GSDX
MCID: PHS010
MIFTS: 39

Phosphoglycerate Mutase Deficiency (GSDX) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Phosphoglycerate Mutase Deficiency

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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.

MalaCards: Phosphoglycerate Mutase Deficiency, also known as glycogen storage disease x, is related to myopathy and glycogen storage disease. An important gene associated with Phosphoglycerate Mutase Deficiency is PGAM2 (phosphoglycerate mutase 2 (muscle)), and among its related pathways are MPS VI - Maroteaux-Lamy syndrome and Carbon metabolism. The compounds 2,3-Diphosphoglyceric acid and 2-Phosphoglyceric acid have been mentioned in the context of this disorder. Affiliated tissues include testes.

Wikipedia:65 Phosphoglycerate mutase (PGM) is an enzyme that catalyzes step 8 of glycolysis. It catalyzes the... more...

Description from OMIM:47 261670

Aliases & Classifications for Phosphoglycerate Mutase Deficiency

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49

Aliases & Descriptions:

phosphoglycerate mutase deficiency 43 21
glycogen storage disease x 43 20 22 21 47
myopathy due to phosphoglycerate mutase deficiency 43 21 49
muscle phosphoglycerate mutase deficiency 43 49
pgamm deficiency 43 21
pgam deficiency 43 21
gsd10 43 21
gsdx 43 21
glycogen storage disease due to phosphoglycerate mutase deficiency 49
glycogenosis due to phosphoglycerate mutase deficiency 49
gsd due to phosphoglycerate mutase deficiency 49
deficiency mutase phosphoglycerate 21
glycogen storage disease type x 62
gsd x 21


External Ids:

SNOMED-CT via Orphanet59 37666005, 61772003
OMIM47 261670
ICD10 via Orphanet26 E74.0

Related Diseases for Phosphoglycerate Mutase Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Phosphoglycerate Mutase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.5
2glycogen storage disease10.0PGAM1, PGAM2

Symptoms for Phosphoglycerate Mutase Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

261670

Clinical features from OMIM:

261670

Drugs & Therapeutics for Phosphoglycerate Mutase Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Phosphoglycerate Mutase Deficiency

Search NIH Clinical Center for Phosphoglycerate Mutase Deficiency

Genetic Tests for Phosphoglycerate Mutase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Phosphoglycerate Mutase Deficiency:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type X20 22 PGAM2

Anatomical Context for Phosphoglycerate Mutase Deficiency

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33MalaCards
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MalaCards organs/tissues related to Phosphoglycerate Mutase Deficiency:

33
Testes

Animal Models for Phosphoglycerate Mutase Deficiency or affiliated genes

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Publications for Phosphoglycerate Mutase Deficiency

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Sources:
52PubMed
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Articles related to Phosphoglycerate Mutase Deficiency:

(show all 14)
idTitleAuthorsYear
1
Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama. (23169535)
2013
2
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. (19783439)
2009
3
Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset. (19322572)
2009
4
Muscle phosphoglycerate mutase deficiency revisited. (19273759)
2009
5
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. (16881065)
2006
6
Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. (16157752)
2005
7
Muscle phosphoglycerate mutase deficiency]. (11596425)
2001
8
Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene. (10443898)
1999
9
Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy. (8082854)
1994
10
Phosphorus magnetic resonance spectroscopy of partially blocked muscle glycolysis. An in vivo study of phosphoglycerate mutase deficiency. (3034220)
1987
11
Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. (2987758)
1985
12
Effect of phosphoglycerate mutase deficiency on heterotrophic and autotrophic carbon metabolism of Alcaligenes eutrophus. (6282814)
1982
13
Muscle phosphoglycerate mutase deficiency. (6283419)
1982
14
Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. (6262916)
1981

Variations for Phosphoglycerate Mutase Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Phosphoglycerate Mutase Deficiency:

64
id Symbol AA change Variation ID SNP ID
1PGAM2p.Glu89AlaVAR_006088
2PGAM2p.Arg90TrpVAR_006089
3PGAM2p.Gly97AspVAR_013103

Clinvar genetic disease variations for Phosphoglycerate Mutase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PGAM2NM_000290.3(PGAM2): c.233G> A (p.Trp78Ter)single nucleotide variantPathogenicrs10250779GRCh37Chr 7, 44104896: 44104896
2PGAM2NM_000290.3(PGAM2): c.266A> C (p.Glu89Ala)single nucleotide variantPathogenicrs104894030GRCh37Chr 7, 44104863: 44104863
3PGAM2NM_000290.3(PGAM2): c.268C> T (p.Arg90Trp)single nucleotide variantPathogenicrs104894034GRCh37Chr 7, 44104861: 44104861
4PGAM2NM_000290.3(PGAM2): c.290G> A (p.Gly97Asp)single nucleotide variantPathogenicrs77938727GRCh37Chr 7, 44104839: 44104839

Expression for genes affiliated with Phosphoglycerate Mutase Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Phosphoglycerate Mutase Deficiency

Search GEO for disease gene expression data for Phosphoglycerate Mutase Deficiency.

Pathways for genes affiliated with Phosphoglycerate Mutase Deficiency

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 60Thomson Reuters
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Pathways related to Phosphoglycerate Mutase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1PGAM1, PGAM2
2
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.1PGAM1, PGAM2
3
Show member pathways
glycolysis38
gluconeogenesis38
Glycolysis and Gluconeogenesis38
9.1PGAM2, PGAM1
4
Show member pathways
malate-aspartate shuttle38
glycogen biosynthesis II (from UDP-D-Glucose)38
9.1PGAM1, PGAM2
5
Show member pathways
choline degradation I38
glycine biosynthesis III38
serine and glycine biosynthesis38
glycine betaine degradation38
glycine biosynthesis38
9.1PGAM1, PGAM2

Compounds for genes affiliated with Phosphoglycerate Mutase Deficiency

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24HMDB, 11DrugBank
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Compounds related to Phosphoglycerate Mutase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
12,3-Diphosphoglyceric acid249.1PGAM1, PGAM2
22-Phosphoglyceric acid249.1PGAM1, PGAM2
32-Phospho-D-glyceric acid24 1110.0PGAM1, PGAM2
43-Phosphoglyceric acid24 119.8PGAM1, PGAM2

GO Terms for genes affiliated with Phosphoglycerate Mutase Deficiency

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Sources:
16Gene Ontology
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Biological processes related to Phosphoglycerate Mutase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:0060949.2PGAM1, PGAM2
2glycolytic processGO:0060969.1PGAM1, PGAM2
3small molecule metabolic processGO:0442819.1PGAM1, PGAM2
4glucose metabolic processGO:0060069.0PGAM2, PGAM1
5carbohydrate metabolic processGO:0059758.8PGAM1, PGAM2

Molecular functions related to Phosphoglycerate Mutase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphoglycerate mutase activityGO:0046199.1PGAM1, PGAM2
2bisphosphoglycerate mutase activityGO:0040829.0PGAM1, PGAM2
3bisphosphoglycerate 2-phosphatase activityGO:0040838.8PGAM1, PGAM2

Products for genes affiliated with Phosphoglycerate Mutase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phosphoglycerate Mutase Deficiency

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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