GSDX
MCID: PHS010
MIFTS: 40

Phosphoglycerate Mutase Deficiency (GSDX) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
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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 glycogen storage disease x, is related to myopathy and glycogen storage disease, and has symptoms including 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:65 Phosphoglycerate mutase (PGM) is an enzyme that catalyzes step 8 of glycolysis. It catalyzes the... more...

Description from OMIM:46 261670

Aliases & Classifications for Phosphoglycerate Mutase Deficiency

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Phosphoglycerate Mutase Deficiency, Aliases & Descriptions:

Name: Phosphoglycerate Mutase Deficiency 42 21 62
Glycogen Storage Disease X 42 20 22 21 46
Myopathy Due to Phosphoglycerate Mutase Deficiency 42 21 48 62
Muscle Phosphoglycerate Mutase Deficiency 42 48 62
Pgam Deficiency 42 21 62
Deficiency Mutase Phosphoglycerate 21 62
Pgamm Deficiency 42 21
 
Gsd10 42 21
Gsdx 42 21
Glycogen Storage Disease Due to Phosphoglycerate Mutase Deficiency 48
Glycogenosis Due to Phosphoglycerate Mutase Deficiency 48
Gsd Due to Phosphoglycerate Mutase Deficiency 48
Glycogen Storage Disease Type X 62
Gsd X 21


Classifications:



Characteristics (Orphanet epidemiological data):

48

External Ids:

OMIM46 261670
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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.5
2glycogen storage disease9.9PGAM1, PGAM2

Symptoms for Phosphoglycerate Mutase Deficiency

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Symptoms by clinical synopsis from OMIM:

261670

Clinical features from OMIM:

261670

HPO human phenotypes related to Phosphoglycerate Mutase Deficiency:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 renal insufficiency HP:0000083
3 myoglobinuria HP:0002913
4 myopathy HP:0003198
5 rhabdomyolysis HP:0003201
6 elevated serum creatine phosphokinase HP:0003236
7 exercise intolerance HP:0003546
8 exercise-induced muscle cramps HP:0003710
9 exercise-induced myalgia HP:0003738

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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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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MalaCards organs/tissues related to Phosphoglycerate Mutase Deficiency:

32
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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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:

6
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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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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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 degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.1PGAM1, PGAM2
3
Show member pathways
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
9.1PGAM2, PGAM1
4
Show member pathways
malate-aspartate shuttle37
glycogen biosynthesis II (from UDP-D-Glucose)37
9.1PGAM1, PGAM2
5
Show member pathways
choline degradation I37
glycine biosynthesis III37
serine and glycine biosynthesis37
glycine betaine degradation37
glycine biosynthesis37
9.1PGAM1, PGAM2

Compounds for genes affiliated with Phosphoglycerate Mutase Deficiency

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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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Biological processes related to Phosphoglycerate Mutase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:0060949.2PGAM2, PGAM1
2glycolytic processGO:0060969.1PGAM2, PGAM1
3small molecule metabolic processGO:0442819.1PGAM1, PGAM2
4glucose metabolic processGO:0060069.0PGAM1, PGAM2
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
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet