MCID: PHS009
MIFTS: 50

Phosphoglycerate Kinase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases categories
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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, and has symptoms including 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:65 Phosphoglycerate kinase (EC 2.7.2.3) (PGK) is an enzyme that catalyzes the reversible transfer of a... more...

Description from OMIM:46 300653

Aliases & Classifications for Phosphoglycerate Kinase Deficiency

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Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 44Novoseek, 20GeneTests, 46OMIM, 62UMLS, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Phosphoglycerate Kinase Deficiency, Aliases & Descriptions:

Name: Phosphoglycerate Kinase Deficiency 42 22 21
Phosphoglycerate Kinase 1 Deficiency 42 20 22 21 46 62
Pgk Deficiency 42 21 44
Pgk1 Deficiency 42 21
 
Glycogen Storage Disease Due to Phosphoglycerate Kinase 1 Deficiency 48
Glycogenosis Due to Phosphoglycerate Kinase 1 Deficiency 48
Gsd Due to Phosphoglycerate Kinase 1 Deficiency 48
Deficiency of Phosphoglycerate Kinase 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
glycogen storage disease due to phosphoglycerate kinase 1 deficiency:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Variable


External Ids:

OMIM46 300653
ICD10 via Orphanet26 D55.2
UMLS via Orphanet63 C0684324

Related Diseases for Phosphoglycerate Kinase Deficiency

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia30.9PRKG1, PGK1
2mental retardation30.2PGK1, PRKG1
3myopathy30.1PRKG1, PFKM, PYGM
4neurologic diseases10.2
5myoglobinuria, acute recurrent, autosomal recessive10.2
6myoglobinuria recurrent10.0PYGM, PRKG1
7aplastic anemia10.0PGK1, PRKG1
8glycogen storage disease vii9.9PYGM, PFKM
9glycogen storage disease v9.9PFKM, PYGM
10glycogen storage disease9.9PFKM, PYGM
11type 2 diabetes mellitus9.8PFKM, PYGM

Graphical network of diseases related to Phosphoglycerate Kinase Deficiency:



Diseases related to phosphoglycerate kinase deficiency

Symptoms for Phosphoglycerate Kinase Deficiency

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Symptoms by clinical synopsis from OMIM:

300653

Clinical features from OMIM:

300653

HPO human phenotypes related to Phosphoglycerate Kinase Deficiency:

(show all 19)
id Description Frequency HPO Source Accession
1 hemolytic anemia 60% HP:0001878
2 global developmental delay typical (50%) HP:0001263
3 myopathy 45% HP:0003198
4 renal insufficiency HP:0000083
5 retinal dystrophy HP:0000556
6 visual loss HP:0000572
7 emotional lability HP:0000712
8 delayed speech and language development HP:0000750
9 intellectual disability HP:0001249
10 seizures HP:0001250
11 ataxia HP:0001251
12 x-linked recessive inheritance HP:0001419
13 reticulocytosis HP:0001923
14 migraine HP:0002076
15 rhabdomyolysis HP:0003201
16 exercise intolerance HP:0003546
17 exercise-induced muscle cramps HP:0003710
18 phenotypic variability HP:0003812
19 exercise-induced myoglobinuria HP:0008305

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 Phosphoglycerate Kinase 1 Deficiency20 22 PGK1
2 Deficiency of Phosphoglycerate Kinase22

Anatomical Context for Phosphoglycerate Kinase Deficiency

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MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

32
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
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. (22348148)
2012
3
Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation. (21269848)
2011
4
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. (20151463)
2010
5
Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. (17661373)
2007
6
Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing? (12543909)
2003
7
Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. (10720297)
2000
8
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. (10809925)
2000
9
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
10
Mitochondrial changes in muscle phosphoglycerate kinase deficiency. (8998855)
1996
11
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). (8122886)
1994
12
Phosphoglycerate kinase deficiency. (8035953)
1994
13
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) (7679780)
1993
14
1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency]. (1591023)
1992
15
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. (2715616)
1989
16
Phosphoglycerate kinase deficiency: biochemical studies on hair follicles. (3806012)
1986
17
Immunochemical studies on phosphoglycerate kinase deficiency. (3099814)
1986
18
Lack of effect of increased 2,3-diphosphoglycerate on flux through the oxidative pathway in phosphoglycerate kinase deficiency. (4042351)
1985
19
Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme. (6544372)
1984
20
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. (6830158)
1983
21
A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. (7082849)
1982
22
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. (7348995)
1981
23
A screening test for phosphoglycerate kinase deficiency. (6974537)
1981
24
Erythrocyte phosphoglycerate kinase deficiency: enzymatic and oxygen binding studies. (6938182)
1980
25
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. (6770677)
1980
26
Tissue levels of glycolytic enzymes in phosphoglycerate kinase deficiency. (6256101)
1980
27
Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity. (817852)
1976
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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UniProtKB/Swiss-Prot genetic disease variations for Phosphoglycerate Kinase Deficiency:

64
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Phosphoglycerate Kinase Deficiency:

6 (show all 14)
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Phosphoglycerate Kinase Deficiency

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Pathways for genes affiliated with Phosphoglycerate Kinase Deficiency

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
9.1PFKM, PGK1
2
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.1PFKM, PGK1
3
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.1PFKM, PGK1
4
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I37
galactose degradation I (Leloir pathway)37
Cori Cycle37
9.0PYGM, PFKM
5
Show member pathways
8.5PFKM, PGK1, PYGM
6
Show member pathways
malate-aspartate shuttle37
glycogen biosynthesis II (from UDP-D-Glucose)37
8.5PFKM, PGK1, PYGM

Compounds for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
13-phosphoglycerate449.7PRKG1, PGK1
2hpaii449.7PRKG1, PGK1
3thymine44 2410.6PRKG1, PGK1
4hypoxanthine44 24 1111.6PGK1, PRKG1
5glucose 6-phosphate44 2410.4PRKG1, PYGM
6glyceraldehyde 3-phosphate449.4PRKG1, PGK1
7guanine44 24 1111.3PRKG1, PGK1
8phosphocreatine44 2410.3PFKM, PYGM
9polyacrylamide449.1PGK1, PRKG1
10carnitine448.8PRKG1, PFKM, PYGM
11tyrosine448.8PRKG1, PGK1, PYGM
12adp44 28 2410.8PRKG1, PFKM, PGK1
13glycogen44 249.7PYGM, PFKM, PRKG1
14Adenosine triphosphate24 119.7PGK1, PFKM, PRKG1
15pyruvate448.3PRKG1, PFKM, PGK1, PYGM
16lactate448.3PYGM, PGK1, PFKM, PRKG1
17atp44 289.3PYGM, PGK1, PFKM, PRKG1
18glucose448.3PYGM, 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/GeneDecks:

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

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

idNameGO IDScoreTop Affiliating Genes
1glycolytic processGO:0060968.8PFKM, PGK1
2glucose metabolic processGO:0060068.5PFKM, PGK1, PYGM
3small molecule metabolic processGO:0442818.5PFKM, PGK1, PYGM
4carbohydrate metabolic processGO:0059758.4PYGM, PGK1, PFKM

Molecular functions related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055248.6PRKG1, PFKM, PGK1

Products for genes affiliated with Phosphoglycerate Kinase Deficiency

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  • Antibodies
  • Proteins
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet