GSDX
MCID: PHS010
MIFTS: 31

Phosphoglycerate Mutase Deficiency (GSDX) malady

Neuronal, Metabolic categories

Summaries for Phosphoglycerate Mutase Deficiency

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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: Phosphoglycerate Mutase Deficiency, also known as glycogen storage disease x, is related to glycogen storage disease. An important gene associated with Phosphoglycerate Mutase Deficiency is PGAM2 (phosphoglycerate mutase 2 (muscle)), and among its related pathways are MPS IIIC - Sanfilippo syndrome C and Metabolism. The compounds 3-Phosphoglyceric Acid and 2-Phospho-D-Glyceric Acid have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and kidney.

Wikipedia:64 Phosphoglycerate mutase (PGM) is an enzyme that catalyzes step 8 of glycolysis. It catalyzes the... more...

Description from OMIM:47 261670

Aliases & Classifications for Phosphoglycerate Mutase Deficiency

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49

Aliases & Descriptions:

phosphoglycerate mutase deficiency 43 21
glycogen storage disease x 43 20 22 21 47
myopathy due to phosphoglycerate mutase deficiency 43 21 49
muscle phosphoglycerate mutase deficiency 43 49
gsd10 43 21
gsdx 43 21
glycogen storage disease due to phosphoglycerate mutase deficiency 49
glycogenosis due to phosphoglycerate mutase deficiency 49
gsd due to phosphoglycerate mutase deficiency 49
deficiency mutase phosphoglycerate 21
glycogen storage disease type x 61
pgamm deficiency 21
pgam deficiency 21
gsd x 21


External Ids:

OMIM47 261670
ICD10 via Orphanet26 E74.0

Related Diseases for Phosphoglycerate Mutase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Phosphoglycerate Mutase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease10.0PGAM2, PGAM1

Clinical Features for Phosphoglycerate Mutase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

261670

Clinical synopsis from OMIM:

261670

Drugs & Therapeutics for Phosphoglycerate Mutase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Phosphoglycerate Mutase Deficiency

Drug clinical trials:

Search ClinicalTrials for Phosphoglycerate Mutase Deficiency

Search NIH Clinical Center for Phosphoglycerate Mutase Deficiency

Search CenterWatch for Phosphoglycerate Mutase Deficiency

Genetic Tests for Phosphoglycerate Mutase Deficiency

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Phosphoglycerate Mutase Deficiency:

33
Skeletal muscle, Kidney

Animal Models for Phosphoglycerate Mutase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Phosphoglycerate Mutase Deficiency

Sources:
51PubMed
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Articles related to Phosphoglycerate Mutase Deficiency:

(show all 21)
idTitleAuthorsYear
1
Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama. (23169535)
2013
2
Effect of phosphoglycerate mutase and fructose 1,6-bisphosphatase deficiency on symbiotic Burkholderia phymatum. (22282515)
2012
3
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. (19783439)
2009
4
Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset. (19322572)
2009
5
Muscle phosphoglycerate mutase deficiency revisited. (19273759)
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
Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies. (15710582)
2005
9
Muscle phosphoglycerate mutase deficiency]. (11596425)
2001
10
Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene. (10443898)
1999
11
Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred. (8761269)
1996
12
Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy: the first Japanese patient. (8933190)
1996
13
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. (7603528)
1995
14
Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy. (8006681)
1994
15
Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy. (8082854)
1994
16
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (8447317)
1993
17
Phosphorus magnetic resonance spectroscopy of partially blocked muscle glycolysis. An in vivo study of phosphoglycerate mutase deficiency. (3034220)
1987
18
Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. (2987758)
1985
19
Effect of phosphoglycerate mutase deficiency on heterotrophic and autotrophic carbon metabolism of Alcaligenes eutrophus. (6282814)
1982
20
Muscle phosphoglycerate mutase deficiency. (6283419)
1982
21
Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. (6262916)
1981

Genetic Variations for Phosphoglycerate Mutase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Phosphoglycerate Mutase Deficiency:

63
id Symbol AA change Variation SNP ID
1PGAM2p.Glu89AlaVAR_006088
2PGAM2p.Arg90TrpVAR_006089
3PGAM2p.Gly97AspVAR_013103

Expression for genes affiliated with Phosphoglycerate Mutase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
54Reactome, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database
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Compounds for genes affiliated with Phosphoglycerate Mutase Deficiency

Sources:
11DrugBank, 24HMDB
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Compounds related to Phosphoglycerate Mutase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
13-Phosphoglyceric Acid11 2410.1PGAM2, PGAM1
22-Phospho-D-Glyceric Acid11 249.8PGAM2, PGAM1

GO Terms for genes affiliated with Phosphoglycerate Mutase Deficiency

Sources:
16Gene Ontology
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Biological processes related to Phosphoglycerate Mutase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:0060949.1PGAM2, PGAM1
2carbohydrate metabolic processGO:0059759.1PGAM2, PGAM1
3glycolysisGO:0060969.0PGAM2, PGAM1
4glucose metabolic processGO:0060068.8PGAM2, PGAM1

Molecular functions related to Phosphoglycerate Mutase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphoglycerate mutase activityGO:0046199.1PGAM2, PGAM1
2bisphosphoglycerate mutase activityGO:0040829.0PGAM2, PGAM1
3bisphosphoglycerate 2-phosphatase activityGO:0040838.8PGAM2, PGAM1

Products for genes affiliated with Phosphoglycerate Mutase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phosphoglycerate Mutase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet