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

Aliases & Classifications for Glycogen Storage Disease V

MalaCards integrated aliases for Glycogen Storage Disease V:

Name: Glycogen Storage Disease V 56 12 73 15
Glycogen Storage Disease Type V 12 74 24 25 58 36 43 71
Myophosphorylase Deficiency 56 12 74 24 52 25 58 73
Mcardle Disease 56 74 24 52 25 58 73 13
Muscle Glycogen Phosphorylase Deficiency 56 24 52 25
Pygm Deficiency 56 24 52 25
Glycogen Storage Disease, Type V 12 29 6
Glycogen Storage Disease Type 5 52 25 58
Gsd V 56 25 73
Mcardle Type Glycogen Storage Disease 52 25
Glycogenosis Type V 24 58
Mcardle's Disease 12 25
Gsd Type V 25 58
Pygmy 56 71
Gsd5 56 73
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 25
Glycogen Storage Disease 5 73
Glycogenosis Type 5 58
Mcardle Syndrome 25
Mcardles Disease 54
Pygmy, African 56
Glycogenosis 5 25
Gsd Type 5 58
Gsd 5 52
Gsd-V 73
Gsdv 24

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:

56
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


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2746
KEGG 36 H01943
MeSH 43 D006012
NCIt 49 C84738
SNOMED-CT 67 55912009
ICD10 32 E74.04
MESH via Orphanet 44 C537276 D006012
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 72 C0017924 C2936916
Orphanet 58 ORPHA368
UMLS 71 C0017924 C1849524

Summaries for Glycogen Storage Disease V

Genetics Home Reference : 25 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 myoglobinuria, recurrent. 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 kidney, skeletal muscle and testes, and related phenotypes are exercise intolerance and glycogen accumulation in muscle fiber lysosomes

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 Glycogen storage disease 5: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.

Wikipedia : 74 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 278)
# Related Disease Score Top Affiliating Genes
1 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 31.0 PFKM MB CPT2 CHKB
2 myoglobinuria, recurrent 31.0 PYGM CPT2
3 myopathy due to myoadenylate deaminase deficiency 31.0 AMPD3 AMPD1
4 metabolic myopathy 30.8 PGAM2 MB AMPD1
5 multiple acyl-coa dehydrogenase deficiency 30.5 PYGM CPT2 AMPD1
6 carbohydrate metabolic disorder 29.9 PYGM GAA AGL
7 atrial standstill 1 29.9 GAA CPT2 AGL
8 muscular disease 29.8 RYR1 MB GAA
9 myoglobinuria 29.7 PYGM PHKA1 PGAM2 PFKM MB CPT2
10 myopathy, congenital 29.7 RYR1 PYGM GAA CHKB
11 glycogen storage disease iii 29.5 PYGB GYS1 GAA AGL
12 hypoglycemia 29.4 PYGL GYS1 CPT2 AGL
13 myositis 29.3 RYR1 MB CHKB
14 malignant hyperthermia susceptibility 29.3 RYR1 CACNA1S
15 muscular dystrophy 29.0 RYR1 PYGM MB GAA CHKB ACTN3
16 neuromuscular disease 28.8 RYR1 MB GAA CHKB CACNA1S AMPD1
17 isolated elevated serum creatine phosphokinase levels 28.6 RYR1 PYGM PGAM2 MB GAA CPT2
18 glycogen storage disease vii 28.6 PYGM PGAM2 PFKM MYOZ3 AMPD3 AMPD1
19 malignant hyperthermia 28.4 RYR1 PYGM MB GYS1 CPT2 CACNA1S
20 glycogen storage disease 27.7 PYGM PYGL PHKA1 PGAM2 PFKM MB
21 myopathy 27.1 RYR1 PYGM PGAM2 PFKM MB GYS1
22 muscular phosphorylase kinase deficiency 11.3
23 myoglobinuria, acute recurrent, autosomal recessive 11.2
24 glycogen storage disease x 11.2
25 acute kidney failure 10.6
26 autosomal recessive disease 10.4
27 insulin-like growth factor i 10.3
28 glycogen storage disease ix 10.3 PYGL PHKA1
29 glycogen storage disease viii 10.3 PYGB PHKA1
30 glycogen storage disease ixa 10.3 PYGL PHKA1
31 kidney disease 10.3
32 lysosomal glycogen storage disease 10.3 MB GAA
33 yaws 10.2
34 dwarfism 10.2
35 polycystic kidney disease 10.2
36 carnitine palmitoyltransferase i deficiency 10.1 CPT2 BLOC1S1
37 muscle hypertrophy 10.1
38 compartment syndrome 10.1
39 chromosomal triplication 10.1
40 pattern dystrophy 10.1
41 salmonellosis 10.1
42 dermatitis 10.1
43 creatine phosphokinase, elevated serum 10.1 MB GAA CHKB
44 gout 10.1
45 lactic acidosis 10.1
46 spondyloarthropathy 10.1
47 visual epilepsy 10.1
48 polymyositis 10.1
49 seizure disorder 10.1
50 tooth size 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:

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 myoglobinuria 58 31 frequent (33%) Frequent (79-30%) HP:0008305
7 exercise-induced muscle cramps 58 31 frequent (33%) Frequent (79-30%) HP:0003710
8 recurrent myoglobinuria 58 31 frequent (33%) Frequent (79-30%) HP:0003652
9 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
10 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
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 muscle weakness 58 31 very rare (1%) Occasional (29-5%) HP:0001324
19 dysphagia 58 31 very rare (1%) Very rare (<4-1%) HP:0002015
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 abnormality of metabolism/homeostasis 31 HP:0001939
27 increased muscle glycogen content 58 Very frequent (99-80%)
28 abnormality of the endocrine system 31 HP:0000818
29 highly elevated creatine phosphokinase 58 Very frequent (99-80%)
30 exercise-induced rhabdomyolysis 31 HP:0009045

Symptoms via clinical synopsis from OMIM:

56
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

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 9.68 CHKB PFKM
2 Decreased viability GR00221-A-2 9.68 CHKB CPT2 PFKM PHKA1
3 Decreased viability GR00221-A-3 9.68 CHKB PFKM PHKA1
4 Decreased viability GR00221-A-4 9.68 CHKB CPT2
5 Decreased viability GR00249-S 9.68 AGL AMPD1 PYGM RYR1
6 Decreased viability GR00301-A 9.68 CHKB
7 Decreased viability GR00381-A-1 9.68 MYOZ3
8 Decreased viability GR00386-A-1 9.68 AGL BLOC1S1 CACNA1S GYS1 MB
9 Decreased viability GR00402-S-2 9.68 CPT2

MGI Mouse Phenotypes related to Glycogen Storage Disease V:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 AGL AMPD1 AMPD3 BLOC1S1 CACNA1S CHKB
2 muscle MP:0005369 9.7 AGL AMPD1 CACNA1S CHKB GAA GYS1
3 respiratory system MP:0005388 9.17 AGL AMPD3 CACNA1S CPT2 GYS1 MB

Drugs & Therapeutics for Glycogen Storage Disease V

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

(show all 8)
# 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 Neurotransmitter Agents Phase 2
4 Anticonvulsants Phase 2
5
Zinc Approved, Investigational 7440-66-6 32051
6
tannic acid Approved 1401-55-4
7
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
8 Pharmaceutical Solutions

Interventional clinical trials:

(show all 16)
# 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 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
5 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation to Manage or Treat Muscular Dystrophies. Unknown status NCT00674843 Phase 1
6 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
7 Modified Ketogenic Diet in Patients With McArdle Disease Part A - a Pilot Study Completed NCT03843606
8 Prevalence of a Non-Expressing 11B Mutation in Aka Peoples of the Central African Republic Completed NCT00340769
9 MRI in McArdle Disease (Glycogen Storage Disease Type V) Recruiting NCT03844022
10 Ketogenic Diet in McArdle Disease: a Multicentric Single Blind Controlled Trial Recruiting NCT04292938
11 Odified Ketogenic Diet in Patients With McArdle Disease Part B - a Placebo-controlled, Cross-over Study Recruiting NCT04044508
12 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162
13 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269
14 Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases Enrolling by invitation NCT04349566
15 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Enrolling by invitation NCT03211923
16 Oral Ketone Body Supplementation in Patients With McArdle Disease Not yet recruiting NCT03945370

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 29 PYGM

Anatomical Context for Glycogen Storage Disease V

MalaCards organs/tissues related to Glycogen Storage Disease V:

40
Kidney, Skeletal Muscle, Testes, Heart, Brain

Publications for Glycogen Storage Disease V

Articles related to Glycogen Storage Disease V:

(show top 50) (show all 254)
# Title Authors PMID Year
1
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). 56 61 6 54
8316268 1993
2
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. 54 6 56
11168025 2001
3
Dominant inheritance of McArdle syndrome. 6 56 61
1067063 1976
4
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern. 56 6
21880526 2011
5
Do carriers of PYGM mutations have symptoms of McArdle disease? 54 24 56
16924035 2006
6
McArdle's disease: two clinical expressions in the same pedigree. 6 56
2391551 1990
7
McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote. 56 6
3476861 1987
8
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. 24 56
19251976 2009
9
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease. 6 54 61
14748827 2004
10
Phenotype modulators in myophosphorylase deficiency. 61 56 54
12666117 2003
11
Molecular characterization of McArdle's disease in two large Finnish families. 6 54 61
10450796 1999
12
Mutation analysis in myophosphorylase deficiency (McArdle's disease). 6 61 54
9506549 1998
13
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). 61 54 6
8535454 1995
14
Three new mutations in patients with myophosphorylase deficiency (McArdle disease). 61 54 6
8279469 1994
15
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). 61 54 6
7951262 1994
16
Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency. 54 56 61
8408630 1993
17
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. 56 54
19433441 2009
18
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 6 61
10681080 2000
19
McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. 6 54
8401511 1993
20
Absence of biochemical heterogeneity in McArdle's disease. A high resolution SDS-polyacrylamide gel electrophoresis study. 61 56
3471865 1987
21
Myophosphorylase deficiency: the course of an unusual congenital myopathy. 56 61
3808314 1987
22
Acute renal failure in McArdle's disease. 61 56
3467218 1986
23
Low muscle levels of pyridoxine in McArdle's syndrome. 61 56
6572033 1983
24
Phosphorylation of McArdle phosphorylase induces activity. 56 61
6265901 1981
25
A new variant of late-onset myophosphorylase deficiency. 61 56
6929403 1980
26
Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. 61 56
291791 1979
27
Clinical utility gene card for McArdle disease. 61 24
29371640 2018
28
Unforeseen cardiac involvement in McArdle's disease. 61 24
23337261 2013
29
Fat metabolism during exercise in patients with McArdle disease. 56
19237700 2009
30
McArdle disease: molecular genetic update. 6
17915571 2007
31
Glycogen Storage Disease Type V 6
20301518 2006
32
The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. 56
14695410 2003
33
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease. 6
14638972 2003
34
A nonischemic forearm exercise test for McArdle disease. 56
12210784 2002
35
Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. 6
9152836 1997
36
Fatal infantile muscle phosphorylase deficiency. 56
2768781 1989
37
McArdle disease in a Druze family. 6
2703328 1989
38
McArdle's disease: biochemical and molecular genetic studies. 56
3207360 1988
39
Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis. 56
3466902 1987
40
The second wind phenomenon in McArdle's disease. 56
3466659 1986
41
McArdle's disease heterozygotes. Metabolic adaptation assessed using 31P-nuclear magnetic resonance. 56
3458722 1986
42
Myopathy in McArdle's syndrome. Improvement with a high-protein diet. 56
3855499 1985
43
Research on molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). Use of new protein mapping and immunological techniques. 56
6797345 1981
44
Examination of a case of suspected McArdle's syndrome by 31P nuclear magnetic resonance. 56
6938778 1981
45
Fatal infantile form of muscle phosphorylase deficiency. 56
101896 1978
46
Acute renal failure in McArdle's disease. Report of two cases. 56
4502558 1972
47
McArdle's disease: lack of muscle phosphorylase. 56
5243846 1968
48
The clinical diagnosis of McArdle's disease. Identification of another family with deficiency of muscle phosphorylase. 56
5215287 1966
49
Glycogenic myopathy. A case of skeletal muscle-glycogenosis in twins. 56
4232619 1965
50
Glycogen storage disease of the muscles. Report of a case with unusual features. 56
13886062 1962

Variations for Glycogen Storage Disease V

ClinVar genetic disease variations for Glycogen Storage Disease V:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PYGM NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)SNV Pathogenic 456518 rs370247862 11:64526140-64526140 11:64758668-64758668
2 PYGM NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)SNV Pathogenic 433147 rs114073621 11:64518818-64518818 11:64751346-64751346
3 PYGM NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)SNV Pathogenic 526617 rs119103258 11:64514268-64514268 11:64746796-64746796
4 PYGM NM_005609.4(PYGM):c.2380-1G>ASNV Pathogenic 553507 rs1555133248 11:64514281-64514281 11:64746809-64746809
5 PYGM NM_005609.4(PYGM):c.1A>T (p.Met1Leu)SNV Pathogenic 553271 rs267606993 11:64527370-64527370 11:64759898-64759898
6 PYGM NM_005609.4(PYGM):c.1239+1G>ASNV Pathogenic 569514 rs759657964 11:64521350-64521350 11:64753878-64753878
7 PYGM NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)duplication Pathogenic 582100 rs770037766 11:64527342-64527343 11:64759870-64759871
8 PYGM NM_005609.4(PYGM):c.395_408del (p.Leu132fs)deletion Pathogenic 591687 rs1565538121 11:64525925-64525938 11:64758453-64758466
9 PYGM NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter)SNV Pathogenic 650465 11:64519934-64519934 11:64752462-64752462
10 PYGM NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs)deletion Pathogenic 802681 11:64517949-64517950 11:64750477-64750478
11 PYGM NM_005609.4(PYGM):c.129_150del (p.Asp43fs)deletion Pathogenic 848029 11:64527221-64527242 11:64759749-64759770
12 PYGM NC_000011.10:g.(?_64750356)_(64750603_?)deldeletion Pathogenic 831897 11:64517828-64518075
13 PYGM NC_000011.10:g.(?_64750366)_(64750593_?)deldeletion Pathogenic 830781 11:64517838-64518065
14 PYGM NC_000011.10:g.(?_64758226)_(64758724_?)deldeletion Pathogenic 833280 11:64525698-64526196
15 PYGM NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter)SNV Pathogenic 857820 11:64519507-64519507 11:64752035-64752035
16 PYGM NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)deletion Pathogenic 857352 11:64519949-64519950 11:64752477-64752478
17 PYGM NM_005609.4(PYGM):c.682del (p.Asp228fs)deletion Pathogenic 861525 11:64523009-64523009 11:64755537-64755537
18 PYGM NM_005609.4(PYGM):c.521dup (p.Trp175fs)duplication Pathogenic 844539 11:64525724-64525725 11:64758252-64758253
19 PYGM NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)SNV Pathogenic 2302 rs119103253 11:64518803-64518803 11:64751331-64751331
20 PYGM NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)SNV Pathogenic 2303 rs119103256 11:64518029-64518029 11:64750557-64750557
21 PYGM NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro)SNV Pathogenic 2304 rs119103254 11:64521403-64521403 11:64753931-64753931
22 PYGM PYGM, IVS14, G-A, +1deletion Pathogenic 2305
23 PYGM NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)SNV Pathogenic 2298 rs116987552 11:64527223-64527223 11:64759751-64759751
24 PYGM NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)SNV Pathogenic 2299 rs119103251 11:64525298-64525298 11:64757826-64757826
25 PYGM NM_005609.4(PYGM):c.1725del (p.Lys575fs)deletion Pathogenic 2308 rs786200874 11:64519439-64519439 11:64751967-64751967
26 PYGM NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter)SNV Pathogenic 2310 rs119103257 11:64519543-64519543 11:64752071-64752071
27 PYGM PYGM, 1-BP INS, A/8-BP DEL, CODON 387indel Pathogenic 2311
28 PYGM NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)SNV Pathogenic 40042 rs397514631 11:64527219-64527219 11:64759747-64759747
29 PYGM NM_005609.4(PYGM):c.152_154ACT[2] (p.Tyr53del)short repeat Pathogenic 40043 11:64527211-64527213 11:64759739-64759741
30 PYGM NM_005609.4(PYGM):c.1A>C (p.Met1Leu)SNV Pathogenic 156341 rs267606993 11:64527370-64527370 11:64759898-64759898
31 PYGM NM_005609.4(PYGM):c.1768+1G>ASNV Pathogenic 194389 rs771427957 11:64519395-64519395 11:64751923-64751923
32 PYGM NM_005609.4(PYGM):c.13_14del (p.Leu5fs)deletion Pathogenic 371064 rs772194378 11:64527357-64527358 11:64759885-64759886
33 PYGM NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)SNV Pathogenic/Likely pathogenic 188824 rs767739769 11:64522792-64522792 11:64755320-64755320
34 PYGM NM_005609.4(PYGM):c.78_79del (p.Glu27fs)deletion Pathogenic/Likely pathogenic 188778 rs755117847 11:64527292-64527293 11:64759820-64759821
35 PYGM NM_005609.4(PYGM):c.2262del (p.Lys754fs)deletion Pathogenic/Likely pathogenic 95296 rs398124210 11:64514746-64514746 11:64747274-64747274
36 PYGM NM_005609.4(PYGM):c.2125_2127TTC[1] (p.Phe710del)short repeat Pathogenic/Likely pathogenic 139609 rs527236147 11:64517895-64517897 11:64750423-64750425
37 PYGM NM_005609.4(PYGM):c.1366G>A (p.Val456Met)SNV Pathogenic/Likely pathogenic 95290 rs398124208 11:64521028-64521028 11:64753556-64753556
38 PYGM NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)SNV Pathogenic/Likely pathogenic 95291 rs398124209 11:64520597-64520597 11:64753125-64753125
39 PYGM NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)SNV Pathogenic/Likely pathogenic 2312 rs119103258 11:64514268-64514268 11:64746796-64746796
40 PYGM NM_005609.4(PYGM):c.1827G>A (p.Lys609=)SNV Pathogenic/Likely pathogenic 2313 rs119103259 11:64519069-64519069 11:64751597-64751597
41 PYGM NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)SNV Pathogenic/Likely pathogenic 2300 rs119103252 11:64519536-64519536 11:64752064-64752064
42 PYGM NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)SNV Pathogenic/Likely pathogenic 2306 rs144081869 11:64517969-64517969 11:64750497-64750497
43 PYGM NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)SNV Pathogenic/Likely pathogenic 2307 rs119103255 11:64519438-64519438 11:64751966-64751966
44 PYGM NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)SNV Likely pathogenic 856628 11:64521400-64521400 11:64753928-64753928
45 PYGM NC_000011.10:g.(?_64758236)_(64758714_?)deldeletion Likely pathogenic 832953 11:64525708-64526186
46 PYGM NM_005609.4(PYGM):c.345+2T>ASNV Likely pathogenic 848237 11:64526073-64526073 11:64758601-64758601
47 PYGM NM_005609.4(PYGM):c.528+1G>ASNV Likely pathogenic 840085 11:64525717-64525717 11:64758245-64758245
48 PYGM NM_005609.4(PYGM):c.1769-1G>ASNV Likely pathogenic 861532 11:64519128-64519128 11:64751656-64751656
49 PYGM NM_005609.4(PYGM):c.1732_1734CTC[1] (p.Leu579del)short repeat Likely pathogenic 802682 11:64519427-64519429 11:64751955-64751957
50 PYGM NM_005609.4(PYGM):c.1742del (p.Cys581fs)deletion Likely pathogenic 804458 11:64519422-64519422 11:64751950-64751950

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

73 (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

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:

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
Show member pathways
13.87 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
2
Show member pathways
12.73 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
3
Show member pathways
12.63 PYGM PYGL PYGB PHKA1 GYS1
4
Show member pathways
12.49 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
5
Show member pathways
11.78 PYGM PYGL PYGB PFKM GYS1 GAA
6
Show member pathways
11.71 PYGM PYGL PYGB GYS1
7 11.53 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
8 10.66 PYGM PYGL PYGB PHKA1 GYS1 AGL
9 10.51 RYR1 CACNA1S

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 extracellular exosome GO:0070062 9.76 RYR1 PYGM PYGL PYGB PGAM2 MB
2 Z disc GO:0030018 9.54 RYR1 MYOZ3 ACTN3
3 cytosol GO:0005829 9.44 PYGM PYGL PHKA1 PGAM2 PFKM MB
4 ficolin-1-rich granule lumen GO:1904813 9.43 PYGL AMPD3 AGL
5 I band GO:0031674 9.4 RYR1 CACNA1S
6 inclusion body GO:0016234 9.32 GYS1 AGL
7 secretory granule lumen GO:0034774 9.13 PYGL AMPD3 AGL

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.83 PYGL PYGB GAA AMPD3 AGL
2 metabolic process GO:0008152 9.7 PYGM PYGL PYGB PFKM GYS1 GAA
3 muscle contraction GO:0006936 9.69 RYR1 CACNA1S ACTN3
4 carbohydrate metabolic process GO:0005975 9.65 PYGM PYGL PYGB PHKA1 GAA
5 canonical glycolysis GO:0061621 9.56 PGAM2 PFKM
6 muscle cell cellular homeostasis GO:0046716 9.55 PFKM GAA
7 glycogen biosynthetic process GO:0005978 9.54 GYS1 AGL
8 striated muscle contraction GO:0006941 9.52 PGAM2 GAA
9 glycogen metabolic process GO:0005977 9.5 PYGM PYGL PYGB PHKA1 GYS1 GAA
10 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.49 AMPD3 AMPD1
11 purine-containing compound salvage GO:0043101 9.48 AMPD3 AMPD1
12 cellular response to caffeine GO:0071313 9.46 RYR1 CACNA1S
13 AMP metabolic process GO:0046033 9.4 AMPD3 AMPD1
14 IMP salvage GO:0032264 9.37 AMPD3 AMPD1
15 IMP biosynthetic process GO:0006188 9.32 AMPD3 AMPD1
16 glycogen catabolic process GO:0005980 9.17 PYGM PYGL PYGB PHKA1 PFKM GAA

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.08 PYGM PYGL PYGB PFKM GYS1 CPT2
2 transferase activity, transferring glycosyl groups GO:0016757 9.77 PYGM PYGL PYGB GYS1 AGL
3 pyridoxal phosphate binding GO:0030170 9.61 PYGM PYGL PYGB
4 AMP binding GO:0016208 9.51 PYGL PFKM
5 phosphorylase activity GO:0004645 9.5 PYGM PYGL PYGB
6 glucose binding GO:0005536 9.49 PYGL GYS1
7 deaminase activity GO:0019239 9.46 AMPD3 AMPD1
8 SHG alpha-glucan phosphorylase activity GO:0102499 9.43 PYGM PYGL PYGB
9 AMP deaminase activity GO:0003876 9.4 AMPD3 AMPD1
10 linear malto-oligosaccharide phosphorylase activity GO:0102250 9.33 PYGM PYGL PYGB
11 catalytic activity GO:0003824 9.28 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
12 glycogen phosphorylase activity GO:0008184 9.13 PYGM PYGL PYGB

Sources for Glycogen Storage Disease V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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