MCID: PHS010
MIFTS: 22

Phosphoglycerate Mutase Deficiency malady

Rare diseases category

Aliases & Classifications for Phosphoglycerate Mutase Deficiency

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Aliases & Descriptions for Phosphoglycerate Mutase Deficiency:

Name: Phosphoglycerate Mutase Deficiency 45 23
Myopathy Due to Phosphoglycerate Mutase Deficiency 45 23
Glycogen Storage Disease X 45 23
Pgamm Deficiency 45 23
Pgam Deficiency 45 23
Gsd10 45 23
 
Gsdx 45 23
Muscle Phosphoglycerate Mutase Deficiency 45
Deficiency Mutase Phosphoglycerate 23
Glycogen Storage Disease Type X 65
Gsd X 23


Classifications:



Summaries for Phosphoglycerate Mutase Deficiency

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Genetics Home Reference:23 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 due to phosphoglycerate mutase deficiency and glycogen storage disease x. An important gene associated with Phosphoglycerate Mutase Deficiency is PGAM2 (Phosphoglycerate Mutase 2 (Muscle)), and among its related pathways are Glucose metabolism and Carbon metabolism. Affiliated tissues include skeletal muscle, kidney and testes.

Wikipedia:68 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 due to phosphoglycerate mutase deficiency10.8
2glycogen storage disease x10.6
3myopathy10.5
4phosphomannoisomerase deficiency9.8PGAM1, PGAM2

Symptoms for Phosphoglycerate Mutase Deficiency

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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 MyopathyNot yet recruitingNCT02635269

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:

33
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 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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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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Pathways related to Phosphoglycerate Mutase Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1PGAM1, PGAM2
2
Show member pathways
9.1PGAM1, PGAM2
3
Show member pathways
9.1PGAM1, PGAM2
49.1PGAM1, PGAM2
59.1PGAM1, PGAM2
6
Show member pathways
9.1PGAM1, PGAM2

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:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1regulation of pentose-phosphate shuntGO:00434569.8PGAM1, PGAM2
2glycolytic processGO:00060969.7PGAM1, PGAM2
3canonical glycolysisGO:00616219.6PGAM1, PGAM2
4gluconeogenesisGO:00060949.5PGAM1, PGAM2
5glucose metabolic processGO:00060069.5PGAM1, PGAM2
6carbohydrate metabolic processGO:00059759.4PGAM1, PGAM2
7dephosphorylationGO:00163119.1PGAM1, PGAM2
8protein dephosphorylationGO:00064708.8PGAM1, PGAM2

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

idNameGO IDScoreTop Affiliating Genes
1bisphosphoglycerate mutase activityGO:00040829.7PGAM1, PGAM2
2bisphosphoglycerate 2-phosphatase activityGO:00040839.7PGAM1, PGAM2
3phosphoglycerate mutase activityGO:00046199.7PGAM1, PGAM2
42,3-bisphosphoglycerate-dependent phosphoglycerate mutase activityGO:00465389.7PGAM1, PGAM2
5intramolecular transferase activity, phosphotransferasesGO:00168689.6PGAM1, PGAM2
6catalytic activityGO:00038249.1PGAM1, PGAM2

Sources for Phosphoglycerate Mutase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet