MCID: PHS010
MIFTS: 25

Phosphoglycerate Mutase Deficiency malady

Category: Rare diseases

Aliases & Classifications for Phosphoglycerate Mutase Deficiency

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Aliases & Descriptions for Phosphoglycerate Mutase Deficiency:

Name: Phosphoglycerate Mutase Deficiency 45 23
Myopathy Due to Phosphoglycerate Mutase Deficiency 45 23
Glycogen Storage Disease X 45 23
Pgamm Deficiency 45 23
Pgam Deficiency 45 23
Gsd10 45 23
 
Gsdx 45 23
Muscle Phosphoglycerate Mutase Deficiency 45
Deficiency Mutase Phosphoglycerate 23
Glycogen Storage Disease Type X 65
Gsd X 23

Classifications:



External Ids:

UMLS65 C0268149

Summaries for Phosphoglycerate Mutase Deficiency

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Genetics Home Reference:23 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 due to phosphoglycerate mutase deficiency and glycogen storage disease x. An important gene associated with Phosphoglycerate Mutase Deficiency is PGAM2 (Phosphoglycerate Mutase 2), and among its related pathways are Glucose metabolism and Glycosaminoglycan metabolism. Affiliated tissues include kidney, skeletal muscle and lung.

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:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease due to phosphoglycerate mutase deficiency12.7
2glycogen storage disease x11.8
3pheochromocytoma10.3
4gastrointestinal stromal tumor10.3
5coronary artery disease10.3
6artery disease10.3
7pre-eclampsia10.3
8lactose intolerance10.3
9transsexualism10.3
10cortical blindness10.3
11eclampsia10.3
12biliary atresia10.3
13middle ear carcinoma10.3
14blepharospasm10.3
15laugier-hunziker syndrome10.3
16phosphomannoisomerase deficiency9.7PGAM1, PGAM2

Graphical network of diseases related to Phosphoglycerate Mutase Deficiency:



Diseases related to phosphoglycerate mutase deficiency

Symptoms for Phosphoglycerate Mutase Deficiency

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Drugs & Therapeutics for Phosphoglycerate Mutase Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical Solutions7004

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

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:

33
Kidney, Skeletal muscle, Lung, Breast, Myeloid, Neutrophil, B cells

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
Proteus syndrome: report of a case with developmental glaucoma. (24882963)
2014
2
A comprehensive surface proteome analysis of myeloid leukemia cell lines for therapeutic antibody development. (24487095)
2014
3
Assessment of external lymphedema in patients with head and neck cancer: a comparison of four scales. (23989023)
2013
4
Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea. (21179280)
2010
5
Oncogene associated cDNA microarray analysis shows PRAME gene expression is a marker for response to anthracycline containing chemotherapy in patients with diffuse large B-cell lymphoma. (19474511)
2009
6
Ascorbate (vitamin C) induces cell death through the apoptosis-inducing factor in human breast cancer cells. (17786340)
2007
7
Is this happiness I see? Biases in the identification of emotional facial expressions in depression and social phobia. (17100528)
2006
8
Genistein-induced changes in gene expression in Panc 1 cells at physiological concentrations of genistein. (15257099)
2004
9
Occurrence of farmer's lung disease is relevant to meteorological conditions: a 20-year follow-up field survey analysis. (12173376)
2002
10
How to define coronary stenosis severity? (11387604)
2001
11
Alterations in the activity of several glycohydrolases in red blood cell membrane from type 2 diabetes mellitus patients. (10421218)
1999
12
Tyrosine phosphorylation and recruitment of ZAP-70 to the CD3-TCR complex are defective after CD2 stimulation. (8906806)
1996
13
Involvement of calcium in modulation of neutrophil function by phorbol esters that activate protein kinase C isotypes and related enzymes. (8435086)
1993
14
Biological and clinical effects of the oral immunomodulator 3,6-bis(2-piperidinoethoxy)acridine trihydrochloride in patients with malignancy. (1690788)
1990

Variations for Phosphoglycerate Mutase Deficiency

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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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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:00060949.7PGAM1, PGAM2
2small molecule metabolic processGO:00442819.3PGAM1, PGAM2
3glucose metabolic processGO:00060069.2PGAM1, PGAM2
4metabolic processGO:00081529.1PGAM1, PGAM2

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

idNameGO IDScoreTop Affiliating Genes
1bisphosphoglycerate mutase activityGO:00040829.1PGAM1, PGAM2
2phosphoglycerate mutase activityGO:00046198.8PGAM1, PGAM2

Sources for Phosphoglycerate Mutase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet