MCID: PHS009
MIFTS: 37

Phosphoglycerate Kinase Deficiency

Categories: Rare diseases

Aliases & Classifications for Phosphoglycerate Kinase Deficiency

MalaCards integrated aliases for Phosphoglycerate Kinase Deficiency:

Name: Phosphoglycerate Kinase Deficiency 53 25
Phosphoglycerate Kinase 1 Deficiency 53 25 73
Pgk Deficiency 53 25 55
Deficiency of Phosphoglycerate Kinase 29 73
Pgk1 Deficiency 53 25

Classifications:



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Summaries for Phosphoglycerate Kinase Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Phosphoglycerate Kinase Deficiency, also known as phosphoglycerate kinase 1 deficiency, is related to myoglobinuria, recurrent and hemolytic anemia, and has symptoms including ataxia and seizures. An important gene associated with Phosphoglycerate Kinase Deficiency is PRKG1 (Protein Kinase CGMP-Dependent 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 : 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.

Wikipedia : 76 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 11)
# Related Disease Score Top Affiliating Genes
1 myoglobinuria, recurrent 30.0 PRKG1 PYGM
2 hemolytic anemia 29.4 PGK1 TPI1
3 myoglobinuria 29.2 PFKM PYGM
4 myopathy 27.9 PFKM PGK1 PYGM
5 phosphoglycerate kinase 1 deficiency 12.7
6 myoglobinuria, acute recurrent, autosomal recessive 11.1
7 leukodystrophy 9.9
8 glycogen storage disease vii 9.4 PFKM PYGM
9 glycogen storage disease v 9.4 PFKM PYGM
10 carbohydrate metabolic disorder 9.4 PFKM PYGM
11 glycogen storage disease 9.1 PFKM PYGM

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
# 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 Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Unrelated Donor BMT for Treatment of Patients With PGK Deficiency Completed NCT00592540 Not Applicable
2 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

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 29

Anatomical Context for Phosphoglycerate Kinase Deficiency

MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

41
Skin, Eye, Heart, Brain, Neutrophil, Testes

Publications for Phosphoglycerate Kinase Deficiency

Articles related to Phosphoglycerate Kinase Deficiency:

(show all 41)
# Title Authors Year
1
Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency. ( 28801086 )
2017
2
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
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
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses. ( 24838780 )
2014
6
Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy. ( 24934115 )
2014
7
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency. ( 23336698 )
2013
8
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. ( 22348148 )
2012
9
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization. ( 22705348 )
2012
10
Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation. ( 21269848 )
2011
11
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. ( 20151463 )
2010
12
Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. ( 17661373 )
2007
13
Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing? ( 12543909 )
2003
14
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. ( 10809925 )
2000
15
Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. ( 10720297 )
2000
16
A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. ( 9512313 )
1998
17
Mitochondrial changes in muscle phosphoglycerate kinase deficiency. ( 8998855 )
1996
18
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). ( 8122886 )
1994
19
Phosphoglycerate kinase deficiency. ( 8035953 )
1994
20
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) ( 7679780 )
1993
21
[1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency]. ( 1591023 )
1992
22
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. ( 2715616 )
1989
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
Tissue levels of glycolytic enzymes in phosphoglycerate kinase deficiency. ( 6256101 )
1980
33
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. ( 6770677 )
1980
34
Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity. ( 817852 )
1976
35
Evidence of the decreased muscle enzyme activity in erythrocyte phosphoglycerate kinase deficiency. ( 4858637 )
1974
36
Neutrophil function in congenital phosphoglycerate kinase deficiency. ( 4215037 )
1974
37
1,3-Diphosphoglycerate in phosphoglycerate kinase deficiency. ( 4776485 )
1973
38
Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. ( 4698932 )
1973
39
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. ( 5764452 )
1969
40
Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia. ( 4230542 )
1968
41
Hereditary hemolytic anemia: association with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. ( 5721411 )
1968

Variations for Phosphoglycerate Kinase Deficiency

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 extracellular exosome GO:0070062 9.26 PFKM PGK1 PYGM TPI1
2 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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