MCID: MCR264
MIFTS: 55

Mcardle Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Mcardle Disease

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OMIM:45 McArdle disease is an autosomal recessive metabolic disorder characterized by onset of exercise intolerance and muscle... (232600) more...

MalaCards based summary: Mcardle Disease, also known as myophosphorylase deficiency, is related to glycogen storage disease and acute kidney failure, and has symptoms including myopathy, renal insufficiency and abnormality of the cardiovascular system. An important gene associated with Mcardle Disease is PYGM (phosphorylase, glycogen, muscle), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Metabolism. The compounds Inosinic acid and phosphocreatine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and kidney, and related mouse phenotypes are adipose tissue and muscle.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 Glycogen storage disease type 5 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. signs and symptoms may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. symptoms tend to begin in early adulthood (20s-30s). it is caused by mutations in the pygm gene and is inherited in an autosomal recessive fashion. last updated: 4/15/2010

Wikipedia:63 Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage... more...

GeneReviews summary for gsd5

Aliases & Classifications for Mcardle Disease

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 9Disease Ontology, 11DISEASES, 60UMLS, 20GeneTests, 22GTR, 43Novoseek, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Mcardle Disease, Aliases & Descriptions:

Name: Mcardle Disease 45 10 19 41 21 47
Myophosphorylase Deficiency 9 19 41 21 47 60
Glycogen Storage Disease Type 5 41 20 21 47 22
Glycogen Storage Disease Type V 9 19 21 60
Muscle Glycogen Phosphorylase Deficiency 19 41 21
Glycogen Storage Disease V 45 9 11
Glycogen Storage Disease Due to Muscle Glycogen Phosphorylase Deficiency 41 47
Glycogenosis Due to Muscle Glycogen Phosphorylase Deficiency 41 47
Gsd Due to Muscle Glycogen Phosphorylase Deficiency 41 47
Mcardle Type Glycogen Storage Disease 41 21
Glycogenosis Type 5 41 47
Mcardle's Disease 9 21
Pygm Deficiency 41 21
 
Gsd Type 5 41 47
Glycogen Storage Disease, Type V 9
Phosphorylase, Glycogen, Muscle 10
Muscle Phosphorylase Deficiency 21
Glycogenosis Type V 19
Mcardles Disease 43
Mcardle Syndrome 21
Glycogenosis 5 21
Gsd Type V 21
Gsd 5 41
Gsd V 21
Gsdv 19


Classifications:



Characteristics (Orphanet epidemiological data):

47
myophosphorylase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy


External Ids:

OMIM45 232600
Disease Ontology9 DOID:2746
NCIt38 C84738
MeSH33 D006012
SNOMED-CT55 55912009
Orphanet47 368
MESH via Orphanet34 C537276, D006012
ICD10 via Orphanet26 E74.0
UMLS via Orphanet61 C0017924, C2936916

Related Diseases for Mcardle Disease

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Diseases related to Mcardle Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease30.9AMPD1, PYGM
2acute kidney failure30.4PYGM, CHKB
3myositis30.3MSTN, CHKB
4muscular dystrophy30.3ACTN3, MSTN, CHKB
5obesity30.0PPARGC1A, MSTN, IL17A
6myopathy29.9PYGM, AMPD1, CHKB, MSTN
7hypercholesterolemia, familial10.2
8mitochondrial disorders10.2CHKB, PYGM
9myopathy congenital10.2CHKB, PYGM
10duchenne muscular dystrophy10.2MSTN, CHKB
11sudden infant death syndrome10.2
12limb-girdle muscular dystrophy10.2
13atrial fibrillation10.1ACE, CHKB
14myoglobinuria, acute recurrent, autosomal recessive10.1
15dermatomyositis10.1IL17A, CHKB
16polymyositis10.1IL17A, CHKB
17inclusion body myositis10.1
18uveitis10.1IL17A, ACE
19nephritis10.0IL17A, ACE
20dilated cardiomyopathy10.0ACE, CHKB
21neuromuscular disease10.0MSTN, CHKB, AMPD1
22nephrotic syndrome10.0IL17A, ACE
23primary hyperoxaluria10.0PYGM, CHKB, ACE
24congestive heart failure10.0ACE, CHKB, AMPD1
25coronary artery disease10.0ACE, CHKB, AMPD1
26congenital heart disease10.0ACE, CHKB
27systemic scleroderma10.0IL17A, ACE
28non-suppurative otitis media9.9CHKB, MSTN, IL17A
29familial hyperlipidemia9.9PPARGC1A, ACE
30ischemia9.9AMPD1, CHKB, IL17A
31hyperglycemia9.9PPARGC1A, PYGM, ACE
32acute myocardial infarction9.9CHKB, ACE
33diabetes mellitus, noninsulin-dependent9.9PPARGC1A, PYGM, ACE
34diabetes mellitus, insulin-dependent9.8ACE, PYGM, PPARGC1A
35noonan syndrome 19.8ACE, CHKB, PPARGC1A
36rheumatoid arthritis9.8IL17A, CHKB, AMPD1
37metabolic syndrome x9.7PPARGC1A, PYGM, CHKB, MSTN
38atherosclerosis9.7PPARGC1A, ACE, IL17A

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



Diseases related to mcardle disease

Symptoms for Mcardle Disease

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Symptoms by clinical synopsis from OMIM:

232600

Clinical features from OMIM:

232600

Symptoms:

 47
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • myopathy
  • structural anomalies of the cardio-circulatory system
  • renal failure

HPO human phenotypes related to Mcardle Disease:

(show all 15)
id Description Frequency HPO Source Accession
1 myopathy typical (50%) HP:0003198
2 renal insufficiency occasional (7.5%) HP:0000083
3 abnormality of the cardiovascular system occasional (7.5%) HP:0001626
4 autosomal recessive inheritance HP:0000007
5 muscle weakness HP:0001324
6 myoglobinuria HP:0002913
7 rhabdomyolysis HP:0003201
8 elevated serum creatine phosphokinase HP:0003236
9 adult onset HP:0003581
10 exercise-induced muscle cramps HP:0003710
11 exercise-induced myalgia HP:0003738
12 abnormality of the endocrine system HP:0000818
13 multifactorial inheritance HP:0001426
14 abnormality of metabolism/homeostasis HP:0001939
15 short stature HP:0004322

Drugs & Therapeutics for Mcardle Disease

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Drug clinical trials:

Search ClinicalTrials for Mcardle Disease

Search NIH Clinical Center for Mcardle Disease

Genetic Tests for Mcardle Disease

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Genetic tests related to Mcardle Disease:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type V20 PYGM
2 Glycogen Storage Disease, Type V22

Anatomical Context for Mcardle Disease

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MalaCards organs/tissues related to Mcardle Disease:

31
Skeletal muscle, Kidney

Animal Models for Mcardle Disease or affiliated genes

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MGI Mouse Phenotypes related to Mcardle Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7ACE, MSTN, PPARGC1A
2MP:00053698.0PPARGC1A, CHKB, MSTN, ACTN3
3MP:00053767.1IL17A, ACE, ACTN3, MSTN, CHKB, PPARGC1A

Publications for Mcardle Disease

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Articles related to Mcardle Disease:

(show all 46)
idTitleAuthorsYear
1
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (25391139)
2014
2
Severe Axial Myopathy in McArdle Disease. (24216972)
2014
3
McArdle disease: a novel mutation in Jewish families from the Caucasus region. (22608882)
2012
4
Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease). (21658951)
2011
5
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern. (21880526)
2011
6
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (21154353)
2010
7
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. (19433441)
2009
8
McArdle disease and sporadic inclusion body myositis. (19220759)
2009
9
Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease? (19232494)
2009
10
McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. (19878922)
2009
11
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. (19251976)
2009
12
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease. (19472443)
2009
13
McArdle disease: another systemic low-inflammation disorder? (18162322)
2008
14
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. (17994553)
2008
15
A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay. (18667317)
2008
16
Recurrent acute kidney failure due to McArdle disease. (19377243)
2008
17
McArdle disease: what do neurologists need to know? (18833216)
2008
18
The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease. (17616548)
2008
19
Acute renal failure due to rhabdomyolysis in a child with McArdle disease. (17899190)
2008
20
McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients]. (18808785)
2008
21
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (18425888)
2008
22
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. (17404776)
2007
23
Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation. (17324573)
2007
24
Massive rhabdomyolysis revealing a McArdle disease]. (17383055)
2007
25
Genotype modulators of clinical severity in McArdle disease. (17630210)
2007
26
McArdle disease: molecular genetic update. (17915571)
2007
27
Do carriers of PYGM mutations have symptoms of McArdle disease? (16924035)
2006
28
Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. (16434679)
2006
29
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. (16786513)
2006
30
Novel mutation in the PYGM gene resulting in McArdle disease. (17172620)
2006
31
A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease. (15979037)
2005
32
A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease. (15262743)
2004
33
Pathologic quiz case: a man with exertion-induced cramps and myoglobinuria. McArdle disease (glycogenosis type V or myophosphorylase deficiency). (12951997)
2003
34
Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. (12223025)
2002
35
Myophosphorylase deficiency (glycogenosis type V; McArdle disease). (11949935)
2002
36
McArdle disease: report of four brothers with myophosphorylase deficiency]. (11594178)
2001
37
A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease. (11749054)
2001
38
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. (10681080)
2000
39
Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial. (10891977)
2000
40
Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation. (9633816)
1998
41
Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. (9152836)
1997
42
Three new mutations in patients with myophosphorylase deficiency (McArdle disease). (8279469)
1994
43
Clinical spectrum of McArdle disease: three cases with unusual expression. (8467839)
1993
44
Non-invasive 31P magnetic resonance spectroscopy revealed McArdle disease in an asymptomatic child. (2347342)
1990
45
Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence. (1701414)
1990
46
McArdle disease in a Druze family. (2703328)
1989

Variations for Mcardle Disease

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

62 (show all 17)
id Symbol AA change Variation ID SNP ID
1PYGMp.Gly205SerVAR_003431rs119103251
2PYGMp.Leu397ProVAR_003432
3PYGMp.Lys543ThrVAR_003433
4PYGMp.Glu655LysVAR_003434
5PYGMp.Leu116ProVAR_014002
6PYGMp.Arg194TrpVAR_014003
7PYGMp.Leu292ProVAR_014004
8PYGMp.Glu349LysVAR_014005
9PYGMp.Thr488AsnVAR_014006
10PYGMp.Arg602TrpVAR_014007
11PYGMp.Ala660AspVAR_014008
12PYGMp.Gln666GluVAR_014009
13PYGMp.Asn685TyrVAR_014010
14PYGMp.Gly686ArgVAR_014011
15PYGMp.Ala687ProVAR_014012
16PYGMp.Ala704ValVAR_014013
17PYGMp.Trp798ArgVAR_014015

Clinvar genetic disease variations for Mcardle Disease:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1PYGMNM_005609.2(PYGM): c.255C> A (p.Tyr85Ter)single nucleotide variantPathogenicGRCh38Chr 11, 64758693: 64758693
2PYGMNM_005609.2(PYGM): c.2128_2130delTTC (p.Phe710del)deletionPathogenicGRCh38Chr 11, 64750423: 64750425
3PYGMNM_005609.2(PYGM): c.148C> T (p.Arg50Ter)single nucleotide variantPathogenicrs116987552GRCh37Chr 11, 64527223: 64527223
4PYGMNM_005609.2(PYGM): c.613G> A (p.Gly205Ser)single nucleotide variantPathogenicrs119103251GRCh37Chr 11, 64525298: 64525298
5PYGMNM_005609.2(PYGM): c.1628A> C (p.Lys543Thr)single nucleotide variantPathogenicrs119103252GRCh37Chr 11, 64519536: 64519536
6PYGMPYGM, MET1GLYundetermined variantPathogenic
7PYGMNM_005609.2(PYGM): c.1963G> A (p.Glu655Lys)single nucleotide variantPathogenicrs119103253GRCh37Chr 11, 64518803: 64518803
8PYGMNM_005609.2(PYGM): c.1996C> G (p.Gln666Glu)single nucleotide variantPathogenicrs119103256GRCh37Chr 11, 64518029: 64518029
9PYGMNM_005609.2(PYGM): c.1187T> C (p.Leu396Pro)single nucleotide variantPathogenicrs119103254GRCh37Chr 11, 64521403: 64521403
10PYGMPYGM, IVS14, G-A, +1deletionPathogenic
11PYGMNM_005609.2(PYGM): c.2056G> A (p.Gly686Arg)single nucleotide variantPathogenicrs144081869GRCh37Chr 11, 64517969: 64517969
12PYGMNM_005609.2(PYGM): c.1726C> T (p.Arg576Ter)single nucleotide variantPathogenicrs119103255GRCh37Chr 11, 64519438: 64519438
13PYGMPYGM, 1-BP DEL, A, CODON 753deletionPathogenic
14PYGMNM_005609.2(PYGM): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs267606993GRCh37Chr 11, 64527370: 64527370
15PYGMNM_005609.2(PYGM): c.1621G> T (p.Glu541Ter)single nucleotide variantPathogenicrs119103257GRCh37Chr 11, 64519543: 64519543
16PYGMPYGM, 1-BP INS, A/8-BP DEL, CODON 387indelPathogenic
17PYGMNM_005609.2(PYGM): c.2392T> C (p.Trp798Arg)single nucleotide variantPathogenicrs119103258GRCh37Chr 11, 64514268: 64514268
18PYGMNM_005609.2(PYGM): c.1827G> A (p.Lys609=)single nucleotide variantPathogenicrs119103259GRCh37Chr 11, 64519069: 64519069
19PYGMNM_005609.2(PYGM): c.1722T> G (p.Tyr574Ter)single nucleotide variantPathogenicrs119103260GRCh37Chr 11, 64519442: 64519442
20PYGMNM_005609.2(PYGM): c.152A> G (p.Asp51Gly)single nucleotide variantPathogenicrs397514631GRCh37Chr 11, 64527219: 64527219
21PYGMPYGM, 3-BP DEL, 158ACTdeletionPathogenic
22PYGMNM_005609.2(PYGM): c.645G> A (p.Lys215=)single nucleotide variantPathogenicrs116315896GRCh37Chr 11, 64525266: 64525266

Expression for genes affiliated with Mcardle Disease

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Search GEO for disease gene expression data for Mcardle Disease.

Pathways for genes affiliated with Mcardle Disease

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Pathways related to Mcardle Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.6ACE, ACTN3
2
Show member pathways
8.4CHKB, AMPD1, PYGM, PPARGC1A

Compounds for genes affiliated with Mcardle Disease

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Compounds related to Mcardle Disease according to GeneCards Suite gene sharing:

(show all 30)
idCompoundScoreTop Affiliating Genes
1Inosinic acid24 1211.1AMPD1, PYGM
2phosphocreatine43 2410.9PYGM, CHKB
3glucose 6-phosphate43 2410.8PYGM, CHKB
4amiodarone43 49 28 1212.8CHKB, ACE
5diltiazem43 28 49 1212.8CHKB, ACE
6clopidogrel43 49 24 1212.7CHKB, ACE
7nitroglycerin43 1210.7CHKB, ACE
8fluvastatin43 49 28 1212.7CHKB, ACE
9pravastatin43 49 28 24 1213.7CHKB, ACE
10atorvastatin43 49 28 24 1213.5CHKB, ACE
11lactate439.5CHKB, AMPD1, PYGM
12metformin43 49 1211.4ACE, PPARGC1A
13caffeine43 28 2 49 24 1214.3PYGM, PPARGC1A
14methotrexate49 43 1211.3AMPD1, CHKB, IL17A
15pyruvate439.2CHKB, PYGM, PPARGC1A
16citrate439.1CHKB, PPARGC1A
17glycogen43 2410.1CHKB, PYGM, PPARGC1A
18norepinephrine43 24 1210.9ACE, CHKB, PPARGC1A
19testosterone43 59 24 1211.9MSTN, CHKB, PPARGC1A
20creatinine438.8PYGM, CHKB, ACE, IL17A
21carnitine438.8CHKB, AMPD1, PYGM, PPARGC1A
22cholesterol43 28 24 1211.8PPARGC1A, CHKB, ACE
23atp43 289.7CHKB, AMPD1, PYGM, PPARGC1A
24steroid438.6IL17A, CHKB, PPARGC1A
25oxygen43 249.6PPARGC1A, AMPD1, CHKB, MSTN
26arginine438.5CHKB, PYGM, PPARGC1A
27dexamethasone43 49 28 1211.4PPARGC1A, CHKB, MSTN, IL17A
28vegf438.4PPARGC1A, CHKB, IL17A
29nitric oxide43 24 1210.3IL17A, ACE, CHKB, PPARGC1A
30glucose437.8PPARGC1A, PYGM, AMPD1, CHKB, MSTN, ACE

GO Terms for genes affiliated with Mcardle Disease

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Cellular components related to Mcardle Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.0ACTN3, CHKB, AMPD1, PYGM, PPARGC1A

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

idNameGO IDScoreTop Affiliating Genes
1response to muscle activityGO:00148509.2MSTN, PPARGC1A

Products for genes affiliated with Mcardle Disease

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Sources for Mcardle Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet