MCID: PHS009
MIFTS: 37

Phosphoglycerate Kinase Deficiency malady

Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases categories

Aliases & Classifications for Phosphoglycerate Kinase Deficiency

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Phosphoglycerate Kinase Deficiency, Aliases & Descriptions:

Name: Phosphoglycerate Kinase Deficiency 41 21 22
Phosphoglycerate Kinase 1 Deficiency 41 21 60
Pgk Deficiency 41 21 43
Glycogen Storage Disease Due to Phosphoglycerate Kinase 1 Deficiency 41 47
 
Glycogenosis Due to Phosphoglycerate Kinase 1 Deficiency 41 47
Gsd Due to Phosphoglycerate Kinase 1 Deficiency 41 47
Pgk1 Deficiency 41 21
Deficiency of Phosphoglycerate Kinase 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
glycogen storage disease due to phosphoglycerate kinase 1 deficiency:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages


External Ids:

Orphanet47 713
ICD10 via Orphanet26 D55.2
UMLS via Orphanet61 C0684324

Summaries for Phosphoglycerate Kinase Deficiency

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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 based summary: Phosphoglycerate Kinase Deficiency, also known as phosphoglycerate kinase 1 deficiency, is related to hemolytic anemia and mental retardation. 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 eye, brain and heart.

Wikipedia:63 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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Drugs & Therapeutics for Phosphoglycerate Kinase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Phosphoglycerate Kinase Deficiency

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 Kinase22

Anatomical Context for Phosphoglycerate Kinase Deficiency

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MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

31
Eye, Brain, Heart, Skin, Testes, Neutrophil

Animal Models for Phosphoglycerate Kinase Deficiency or affiliated genes

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Publications for Phosphoglycerate Kinase Deficiency

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Articles related to Phosphoglycerate Kinase Deficiency:

(show all 34)
idTitleAuthorsYear
1
Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A&gt;G) manifesting as chronic hemolytic anemia in a Japanese boy. (24934115)
2014
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
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. (20151463)
2010
6
Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. (17661373)
2007
7
Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing? (12543909)
2003
8
Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. (10720297)
2000
9
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. (10809925)
2000
10
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
11
Mitochondrial changes in muscle phosphoglycerate kinase deficiency. (8998855)
1996
12
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). (8122886)
1994
13
Phosphoglycerate kinase deficiency. (8035953)
1994
14
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) (7679780)
1993
15
1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency]. (1591023)
1992
16
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. (2715616)
1989
17
Phosphoglycerate kinase deficiency: biochemical studies on hair follicles. (3806012)
1986
18
Immunochemical studies on phosphoglycerate kinase deficiency. (3099814)
1986
19
Lack of effect of increased 2,3-diphosphoglycerate on flux through the oxidative pathway in phosphoglycerate kinase deficiency. (4042351)
1985
20
Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme. (6544372)
1984
21
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. (6830158)
1983
22
A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. (7082849)
1982
23
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. (7348995)
1981
24
A screening test for phosphoglycerate kinase deficiency. (6974537)
1981
25
Erythrocyte phosphoglycerate kinase deficiency: enzymatic and oxygen binding studies. (6938182)
1980
26
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. (6770677)
1980
27
Tissue levels of glycolytic enzymes in phosphoglycerate kinase deficiency. (6256101)
1980
28
Neutrophil function in congenital phosphoglycerate kinase deficiency. (4215037)
1974
29
Evidence of the decreased muscle enzyme activity in erythrocyte phosphoglycerate kinase deficiency. (4858637)
1974
30
1,3-Diphosphoglycerate in phosphoglycerate kinase deficiency. (4776485)
1973
31
Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. (4698932)
1973
32
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. (5764452)
1969
33
Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia. (4230542)
1968
34
Hereditary hemolytic anemia: association with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. (5721411)
1968

Variations for Phosphoglycerate Kinase Deficiency

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Clinvar genetic disease variations for Phosphoglycerate Kinase Deficiency:

6 (show all 14)
id Gene Variation 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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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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
glycolysis36
gluconeogenesis36
Glycolysis and Gluconeogenesis36
9.1PFKM, PGK1
2
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.1PFKM, PGK1
3
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
9.1PFKM, PGK1
4
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I36
galactose degradation I (Leloir pathway)36
Cori Cycle36
9.0PYGM, PFKM
5
Show member pathways
8.5PFKM, PGK1, PYGM
6
Show member pathways
malate-aspartate shuttle36
glycogen biosynthesis II (from UDP-D-Glucose)36
8.5PFKM, PGK1, PYGM

Compounds for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR
See all sources

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

(show all 18)
idCompoundScoreTop Affiliating Genes
13-phosphoglycerate439.7PRKG1, PGK1
2hpaii439.7PRKG1, PGK1
3thymine43 2410.6PRKG1, PGK1
4hypoxanthine43 24 1211.6PGK1, PRKG1
5glucose 6-phosphate43 2410.4PRKG1, PYGM
6glyceraldehyde 3-phosphate439.4PRKG1, PGK1
7guanine43 24 1211.3PRKG1, PGK1
8phosphocreatine43 2410.3PFKM, PYGM
9polyacrylamide439.1PGK1, PRKG1
10carnitine438.8PRKG1, PFKM, PYGM
11tyrosine438.8PRKG1, PGK1, PYGM
12adp43 28 2410.8PRKG1, PFKM, PGK1
13glycogen43 249.7PYGM, PFKM, PRKG1
14Adenosine triphosphate24 129.7PGK1, PFKM, PRKG1
15pyruvate438.3PRKG1, PFKM, PGK1, PYGM
16lactate438.3PYGM, PGK1, PFKM, PRKG1
17atp43 289.3PYGM, PGK1, PFKM, PRKG1
18glucose438.3PYGM, PGK1, PFKM, PRKG1

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:00058298.0PRKG1, PFKM, PGK1, PYGM

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

idNameGO IDScoreTop Affiliating Genes
1glycolytic processGO:00060968.8PFKM, PGK1
2glucose metabolic processGO:00060068.5PFKM, PGK1, PYGM
3small molecule metabolic processGO:00442818.5PFKM, PGK1, PYGM
4carbohydrate metabolic processGO:00059758.4PYGM, PGK1, PFKM

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

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055248.6PRKG1, PFKM, PGK1

Products for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources for Phosphoglycerate Kinase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet