MCID: PHS010
MIFTS: 26

Phosphoglycerate Mutase Deficiency malady

Category: Rare diseases

Aliases & Classifications for Phosphoglycerate Mutase Deficiency

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Aliases & Descriptions for Phosphoglycerate Mutase Deficiency:

Name: Phosphoglycerate Mutase Deficiency 48 25
Myopathy Due to Phosphoglycerate Mutase Deficiency 48 25
Glycogen Storage Disease X 48 25
Pgamm Deficiency 48 25
Pgam Deficiency 48 25
Gsd10 48 25
 
Gsdx 48 25
Muscle Phosphoglycerate Mutase Deficiency 48
Deficiency Mutase Phosphoglycerate 25
Glycogen Storage Disease Type X 68
Gsd X 25

Classifications:



Summaries for Phosphoglycerate Mutase Deficiency

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Genetics Home Reference:25 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 based summary: Phosphoglycerate Mutase Deficiency, also known as myopathy due to phosphoglycerate mutase deficiency, is related to glycogen storage disease x and myopathy, and has symptoms including myalgia An important gene associated with Phosphoglycerate Mutase Deficiency is PGAM2 (Phosphoglycerate Mutase 2), and among its related pathways are Glucose metabolism and Glycosaminoglycan metabolism. Affiliated tissues include skeletal muscle, kidney and testes.

Wikipedia:71 Phosphoglycerate mutase (PGM) is an enzyme that catalyzes step 8 of glycolysis. It catalyzes the... more...

Related Diseases for Phosphoglycerate Mutase Deficiency

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Diseases related to Phosphoglycerate Mutase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease x11.9
2myopathy10.1
3glycogen storage disease10.0
4myoglobinuria10.0
5gm2-gangliosidosis, b, b1, ab variant9.5PGAM1, PGAM2

Graphical network of diseases related to Phosphoglycerate Mutase Deficiency:



Diseases related to phosphoglycerate mutase deficiency

Symptoms & Phenotypes for Phosphoglycerate Mutase Deficiency

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UMLS symptoms related to Phosphoglycerate Mutase Deficiency:


myalgia

Drugs & Therapeutics for Phosphoglycerate Mutase Deficiency

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Drugs for Phosphoglycerate Mutase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical Solutions7793

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

Search NIH Clinical Center for Phosphoglycerate Mutase Deficiency

Genetic Tests for Phosphoglycerate Mutase Deficiency

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Anatomical Context for Phosphoglycerate Mutase Deficiency

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MalaCards organs/tissues related to Phosphoglycerate Mutase Deficiency:

36
Skeletal muscle, Kidney, Testes

Publications for Phosphoglycerate Mutase Deficiency

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Articles related to Phosphoglycerate Mutase Deficiency:

(show all 15)
idTitleAuthorsYear
1
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M. (27612597)
2016
2
Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama. (23169535)
2013
3
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. (19783439)
2009
4
Muscle phosphoglycerate mutase deficiency revisited. (19273759)
2009
5
Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset. (19322572)
2009
6
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. (16881065)
2006
7
Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. (16157752)
2005
8
Muscle phosphoglycerate mutase deficiency]. (11596425)
2001
9
Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene. (10443898)
1999
10
Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy. (8082854)
1994
11
Phosphorus magnetic resonance spectroscopy of partially blocked muscle glycolysis. An in vivo study of phosphoglycerate mutase deficiency. (3034220)
1987
12
Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. (2987758)
1985
13
Effect of phosphoglycerate mutase deficiency on heterotrophic and autotrophic carbon metabolism of Alcaligenes eutrophus. (6282814)
1982
14
Muscle phosphoglycerate mutase deficiency. (6283419)
1982
15
Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. (6262916)
1981

Variations for Phosphoglycerate Mutase Deficiency

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Expression for genes affiliated with Phosphoglycerate Mutase Deficiency

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

Pathways for genes affiliated with Phosphoglycerate Mutase Deficiency

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GO Terms for genes affiliated with Phosphoglycerate Mutase Deficiency

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Biological processes related to Phosphoglycerate Mutase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1canonical glycolysisGO:00616219.7PGAM1, PGAM2
2dephosphorylationGO:00163119.6PGAM1, PGAM2
3gluconeogenesisGO:00060949.6PGAM1, PGAM2
4glycolytic processGO:00060969.2PGAM1, PGAM2
5regulation of pentose-phosphate shuntGO:00434569.1PGAM1, PGAM2

Molecular functions related to Phosphoglycerate Mutase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
12,3-bisphosphoglycerate-dependent phosphoglycerate mutase activityGO:00465389.4PGAM1, PGAM2
2bisphosphoglycerate 2-phosphatase activityGO:00040839.3PGAM1, PGAM2
3bisphosphoglycerate mutase activityGO:00040829.2PGAM1, PGAM2
4phosphoglycerate mutase activityGO:00046199.1PGAM1, PGAM2

Sources for Phosphoglycerate Mutase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet