GSDV
MCID: GLY004
MIFTS: 44

Glycogen Storage Disease V (GSDV) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Liver diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases categories
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Summaries for Glycogen Storage Disease V

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NIH Rare Diseases:42 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

MalaCards based summary: Glycogen Storage Disease V, also known as mcardle disease, is related to glycogen storage disease and insulin resistance, and has symptoms including abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase, autosomal recessive inheritance and myopathy. An important gene associated with Glycogen Storage Disease V is PYGM (phosphorylase, glycogen, muscle), and among its related pathways is Metabolism. The compounds carnitine and pyruvate have been mentioned in the context of this disorder.

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.

Wikipedia:65 Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage... more...

Description from OMIM:46 232600

GeneReviews summary for gsd5

Aliases & Classifications for Glycogen Storage Disease V

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Glycogen Storage Disease V, Aliases & Descriptions:

Name: Glycogen Storage Disease V 8 10
Mcardle Disease 9 19 42 21 46 48
Glycogen Storage Disease Type 5 42 20 22 21 48
Myophosphorylase Deficiency 8 19 42 21 48
Muscle Glycogen Phosphorylase Deficiency 19 42 21 62
Glycogen Storage Disease Type V 8 19 21 62
Mcardle Type Glycogen Storage Disease 42 21 62
Mcardle's Disease 8 21 62
Mcardle Syndrome 21 62
Pygm Deficiency 42 21
Glycogen Storage Disease Due to Muscle Glycogen Phosphorylase Deficiency 48
Glycogenosis Due to Muscle Glycogen Phosphorylase Deficiency 48
 
Gsd Due to Muscle Glycogen Phosphorylase Deficiency 48
Glycogen Storage Disease, Type V 8
Muscle Phosphorylase Deficiency 21
Glycogenosis Type 5 48
Glycogenosis Type V 19
Mcardles Disease 44
Glycogenosis 5 21
Gsd Type V 21
Gsd Type 5 48
Gsd V 21
Gsd 5 42
Gsdv 19


Classifications:



Characteristics (Orphanet epidemiological data):

48
mcardle disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


External Ids:

Disease Ontology8 DOID:2746
MeSH34 D006012
NCIt39 C84738
OMIM46 232600
SNOMED-CT57 55912009
MESH via Orphanet35 C537276, D006012
ICD10 via Orphanet26 E74.0
UMLS via Orphanet63 C0017924, C2936916

Related Diseases for Glycogen Storage Disease V

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Graphical network of diseases related to Glycogen Storage Disease V:



Diseases related to glycogen storage disease v

Symptoms for Glycogen Storage Disease V

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Symptoms by clinical synopsis from OMIM:

232600

Clinical features from OMIM:

232600

Symptoms:

48
  • 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 Glycogen Storage Disease V:

(show all 16)
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 autosomal recessive inheritance HP:0000007
13 abnormality of the endocrine system HP:0000818
14 multifactorial inheritance HP:0001426
15 abnormality of metabolism/homeostasis HP:0001939
16 short stature HP:0004322

Drugs & Therapeutics for Glycogen Storage Disease V

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Drug clinical trials:

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Search NIH Clinical Center for Glycogen Storage Disease V

Genetic Tests for Glycogen Storage Disease V

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Genetic tests related to Glycogen Storage Disease V:

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

Anatomical Context for Glycogen Storage Disease V

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Animal Models for Glycogen Storage Disease V or affiliated genes

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Publications for Glycogen Storage Disease V

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Variations for Glycogen Storage Disease V

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

64 (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 Glycogen Storage Disease V:

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

Expression for genes affiliated with Glycogen Storage Disease V

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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease V

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Pathways for genes affiliated with Glycogen Storage Disease V

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Pathways related to Glycogen Storage Disease V according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1CPT2, PYGM

Compounds for genes affiliated with Glycogen Storage Disease V

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Sources:
44Novoseek, 24HMDB, 28IUPHAR
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Compounds related to Glycogen Storage Disease V according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1carnitine449.3CPT2, PYGM
2pyruvate449.3CPT2, PYGM
3glycogen44 2410.3CPT2, PYGM
4hydrogen44 2410.2CPT2, PYGM
5lactate449.2PYGM, CPT2
6creatinine449.1CPT2, PYGM
7tyrosine449.1CPT2, PYGM
8atp44 2810.0CPT2, PYGM
9glucose448.8CPT2, PYGM

GO Terms for genes affiliated with Glycogen Storage Disease V

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Biological processes related to Glycogen Storage Disease V according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442819.1CPT2, PYGM

Products for genes affiliated with Glycogen Storage Disease V

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  • Antibodies
  • Proteins
  • Lysates

Sources for Glycogen Storage Disease V

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet