GSD5
MCID: MCR264
MIFTS: 56

Mcardle Disease (GSD5) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Mcardle Disease

Aliases & Descriptions for Mcardle Disease:

Name: Mcardle Disease 54 23 50 24 25 56 66 13
Glycogen Storage Disease Type V 12 23 24 25 56 42 69
Myophosphorylase Deficiency 12 23 50 24 25 56 66
Muscle Glycogen Phosphorylase Deficiency 23 50 24 25
Glycogen Storage Disease V 54 12 66 14
Glycogen Storage Disease Type 5 50 25 56
Glycogenosis Type V 23 24 56
Gsd V 24 25 66
Mcardle Type Glycogen Storage Disease 50 25
Glycogen Storage Disease 5 66 29
Mcardle's Disease 12 25
Mcardle Syndrome 24 25
Pygm Deficiency 50 25
Gsd Type V 25 56
Gsdv 23 24
Glycogen Storage Disease Due to Muscle Glycogen Phosphorylase Deficiency 56
Glycogenosis Due to Muscle Glycogen Phosphorylase Deficiency 56
Gsd Due to Muscle Glycogen Phosphorylase Deficiency 56
Glycogen Storage Disease, Type V 12
Muscle Phosphorylase Deficiency 25
Phosphorylase, Glycogen, Muscle 13
Glycogenosis Type 5 56
Mcardles Disease 52
Glycogenosis 5 25
Gsd Type 5 56
Gsd 5 50
Gsd-V 66
Gsd5 66

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to muscle glycogen phosphorylase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

HPO:

32
mcardle disease:
Inheritance autosomal recessive inheritance multifactorial inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 54 232600
Disease Ontology 12 DOID:2746
ICD10 33 E74.04
MeSH 42 D006012
NCIt 47 C84738
SNOMED-CT 64 55912009
Orphanet 56 ORPHA368
ICD10 via Orphanet 34 E74.0
MESH via Orphanet 43 C537276 D006012
UMLS via Orphanet 70 C0017924 C2936916
MedGen 40 C0017924
UMLS 69 C0017924

Summaries for Mcardle Disease

NIH Rare Diseases : 50 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. last updated: 1/2/2016

MalaCards based summary : Mcardle Disease, also known as glycogen storage disease type v, is related to myoglobinuria, acute recurrent, autosomal recessive and adult-onset nemaline myopathy, and has symptoms including renal insufficiency, myopathy and abnormality of the cardiovascular system. An important gene associated with Mcardle Disease is PYGM (Glycogen Phosphorylase, Muscle Associated), and among its related pathways/superpathways are Metabolism and Glucose metabolism. The drugs Clenbuterol and Valproic Acid have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, kidney and brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 Glycogen storage disease 5: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.

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.

OMIM : 54 McArdle disease is an autosomal recessive metabolic disorder characterized by onset of exercise intolerance and muscle... (232600) more...

Wikipedia : 71 Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage... more...

GeneReviews: NBK1344

Related Diseases for Mcardle Disease

Graphical network of the top 20 diseases related to Mcardle Disease:



Diseases related to Mcardle Disease

Symptoms & Phenotypes for Mcardle Disease

Symptoms by clinical synopsis from OMIM:

232600

Clinical features from OMIM:

232600

Human phenotypes related to Mcardle Disease:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
2 myopathy 56 32 Frequent (79-30%) HP:0003198
3 abnormality of the cardiovascular system 56 32 Occasional (29-5%) HP:0001626
4 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
5 muscle weakness 32 HP:0001324
6 exercise-induced myalgia 32 HP:0003738
7 short stature 32 HP:0004322
8 abnormality of metabolism/homeostasis 32 HP:0001939
9 abnormality of the endocrine system 32 HP:0000818
10 rhabdomyolysis 32 HP:0003201
11 myoglobinuria 32 HP:0002913
12 exercise-induced muscle cramps 32 HP:0003710

MGI Mouse Phenotypes related to Mcardle Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ACE AMPD3 CHKB GAA PFKM PYGM
2 homeostasis/metabolism MP:0005376 9.56 ACE AMPD3 CHKB CPT2 GAA MT-CO1
3 muscle MP:0005369 9.02 CHKB GAA MT-CO1 PFKM PYGM

Drugs & Therapeutics for Mcardle Disease

Drugs for Mcardle Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clenbuterol Approved, Vet_approved Phase 1, Phase 2 37148-27-9 2783
2
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
3 Adrenergic Agents Phase 1, Phase 2
4 Adrenergic Agonists Phase 1, Phase 2
5 Adrenergic beta-2 Receptor Agonists Phase 1, Phase 2
6 Adrenergic beta-Agonists Phase 1, Phase 2
7 Albuterol Phase 1, Phase 2
8 Anti-Asthmatic Agents Phase 1, Phase 2
9 Autonomic Agents Phase 1, Phase 2
10 Bronchodilator Agents Phase 1, Phase 2
11 Neurotransmitter Agents Phase 1, Phase 2
12 Peripheral Nervous System Agents Phase 1, Phase 2
13 Respiratory System Agents Phase 1, Phase 2
14 Tocolytic Agents Phase 1, Phase 2
15 Anticonvulsants Phase 2
16 Antimanic Agents Phase 2
17 Central Nervous System Depressants Phase 2,Phase 1
18 GABA Agents Phase 2
19 Psychotropic Drugs Phase 2
20 Tranquilizing Agents Phase 2
21
Acetaminophen Approved Phase 1 103-90-2 1983
22
Benzocaine Approved Phase 1 1994-09-7, 94-09-7 2337
23
Diphenhydramine Approved Phase 1 58-73-1, 147-24-0 3100
24
Everolimus Approved Phase 1 159351-69-6 6442177
25
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
26
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
27
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
28
Promethazine Approved Phase 1 60-87-7 4927
29
rituximab Approved Phase 1 174722-31-7 10201696
30
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
31 tannic acid Approved, Nutraceutical Phase 1
32 Antibodies Phase 1
33 Immunoglobulins Phase 1
34 Pharmaceutical Solutions Phase 1
35 Analgesics Phase 1
36 Analgesics, Non-Narcotic Phase 1
37 Anesthetics Phase 1
38 Anesthetics, Local Phase 1
39 Anti-Allergic Agents Phase 1
40 Anti-Arrhythmia Agents Phase 1
41 Anti-Bacterial Agents Phase 1
42 Antibiotics, Antitubercular Phase 1
43 Antiemetics Phase 1
44 Antifungal Agents Phase 1
45 Anti-Infective Agents Phase 1
46 Antipruritics Phase 1
47 Antipyretics Phase 1
48 Antirheumatic Agents Phase 1
49 Dermatologic Agents Phase 1
50 Diuretics, Potassium Sparing Phase 1

Interventional clinical trials:

(show all 24)
id Name Status NCT ID Phase
1 NeoGAA Extension Study Enrolling by invitation NCT02032524 Phase 2, Phase 3
2 A Trial to Determine the Effects of Exercise in Inflammatory Bowel Disease and Rheumatoid Arthritis Unknown status NCT02463916 Phase 2
3 Faecal Microbiota Transplantation in Irritable Bowel Syndrome Unknown status NCT02423421 Phase 2
4 Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement Therapy Completed NCT01885936 Phase 1, Phase 2
5 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Completed NCT00976352 Phase 1, Phase 2
6 Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy Completed NCT01942590 Phase 1, Phase 2
7 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) Recruiting NCT02432768 Phase 2
8 Sodium Valproate for GSDV Active, not recruiting NCT03112889 Phase 2
9 Triheptanoin in Mc Ardle Not yet recruiting NCT02919631 Phase 2
10 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
11 Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. Completed NCT01898364 Phase 1
12 A Safety Study of SGN-CD19B in Patients With B-cell Non-Hodgkin Lymphoma Recruiting NCT02702141 Phase 1
13 Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Not yet recruiting NCT02240407 Phase 1
14 The Effect of Hyperglycaemia on Local Energy Stores in the Working Muscle in Patients With Type 1 Diabetes Mellitus Completed NCT00325559
15 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
16 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
17 Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices Recruiting NCT02838368
18 Biomarker for Pompe Disease Recruiting NCT01457443
19 Pompe Telemedicine Developmental Study Recruiting NCT02950298
20 Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study) Recruiting NCT02824068
21 Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations Recruiting NCT02023489
22 Quantitation of McArdle's Sign and Evaluation of Specificity for Multiple Sclerosis Recruiting NCT03122873
23 Standard or Comprehensive Radiation Therapy in Treating Patients With Early-Stage Breast Cancer Previously Treated With Chemotherapy and Surgery Recruiting NCT01872975
24 Prostate Nutrition and Exercise STudy (ProNEST) Not yet recruiting NCT03173807

Search NIH Clinical Center for Mcardle Disease

Cochrane evidence based reviews: glycogen storage disease type v

Genetic Tests for Mcardle Disease

Genetic tests related to Mcardle Disease:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type V 29
2 Glycogen Storage Disease Type V 24 PYGM

Anatomical Context for Mcardle Disease

MalaCards organs/tissues related to Mcardle Disease:

39
Skeletal Muscle, Kidney, Brain

Publications for Mcardle Disease

Articles related to Mcardle Disease:

(show top 50) (show all 77)
id Title Authors Year
1
Differential glucose metabolism in mice and humans affected by McArdle disease. ( 27280431 )
2016
2
Rhabdomyolysis With Acute Renal Failure Requiring Dialysis in McArdle Disease: A Role for the Antidepressant Venlafaxine? ( 27300253 )
2016
3
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease. ( 26913921 )
2016
4
Xanthine Oxidase Pathway and Muscle Damage. Insights from McArdle Disease. ( 26861723 )
2016
5
McArdle Disease Misdiagnosed as Meningitis. ( 27899787 )
2016
6
Normal activities of AMP-deaminase and adenylate kinase in patients with McArdle disease. ( 27760513 )
2016
7
Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease. ( 27030740 )
2016
8
Muscle fiber type proportion and size is not altered in mcardle disease. ( 27859426 )
2016
9
Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease. ( 27303362 )
2016
10
A rare case of multiple sclerosis and McArdle disease. ( 25987006 )
2015
11
Genes and exercise intolerance: Insights from McArdle disease. ( 26465709 )
2015
12
Investigating sodium valproate as a treatment for McArdle disease in sheep. ( 25455802 )
2015
13
Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease. ( 26240973 )
2015
14
Minimal symptoms in McArdle disease: A real PYGM genotype effect? ( 26228546 )
2015
15
McArdle disease: 2 case reports. ( 26235145 )
2015
16
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. ( 25914343 )
2015
17
Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro. ( 25762569 )
2015
18
Cardiorespiratory fitness, physical activity, and quality of life in patients with McArdle disease. ( 25058326 )
2015
19
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications. ( 25053163 )
2015
20
Exercise and Preexercise Nutrition as Treatment for McArdle Disease. ( 26559449 )
2015
21
Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease). ( 26030324 )
2015
22
Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. ( 25741863 )
2015
23
Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum. ( 26032558 )
2015
24
Recurrent Compartment Syndrome Leading to the Diagnosis of McArdle Disease: Case Report. ( 26612634 )
2015
25
Six-Digit CPK and Mildly Affected Renal Function in McArdle Disease. ( 25371840 )
2014
26
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease? ( 25240406 )
2014
27
Emotionally-intense situations can result in rhabdomyolysis in McArdle disease. ( 25293680 )
2014
28
McArdle disease does not affect skeletal muscle fibre type profiles in humans. ( 25432515 )
2014
29
Severe Axial Myopathy in McArdle Disease. ( 24216972 )
2014
30
From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease. ( 25054987 )
2014
31
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). ( 25391139 )
2014
32
Oxidative stress and Nrf2 signaling in McArdle disease. ( 23906480 )
2013
33
McArdle disease: a novel mutation in Jewish families from the Caucasus region. ( 22608882 )
2012
34
Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease). ( 21658951 )
2011
35
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern. ( 21880526 )
2011
36
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). ( 21154353 )
2010
37
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. ( 19251976 )
2009
38
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease. ( 19472443 )
2009
39
McArdle disease and sporadic inclusion body myositis. ( 19220759 )
2009
40
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. ( 19433441 )
2009
41
Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease? ( 19232494 )
2009
42
[McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. ( 19878922 )
2009
43
McArdle disease: another systemic low-inflammation disorder? ( 18162322 )
2008
44
A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay. ( 18667317 )
2008
45
Recurrent acute kidney failure due to McArdle disease. ( 19377243 )
2008
46
McArdle disease: what do neurologists need to know? ( 18833216 )
2008
47
[McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients]. ( 18808785 )
2008
48
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). ( 18425888 )
2008
49
Acute renal failure due to rhabdomyolysis in a child with McArdle disease. ( 17899190 )
2008
50
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. ( 17994553 )
2008

Variations for Mcardle Disease

UniProtKB/Swiss-Prot genetic disease variations for Mcardle Disease:

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

ClinVar genetic disease variations for Mcardle Disease:

6 (show top 50) (show all 51)
id Gene Variation Type Significance SNP ID Assembly Location
1 PYGM NM_005609.3(PYGM): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs116987552 GRCh37 Chromosome 11, 64527223: 64527223
2 PYGM NM_005609.3(PYGM): c.613G> A (p.Gly205Ser) single nucleotide variant Pathogenic rs119103251 GRCh37 Chromosome 11, 64525298: 64525298
3 PYGM NM_005609.3(PYGM): c.1628A> C (p.Lys543Thr) single nucleotide variant Pathogenic rs119103252 GRCh37 Chromosome 11, 64519536: 64519536
4 PYGM NM_005609.3(PYGM): c.1963G> A (p.Glu655Lys) single nucleotide variant Pathogenic rs119103253 GRCh37 Chromosome 11, 64518803: 64518803
5 PYGM NM_005609.3(PYGM): c.1996C> G (p.Gln666Glu) single nucleotide variant Pathogenic rs119103256 GRCh37 Chromosome 11, 64518029: 64518029
6 PYGM NM_005609.3(PYGM): c.1187T> C (p.Leu396Pro) single nucleotide variant Pathogenic rs119103254 GRCh37 Chromosome 11, 64521403: 64521403
7 PYGM PYGM, IVS14, G-A, +1 deletion Pathogenic
8 PYGM NM_005609.3(PYGM): c.2056G> A (p.Gly686Arg) single nucleotide variant Pathogenic rs144081869 GRCh37 Chromosome 11, 64517969: 64517969
9 PYGM NM_005609.3(PYGM): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic/Likely pathogenic rs119103255 GRCh37 Chromosome 11, 64519438: 64519438
10 PYGM NM_005609.3(PYGM): c.1725delA (p.Lys575Asnfs) deletion Pathogenic rs786200874 GRCh37 Chromosome 11, 64519439: 64519439
11 PYGM NM_005609.3(PYGM): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs267606993 GRCh37 Chromosome 11, 64527370: 64527370
12 PYGM NM_005609.3(PYGM): c.1621G> T (p.Glu541Ter) single nucleotide variant Pathogenic rs119103257 GRCh37 Chromosome 11, 64519543: 64519543
13 PYGM PYGM, 1-BP INS, A/8-BP DEL, CODON 387 indel Pathogenic
14 PYGM NM_005609.3(PYGM): c.2392T> C (p.Trp798Arg) single nucleotide variant Pathogenic rs119103258 GRCh37 Chromosome 11, 64514268: 64514268
15 PYGM NM_005609.3(PYGM): c.1827G> A (p.Lys609=) single nucleotide variant Pathogenic/Likely pathogenic rs119103259 GRCh37 Chromosome 11, 64519069: 64519069
16 PYGM NM_005609.3(PYGM): c.1722T> G (p.Tyr574Ter) single nucleotide variant Pathogenic/Likely pathogenic rs119103260 GRCh37 Chromosome 11, 64519442: 64519442
17 PYGM NM_005609.2(PYGM): c.425_528del single nucleotide variant Pathogenic/Likely pathogenic rs764313717 GRCh38 Chromosome 11, 64758375: 64758375
18 PYGM NM_005609.3(PYGM): c.152A> G (p.Asp51Gly) single nucleotide variant Pathogenic rs397514631 GRCh37 Chromosome 11, 64527219: 64527219
19 PYGM PYGM, 3-BP DEL, 158ACT deletion Pathogenic
20 PYGM NM_005609.3(PYGM): c.1366G> A (p.Val456Met) single nucleotide variant Pathogenic/Likely pathogenic rs398124208 GRCh37 Chromosome 11, 64521028: 64521028
21 PYGM NM_005609.3(PYGM): c.1466C> G (p.Pro489Arg) single nucleotide variant Pathogenic rs398124209 GRCh37 Chromosome 11, 64520597: 64520597
22 PYGM NM_005609.3(PYGM): c.2262delA (p.Lys754Asnfs) deletion Pathogenic rs398124210 GRCh37 Chromosome 11, 64514746: 64514746
23 PYGM NM_005609.3(PYGM): c.255C> A (p.Tyr85Ter) single nucleotide variant Pathogenic/Likely pathogenic rs527236146 GRCh38 Chromosome 11, 64758693: 64758693
24 PYGM NM_005609.3(PYGM): c.2128_2130delTTC (p.Phe710del) deletion Pathogenic/Likely pathogenic rs527236147 GRCh38 Chromosome 11, 64750423: 64750425
25 PYGM NM_005609.3(PYGM): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs267606993 GRCh38 Chromosome 11, 64759898: 64759898
26 PYGM NM_005609.3(PYGM): c.1797delT (p.Phe599Leufs) deletion Likely pathogenic rs769960481 GRCh38 Chromosome 11, 64751627: 64751627
27 PYGM NM_005609.3(PYGM): c.808C> T (p.Arg270Ter) single nucleotide variant Likely pathogenic rs767739769 GRCh38 Chromosome 11, 64755320: 64755320
28 PYGM NM_005609.3(PYGM): c.407delG (p.Gly136Alafs) deletion Likely pathogenic rs786204723 GRCh38 Chromosome 11, 64758454: 64758454
29 PYGM NM_005609.3(PYGM): c.78_79delTG (p.Glu27Alafs) deletion Likely pathogenic rs755117847 GRCh37 Chromosome 11, 64527292: 64527293
30 PYGM NM_005609.3(PYGM): c.1768+1G> A single nucleotide variant Pathogenic rs771427957 GRCh37 Chromosome 11, 64519395: 64519395
31 PYGM NM_005609.3(PYGM): c.2528G> T (p.Ter843Leu) single nucleotide variant Likely pathogenic rs1057516529 GRCh38 Chromosome 11, 64746660: 64746660
32 PYGM NM_005609.3(PYGM): c.2352C> A (p.Cys784Ter) single nucleotide variant Likely pathogenic rs1057517001 GRCh38 Chromosome 11, 64746948: 64746948
33 PYGM NM_005609.3(PYGM): c.2231_2244delAGCAGCTGAGCAGT (p.Glu744Glyfs) deletion Likely pathogenic rs1057517058 GRCh37 Chromosome 11, 64514764: 64514777
34 PYGM NM_005609.3(PYGM): c.2136dupT (p.Gly713Trpfs) duplication Likely pathogenic rs1057517067 GRCh38 Chromosome 11, 64750417: 64750417
35 PYGM NM_005609.3(PYGM): c.1970-1G> A single nucleotide variant Likely pathogenic rs1057516598 GRCh38 Chromosome 11, 64750584: 64750584
36 PYGM NM_005609.3(PYGM): c.1969+1G> T single nucleotide variant Likely pathogenic rs753181427 GRCh38 Chromosome 11, 64751324: 64751324
37 PYGM NM_005609.3(PYGM): c.1827+1G> C single nucleotide variant Likely pathogenic rs1057517442 GRCh38 Chromosome 11, 64751596: 64751596
38 PYGM NM_005609.3(PYGM): c.1768+2T> G single nucleotide variant Likely pathogenic rs747513238 GRCh38 Chromosome 11, 64751922: 64751922
39 PYGM NM_005609.3(PYGM): c.1717G> T (p.Glu573Ter) single nucleotide variant Likely pathogenic rs752848974 GRCh38 Chromosome 11, 64751975: 64751975
40 PYGM NM_005609.3(PYGM): c.1680delC (p.Asn561Thrfs) deletion Likely pathogenic rs1057516259 GRCh38 Chromosome 11, 64752012: 64752012
41 PYGM NM_005609.3(PYGM): c.1527_1530delGGAGinsTGA (p.Asp511Thrfs) indel Likely pathogenic rs1057516612 GRCh38 Chromosome 11, 64752493: 64752496
42 PYGM NM_005609.3(PYGM): c.1092+1G> A single nucleotide variant Likely pathogenic rs749560316 GRCh37 Chromosome 11, 64521724: 64521724
43 PYGM NM_005609.3(PYGM): c.528+2T> G single nucleotide variant Likely pathogenic rs1057516468 GRCh37 Chromosome 11, 64525716: 64525716
44 PYGM NM_005609.3(PYGM): c.445_448delGCAA (p.Ala149Hisfs) deletion Likely pathogenic rs1057517400 GRCh38 Chromosome 11, 64758326: 64758329
45 PYGM NM_005609.3(PYGM): c.425-2A> G single nucleotide variant Likely pathogenic rs752851284 GRCh37 Chromosome 11, 64525823: 64525823
46 PYGM NM_005609.3(PYGM): c.251_261delACTACCTGTCT (p.Tyr84Phefs) deletion Likely pathogenic rs1057516329 GRCh38 Chromosome 11, 64758687: 64758697
47 PYGM NM_005609.3(PYGM): c.253delT (p.Tyr85Thrfs) deletion Likely pathogenic rs1057516629 GRCh38 Chromosome 11, 64758695: 64758695
48 PYGM NM_005609.3(PYGM): c.252C> G (p.Tyr84Ter) single nucleotide variant Likely pathogenic rs1057517145 GRCh38 Chromosome 11, 64758696: 64758696
49 PYGM NM_005609.3(PYGM): c.217C> T (p.Gln73Ter) single nucleotide variant Likely pathogenic rs1057517361 GRCh38 Chromosome 11, 64759682: 64759682
50 PYGM NM_005609.3(PYGM): c.204G> A (p.Trp68Ter) single nucleotide variant Likely pathogenic rs1057516349 GRCh37 Chromosome 11, 64527167: 64527167

Expression for Mcardle Disease

Search GEO for disease gene expression data for Mcardle Disease.

Pathways for Mcardle Disease

GO Terms for Mcardle Disease

Biological processes related to Mcardle Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 glycogen metabolic process GO:0005977 9.4 GAA PYGM
2 nucleotide metabolic process GO:0009117 9.37 AMPD1 AMPD3
3 muscle cell cellular homeostasis GO:0046716 9.32 GAA PFKM
4 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.26 AMPD1 AMPD3
5 purine-containing compound salvage GO:0043101 9.16 AMPD1 AMPD3
6 IMP salvage GO:0032264 8.96 AMPD1 AMPD3
7 glycogen catabolic process GO:0005980 8.8 GAA PFKM PYGM

Molecular functions related to Mcardle Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.33 GAA PFKM PYGM
2 deaminase activity GO:0019239 8.96 AMPD1 AMPD3
3 AMP deaminase activity GO:0003876 8.62 AMPD1 AMPD3

Sources for Mcardle Disease

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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70 UMLS via Orphanet
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