MCID: PHS009
MIFTS: 32

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 46 24 25
Phosphoglycerate Kinase 1 Deficiency 46 24 66
Pgk Deficiency 46 24 48
 
Pgk1 Deficiency 46 24
Deficiency of Phosphoglycerate Kinase 66

Classifications:



Summaries for Phosphoglycerate Kinase Deficiency

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Genetics Home Reference:24 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 hemolytic anemia, and has symptoms including ataxia and seizures. An important gene associated with Phosphoglycerate Kinase Deficiency is PGK1 (Phosphoglycerate Kinase 1), and among its related pathways are Carbon metabolism and Citrate cycle (TCA cycle). Affiliated tissues include skin, eye and heart, and related mouse phenotype muscle.

Wikipedia:69 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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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:


ataxia, seizures

Drugs & Therapeutics for Phosphoglycerate Kinase Deficiency

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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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Genetic tests related to Phosphoglycerate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Deficiency of Phosphoglycerate Kinase25

Anatomical Context for Phosphoglycerate Kinase Deficiency

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MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

34
Skin, Eye, Heart, Brain, Neutrophil, Testes

Animal Models for Phosphoglycerate Kinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Phosphoglycerate Kinase Deficiency:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5PFKM, PRKG1, PYGM

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
Phosphoglycerate kinase deficiency. (8035953)
1994
15
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). (8122886)
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
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. (6770677)
1980
28
Tissue levels of glycolytic enzymes in phosphoglycerate kinase deficiency. (6256101)
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
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
9.1PFKM, PGK1
2
Show member pathways
9.1PFKM, PGK1
3
Show member pathways
9.1PFKM, PYGM
4
Show member pathways
8.6PFKM, PGK1, PYGM
5
Show member pathways
8.6PFKM, PGK1, PYGM

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:00058298.0PFKM, PGK1, PRKG1, PYGM

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

idNameGO IDScoreTop Affiliating Genes
1canonical glycolysisGO:00616219.2PFKM, PGK1
2glycogen catabolic processGO:00059809.1PFKM, PYGM

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

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055248.5PFKM, PGK1, PRKG1

Sources for Phosphoglycerate Kinase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet