search NIH Clinical Center for Glycogen Storage Disease V

Cochrane evidence based reviews: glycogen storage disease type v

Sources

Genetic Tests for Glycogen Storage Disease V

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Genetic tests related to Glycogen Storage Disease V:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type V 29 PYGM
Sources

Anatomical Context for Glycogen Storage Disease V

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MalaCards organs/tissues related to Glycogen Storage Disease V:

40
Liver, Kidney, Skeletal Muscle, Heart, Bone, Breast, Skin
Sources

Publications for Glycogen Storage Disease V

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Articles related to Glycogen Storage Disease V:

(show top 50) (show all 277)
# Title Authors PMID Year
1
Do carriers of PYGM mutations have symptoms of McArdle disease? 54 25 57 6
16924035 2006
2
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. 57 6 25
19251976 2009
3
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). 57 6 54 61
8316268 1993
4
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. 6 57 54
11168025 2001
5
Dominant inheritance of McArdle syndrome. 6 57 61
1067063 1976
6
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern. 6 57
21880526 2011
7
McArdle's disease: two clinical expressions in the same pedigree. 57 6
2391551 1990
8
McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote. 6 57
3476861 1987
9
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. 25 6
29143597 2017
10
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease. 6 25
26913921 2016
11
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. 6 25
25914343 2015
12
Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V. 6 25
25740218 2015
13
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. 6 25
22250184 2012
14
Increased PFK activity and GLUT4 protein content in McArdle's disease. 54 6 61
18067156 2008
15
Genotype modulators of clinical severity in McArdle disease. 54 61 6
17630210 2007
16
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. 6 61 54
17404776 2007
17
Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation. 54 6 61
17324573 2007
18
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. 61 54 6
17221871 2007
19
Muscle pain in myophosphorylase deficiency (McArdle's disease): the role of gender, genotype, and pain-related coping. 6 61 54
16793208 2006
20
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease. 6 54 61
14748827 2004
21
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. 6 61 54
14568816 2003
22
Phenotype modulators in myophosphorylase deficiency. 54 57 61
12666117 2003
23
Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. 6 61 54
11706962 2001
24
Molecular characterization of McArdle's disease in two large Finnish families. 61 6 54
10450796 1999
25
Molecular genetic analysis of McArdle's disease in Spanish patients. 61 6 54
9674815 1998
26
Mutation analysis in myophosphorylase deficiency (McArdle's disease). 61 6 54
9506549 1998
27
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency. 6 61 54
9131647 1997
28
Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy. 61 54 6
9120482 1996
29
Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation. 61 54 6
7664468 1995
30
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). 54 61 6
8535454 1995
31
Three new mutations in patients with myophosphorylase deficiency (McArdle disease). 61 54 6
8279469 1994
32
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). 61 6 54
7951262 1994
33
Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency. 54 61 57
8408630 1993
34
Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease). 6 61
21658951 2011
35
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. 54 57
19433441 2009
36
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease. 54 6
19472443 2009
37
Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease? 54 6
19232494 2009
38
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. 6 54
17994553 2008
39
McArdle disease: another systemic low-inflammation disorder? 6 54
18162322 2008
40
High frequency of missense mutations in glycogen storage disease type VI. 6 54
17705025 2007
41
Novel mutation in the PYGM gene resulting in McArdle disease. 6 54
17172620 2006
42
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. 6 54
16786513 2006
43
Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene. 6 54
16154688 2005
44
Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease. 6 54
12929201 2003
45
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 6 61
12031624 2002
46
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 61 6
10681080 2000
47
A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. 54 6
10590419 2000
48
McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. 54 6
8401511 1993
49
Absence of biochemical heterogeneity in McArdle's disease. A high resolution SDS-polyacrylamide gel electrophoresis study. 57 61
3471865 1987
50
Myophosphorylase deficiency: the course of an unusual congenital myopathy. 57 61
3808314 1987
Sources

Variations for Glycogen Storage Disease V

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ClinVar genetic disease variations for Glycogen Storage Disease V:

6 (show top 50) (show all 322)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PYGM NM_005609.4(PYGM):c.13_14del (p.Leu5fs) Deletion Pathogenic 371064 rs772194378 GRCh37: 11:64527357-64527358
GRCh38: 11:64759885-64759886
2 PYGM NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) SNV Pathogenic 2302 rs119103253 GRCh37: 11:64518803-64518803
GRCh38: 11:64751331-64751331
3 PYGM NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) SNV Pathogenic 2303 rs119103256 GRCh37: 11:64518029-64518029
GRCh38: 11:64750557-64750557
4 PYGM NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro) SNV Pathogenic 2304 rs119103254 GRCh37: 11:64521403-64521403
GRCh38: 11:64753931-64753931
5 PYGM PYGM, IVS14, G-A, +1 Deletion Pathogenic 2305 GRCh37:
GRCh38:
6 PYGM NM_005609.4(PYGM):c.1725del (p.Lys575fs) Deletion Pathogenic 2308 rs786200874 GRCh37: 11:64519439-64519439
GRCh38: 11:64751967-64751967
7 PYGM NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter) SNV Pathogenic 2310 rs119103257 GRCh37: 11:64519543-64519543
GRCh38: 11:64752071-64752071
8 PYGM PYGM, 1-BP INS, A/8-BP DEL, CODON 387 Indel Pathogenic 2311 GRCh37:
GRCh38:
9 PYGM NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) SNV Pathogenic 40042 rs397514631 GRCh37: 11:64527219-64527219
GRCh38: 11:64759747-64759747
10 PYGM NM_005609.4(PYGM):c.1A>C (p.Met1Leu) SNV Pathogenic 156341 rs267606993 GRCh37: 11:64527370-64527370
GRCh38: 11:64759898-64759898
11 PYGM NM_005609.4(PYGM):c.1A>T (p.Met1Leu) SNV Pathogenic 553271 rs267606993 GRCh37: 11:64527370-64527370
GRCh38: 11:64759898-64759898
12 PYGM NM_005609.4(PYGM):c.2380-1G>A SNV Pathogenic 553507 rs1555133248 GRCh37: 11:64514281-64514281
GRCh38: 11:64746809-64746809
13 PYGM NM_005609.4(PYGM):c.1239+1G>A SNV Pathogenic 569514 rs759657964 GRCh37: 11:64521350-64521350
GRCh38: 11:64753878-64753878
14 PYGM NM_005609.4(PYGM):c.395_408del (p.Leu132fs) Deletion Pathogenic 591687 rs1565538121 GRCh37: 11:64525925-64525938
GRCh38: 11:64758453-64758466
15 PYGM NC_000011.10:g.(?_64750366)_(64750593_?)del Deletion Pathogenic 830781 GRCh37: 11:64517838-64518065
GRCh38:
16 PYGM NC_000011.10:g.(?_64750356)_(64750603_?)del Deletion Pathogenic 831897 GRCh37: 11:64517828-64518075
GRCh38:
17 PYGM NC_000011.10:g.(?_64758226)_(64758724_?)del Deletion Pathogenic 833280 GRCh37: 11:64525698-64526196
GRCh38:
18 PYGM NM_005609.4(PYGM):c.129_150del (p.Asp43fs) Deletion Pathogenic 848029 GRCh37: 11:64527221-64527242
GRCh38: 11:64759749-64759770
19 PYGM NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs) Deletion Pathogenic 857352 GRCh37: 11:64519949-64519950
GRCh38: 11:64752477-64752478
20 PYGM NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter) SNV Pathogenic 857820 GRCh37: 11:64519507-64519507
GRCh38: 11:64752035-64752035
21 PYGM NM_005609.4(PYGM):c.682del (p.Asp228fs) Deletion Pathogenic 861525 GRCh37: 11:64523009-64523009
GRCh38: 11:64755537-64755537
22 PYGM NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) Deletion Pathogenic 802681 rs1592408302 GRCh37: 11:64517949-64517950
GRCh38: 11:64750477-64750478
23 PYGM NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) SNV Pathogenic 456518 rs370247862 GRCh37: 11:64526140-64526140
GRCh38: 11:64758668-64758668
24 PYGM NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter) SNV Pathogenic 650465 rs1592410003 GRCh37: 11:64519934-64519934
GRCh38: 11:64752462-64752462
25 PYGM NM_005609.4(PYGM):c.2111C>T (p.Ala704Val) SNV Pathogenic 935807 GRCh37: 11:64517914-64517914
GRCh38: 11:64750442-64750442
26 PYGM NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter) SNV Pathogenic 941671 GRCh37: 11:64514809-64514809
GRCh38: 11:64747337-64747337
27 PYGM NM_005609.4(PYGM):c.1531del (p.Asp511fs) Deletion Pathogenic 944242 GRCh37: 11:64519964-64519964
GRCh38: 11:64752492-64752492
28 PYGM NM_005609.4(PYGM):c.164_168del (p.Ala55fs) Deletion Pathogenic 945649 GRCh37: 11:64527203-64527207
GRCh38: 11:64759731-64759735
29 PYGM NM_005609.4(PYGM):c.1477del (p.Leu493fs) Deletion Pathogenic 960283 GRCh37: 11:64520586-64520586
GRCh38: 11:64753114-64753114
30 PYGM NM_005609.4(PYGM):c.1948del (p.Arg650fs) Deletion Pathogenic 965127 GRCh37: 11:64518818-64518818
GRCh38: 11:64751346-64751346
31 PYGM NM_005609.4(PYGM):c.112_122del (p.Phe38fs) Deletion Pathogenic 969160 GRCh37: 11:64527249-64527259
GRCh38: 11:64759777-64759787
32 PYGM NM_005609.4(PYGM):c.521dup (p.Trp175fs) Duplication Pathogenic 844539 GRCh37: 11:64525724-64525725
GRCh38: 11:64758252-64758253
33 PYGM NM_005609.4(PYGM):c.2181dup (p.Asn728fs) Duplication Pathogenic 949080 GRCh37: 11:64514826-64514827
GRCh38: 11:64747354-64747355
34 PYGM NM_005609.4(PYGM):c.2255_2264dup (p.Gln755fs) Duplication Pathogenic 950678 GRCh37: 11:64514743-64514744
GRCh38: 11:64747271-64747272
35 PYGM NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs) Indel Pathogenic 967512 GRCh37: 11:64521421-64521428
GRCh38: 11:64753949-64753956
36 PYGM NM_005609.4(PYGM):c.2259dup (p.Lys754fs) Duplication Pathogenic 970522 GRCh37: 11:64514748-64514749
GRCh38: 11:64747276-64747277
37 PYGM NM_005609.4(PYGM):c.152_154ACT[2] (p.Tyr53del) Microsatellite Pathogenic 40043 rs1325298827 GRCh37: 11:64527211-64527213
GRCh38: 11:64759739-64759741
38 PYGM NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) Duplication Pathogenic 582100 rs770037766 GRCh37: 11:64527342-64527343
GRCh38: 11:64759870-64759871
39 PYGM NM_005609.4(PYGM):c.2335G>T (p.Glu779Ter) SNV Pathogenic 1033016 GRCh37: 11:64514437-64514437
GRCh38: 11:64746965-64746965
40 PYGM NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) SNV Pathogenic 2298 rs116987552 GRCh37: 11:64527223-64527223
GRCh38: 11:64759751-64759751
41 PYGM NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) SNV Pathogenic 2299 rs119103251 GRCh37: 11:64525298-64525298
GRCh38: 11:64757826-64757826
42 PYGM NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) SNV Pathogenic 433147 rs114073621 GRCh37: 11:64518818-64518818
GRCh38: 11:64751346-64751346
43 PYGM NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) SNV Pathogenic 526617 rs119103258 GRCh37: 11:64514268-64514268
GRCh38: 11:64746796-64746796
44 PYGM NM_005609.4(PYGM):c.1768+1G>A SNV Pathogenic 194389 rs771427957 GRCh37: 11:64519395-64519395
GRCh38: 11:64751923-64751923
45 PYGM NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) SNV Pathogenic/Likely pathogenic 2307 rs119103255 GRCh37: 11:64519438-64519438
GRCh38: 11:64751966-64751966
46 PYGM NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) SNV Pathogenic/Likely pathogenic 2312 rs119103258 GRCh37: 11:64514268-64514268
GRCh38: 11:64746796-64746796
47 PYGM NM_005609.4(PYGM):c.1827G>A (p.Lys609=) SNV Pathogenic/Likely pathogenic 2313 rs119103259 GRCh37: 11:64519069-64519069
GRCh38: 11:64751597-64751597
48 PYGM NM_005609.4(PYGM):c.2125_2127TTC[1] (p.Phe710del) Microsatellite Pathogenic/Likely pathogenic 139609 rs527236147 GRCh37: 11:64517895-64517897
GRCh38: 11:64750423-64750425
49 PYGM NM_005609.4(PYGM):c.2262del (p.Lys754fs) Deletion Pathogenic/Likely pathogenic 95296 rs398124210 GRCh37: 11:64514746-64514746
GRCh38: 11:64747274-64747274
50 PYGM NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) SNV Pathogenic/Likely pathogenic 188824 rs767739769 GRCh37: 11:64522792-64522792
GRCh38: 11:64755320-64755320

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

72 (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 rs155513490
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

Sources

Expression for Glycogen Storage Disease V

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

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Pathways related to Glycogen Storage Disease V according to KEGG:

36
# 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
Metabolism 65
Show member pathways
 13.87 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
2
Glycosaminoglycan metabolism 65
Show member pathways
 12.77 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
3
Regulation of lipid metabolism Insulin signaling-generic cascades 23
Show member pathways
 12.56 PYGM PYGL PYGB PHKA1 GYS1
4
Glucose metabolism 65
Show member pathways
 12.49 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
5
Glucagon signaling pathway 36
11.83 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
6
Insulin resistance 36
Show member pathways
 11.75 PYGM PYGL PYGB GYS1
7
Galactose metabolism 36 23
Show member pathways
 11.64 PYGM PYGL PYGB PFKM GYS1 GBE1
8
Glycogen Metabolism 1
10.72 PYGM PYGL PYGB PHKA1 GYS1 GBE1
Sources

GO Terms for Glycogen Storage Disease V

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.61 RYR1 PYGM PYGL PYGB PGAM2 MB
2 Z disc GO:0030018 9.5 RYR1 MYOZ3 ACTN3
3 cytosol GO:0005829 9.47 PYGM PYGL PHKA1 PGAM2 PFKM MB
4 ficolin-1-rich granule lumen GO:1904813 9.43 PYGL AMPD3 AGL
5 inclusion body GO:0016234 9.37 GYS1 AGL
6 secretory granule lumen GO:0034774 9.33 PYGL AMPD3 AGL

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 PYGL PYGB GAA AMPD3 AGL
2 carbohydrate metabolic process GO:0005975 9.8 PYGM PYGL PYGB PHKA1 GBE1 GAA
3 metabolic process GO:0008152 9.7 PYGM PYGL PYGB PFKM GYS1 GAA
4 canonical glycolysis GO:0061621 9.54 PGAM2 PFKM
5 muscle cell cellular homeostasis GO:0046716 9.52 PFKM GAA
6 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.51 AMPD3 AMPD1
7 glycogen biosynthetic process GO:0005978 9.5 GYS1 GBE1 AGL
8 glycogen catabolic process GO:0005980 9.5 PYGM PYGL PYGB PHKA1 PFKM GAA
9 striated muscle contraction GO:0006941 9.49 PGAM2 GAA
10 purine-containing compound salvage GO:0043101 9.48 AMPD3 AMPD1
11 AMP metabolic process GO:0046033 9.43 AMPD3 AMPD1
12 IMP salvage GO:0032264 9.4 AMPD3 AMPD1
13 IMP biosynthetic process GO:0006188 9.37 AMPD3 AMPD1
14 glycogen metabolic process GO:0005977 9.23 PYGM PYGL PYGB PHKA1 GYS1 GBE1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.09 PYGM PYGL PYGB PFKM GYS1 GBE1
2 transferase activity, transferring glycosyl groups GO:0016757 9.85 PYGM PYGL PYGB GYS1 GBE1 AGL
3 carbohydrate binding GO:0030246 9.8 PYGL GBE1 GAA AGL
4 pyridoxal phosphate binding GO:0030170 9.63 PYGM PYGL PYGB
5 AMP binding GO:0016208 9.52 PYGL PFKM
6 glucose binding GO:0005536 9.51 PYGL GYS1
7 phosphorylase activity GO:0004645 9.5 PYGM PYGL PYGB
8 deaminase activity GO:0019239 9.48 AMPD3 AMPD1
9 SHG alpha-glucan phosphorylase activity GO:0102499 9.43 PYGM PYGL PYGB
10 AMP deaminase activity GO:0003876 9.4 AMPD3 AMPD1
11 linear malto-oligosaccharide phosphorylase activity GO:0102250 9.33 PYGM PYGL PYGB
12 catalytic activity GO:0003824 9.32 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
13 glycogen phosphorylase activity GO:0008184 9.13 PYGM PYGL PYGB
Sources

Sources for Glycogen Storage Disease V

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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