Aliases & Classifications for Phosphoglycerate Kinase Deficiency

MalaCards integrated aliases for Phosphoglycerate Kinase Deficiency:

Name: Phosphoglycerate Kinase Deficiency 49 24
Phosphoglycerate Kinase 1 Deficiency 49 24 69
Pgk Deficiency 49 24 51
Deficiency of Phosphoglycerate Kinase 28 69
Pgk1 Deficiency 49 24

Classifications:



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Summaries for Phosphoglycerate Kinase Deficiency

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 713Disease definitionPhosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.EpidemiologyPrevalence is unknown but about 30 unrelated affected families have been reported so far.Clinical descriptionThe majority of patients present with chronic hemolytic anemia, which may be severe in some cases. Myopathy is a common finding and is characterized by exercise-intolerance, muscle weakness, cramping, myalgia and episodes of myoglobinuria. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent, and other central nervous system manifestations may be also present including hemiplegic migraines, epilepsy, ataxia and tremor. Only a few patients show all three cardinal features of the disorder (hemolytic anemia, central nervous system abnormalities and myopathy), and several cases of PGK deficiency with myopathy in the absence of hemolytic anemia have been reported. Only one asymptomatic patient has been described with mild PGK deficiency.EtiologyPGK deficiency is caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. PGK is a key enzyme in the glycolytic pathway catalyzing the conversion of 1,3-bisphosphoglycerate into 3-phosphoglycerate and generating ATP. PGK is a ubiquitous enzyme expressed in all tissues except the testes.Diagnostic methodsDiagnosis is made on the basis of the clinical picture, together with biochemical studies revealing low erythrocyte and muscle PGK enzyme activity (below 23% and 25% of normal respectively), and identification of PGK1 gene mutations by molecular analysis.Differential diagnosisThe differential diagnosis should include other causes of hereditary nonspherocytic hemolytic anemia.Antenatal diagnosisMolecular prenatal diagnosis is feasible for families of an index case.Genetic counselingPGK deficiency is inherited as an X-linkedtrait and most of the reported patients were hemizygous males. However, heterozygous females may have a variable degree of hemolytic anemia.Management and treatmentIn patients with severe chronic anemia, regular blood transfusions are required. Splenectomy has been shown to be beneficial in some cases.PrognosisThe prognosis is variable, depending on the severity of the anemia and on the presence of the other manifestations.Visit the Orphanet disease page for more resources. Last updated: 8/16/2008

MalaCards based summary : Phosphoglycerate Kinase Deficiency, also known as phosphoglycerate kinase 1 deficiency, is related to hemolytic anemia and myoglobinuria, and has symptoms including seizures and ataxia. An important gene associated with Phosphoglycerate Kinase Deficiency is PGK1 (Phosphoglycerate Kinase 1), 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 skin, eye and heart, and related phenotypes are Decreased cell proliferation and Decreased viability after gemcitabine stimulation

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.

Related Diseases for Phosphoglycerate Kinase Deficiency

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:


seizures, ataxia

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

25
# 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):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Deficiency of Phosphoglycerate Kinase 28

Anatomical Context for Phosphoglycerate Kinase Deficiency

MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

38
Skin, Eye, Heart, Brain, Neutrophil, Testes

Publications for Phosphoglycerate Kinase Deficiency

Articles related to Phosphoglycerate Kinase Deficiency:

(show all 39)
# Title Authors Year
1
Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism? ( 28649613 )
2017
2
Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency. ( 28801086 )
2017
3
Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency. ( 26883264 )
2016
4
A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report. ( 26396085 )
2015
5
Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy. ( 24934115 )
2014
6
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. ( 22348148 )
2012
7
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization. ( 22705348 )
2012
8
Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation. ( 21269848 )
2011
9
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. ( 20151463 )
2010
10
Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. ( 17661373 )
2007
11
Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing? ( 12543909 )
2003
12
Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. ( 10720297 )
2000
13
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. ( 10809925 )
2000
14
A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. ( 9512313 )
1998
15
Mitochondrial changes in muscle phosphoglycerate kinase deficiency. ( 8998855 )
1996
16
Phosphoglycerate kinase deficiency. ( 8035953 )
1994
17
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). ( 8122886 )
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
Immunochemical studies on phosphoglycerate kinase deficiency. ( 3099814 )
1986
22
Phosphoglycerate kinase deficiency: biochemical studies on hair follicles. ( 3806012 )
1986
23
Lack of effect of increased 2,3-diphosphoglycerate on flux through the oxidative pathway in phosphoglycerate kinase deficiency. ( 4042351 )
1985
24
Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme. ( 6544372 )
1984
25
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. ( 6830158 )
1983
26
A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. ( 7082849 )
1982
27
A screening test for phosphoglycerate kinase deficiency. ( 6974537 )
1981
28
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. ( 7348995 )
1981
29
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. ( 6770677 )
1980
30
Erythrocyte phosphoglycerate kinase deficiency: enzymatic and oxygen binding studies. ( 6938182 )
1980
31
Tissue levels of glycolytic enzymes in phosphoglycerate kinase deficiency. ( 6256101 )
1980
32
Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity. ( 817852 )
1976
33
Evidence of the decreased muscle enzyme activity in erythrocyte phosphoglycerate kinase deficiency. ( 4858637 )
1974
34
Neutrophil function in congenital phosphoglycerate kinase deficiency. ( 4215037 )
1974
35
Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. ( 4698932 )
1973
36
1,3-Diphosphoglycerate in phosphoglycerate kinase deficiency. ( 4776485 )
1973
37
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. ( 5764452 )
1969
38
Hereditary hemolytic anemia: association with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. ( 5721411 )
1968
39
Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia. ( 4230542 )
1968

Variations for Phosphoglycerate Kinase Deficiency

ClinVar genetic disease variations for Phosphoglycerate Kinase Deficiency:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PGK1 NM_000291.3(PGK1): c.802G> A (p.Asp268Asn) single nucleotide variant Pathogenic rs137852528 GRCh37 Chromosome X, 77378737: 77378737
2 PGK1 NM_000291.3(PGK1): c.617G> C (p.Arg206Pro) single nucleotide variant Pathogenic rs137852529 GRCh37 Chromosome X, 77373643: 77373643
3 PGK1 NM_000291.3(PGK1): c.796_798delGTCinsATG (p.Val266Met) indel Pathogenic rs431905501 GRCh37 Chromosome X, 77378731: 77378733
4 PGK1 NM_000291.3(PGK1): c.263T> C (p.Leu88Pro) single nucleotide variant Pathogenic rs137852531 GRCh37 Chromosome X, 77369387: 77369387
5 PGK1 NM_000291.3(PGK1): c.473G> T (p.Gly158Val) single nucleotide variant Pathogenic rs137852532 GRCh37 Chromosome X, 77372864: 77372864
6 PGK1 NM_000291.3(PGK1): c.946T> C (p.Cys316Arg) single nucleotide variant Pathogenic rs137852533 GRCh37 Chromosome X, 77380380: 77380380
7 PGK1 NM_000291.3(PGK1): c.574_576delAAG (p.Lys192del) deletion Pathogenic rs431905502 GRCh37 Chromosome X, 77373600: 77373602
8 PGK1 NM_000291.3(PGK1): c.758T> C (p.Ile253Thr) single nucleotide variant Pathogenic rs137852534 GRCh37 Chromosome X, 77378693: 77378693
9 PGK1 NM_000291.3(PGK1): c.854A> T (p.Asp285Val) single nucleotide variant Pathogenic rs137852535 GRCh37 Chromosome X, 77378789: 77378789
10 PGK1 NM_000291.3(PGK1): c.140T> A (p.Ile47Asn) single nucleotide variant Pathogenic rs137852536 GRCh37 Chromosome X, 77369264: 77369264
11 PGK1 NM_000291.3(PGK1): c.959G> A (p.Ser320Asn) single nucleotide variant Pathogenic rs137852537 GRCh37 Chromosome X, 77380393: 77380393
12 PGK1 NM_000291.3(PGK1): c.491A> T (p.Asp164Val) single nucleotide variant Pathogenic rs137852538 GRCh37 Chromosome X, 77372882: 77372882
13 PGK1 NM_000291.3(PGK1): c.756+5G> A single nucleotide variant Pathogenic rs431905503 GRCh37 Chromosome X, 77378451: 77378451
14 PGK1 NM_000291.3(PGK1): c.1132A> C (p.Thr378Pro) single nucleotide variant Pathogenic rs137852539 GRCh37 Chromosome X, 77380841: 77380841

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 PFKM PGK1 PYGM TPI1
2
Show member pathways
11.76 PFKM PGK1 TPI1
3
Show member pathways
11.51 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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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