MCID: PHS009
MIFTS: 34

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 48 25 27
Phosphoglycerate Kinase 1 Deficiency 48 25 68
Pgk Deficiency 48 25 50
 
Pgk1 Deficiency 48 25
Deficiency of Phosphoglycerate Kinase 68

Classifications:



Summaries for Phosphoglycerate Kinase Deficiency

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Genetics Home Reference:25 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 myoglobinuria, acute recurrent, autosomal recessive, and has symptoms including ataxia and seizures. An important gene associated with Phosphoglycerate Kinase Deficiency is PRKG1 (Protein Kinase, CGMP-Dependent, Type I), and among its related pathways are Cori Cycle and Citrate cycle (TCA cycle). Affiliated tissues include skin, eye and heart, and related mouse phenotypes are Increased simian virus 40 (SV40) infection and Decreased viability after gemcitabine stimulation.

Wikipedia:71 Phosphoglycerate kinase (EC 2.7.2.3) (PGK 1) is an enzyme that catalyzes the reversible transfer of a... more...

Related Diseases for Phosphoglycerate Kinase Deficiency

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Graphical network of diseases related to Phosphoglycerate Kinase Deficiency:



Diseases related to phosphoglycerate kinase deficiency

Symptoms & Phenotypes for Phosphoglycerate Kinase Deficiency

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UMLS symptoms related to Phosphoglycerate Kinase Deficiency:


ataxia, seizures

GenomeRNAi Phenotypes related to Phosphoglycerate Kinase Deficiency according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00356-A-210.0PGK1, PRKG1
2GR00107-A-210.0PFKM, PRKG1
3GR00353-A10.0PFKM, PGK1
4GR00356-A-39.5PGK1, PRKG1

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 Solutions8192

Interventional clinical trials:

idNameStatusNCT IDPhase
1Unrelated Donor BMT for Treatment of Patients With PGK DeficiencyCompletedNCT00592540
2Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

Search NIH Clinical Center for Phosphoglycerate Kinase Deficiency

Genetic Tests for Phosphoglycerate Kinase Deficiency

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Genetic tests related to Phosphoglycerate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Deficiency of Phosphoglycerate Kinase27

Anatomical Context for Phosphoglycerate Kinase Deficiency

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MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

36
Skin, Eye, Heart, Brain, Neutrophil, Testes

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 in two brothers with McArdle-like clinical symptoms. (10809925)
2000
11
Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. (10720297)
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
A screening test for phosphoglycerate kinase deficiency. (6974537)
1981
26
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. (7348995)
1981
27
Tissue levels of glycolytic enzymes in phosphoglycerate kinase deficiency. (6256101)
1980
28
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. (6770677)
1980
29
Erythrocyte phosphoglycerate kinase deficiency: enzymatic and oxygen binding studies. (6938182)
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
Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. (4698932)
1973
34
1,3-Diphosphoglycerate in phosphoglycerate kinase deficiency. (4776485)
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
19.4PGK1, TPI1
2
Show member pathways
9.3PFKM, PGK1
3
Show member pathways
9.3PFKM, TPI1
4
Show member pathways
9.0PFKM, PYGM
5
Show member pathways
8.8PFKM, PGK1, TPI1
6
Show member pathways
8.0PFKM, PGK1, PYGM, TPI1
7
Show member pathways
8.0PFKM, PGK1, PYGM, TPI1

GO Terms for genes affiliated with Phosphoglycerate Kinase Deficiency

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Cellular components related to Phosphoglycerate Kinase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.5PFKM, PGK1, PRKG1, PYGM, TPI1

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

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:000609410.1PGK1, TPI1
2glycogen catabolic processGO:00059809.7PFKM, PYGM
3canonical glycolysisGO:00616219.5PFKM, PGK1, TPI1
4glycolytic processGO:00060969.5PFKM, PGK1, TPI1
5phosphorylationGO:00163108.9PFKM, PGK1, PRKG1
6metabolic processGO:00081528.7PFKM, PRKG1, PYGM, TPI1

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

idNameGO IDScoreTop Affiliating Genes
1kinase activityGO:00163019.6PFKM, PGK1, PRKG1
2catalytic activityGO:00038249.3PFKM, PRKG1, PYGM
3transferase activityGO:00167408.1PFKM, PGK1, PRKG1, PYGM

Sources for Phosphoglycerate Kinase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet