Aliases & Classifications for Phosphoglycerate Mutase Deficiency

MalaCards integrated aliases for Phosphoglycerate Mutase Deficiency:

Name: Phosphoglycerate Mutase Deficiency 49 24
Myopathy Due to Phosphoglycerate Mutase Deficiency 49 24
Glycogen Storage Disease X 49 24
Pgamm Deficiency 49 24
Pgam Deficiency 49 24
Gsd10 49 24
Gsdx 49 24
Muscle Phosphoglycerate Mutase Deficiency 49
Deficiency Mutase Phosphoglycerate 24
Glycogen Storage Disease Type X 69
Gsd X 24

Classifications:



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UMLS 69 C0268149

Summaries for Phosphoglycerate Mutase Deficiency

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97234Disease definitionMuscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).Visit the Orphanet disease page for more resources. Last updated: 12/5/2007

MalaCards based summary : Phosphoglycerate Mutase Deficiency, also known as myopathy due to phosphoglycerate mutase deficiency, is related to glycogen storage disease x and myopathy, and has symptoms including myalgia An important gene associated with Phosphoglycerate Mutase Deficiency is PGAM2 (Phosphoglycerate Mutase 2), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glucose metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, kidney and testes.

Genetics Home Reference : 24 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.

Wikipedia : 72 Phosphoglycerate mutase (PGM) is any enzyme that catalyzes step 8 of glycolysis. They catalyze the... more...

Related Diseases for Phosphoglycerate Mutase Deficiency

Diseases related to Phosphoglycerate Mutase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glycogen storage disease x 12.0
2 myopathy 10.2
3 myoglobinuria, acute recurrent, autosomal recessive 10.0
4 glycogen storage disease 10.0
5 myoglobinuria 10.0

Graphical network of the top 20 diseases related to Phosphoglycerate Mutase Deficiency:



Diseases related to Phosphoglycerate Mutase Deficiency

Symptoms & Phenotypes for Phosphoglycerate Mutase Deficiency

UMLS symptoms related to Phosphoglycerate Mutase Deficiency:


myalgia

Drugs & Therapeutics for Phosphoglycerate Mutase Deficiency

Drugs for Phosphoglycerate Mutase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

Search NIH Clinical Center for Phosphoglycerate Mutase Deficiency

Genetic Tests for Phosphoglycerate Mutase Deficiency

Anatomical Context for Phosphoglycerate Mutase Deficiency

MalaCards organs/tissues related to Phosphoglycerate Mutase Deficiency:

38
Skeletal Muscle, Kidney, Testes

Publications for Phosphoglycerate Mutase Deficiency

Articles related to Phosphoglycerate Mutase Deficiency:

(show all 15)
# Title Authors Year
1
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M. ( 27612597 )
2016
2
Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama. ( 23169535 )
2013
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
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. ( 19783439 )
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
[Muscle phosphoglycerate mutase deficiency]. ( 11596425 )
2001
9
Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene. ( 10443898 )
1999
10
Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy. ( 8082854 )
1994
11
Phosphorus magnetic resonance spectroscopy of partially blocked muscle glycolysis. An in vivo study of phosphoglycerate mutase deficiency. ( 3034220 )
1987
12
Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. ( 2987758 )
1985
13
Muscle phosphoglycerate mutase deficiency. ( 6283419 )
1982
14
Effect of phosphoglycerate mutase deficiency on heterotrophic and autotrophic carbon metabolism of Alcaligenes eutrophus. ( 6282814 )
1982
15
Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. ( 6262916 )
1981

Variations for Phosphoglycerate Mutase Deficiency

ClinVar genetic disease variations for Phosphoglycerate Mutase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PGAM2 NM_000290.3(PGAM2): c.233G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs10250779 GRCh37 Chromosome 7, 44104896: 44104896
2 PGAM2 NM_000290.3(PGAM2): c.266A> C (p.Glu89Ala) single nucleotide variant Pathogenic rs104894030 GRCh37 Chromosome 7, 44104863: 44104863

Expression for Phosphoglycerate Mutase Deficiency

Search GEO for disease gene expression data for Phosphoglycerate Mutase Deficiency.

Pathways for Phosphoglycerate Mutase Deficiency

GO Terms for Phosphoglycerate Mutase Deficiency

Biological processes related to Phosphoglycerate Mutase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.32 PGAM1 PGAM2
2 gluconeogenesis GO:0006094 9.26 PGAM1 PGAM2
3 glycolytic process GO:0006096 9.16 PGAM1 PGAM2
4 canonical glycolysis GO:0061621 8.96 PGAM1 PGAM2
5 regulation of pentose-phosphate shunt GO:0043456 8.62 PGAM1 PGAM2

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

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 9.32 PGAM1 PGAM2
2 intramolecular transferase activity, phosphotransferases GO:0016868 9.26 PGAM1 PGAM2
3 phosphoglycerate mutase activity GO:0004619 9.16 PGAM1 PGAM2
4 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity GO:0046538 8.96 PGAM1 PGAM2
5 bisphosphoglycerate mutase activity GO:0004082 8.62 PGAM1 PGAM2

Sources for Phosphoglycerate Mutase Deficiency

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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