MCID: PHS009
MIFTS: 33

Phosphoglycerate Kinase Deficiency malady

Category: Rare diseases

Aliases & Classifications for Phosphoglycerate Kinase Deficiency

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Aliases & Descriptions for Phosphoglycerate Kinase Deficiency:

Name: Phosphoglycerate Kinase Deficiency 45 23 24
Phosphoglycerate Kinase 1 Deficiency 45 23 65
Pgk Deficiency 45 23 47
 
Pgk1 Deficiency 45 23
Deficiency of Phosphoglycerate Kinase 65

Classifications:



External Ids:

UMLS65 C0684324, C1970848

Summaries for Phosphoglycerate Kinase Deficiency

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Genetics Home Reference:23 Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.

MalaCards based summary: Phosphoglycerate Kinase Deficiency, also known as phosphoglycerate kinase 1 deficiency, is related to phosphoglycerate kinase 1 deficiency and glycogen storage disease due to phosphoglycerate kinase 1 deficiency, and has symptoms including seizuresand ataxia. An important gene associated with Phosphoglycerate Kinase Deficiency is PRKG1 (Protein Kinase, CGMP-Dependent, Type I), and among its related pathways are Citrate cycle (TCA cycle) and Fructose and mannose metabolism. Affiliated tissues include brain, skin and heart.

Wikipedia:68 Phosphoglycerate kinase (EC 2.7.2.3) (PGK) is an enzyme that catalyzes the reversible transfer of a... more...

Related Diseases for Phosphoglycerate Kinase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1phosphoglycerate kinase 1 deficiency12.6
2glycogen storage disease due to phosphoglycerate kinase 1 deficiency12.3
3hemolytic anemia10.3
4myoglobinuria10.2
5myoglobinuria, acute recurrent, autosomal recessive10.2
6myopathy10.1
7neurologic diseases9.9
8hemophagocytic lymphohistiocytosis9.8PGK1, TPI1
9phosphoglycerate mutase deficiency8.2PFKM, PGK1, PRKG1, TPI1

Graphical network of diseases related to Phosphoglycerate Kinase Deficiency:



Diseases related to phosphoglycerate kinase deficiency

Symptoms for Phosphoglycerate Kinase Deficiency

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UMLS symptoms related to Phosphoglycerate Kinase Deficiency:


seizures, ataxia

Drugs & Therapeutics for Phosphoglycerate Kinase Deficiency

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Drugs for Phosphoglycerate Kinase 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
2Unrelated Donor BMT for Treatment of Patients With PGK DeficiencyActive, not recruitingNCT00592540

Search NIH Clinical Center for Phosphoglycerate Kinase Deficiency

Genetic Tests for Phosphoglycerate Kinase Deficiency

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Anatomical Context for Phosphoglycerate Kinase Deficiency

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MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

33
Brain, Skin, Heart, Eye, Testes, T cells, Endothelial

Animal Models for Phosphoglycerate Kinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Phosphoglycerate Kinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Phosphoglycerate Kinase Deficiency

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Articles related to Phosphoglycerate Kinase Deficiency:

(show all 37)
idTitleAuthorsYear
1
Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency. (26883264)
2016
2
A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report. (26396085)
2015
3
Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy. (24934115)
2014
4
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization. (22705348)
2012
5
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. (22348148)
2012
6
Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation. (21269848)
2011
7
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. (20151463)
2010
8
Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. (17661373)
2007
9
Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing? (12543909)
2003
10
Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. (10720297)
2000
11
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. (10809925)
2000
12
A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. (9512313)
1998
13
Mitochondrial changes in muscle phosphoglycerate kinase deficiency. (8998855)
1996
14
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). (8122886)
1994
15
Phosphoglycerate kinase deficiency. (8035953)
1994
16
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) (7679780)
1993
17
1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency]. (1591023)
1992
18
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. (2715616)
1989
19
Phosphoglycerate kinase deficiency: biochemical studies on hair follicles. (3806012)
1986
20
Immunochemical studies on phosphoglycerate kinase deficiency. (3099814)
1986
21
Lack of effect of increased 2,3-diphosphoglycerate on flux through the oxidative pathway in phosphoglycerate kinase deficiency. (4042351)
1985
22
Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme. (6544372)
1984
23
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. (6830158)
1983
24
A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. (7082849)
1982
25
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. (7348995)
1981
26
A screening test for phosphoglycerate kinase deficiency. (6974537)
1981
27
Erythrocyte phosphoglycerate kinase deficiency: enzymatic and oxygen binding studies. (6938182)
1980
28
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. (6770677)
1980
29
Tissue levels of glycolytic enzymes in phosphoglycerate kinase deficiency. (6256101)
1980
30
Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity. (817852)
1976
31
Neutrophil function in congenital phosphoglycerate kinase deficiency. (4215037)
1974
32
Evidence of the decreased muscle enzyme activity in erythrocyte phosphoglycerate kinase deficiency. (4858637)
1974
33
1,3-Diphosphoglycerate in phosphoglycerate kinase deficiency. (4776485)
1973
34
Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. (4698932)
1973
35
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. (5764452)
1969
36
Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia. (4230542)
1968
37
Hereditary hemolytic anemia: association with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. (5721411)
1968

Variations for Phosphoglycerate Kinase Deficiency

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Expression for genes affiliated with Phosphoglycerate Kinase Deficiency

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

Pathways for genes affiliated with Phosphoglycerate Kinase Deficiency

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Pathways related to Phosphoglycerate Kinase Deficiency according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3PFKM, PGK1
2
Show member pathways
9.1PFKM, TPI1
3
Show member pathways
8.5PFKM, PGK1, TPI1
4
Show member pathways
8.5PFKM, PGK1, TPI1
5
Show member pathways
8.5PFKM, PGK1, TPI1

GO Terms for genes affiliated with Phosphoglycerate Kinase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1glucose metabolic processGO:00060069.0PGK1, TPI1
2carbohydrate metabolic processGO:00059758.8PFKM, PGK1, TPI1
3small molecule metabolic processGO:00442818.2PFKM, PGK1, TPI1

Sources for Phosphoglycerate Kinase 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