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 46 24
Myopathy Due to Phosphoglycerate Mutase Deficiency 46 24
Glycogen Storage Disease X 46 24
Pgamm Deficiency 46 24
Pgam Deficiency 46 24
Gsd10 46 24
 
Gsdx 46 24
Muscle Phosphoglycerate Mutase Deficiency 46
Deficiency Mutase Phosphoglycerate 24
Glycogen Storage Disease Type X 66
Gsd X 24

Classifications:



Summaries for Phosphoglycerate Mutase Deficiency

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Genetics Home Reference:24 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.

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 x12.0
2myopathy10.2
3glycogen storage disease10.1
4myoglobinuria10.1
5gm2-gangliosidosis, b, b1, ab variant9.5PGAM1, PGAM2

Graphical network of diseases related to Phosphoglycerate Mutase Deficiency:



Diseases related to phosphoglycerate mutase deficiency

Symptoms 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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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:

34
Skeletal muscle, Kidney, Testes

Animal Models for Phosphoglycerate Mutase Deficiency or affiliated genes

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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:00616219.4PGAM1, PGAM2
2regulation of pentose-phosphate shuntGO:00434569.2PGAM1, PGAM2
3dephosphorylationGO:00163119.1PGAM1, PGAM2
4glycolytic processGO:00060969.1PGAM1, PGAM2
5gluconeogenesisGO:00060948.8PGAM1, PGAM2

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

idNameGO IDScoreTop Affiliating Genes
1phosphoglycerate mutase activityGO:00046199.3PGAM1, PGAM2
2bisphosphoglycerate 2-phosphatase activityGO:00040839.1PGAM1, PGAM2
3bisphosphoglycerate mutase activityGO:00040829.0PGAM1, PGAM2
42,3-bisphosphoglycerate-dependent phosphoglycerate mutase activityGO:00465388.8PGAM1, PGAM2

Sources for Phosphoglycerate Mutase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet