GSDX
MCID: PHS010
MIFTS: 35

Phosphoglycerate Mutase Deficiency (GSDX) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Phosphoglycerate Mutase Deficiency

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 myopathy and 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:63 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, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

phosphoglycerate mutase deficiency 42 21
glycogen storage disease x 42 20 22 21 46
myopathy due to phosphoglycerate mutase deficiency 42 21 48
muscle phosphoglycerate mutase deficiency 42 48
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
deficiency mutase phosphoglycerate 21
glycogen storage disease type x 60
pgamm deficiency 21
pgam deficiency 21
gsd x 21


External Ids:

SNOMED-CT via Orphanet57 37666005, 61772003
OMIM46 261670
ICD10 via Orphanet26 E74.0

Related Diseases for Phosphoglycerate Mutase Deficiency

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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
1myopathy10.4
2glycogen storage disease10.0PGAM2, PGAM1

Clinical Features for Phosphoglycerate Mutase Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

261670

Clinical synopsis from OMIM:

261670

Drugs & Therapeutics for Phosphoglycerate Mutase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Phosphoglycerate Mutase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Phosphoglycerate Mutase Deficiency

Search CenterWatch for Phosphoglycerate Mutase Deficiency

Genetic Tests for Phosphoglycerate Mutase Deficiency

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Phosphoglycerate Mutase Deficiency:

32
Skeletal muscle, Kidney

Animal Models for Phosphoglycerate Mutase Deficiency or affiliated genes

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Publications for Phosphoglycerate Mutase Deficiency

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Genetic Variations for Phosphoglycerate Mutase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Phosphoglycerate Mutase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1PGAM2p.Glu89AlaVAR_006088
2PGAM2p.Arg90TrpVAR_006089
3PGAM2p.Gly97AspVAR_013103

Expression for genes affiliated with Phosphoglycerate Mutase Deficiency

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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

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Sources:
53Reactome, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database
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Compounds for genes affiliated with Phosphoglycerate Mutase Deficiency

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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

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet