MCID: PHS009
MIFTS: 34

Phosphoglycerate Kinase Deficiency malady

Categories: Rare diseases

Aliases & Classifications for Phosphoglycerate Kinase Deficiency

Aliases & Descriptions for Phosphoglycerate Kinase Deficiency:

Name: Phosphoglycerate Kinase Deficiency 50 25 29
Phosphoglycerate Kinase 1 Deficiency 50 25 69
Pgk Deficiency 50 25 52
Pgk1 Deficiency 50 25
Deficiency of Phosphoglycerate Kinase 69

Classifications:



Summaries for Phosphoglycerate Kinase Deficiency

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/superpathways are Glycosaminoglycan metabolism and Carbon metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include heart, skin and eye, and related phenotypes are Decreased cell proliferation 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

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

(show all 13)
id Related Disease Score Top Affiliating Genes
1 phosphoglycerate kinase 1 deficiency 12.6
2 myoglobinuria, acute recurrent, autosomal recessive 11.1
3 hemolytic anemia 10.2
4 myoglobinuria 10.1
5 hepatitis b 10.0 PGK1 TPI1
6 myopathy 9.9
7 myxozoa 9.9 PRKG1 PYGM
8 native american myopathy 9.8 PFKM PYGM
9 neuronopathy, distal hereditary motor, type vi 9.8 PFKM PYGM
10 anuria 9.8 PFKM PYGM
11 hemangioma 9.7 PFKM PYGM
12 b-cell childhood acute lymphoblastic leukemia 9.7 PFKM PRKG1 PYGM
13 pili torti developmental delay neurological abnormalities 9.3 PFKM PGK1 PRKG1 PYGM TPI1

Graphical network of the top 20 diseases related to Phosphoglycerate Kinase Deficiency:



Diseases related to Phosphoglycerate Kinase Deficiency

Symptoms & Phenotypes for Phosphoglycerate Kinase Deficiency

UMLS symptoms related to Phosphoglycerate Kinase Deficiency:


ataxia, seizures

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell proliferation GR00353-A 9.26 PFKM PGK1
2 Decreased viability after gemcitabine stimulation GR00107-A-2 9.16 PFKM PRKG1
3 Increased simian virus 40 (SV40) infection GR00356-A-2 8.96 PGK1 PRKG1
4 Transferrin accumulation in the perinuclear area GR00356-A-3 8.62 PGK1 PRKG1

Drugs & Therapeutics for Phosphoglycerate Kinase Deficiency

Drugs for Phosphoglycerate Kinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 Unrelated Donor BMT for Treatment of Patients With PGK Deficiency Completed NCT00592540
2 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

Search NIH Clinical Center for Phosphoglycerate Kinase Deficiency

Genetic Tests for Phosphoglycerate Kinase Deficiency

Genetic tests related to Phosphoglycerate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Deficiency of Phosphoglycerate Kinase 29

Anatomical Context for Phosphoglycerate Kinase Deficiency

MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

39
Heart, Skin, Eye, Brain, Testes, Neutrophil

Publications for Phosphoglycerate Kinase Deficiency

Articles related to Phosphoglycerate Kinase Deficiency:

(show all 37)
id Title Authors Year
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

ClinVar genetic disease variations for Phosphoglycerate Kinase Deficiency:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 PGK1 NM_000291.3(PGK1): c.1132A> C (p.Thr378Pro) single nucleotide variant Pathogenic rs137852539 GRCh38 Chromosome X, 78125344: 78125344
2 PGK1 NM_000291.3(PGK1): c.802G> A (p.Asp268Asn) single nucleotide variant Pathogenic rs137852528 GRCh37 Chromosome X, 77378737: 77378737
3 PGK1 NM_000291.3(PGK1): c.617G> C (p.Arg206Pro) single nucleotide variant Pathogenic rs137852529 GRCh37 Chromosome X, 77373643: 77373643
4 PGK1 NM_000291.3(PGK1): c.796_798delGTCinsATG (p.Val266Met) indel Pathogenic rs431905501 GRCh37 Chromosome X, 77378731: 77378733
5 PGK1 NM_000291.3(PGK1): c.263T> C (p.Leu88Pro) single nucleotide variant Pathogenic rs137852531 GRCh37 Chromosome X, 77369387: 77369387
6 PGK1 NM_000291.3(PGK1): c.473G> T (p.Gly158Val) single nucleotide variant Pathogenic rs137852532 GRCh37 Chromosome X, 77372864: 77372864
7 PGK1 NM_000291.3(PGK1): c.946T> C (p.Cys316Arg) single nucleotide variant Pathogenic rs137852533 GRCh37 Chromosome X, 77380380: 77380380
8 PGK1 NM_000291.3(PGK1): c.574_576delAAG (p.Lys192del) deletion Pathogenic rs431905502 GRCh37 Chromosome X, 77373600: 77373602
9 PGK1 NM_000291.3(PGK1): c.758T> C (p.Ile253Thr) single nucleotide variant Pathogenic rs137852534 GRCh37 Chromosome X, 77378693: 77378693
10 PGK1 NM_000291.3(PGK1): c.854A> T (p.Asp285Val) single nucleotide variant Pathogenic rs137852535 GRCh37 Chromosome X, 77378789: 77378789
11 PGK1 NM_000291.3(PGK1): c.140T> A (p.Ile47Asn) single nucleotide variant Pathogenic rs137852536 GRCh37 Chromosome X, 77369264: 77369264
12 PGK1 NM_000291.3(PGK1): c.959G> A (p.Ser320Asn) single nucleotide variant Pathogenic rs137852537 GRCh37 Chromosome X, 77380393: 77380393
13 PGK1 NM_000291.3(PGK1): c.491A> T (p.Asp164Val) single nucleotide variant Pathogenic rs137852538 GRCh37 Chromosome X, 77372882: 77372882
14 PGK1 NM_000291.3(PGK1): c.756+5G> A single nucleotide variant Pathogenic rs431905503 GRCh37 Chromosome X, 77378451: 77378451

Expression for Phosphoglycerate Kinase Deficiency

Search GEO for disease gene expression data for Phosphoglycerate Kinase Deficiency.

Pathways for Phosphoglycerate Kinase Deficiency

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 PFKM PGK1 PYGM TPI1
2
Show member pathways
11.75 PFKM PGK1 TPI1
3
Show member pathways
11.5 PFKM PGK1 PYGM TPI1
4
Show member pathways
11.49 PFKM PYGM
5
Show member pathways
11.38 PFKM PGK1
6
Show member pathways
10.99 PFKM TPI1
7 10.36 PGK1 TPI1

GO Terms for Phosphoglycerate Kinase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.02 PFKM PGK1 PRKG1 PYGM TPI1

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

id Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.54 PFKM PGK1 PRKG1
2 metabolic process GO:0008152 9.46 PFKM PRKG1 PYGM TPI1
3 gluconeogenesis GO:0006094 9.32 PGK1 TPI1
4 glycogen catabolic process GO:0005980 9.26 PFKM PYGM
5 glycolytic process GO:0006096 9.13 PFKM PGK1 TPI1
6 canonical glycolysis GO:0061621 8.8 PFKM PGK1 TPI1

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

id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.33 PFKM PGK1 PRKG1
2 transferase activity GO:0016740 9.26 PFKM PGK1 PRKG1 PYGM
3 catalytic activity GO:0003824 8.8 PFKM PRKG1 PYGM

Sources for Phosphoglycerate Kinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....