MCID: PHS009
MIFTS: 46

Phosphoglycerate Kinase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases categories

Summaries for Phosphoglycerate Kinase Deficiency

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Phosphoglycerate kinase (EC 2.7.2.3) (PGK) is an enzyme that catalyzes the reversible transfer of a... more...

MalaCards: Phosphoglycerate Kinase Deficiency, also known as phosphoglycerate kinase 1 deficiency, is related to hemolytic anemia and myopathy. An important gene associated with Phosphoglycerate Kinase Deficiency is PGK1 (phosphoglycerate kinase 1), and among its related pathways are Glycolysis and gluconeogenesis short map and Carbon metabolism. The compounds 3-phosphoglycerate and hpaii have been mentioned in the context of this disorder. Affiliated tissues include testes.

Description from OMIM:48 300653

Aliases & Classifications for Phosphoglycerate Kinase Deficiency

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Sources:
44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 46Novoseek, 21GeneTests, 48OMIM, 63UMLS, 50Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

50
glycogen storage disease due to phosphoglycerate kinase 1 deficiency:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

phosphoglycerate kinase deficiency 44 23 22
phosphoglycerate kinase 1 deficiency 44 21 23 22 48 63
pgk deficiency 44 22 46
pgk1 deficiency 44 22
glycogen storage disease due to phosphoglycerate kinase 1 deficiency 50
glycogenosis due to phosphoglycerate kinase 1 deficiency 50
gsd due to phosphoglycerate kinase 1 deficiency 50
deficiency of phosphoglycerate kinase 63


External Ids:

OMIM48 300653
ICD10 via Orphanet27 D55.2
UMLS via Orphanet64 C0684324

Related Diseases for Phosphoglycerate Kinase Deficiency

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Phosphoglycerate Kinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia30.9PRKG1, PGK1
2myopathy30.4PYGM, PFKM, PRKG1
3mental retardation30.3PRKG1, PGK1
4neurologic diseases10.2
5myoglobinuria, acute recurrent, autosomal recessive10.2
6myoglobinuria recurrent10.0PRKG1, PYGM
7aplastic anemia10.0PGK1, PRKG1
8glycogen storage disease vii10.0PFKM, PYGM
9glycogen storage disease10.0PFKM, PYGM
10type 2 diabetes mellitus10.0PFKM, PYGM

Graphical network of diseases related to Phosphoglycerate Kinase Deficiency:



Diseases related to phosphoglycerate kinase deficiency

Symptoms for Phosphoglycerate Kinase Deficiency

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

300653

Clinical features from OMIM:

300653

Drugs & Therapeutics for Phosphoglycerate Kinase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Phosphoglycerate Kinase Deficiency

Drug clinical trials:

Search ClinicalTrials for Phosphoglycerate Kinase Deficiency

Search NIH Clinical Center for Phosphoglycerate Kinase Deficiency

Search CenterWatch for Phosphoglycerate Kinase Deficiency

Genetic Tests for Phosphoglycerate Kinase Deficiency

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Phosphoglycerate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phosphoglycerate Kinase 1 Deficiency21 23 PGK1
2 Deficiency of Phosphoglycerate Kinase23

Anatomical Context for Phosphoglycerate Kinase Deficiency

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Sources:
34MalaCards
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MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

34
Testes

Animal Models for Phosphoglycerate Kinase Deficiency or affiliated genes

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Publications for Phosphoglycerate Kinase Deficiency

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53PubMed
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Articles related to Phosphoglycerate Kinase Deficiency:

(show all 33)
idTitleAuthorsYear
1
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization. (22705348)
2012
2
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. (22348148)
2012
3
Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation. (21269848)
2011
4
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. (20151463)
2010
5
Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. (17661373)
2007
6
Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing? (12543909)
2003
7
Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. (10720297)
2000
8
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. (10809925)
2000
9
A novel missense mutation (837T--&gt;C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. (9512313)
1998
10
Mitochondrial changes in muscle phosphoglycerate kinase deficiency. (8998855)
1996
11
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). (8122886)
1994
12
Phosphoglycerate kinase deficiency. (8035953)
1994
13
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) (7679780)
1993
14
1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency]. (1591023)
1992
15
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. (2715616)
1989
16
Phosphoglycerate kinase deficiency: biochemical studies on hair follicles. (3806012)
1986
17
Immunochemical studies on phosphoglycerate kinase deficiency. (3099814)
1986
18
Lack of effect of increased 2,3-diphosphoglycerate on flux through the oxidative pathway in phosphoglycerate kinase deficiency. (4042351)
1985
19
Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme. (6544372)
1984
20
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. (6830158)
1983
21
A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. (7082849)
1982
22
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. (7348995)
1981
23
A screening test for phosphoglycerate kinase deficiency. (6974537)
1981
24
Erythrocyte phosphoglycerate kinase deficiency: enzymatic and oxygen binding studies. (6938182)
1980
25
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. (6770677)
1980
26
Tissue levels of glycolytic enzymes in phosphoglycerate kinase deficiency. (6256101)
1980
27
Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity. (817852)
1976
28
Evidence of the decreased muscle enzyme activity in erythrocyte phosphoglycerate kinase deficiency. (4858637)
1974
29
1,3-Diphosphoglycerate in phosphoglycerate kinase deficiency. (4776485)
1973
30
Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. (4698932)
1973
31
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. (5764452)
1969
32
Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia. (4230542)
1968
33
Hereditary hemolytic anemia: association with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. (5721411)
1968

Variations for Phosphoglycerate Kinase Deficiency

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Phosphoglycerate Kinase Deficiency:

65
id Symbol AA change Variation ID SNP ID
1PGK1p.Leu88ProVAR_006076
2PGK1p.Gly158ValVAR_006077
3PGK1p.Asp164ValVAR_006078
4PGK1p.Arg206ProVAR_006080
5PGK1p.Glu252AlaVAR_006081
6PGK1p.Val266MetVAR_006082
7PGK1p.Asp285ValVAR_006084
8PGK1p.Asp315AsnVAR_006085
9PGK1p.Cys316ArgVAR_006086

Clinvar genetic disease variations for Phosphoglycerate Kinase Deficiency:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1PGK1NM_000291.3(PGK1): c.802G> A (p.Asp268Asn)single nucleotide variantPathogenicrs137852528GRCh37Chr X, 77378737: 77378737
2PGK1NM_000291.3(PGK1): c.617G> C (p.Arg206Pro)single nucleotide variantPathogenicrs137852529GRCh37Chr X, 77373643: 77373643
3PGK1NM_000291.3(PGK1): c.796_798delGTCinsATG (p.Val266Met)indelPathogenicrs431905501GRCh37Chr X, 77378731: 77378733
4PGK1NM_000291.3(PGK1): c.263T> C (p.Leu88Pro)single nucleotide variantPathogenicrs137852531GRCh37Chr X, 77369387: 77369387
5PGK1NM_000291.3(PGK1): c.473G> T (p.Gly158Val)single nucleotide variantPathogenicrs137852532GRCh37Chr X, 77372864: 77372864
6PGK1NM_000291.3(PGK1): c.946T> C (p.Cys316Arg)single nucleotide variantPathogenicrs137852533GRCh37Chr X, 77380380: 77380380
7PGK1NM_000291.3(PGK1): c.574_576delAAG (p.Lys192del)deletionPathogenicrs431905502GRCh37Chr X, 77373600: 77373602
8PGK1NM_000291.3(PGK1): c.758T> C (p.Ile253Thr)single nucleotide variantPathogenicrs137852534GRCh37Chr X, 77378693: 77378693
9PGK1NM_000291.3(PGK1): c.854A> T (p.Asp285Val)single nucleotide variantPathogenicrs137852535GRCh37Chr X, 77378789: 77378789
10PGK1NM_000291.3(PGK1): c.140T> A (p.Ile47Asn)single nucleotide variantPathogenicrs137852536GRCh37Chr X, 77369264: 77369264
11PGK1NM_000291.3(PGK1): c.959G> A (p.Ser320Asn)single nucleotide variantPathogenicrs137852537GRCh37Chr X, 77380393: 77380393
12PGK1NM_000291.3(PGK1): c.491A> T (p.Asp164Val)single nucleotide variantPathogenicrs137852538GRCh37Chr X, 77372882: 77372882
13PGK1NM_000291.3(PGK1): c.756+5G> Asingle nucleotide variantPathogenicrs431905503GRCh37Chr X, 77378451: 77378451
14PGK1NM_000291.3(PGK1): c.1132A> C (p.Thr378Pro)single nucleotide variantPathogenicrs137852539GRCh37Chr X, 77380841: 77380841

Expression for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Phosphoglycerate Kinase Deficiency

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

Pathways for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources:
51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB
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Pathways related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
glycolysis39
gluconeogenesis39
Glycolysis and Gluconeogenesis39
9.1PFKM, PGK1
2
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.1PFKM, PGK1
3
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
9.1PFKM, PGK1
4
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I39
galactose degradation I (Leloir pathway)39
Cori Cycle39
9.0PYGM, PFKM
5
Show member pathways
8.5PFKM, PGK1, PYGM
6
Show member pathways
malate-aspartate shuttle39
glycogen biosynthesis II (from UDP-D-Glucose)39
8.5PFKM, PGK1, PYGM

Compounds for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
13-phosphoglycerate469.7PRKG1, PGK1
2hpaii469.7PRKG1, PGK1
3thymine46 2510.6PRKG1, PGK1
4hypoxanthine46 25 1211.6PGK1, PRKG1
5glucose 6-phosphate46 2510.4PRKG1, PYGM
6glyceraldehyde 3-phosphate469.4PRKG1, PGK1
7guanine46 25 1211.3PRKG1, PGK1
8phosphocreatine46 2510.3PFKM, PYGM
9polyacrylamide469.1PGK1, PRKG1
10carnitine468.8PRKG1, PFKM, PYGM
11tyrosine468.8PRKG1, PGK1, PYGM
12adp46 30 2510.8PRKG1, PFKM, PGK1
13glycogen46 259.7PYGM, PFKM, PRKG1
14Adenosine triphosphate25 129.7PGK1, PFKM, PRKG1
15pyruvate468.3PRKG1, PFKM, PGK1, PYGM
16lactate468.3PYGM, PGK1, PFKM, PRKG1
17atp46 309.3PYGM, PGK1, PFKM, PRKG1
18glucose468.3PYGM, PGK1, PFKM, PRKG1

GO Terms for genes affiliated with Phosphoglycerate Kinase Deficiency

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17Gene Ontology
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Cellular components related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.0PRKG1, PFKM, PGK1, PYGM

Biological processes related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycolytic processGO:0060968.8PFKM, PGK1
2glucose metabolic processGO:0060068.5PFKM, PGK1, PYGM
3small molecule metabolic processGO:0442818.5PFKM, PGK1, PYGM
4carbohydrate metabolic processGO:0059758.4PYGM, PGK1, PFKM

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

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055248.6PRKG1, PFKM, PGK1

Products for genes affiliated with Phosphoglycerate Kinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phosphoglycerate Kinase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet