GSD5
MCID: GLY004
MIFTS: 61

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 myopathy due to myoadenylate deaminase deficiency and metabolic myopathy. 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 Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, skeletal muscle and testes, and related phenotypes are elevated serum creatine kinase and myopathy

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 277)
# Related Disease Score Top Affiliating Genes
1 myopathy due to myoadenylate deaminase deficiency 31.0 AMPD3 AMPD1
2 metabolic myopathy 30.9 PGAM2 MB AMPD1
3 myoglobinuria, recurrent 30.5 PYGM CPT2 ACADVL
4 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 30.5 PFKM MB CPT2 CHKB ACADVL
5 myopathy, congenital 30.3 PYGM GAA CHKB
6 glycogen storage disease iii 30.2 PYGB GAA
7 multiple acyl-coa dehydrogenase deficiency 30.0 PYGM CPT2 AMPD1 ACADVL
8 glycogen storage disease vii 29.9 PYGM PGAM2 PFKM AMPD3 AMPD1
9 neuromuscular disease 29.4 MB GAA CHKB CACNA1S AMPD1
10 muscular dystrophy 29.4 PYGM MB GAA CHKB ACTN3
11 hypoglycemia 29.3 PYGL GYS1 CPT2 ACADVL
12 myoglobinuria 29.1 PYGM PHKA1 PGAM2 PFKM MB CPT2
13 malignant hyperthermia 28.8 MB GYS1 CPT2 CHKB CACNA1S AMPD1
14 carbohydrate metabolic disorder 28.6 PYGM PHKA1 PGM1 PFKM GYS1 GAA
15 muscular disease 27.9 PYGM MB GAA CPT2 CACNA1S BLOC1S1
16 dilated cardiomyopathy 27.6 PGM1 MB GAA CPT2 CHKB CACNA1S
17 glycogen storage disease 27.4 PYGM PYGL PHKA1 PGM1 PGAM2 PFKM
18 muscular phosphorylase kinase deficiency 11.3
19 myoglobinuria, acute recurrent, autosomal recessive 11.2
20 glycogen storage disease x 11.2
21 myopathy 10.7
22 acute kidney failure 10.6
23 glycogen storage disease vi 10.4 PYGM PYGL
24 autosomal recessive disease 10.4
25 insulin-like growth factor i 10.3
26 kidney disease 10.3
27 glycogen storage disease viii 10.2 PYGB PHKA1
28 glycogen storage disease ixa 10.2 PYGL PHKA1
29 yaws 10.2
30 glycogen storage disease, type ixd 10.2 PYGL PHKA1
31 dwarfism 10.2
32 polycystic kidney disease 10.1
33 myopathy, myofibrillar, 4 10.1 MYOZ3 AMPD1
34 lysosomal glycogen storage disease 10.1 MB GAA CHKB
35 creatine phosphokinase, elevated serum 10.1 MB GAA CHKB
36 muscle hypertrophy 10.1
37 compartment syndrome 10.1
38 chromosomal triplication 10.1
39 salmonellosis 10.1
40 dermatitis 10.1
41 citrullinemia, classic 10.1 CPT2 ACADVL
42 acyl-coa dehydrogenase, short-chain, deficiency of 10.1 CPT2 ACADVL
43 gout 10.1
44 lactic acidosis 10.1
45 3-methylcrotonyl-coa carboxylase deficiency 10.1 CPT2 ACADVL
46 spondyloarthropathy 10.1
47 visual epilepsy 10.1
48 polymyositis 10.1
49 seizure disorder 10.1
50 acyl-coa dehydrogenase, very long-chain, deficiency of 10.0 CPT2 ACADVL

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:

31 58 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 31 very rare (1%) HP:0003236
2 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
3 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
4 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
5 muscle weakness 31 very rare (1%) HP:0001324
6 myoglobinuria 31 very rare (1%) HP:0002913
7 short stature 31 HP:0004322
8 abnormality of the endocrine system 31 HP:0000818
9 abnormality of metabolism/homeostasis 31 HP:0001939
10 elevated serum creatine phosphokinase 58 Very frequent (99-80%)
11 exercise-induced myalgia 31 HP:0003738
12 exercise-induced rhabdomyolysis 31 HP:0009045
13 exercise-induced muscle cramps 31 HP:0003710
14 dark urine 31 HP:0040319

Symptoms via clinical synopsis from OMIM:

56
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.37 CHKB PFKM
2 Decreased viability GR00221-A-2 10.37 CHKB CPT2 PFKM PHKA1
3 Decreased viability GR00221-A-3 10.37 CHKB PFKM PHKA1
4 Decreased viability GR00221-A-4 10.37 CHKB CPT2
5 Decreased viability GR00301-A 10.37 CHKB
6 Decreased viability GR00381-A-1 10.37 MYOZ3
7 Decreased viability GR00402-S-2 10.37 ACADVL ACTN3 AMPD1 AMPD3 BLOC1S1 CACNA1S
8 no effect GR00402-S-1 9.96 ACADVL ACTN3 AMPD1 AMPD3 BLOC1S1 CACNA1S
9 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 ACADVL GAA PFKM PGM1 PHKA1 PYGL

MGI Mouse Phenotypes related to Glycogen Storage Disease V:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ACADVL AMPD1 AMPD3 BLOC1S1 CACNA1S CHKB
2 muscle MP:0005369 9.32 ACADVL AMPD1 CACNA1S CHKB GAA GYS1

Drugs & Therapeutics for Glycogen Storage Disease V

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2 Neurotransmitter Agents Phase 2
3 Tranquilizing Agents Phase 2
4 Anticonvulsants Phase 2
5 Psychotropic Drugs Phase 2
6 GABA Agents Phase 2
7 Antimanic Agents Phase 2
8 Central Nervous System Depressants Phase 2
9
Zinc Approved, Investigational 7440-66-6 32051
10 Pharmaceutical Solutions

Interventional clinical trials:

(show all 13)
# 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 Modified Ketogenic Diet in Patients With McArdle Disease Part A - a Pilot Study Completed NCT03843606
7 Prevalence of a Non-Expressing 11B Mutation in Aka Peoples of the Central African Republic Completed NCT00340769
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 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02385162
11 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269
12 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Enrolling by invitation NCT03211923
13 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 6 54 61
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. 6 56 54
11168025 2001
3
Dominant inheritance of McArdle syndrome. 56 61 6
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? 24 56 54
16924035 2006
6
McArdle's disease: two clinical expressions in the same pedigree. 56 6
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. 54 61 6
14748827 2004
10
Phenotype modulators in myophosphorylase deficiency. 61 54 56
12666117 2003
11
Molecular characterization of McArdle's disease in two large Finnish families. 61 54 6
10450796 1999
12
Mutation analysis in myophosphorylase deficiency (McArdle's disease). 61 54 6
9506549 1998
13
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). 61 54 6
8535454 1995
14
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). 6 61 54
7951262 1994
15
Three new mutations in patients with myophosphorylase deficiency (McArdle disease). 61 6 54
8279469 1994
16
Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency. 54 61 56
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. 61 6
10681080 2000
19
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
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. 61 56
3808314 1987
22
Acute renal failure in McArdle's disease. 61 56
3467218 1986
23
Low muscle levels of pyridoxine in McArdle's syndrome. 56 61
6572033 1983
24
Phosphorylation of McArdle phosphorylase induces activity. 61 56
6265901 1981
25
A new variant of late-onset myophosphorylase deficiency. 56 61
6929403 1980
26
Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. 56 61
291791 1979
27
Clinical utility gene card for McArdle disease. 24 61
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
Examination of a case of suspected McArdle's syndrome by 31P nuclear magnetic resonance. 56
6938778 1981
44
Research on molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). Use of new protein mapping and immunological techniques. 56
6797345 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.148C>T (p.Arg50Ter)SNV Pathogenic 2298 rs116987552 11:64527223-64527223 11:64759751-64759751
2 PYGM NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)SNV Pathogenic 2299 rs119103251 11:64525298-64525298 11:64757826-64757826
3 PYGM NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)SNV Pathogenic 2300 rs119103252 11:64519536-64519536 11:64752064-64752064
4 PYGM NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)SNV Pathogenic 2302 rs119103253 11:64518803-64518803 11:64751331-64751331
5 PYGM NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)SNV Pathogenic 2303 rs119103256 11:64518029-64518029 11:64750557-64750557
6 PYGM NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro)SNV Pathogenic 2304 rs119103254 11:64521403-64521403 11:64753931-64753931
7 PYGM PYGM, IVS14, G-A, +1deletion Pathogenic 2305
8 PYGM NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter)SNV Pathogenic 2310 rs119103257 11:64519543-64519543 11:64752071-64752071
9 PYGM PYGM, 1-BP INS, A/8-BP DEL, CODON 387indel Pathogenic 2311
10 PYGM NM_005609.4(PYGM):c.1725del (p.Lys575fs)deletion Pathogenic 2308 rs786200874 11:64519439-64519439 11:64751967-64751967
11 PYGM NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)SNV Pathogenic 40042 rs397514631 11:64527219-64527219 11:64759747-64759747
12 PYGM NM_005609.4(PYGM):c.152_154ACT[2] (p.Tyr53del)short repeat Pathogenic 40043 11:64527211-64527213 11:64759739-64759741
13 PYGM NM_005609.4(PYGM):c.1768+1G>ASNV Pathogenic 194389 rs771427957 11:64519395-64519395 11:64751923-64751923
14 PYGM NM_005609.4(PYGM):c.1A>C (p.Met1Leu)SNV Pathogenic 156341 rs267606993 11:64527370-64527370 11:64759898-64759898
15 PYGM NM_005609.4(PYGM):c.13_14del (p.Leu5fs)deletion Pathogenic 371064 rs772194378 11:64527357-64527358 11:64759885-64759886
16 PYGM NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)SNV Pathogenic 456518 rs370247862 11:64526140-64526140 11:64758668-64758668
17 PYGM NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)SNV Pathogenic 526617 rs119103258 11:64514268-64514268 11:64746796-64746796
18 PYGM NM_005609.4(PYGM):c.2380-1G>ASNV Pathogenic 553507 rs1555133248 11:64514281-64514281 11:64746809-64746809
19 PYGM NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)SNV Pathogenic 433147 rs114073621 11:64518818-64518818 11:64751346-64751346
20 PYGM NM_005609.4(PYGM):c.1A>T (p.Met1Leu)SNV Pathogenic 553271 rs267606993 11:64527370-64527370 11:64759898-64759898
21 PYGM NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)duplication Pathogenic 582100 rs770037766 11:64527343-64527350 11:64759871-64759878
22 PYGM NM_005609.4(PYGM):c.395_408del (p.Leu132fs)deletion Pathogenic 591687 rs1565538121 11:64525925-64525938 11:64758453-64758466
23 PYGM NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter)SNV Pathogenic 650465 11:64519934-64519934 11:64752462-64752462
24 PYGM NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)SNV Pathogenic/Likely pathogenic 2312 rs119103258 11:64514268-64514268 11:64746796-64746796
25 PYGM NM_005609.4(PYGM):c.1366G>A (p.Val456Met)SNV Pathogenic/Likely pathogenic 95290 rs398124208 11:64521028-64521028 11:64753556-64753556
26 PYGM NM_005609.4(PYGM):c.2262del (p.Lys754fs)deletion Pathogenic/Likely pathogenic 95296 rs398124210 11:64514746-64514746 11:64747274-64747274
27 PYGM NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)SNV Pathogenic/Likely pathogenic 2307 rs119103255 11:64519438-64519438 11:64751966-64751966
28 PYGM NM_005609.4(PYGM):c.2125_2127TTC[1] (p.Phe710del)short repeat Pathogenic/Likely pathogenic 139609 rs527236147 11:64517895-64517897 11:64750423-64750425
29 PYGM NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)SNV Pathogenic/Likely pathogenic 188824 rs767739769 11:64522792-64522792 11:64755320-64755320
30 PYGM NM_005609.4(PYGM):c.407del (p.Gly136fs)deletion Likely pathogenic 189130 rs786204723 11:64525926-64525926 11:64758454-64758454
31 PYGM NM_005609.4(PYGM):c.78_79del (p.Glu27fs)deletion Likely pathogenic 188778 rs755117847 11:64527292-64527293 11:64759820-64759821
32 PYGM NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)SNV Likely pathogenic 139608 rs527236146 11:64526165-64526165 11:64758693-64758693
33 PYGM NM_005609.4(PYGM):c.1827G>A (p.Lys609=)SNV Likely pathogenic 2313 rs119103259 11:64519069-64519069 11:64751597-64751597
34 PYGM NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)SNV Likely pathogenic 2314 rs119103260 11:64519442-64519442 11:64751970-64751970
35 PYGM NM_005609.4(PYGM):c.1A>G (p.Met1Val)SNV Likely pathogenic 2309 rs267606993 11:64527370-64527370 11:64759898-64759898
36 PYGM NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)SNV Likely pathogenic 2306 rs144081869 11:64517969-64517969 11:64750497-64750497
37 PYGM NM_005609.4(PYGM):c.1797del (p.Phe599fs)deletion Likely pathogenic 188807 rs769960481 11:64519099-64519099 11:64751627-64751627
38 PYGM NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)SNV Likely pathogenic 623217 rs780246932 11:64525930-64525930 11:64758458-64758458
39 PYGM NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)SNV Likely pathogenic 552845 rs1555136459 11:64525963-64525963 11:64758491-64758491
40 PYGM NM_005609.4(PYGM):c.660+1G>ASNV Likely pathogenic 552142 rs1555136208 11:64525250-64525250 11:64757778-64757778
41 PYGM NM_005609.4(PYGM):c.1239+1G>ASNV Likely pathogenic 569514 11:64521350-64521350 11:64753878-64753878
42 PYGM NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)SNV Likely pathogenic 555145 rs780656375 11:64517882-64517882 11:64750410-64750410
43 PYGM NM_005609.4(PYGM):c.1093-1G>TSNV Likely pathogenic 554437 rs1163710370 11:64521498-64521498 11:64754026-64754026
44 PYGM NM_005609.4(PYGM):c.262_263del (p.Leu88fs)deletion Likely pathogenic 550178 rs1555136540 11:64526156-64526158 11:64758685-64758686
45 PYGM NM_005609.4(PYGM):c.198del (p.Arg67fs)deletion Likely pathogenic 550433 rs750857876 11:64527172-64527173 11:64759701-64759701
46 PYGM NM_005609.4(PYGM):c.219_220del (p.His74fs)deletion Likely pathogenic 554047 rs1555136752 11:64527150-64527152 11:64759679-64759680
47 PYGM NM_005609.4(PYGM):c.2319del (p.Val774fs)deletion Likely pathogenic 553519 rs1462767117 11:64514452-64514453 11:64746981-64746981
48 PYGM NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)SNV Likely pathogenic 370492 rs1057516529 11:64514132-64514132 11:64746660-64746660
49 PYGM NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)SNV Likely pathogenic 371094 rs1057517001 11:64514420-64514420 11:64746948-64746948
50 PYGM NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs)deletion Likely pathogenic 371165 rs1057517058 11:64514764-64514777 11:64747292-64747305

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
13.86 PYGM PYGL PYGB PHKA1 PGM1 PGAM2
2
Show member pathways
12.73 PYGM PYGL PYGB PHKA1 PGM1 PGAM2
3
Show member pathways
12.63 PYGM PYGL PYGB PHKA1 GYS1
4
Show member pathways
12.49 PYGM PYGL PYGB PHKA1 PGM1 PGAM2
5
Show member pathways
11.78 PYGM PYGL PYGB PGM1 PFKM GYS1
6
Show member pathways
11.75 PYGM PYGL PYGB GYS1
7 11.53 PYGM PYGL PYGB PHKA1 PGAM2 PFKM
8
Show member pathways
11.33 CPT2 CHKB ACADVL
9 10.66 PYGM PYGL PYGB PHKA1 PGM1 GYS1

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 PYGM PYGL PYGB PGM1 PGAM2 MB
2 cytosol GO:0005829 9.47 PYGM PYGL PHKA1 PGM1 PGAM2 PFKM
3 ficolin-1-rich granule lumen GO:1904813 9.13 PYGL PGM1 AMPD3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 PYGL PYGB PGM1 GAA AMPD3
2 carbohydrate metabolic process GO:0005975 9.73 PYGM PYGL PYGB PHKA1 PGM1 GAA
3 metabolic process GO:0008152 9.63 PYGM PYGL PYGB PFKM GYS1 GAA
4 canonical glycolysis GO:0061621 9.55 PGAM2 PFKM
5 muscle cell cellular homeostasis GO:0046716 9.54 PFKM GAA
6 glycolytic process GO:0006096 9.54 PGM1 PGAM2 PFKM
7 glycogen biosynthetic process GO:0005978 9.52 PGM1 GYS1
8 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.51 AMPD3 AMPD1
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 glycogen metabolic process GO:0005977 9.43 PYGM PYGL PYGB PHKA1 GYS1 GAA
13 IMP salvage GO:0032264 9.4 AMPD3 AMPD1
14 IMP biosynthetic process GO:0006188 9.32 AMPD3 AMPD1
15 glycogen catabolic process GO:0005980 9.17 PYGM PYGL PYGB PHKA1 PGM1 PFKM

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 catalytic activity GO:0003824 9.81 PYGM PYGL PFKM GAA
2 transferase activity, transferring glycosyl groups GO:0016757 9.76 PYGM PYGL PYGB GYS1
3 pyridoxal phosphate binding GO:0030170 9.54 PYGM PYGL PYGB
4 AMP binding GO:0016208 9.49 PYGL PFKM
5 glucose binding GO:0005536 9.48 PYGL GYS1
6 intramolecular transferase activity, phosphotransferases GO:0016868 9.43 PGM1 PGAM2
7 phosphorylase activity GO:0004645 9.43 PYGM PYGL PYGB
8 deaminase activity GO:0019239 9.4 AMPD3 AMPD1
9 SHG alpha-glucan phosphorylase activity GO:0102499 9.33 PYGM PYGL PYGB
10 AMP deaminase activity GO:0003876 9.32 AMPD3 AMPD1
11 linear malto-oligosaccharide phosphorylase activity GO:0102250 9.13 PYGM PYGL PYGB
12 glycogen phosphorylase activity GO:0008184 8.8 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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