GSDV
MCID: GLY004
MIFTS: 43

Glycogen Storage Disease V (GSDV) malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Cardiovascular diseases, Blood diseases, Endocrine diseases, Muscle diseases, Nephrological diseases categories
Download this MalaCard

Summaries for Glycogen Storage Disease V

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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: Glycogen Storage Disease V, also known as mcardle disease, is related to glycogen storage disease and insulin resistance, and has symptoms including autosomal recessive inheritance, myopathy and renal failure. 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:47 232600

GeneReviews summary for gsd5

Aliases & Classifications for Glycogen Storage Disease V

About this section
Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
mcardle disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

glycogen storage disease v 8 10
mcardle disease 9 19 43 21 47 49
glycogen storage disease type 5 43 20 22 21 49
myophosphorylase deficiency 8 19 43 21 49
glycogen storage disease type v 8 19 21 62
muscle glycogen phosphorylase deficiency 19 43 21
mcardle type glycogen storage disease 43 21
mcardle's disease 8 21
pygm deficiency 43 21
glycogen storage disease due to muscle glycogen phosphorylase deficiency 49
glycogenosis due to muscle glycogen phosphorylase deficiency 49
gsd due to muscle glycogen phosphorylase deficiency 49
glycogen storage disease, type v 8
muscle phosphorylase deficiency 21
glycogenosis type 5 49
glycogenosis type v 19
mcardle syndrome 21
glycogenosis 5 21
gsd type v 21
gsd type 5 49
gsd v 21
gsd 5 43
gsdv 19


External Ids:

Disease Ontology8 DOID:2746
MeSH35 D006012
OMIM47 232600
NCIt40 C84738
SNOMED-CT58 55912009
SNOMED-CT via Orphanet59 55912009
UMLS via Orphanet63 C0017924, C2936916
MESH via Orphanet36 C537276, D006012
ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease V

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Glycogen Storage Disease V:



Diseases related to glycogen storage disease v

Symptoms for Glycogen Storage Disease V

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

232600

Clinical features from OMIM:

232600

Symptoms:

49
  • autosomal recessive inheritance
  • myopathy
  • renal failure
  • structural anomalies of the cardio-circulatory system
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase

Drugs & Therapeutics for Glycogen Storage Disease V

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease V

Search NIH Clinical Center for Glycogen Storage Disease V

Genetic Tests for Glycogen Storage Disease V

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section

Animal Models for Glycogen Storage Disease V or affiliated genes

About this section

Publications for Glycogen Storage Disease V

About this section

Variations for Glycogen Storage Disease V

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

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:

1 (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 variantBenign, Pathogenicrs116315896GRCh37Chr 11, 64525266: 64525266

Expression for genes affiliated with Glycogen Storage Disease V

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease V

Search GEO for disease gene expression data for Glycogen Storage Disease V.

Pathways for genes affiliated with Glycogen Storage Disease V

About this section
Sources:
50PathCards, 55Reactome, 30KEGG
See all sources

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

About this section
Sources:
45Novoseek, 24HMDB, 29IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1carnitine459.3CPT2, PYGM
2pyruvate459.3CPT2, PYGM
3glycogen45 2410.3CPT2, PYGM
4hydrogen45 2410.2CPT2, PYGM
5lactate459.2PYGM, CPT2
6creatinine459.1CPT2, PYGM
7tyrosine459.1CPT2, PYGM
8atp45 2910.0CPT2, PYGM
9glucose458.8CPT2, PYGM

GO Terms for genes affiliated with Glycogen Storage Disease V

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease V

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet