MCID: PHS010
MIFTS: 28

Phosphoglycerate Mutase Deficiency malady

Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Phosphoglycerate Mutase Deficiency

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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 based summary: Phosphoglycerate Mutase Deficiency, also known as myopathy due to phosphoglycerate mutase deficiency, is related to glycogen storage disease x and myopathy. 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 skeletal muscle, kidney and testes.

Wikipedia:63 Phosphoglycerate mutase (PGM) is an enzyme that catalyzes step 8 of glycolysis. It catalyzes the... more...

Aliases & Classifications for Phosphoglycerate Mutase Deficiency

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Phosphoglycerate Mutase Deficiency, Aliases & Descriptions:

Name: Phosphoglycerate Mutase Deficiency 41 21
Myopathy Due to Phosphoglycerate Mutase Deficiency 41 21 47
Glycogen Storage Disease Due to Phosphoglycerate Mutase Deficiency 41 47
Glycogenosis Due to Phosphoglycerate Mutase Deficiency 41 47
Gsd Due to Phosphoglycerate Mutase Deficiency 41 47
Muscle Phosphoglycerate Mutase Deficiency 41 47
Glycogen Storage Disease X 41 21
Pgamm Deficiency 41 21
 
Pgam Deficiency 41 21
Gsd Type 10 41 47
Gsd10 41 21
Gsdx 41 21
Deficiency Mutase Phosphoglycerate 21
Glycogen Storage Disease Type X 60
Gsd X 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
myopathy due to phosphoglycerate mutase deficiency:
Prevalence: <1/1000000 (Worldwide)


External Ids:

Orphanet47 97234
ICD10 via Orphanet26 E74.0

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 x10.6
2myopathy10.5
3glycogen storage disease9.9PGAM1, PGAM2

Symptoms for Phosphoglycerate Mutase Deficiency

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Drugs & Therapeutics for Phosphoglycerate Mutase Deficiency

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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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Anatomical Context for Phosphoglycerate Mutase Deficiency

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MalaCards organs/tissues related to Phosphoglycerate Mutase Deficiency:

31
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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Clinvar genetic disease variations for Phosphoglycerate Mutase Deficiency:

6
id Gene Variation 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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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
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.1PGAM1, PGAM2
3
Show member pathways
glycolysis36
gluconeogenesis36
Glycolysis and Gluconeogenesis36
9.1PGAM2, PGAM1
4
Show member pathways
malate-aspartate shuttle36
glycogen biosynthesis II (from UDP-D-Glucose)36
9.1PGAM1, PGAM2
5
Show member pathways
choline degradation I36
glycine biosynthesis III36
serine and glycine biosynthesis36
glycine betaine degradation36
glycine biosynthesis36
9.1PGAM1, PGAM2

Compounds for genes affiliated with Phosphoglycerate Mutase Deficiency

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Compounds related to Phosphoglycerate Mutase Deficiency according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
12,3-Diphosphoglyceric acid249.1PGAM1, PGAM2
22-Phosphoglyceric acid249.1PGAM1, PGAM2
32-Phospho-D-glyceric acid24 1210.0PGAM1, PGAM2
43-Phosphoglyceric acid24 129.8PGAM1, 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:

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:00060949.2PGAM1, PGAM2
2glycolytic processGO:00060969.1PGAM1, PGAM2
3small molecule metabolic processGO:00442819.1PGAM1, PGAM2
4glucose metabolic processGO:00060069.0PGAM2, PGAM1
5carbohydrate metabolic processGO:00059758.8PGAM1, PGAM2

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

idNameGO IDScoreTop Affiliating Genes
1phosphoglycerate mutase activityGO:00046199.1PGAM1, PGAM2
2bisphosphoglycerate mutase activityGO:00040829.0PGAM1, PGAM2
3bisphosphoglycerate 2-phosphatase activityGO:00040838.8PGAM1, PGAM2

Products for genes affiliated with Phosphoglycerate Mutase Deficiency

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  • Antibodies
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Sources for Phosphoglycerate Mutase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet