Phosphoglycerate Mutase Deficiency malady

Genetics Home Reference: 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.¹⁷

MalaCards: Phosphoglycerate Mutase Deficiency, also known as glycogen storage disease x, is related to cramps and nemaline myopathy. An important gene associated with Phosphoglycerate Mutase Deficiency is PGAM2 (phosphoglycerate mutase 2 (muscle)), and among its related pathways are Glycolysis and Glycolysis / Gluconeogenesis. 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: Phosphoglycerate mutase (PGM) is an enzyme that catalyzes step 8 of glycolysis. It catalyzes the...⁴⁴ more...

OMIM: 261670

phosphoglycerate mutase deficiency 30 16 17 glycogen storage disease x 30 16 17 33 pgam deficiency 30 16 17 gsd10 30 16 17 myopathy due to phosphoglycerate mutase deficiency 30 17 pgamm deficiency 30 17 gsdx 30 17

muscle phosphoglycerate mutase deficiency 30 deficiency mutase phosphoglycerate 17 glycogen storage disease type x 43 malnutrition 43 myopathy 43 gsd x 17

Diseases related to phosphoglycerate mutase deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 620)

id	Related Disease	Score	Top Affiliating Genes
1	cramps	29.4	PGAM1, PGAM2
2	nemaline myopathy	10.2
3	inclusion body myopathy	9.8
4	centronuclear myopathy	9.6
5	myofibrillar myopathy	9.1
6	inclusion body myopathy 2	9.1
7	protein-energy malnutrition	8.9
8	myopathy due to phosphoglycerate mutase deficiency	8.9
9	bethlem myopathy	8.9
10	miyoshi myopathy	8.7
11	cardiomyopathy	8.7
12	muscular dystrophy	8.4
13	myopathy	8.4
14	laing distal myopathy	8.2
15	vacuolar myopathy	8.2
16	dementia	7.9
17	glycogen storage disease vi	7.9
18	glycogen storage disease ib	7.9
19	glycogen storage disease type 0	7.9
20	inclusion body myopathy with early-onset paget disease and frontotemporal dementia	7.9
21	myopathy congenital	7.9
22	distal myopathy with vocal cord weakness	7.8
23	frontotemporal dementia	7.8
24	glycogen storage disease i	7.7
25	glycogen storage disease type ia	7.7
26	hereditary myopathy with early respiratory failure	7.6
27	myositis	7.6
28	x-linked centronuclear myopathy	7.6
29	glycogen storage disease v	7.5
30	glycogen storage disease iv	7.5
31	glycogen storage disease ii	7.5
32	peritonitis	7.5
33	neutral lipid storage disease with myopathy	7.5
34	paget's disease of bone	7.5
35	inclusion body myositis	7.5
36	limb-girdle muscular dystrophy	7.5
37	myopathy with deficiency of iron-sulfur cluster assembly enzyme	7.5
38	actin-accumulation myopathy	7.4
39	multiminicore disease	7.4
40	myopathy with deficiency of iscu	7.4
41	rod myopathy	7.4
42	salih myopathy	7.4
43	congenital fiber-type disproportion	7.3
44	central core myopathy	7.3
45	inclusion body myopathy with paget disease of bone and/or frontotemporal dementia	7.3
46	lactic acidosis	7.3
47	mitochondrial encephalomyopathy	7.3
48	mitochondrial myopathy and sideroblastic anemia	7.3
49	x-linked dominant scapuloperoneal myopathy	7.3
50	glycogen storage disease iii	7.3

Clinical features from OMIM: 261670

Approved drugs:

Drug clinical trials:

Genetic tests related to phosphoglycerate mutase deficiency:

id	Genetic test	Affiliating Genes
1	Phosphoglycerate Mutase Deficiency clinical/research	PGAM2

MalaCards organs/tissues related to phosphoglycerate mutase deficiency:

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Articles related to phosphoglycerate mutase deficiency:

id	Title	Authors	Year	Affiliating Genes
1	Muscle phosphoglycerate mutase deficiency revisited. (19273759)	Naini A.... DiMauro S.	2009	PGAM2
2	Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. (16881065)	Oh S.J.... DiMauro S.	2006	PGAM1
3	Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. (16157752)	Vissing J.... Haller R.G.	2005	PGAM2
4	Muscle phosphoglycerate mutase deficiency (11596425)	Tsujino S.	2001	PGAM2
5	Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene. (10443898)	Vissing J.... Clausen T.	1999	PGAM2
6	Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy. (8082854)	Poulton K.R.... Riddoch D.	1994	PGAM2
7	Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. (6262916)	DiMauro S.... Friedman R.	1981	PGAM2

Genes related to phosphoglycerate mutase deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PGAM2	phosphoglycerate mutase 2 (muscle)	11.0	Publications
2	PGAM1	phosphoglycerate mutase 1 (brain)	11.0	Publications

Pathways related to phosphoglycerate mutase deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Glycolysis38	9.1	PGAM1, PGAM2
2	Glycolysis / Gluconeogenesis20	9.1	PGAM1, PGAM2
3	Glycolysis and gluconeogenesis (short map)10	9.0	PGAM1, PGAM2
4	Glycolysis and gluconeogenesis (short map)41	8.8	PGAM1, PGAM2

Compounds related to phosphoglycerate mutase deficiency according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	3-Phosphoglyceric Acid9 18 9	11.1	PGAM1, PGAM2
2	2-Phospho-D-Glyceric Acid9 18 9	10.8	PGAM1, PGAM2

Biological processes related to phosphoglycerate mutase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	gluconeogenesis	GO:006094	9.1	PGAM1, PGAM2
2	carbohydrate metabolic process	GO:005975	9.1	PGAM1, PGAM2
3	glycolysis	GO:006096	9.0	PGAM1, PGAM2
4	glucose metabolic process	GO:006006	8.8	PGAM1, PGAM2

Molecular functions related to phosphoglycerate mutase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphoglycerate mutase activity	GO:004619	9.1	PGAM1, PGAM2
2	bisphosphoglycerate mutase activity	GO:004082	9.0	PGAM1, PGAM2
3	bisphosphoglycerate 2-phosphatase activity	GO:004083	8.8	PGAM1, PGAM2