MCID: PHS009
MIFTS: 41

Phosphoglycerate Kinase Deficiency malady

Neuronal, Metabolic, Blood categories

Summaries for Phosphoglycerate Kinase Deficiency

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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: Phosphoglycerate Kinase Deficiency, also known as phosphoglycerate kinase 1 deficiency, is related to deficiency anemia and myoglobinuria recurrent. An important gene associated with Phosphoglycerate Kinase Deficiency is PGK1 (phosphoglycerate kinase 1), and among its related pathways are Carbon metabolism and Glycolysis and gluconeogenesis (short map). The compounds 3-phosphoglycerate and hpaii have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin.

Wikipedia:64 Phosphoglycerate kinase (EC 2.7.2.3) (PGK) is an enzyme that catalyzes the reversible transfer of a... more...

Description from OMIM:47 300653

Aliases & Classifications for Phosphoglycerate Kinase Deficiency

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic, Blood


Characteristics (Orphanet epidemiological data):

49
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 43 22 21
phosphoglycerate kinase 1 deficiency 43 20 22 21 47 61
pgk deficiency 43 21 45
pgk1 deficiency 43 21
glycogen storage disease due to phosphoglycerate kinase 1 deficiency 49
glycogenosis due to phosphoglycerate kinase 1 deficiency 49
gsd due to phosphoglycerate kinase 1 deficiency 49
deficiency of phosphoglycerate kinase 61


External Ids:

OMIM47 300653
ICD10 via Orphanet26 D55.2
SNOMED-CT via Orphanet58 124335006
UMLS via Orphanet62 C0684324

Related Diseases for Phosphoglycerate Kinase Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia30.9PGK1
2myoglobinuria recurrent30.6PYGM, PRKG1
3mental retardation30.3PRKG1, PGK1
4protein s deficiency10.3
5myoglobinuria, acute recurrent, autosomal recessive10.2
6decr deficiency10.2
7aplastic anemia10.0PGK1, PRKG1
8hemolytic anemia10.0PRKG1, PGK1
9glycogen storage disease10.0PYGM, PFKM
10diabetes mellitus10.0PYGM, PFKM
11myopathy10.0PFKM, PRKG1, PYGM

Graphical network of diseases related to Phosphoglycerate Kinase Deficiency:



Diseases related to phosphoglycerate kinase deficiency

Clinical Features for Phosphoglycerate Kinase Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

300653

Clinical synopsis from OMIM:

300653

Drugs & Therapeutics for Phosphoglycerate Kinase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Phosphoglycerate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phosphoglycerate Kinase 1 Deficiency20 22 PGK1
2 Deficiency Of Phosphoglycerate Kinase22

Anatomical Context for Phosphoglycerate Kinase Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

33
Brain, Heart, Skin

Animal Models for Phosphoglycerate Kinase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Phosphoglycerate Kinase Deficiency

Sources:
51PubMed
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Articles related to Phosphoglycerate Kinase Deficiency:

(show all 43)
idTitleAuthorsYear
1
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency. (23336698)
2013
2
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization. (22705348)
2012
3
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. (22348148)
2012
4
Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation. (21269848)
2011
5
Gene therapy for canine leukocyte adhesion deficiency with lentiviral vectors using the murine stem cell virus and human phosphoglycerate kinase promoters. (21275758)
2011
6
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. (20151463)
2010
7
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations. (19157875)
2009
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
Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. (10916683)
2000
13
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
14
Mitochondrial changes in muscle phosphoglycerate kinase deficiency. (8998855)
1996
15
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency. (7603527)
1995
16
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). (8122886)
1994
17
Phosphoglycerate kinase deficiency. (8035953)
1994
18
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) (7679780)
1993
19
1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency]. (1591023)
1992
20
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. (2715616)
1989
21
2,3-Diphosphoglycerate and 3-phosphoglycerate in red cell pyruvate kinase deficiency. (3408678)
1988
22
Red cell 3-phosphoglycerate level as a diagnostic aid in pyruvate kinase deficiency. (3426966)
1987
23
Phosphoglycerate kinase deficiency: biochemical studies on hair follicles. (3806012)
1986
24
Immunochemical studies on phosphoglycerate kinase deficiency. (3099814)
1986
25
Lack of effect of increased 2,3-diphosphoglycerate on flux through the oxidative pathway in phosphoglycerate kinase deficiency. (4042351)
1985
26
Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme. (6544372)
1984
27
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. (6830158)
1983
28
A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. (7082849)
1982
29
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. (7348995)
1981
30
A screening test for phosphoglycerate kinase deficiency. (6974537)
1981
31
Erythrocyte phosphoglycerate kinase deficiency: enzymatic and oxygen binding studies. (6938182)
1980
32
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. (6770677)
1980
33
Tissue levels of glycolytic enzymes in phosphoglycerate kinase deficiency. (6256101)
1980
34
A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK Munchen) associated with enzyme deficiency. (7391028)
1980
35
Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity. (817852)
1976
36
Neutrophil function in congenital phosphoglycerate kinase deficiency. (4215037)
1974
37
Evidence of the decreased muscle enzyme activity in erythrocyte phosphoglycerate kinase deficiency. (4858637)
1974
38
Red cell glycolysis in a case of 3-phosphoglycerate kinase deficiency. (4405721)
1973
39
1,3-Diphosphoglycerate in phosphoglycerate kinase deficiency. (4776485)
1973
40
Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. (4698932)
1973
41
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. (5764452)
1969
42
Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia. (4230542)
1968
43
Hereditary hemolytic anemia: association with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. (5721411)
1968

Genetic Variations for Phosphoglycerate Kinase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Phosphoglycerate Kinase Deficiency:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Phosphoglycerate Kinase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 54Reactome
See all sources

Pathways related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1PGK1, PFKM
2
Hide members
9.1PGK1, PFKM
3
Galactose metabolism
Hide members
9.0PYGM, PFKM
4
Hide members
8.5PGK1, PFKM, PYGM
5
Hide members
8.5PGK1, PFKM, PYGM

Compounds for genes affiliated with Phosphoglycerate Kinase Deficiency

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
See all sources

Compounds related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
13-phosphoglycerate459.7PRKG1, PGK1
2hpaii459.7PGK1, PRKG1
3thymine45 2410.6PGK1, PRKG1
4hypoxanthine45 11 2411.6PRKG1, PGK1
5glucose 6-phosphate45 2410.4PRKG1, PYGM
6polyacrylamide459.4PGK1, PRKG1
7glyceraldehyde 3-phosphate459.3PRKG1, PGK1
8phosphocreatine45 2410.2PFKM, PYGM
9guanine45 11 2411.1PGK1, PRKG1
10carnitine458.8PFKM, PRKG1, PYGM
11glycogen45 249.7PYGM, PRKG1, PFKM
12adp45 29 2410.7PRKG1, PFKM, PGK1
13Adenosine triphosphate11 249.6PGK1, PFKM, PRKG1
14pyruvate458.3PGK1, PFKM, PRKG1, PYGM
15lactate458.3PYGM, PRKG1, PFKM, PGK1
16atp45 299.3PGK1, PFKM, PRKG1, PYGM
17glucose458.2PYGM, PRKG1, PFKM, PGK1

GO Terms for genes affiliated with Phosphoglycerate Kinase Deficiency

Sources:
16Gene Ontology
See all sources

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

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

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

idNameGO IDScoreTop Affiliating Genes
1glycolysisGO:0060969.1PGK1, PFKM
2glucose metabolic processGO:0060068.4PGK1, PFKM, PYGM
3carbohydrate metabolic processGO:0059758.2PGK1, PFKM, PYGM

Products for genes affiliated with Phosphoglycerate Kinase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phosphoglycerate Kinase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet