PGK1D
MCID: PHS014
MIFTS: 33

Phosphoglycerate Kinase 1 Deficiency (PGK1D)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Phosphoglycerate Kinase 1 Deficiency

MalaCards integrated aliases for Phosphoglycerate Kinase 1 Deficiency:

Name: Phosphoglycerate Kinase 1 Deficiency 58 76 30 13 6 74
Pgk1 Deficiency 58 76
Glycogen Storage Disease Due to Phosphoglycerate Kinase 1 Deficiency 60
Glycogenosis Due to Phosphoglycerate Kinase 1 Deficiency 60
Gsd Due to Phosphoglycerate Kinase 1 Deficiency 60
Deficiency, Phosphoglycerate Kinase 1 41
Phosphoglycerate Kinase-1 13
Pgk1d 76

Characteristics:

Orphanet epidemiological data:

60
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Miscellaneous:
highly variable phenotype
variable age at onset (range infancy to adult)
heterozygous females may exhibit variable degrees of enzyme deficiency

Inheritance:
x-linked recessive


HPO:

33
phosphoglycerate kinase 1 deficiency:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Phosphoglycerate Kinase 1 Deficiency

OMIM : 58 Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006). (300653)

MalaCards based summary : Phosphoglycerate Kinase 1 Deficiency, also known as pgk1 deficiency, is related to phosphoglycerate kinase deficiency and breast cancer, and has symptoms including seizures and ataxia. An important gene associated with Phosphoglycerate Kinase 1 Deficiency is PGK1 (Phosphoglycerate Kinase 1). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include prostate, and related phenotypes are renal insufficiency and retinal dystrophy

UniProtKB/Swiss-Prot : 76 Phosphoglycerate kinase 1 deficiency: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations.

Related Diseases for Phosphoglycerate Kinase 1 Deficiency

Diseases related to Phosphoglycerate Kinase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 phosphoglycerate kinase deficiency 12.0
2 breast cancer 10.1
3 prostate cancer 10.1
4 pancreatic cancer 10.1
5 prostate cancer, hereditary, 8 10.1
6 prostate cancer, hereditary, 6 10.1

Graphical network of the top 20 diseases related to Phosphoglycerate Kinase 1 Deficiency:



Diseases related to Phosphoglycerate Kinase 1 Deficiency

Symptoms & Phenotypes for Phosphoglycerate Kinase 1 Deficiency

Human phenotypes related to Phosphoglycerate Kinase 1 Deficiency:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
2 retinal dystrophy 60 33 occasional (7.5%) Very rare (<4-1%) HP:0000556
3 visual loss 33 occasional (7.5%) HP:0000572
4 global developmental delay 60 33 very rare (1%) Frequent (79-30%) HP:0001263
5 myopathy 60 33 very rare (1%) Frequent (79-30%) HP:0003198
6 hemolytic anemia 60 33 very rare (1%) Frequent (79-30%) HP:0001878
7 intellectual disability 60 33 Frequent (79-30%) HP:0001249
8 ataxia 60 33 Frequent (79-30%) HP:0001251
9 delayed speech and language development 60 33 Frequent (79-30%) HP:0000750
10 migraine 60 33 Frequent (79-30%) HP:0002076
11 reticulocytosis 60 33 Frequent (79-30%) HP:0001923
12 rhabdomyolysis 60 33 Frequent (79-30%) HP:0003201
13 emotional lability 33 HP:0000712
14 seizures 33 HP:0001250
15 muscle weakness 60 Frequent (79-30%)
16 tremor 60 Frequent (79-30%)
17 blindness 60 Very rare (<4-1%)
18 muscle cramps 60 Frequent (79-30%)
19 hyperbilirubinemia 60 Frequent (79-30%)
20 exercise-induced muscle fatigue 60 Frequent (79-30%)
21 exercise intolerance 33 HP:0003546
22 exercise-induced myalgia 60 Frequent (79-30%)
23 myoglobinuria 60 Frequent (79-30%)
24 abnormality of nervous system physiology 60 Frequent (79-30%)
25 decreased hemoglobin concentration 60 Frequent (79-30%)
26 exercise-induced muscle cramps 33 HP:0003710
27 exercise-induced myoglobinuria 33 HP:0008305

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
developmental delay
mental retardation
speech delay
more
Laboratory Abnormalities:
increased reticulocyte count
decreased hemoglobin
increased serum bilirubin
myoglobinuria after exertion
decreased activity of phosphoglycerate kinase 1

Head And Neck Eyes:
retinal dystrophy (rare)
loss of vision (rare)

Hematology:
hemolytic anemia in approximately 60% of patients

Muscle Soft Tissue:
exercise intolerance
rhabdomyolysis
muscle cramps with exercise
myopathy in approximately 45% of patients

Neurologic Behavioral Psychiatric Manifestations:
emotional instability

Genitourinary Kidneys:
renal failure may occur with myoglobinuria

Clinical features from OMIM:

300653

UMLS symptoms related to Phosphoglycerate Kinase 1 Deficiency:


seizures, ataxia

Drugs & Therapeutics for Phosphoglycerate Kinase 1 Deficiency

Drugs for Phosphoglycerate Kinase 1 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 1 Deficiency

Genetic Tests for Phosphoglycerate Kinase 1 Deficiency

Genetic tests related to Phosphoglycerate Kinase 1 Deficiency:

# Genetic test Affiliating Genes
1 Phosphoglycerate Kinase 1 Deficiency 30 PGK1

Anatomical Context for Phosphoglycerate Kinase 1 Deficiency

MalaCards organs/tissues related to Phosphoglycerate Kinase 1 Deficiency:

42
Prostate

Publications for Phosphoglycerate Kinase 1 Deficiency

Articles related to Phosphoglycerate Kinase 1 Deficiency:

(show all 28)
# Title Authors Year
1
Hyperammonaemia following exercise may also reveal PGK1 deficiency. ( 30918011 )
2019
2
Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction. ( 30975619 )
2019
3
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency. ( 30570712 )
2018
4
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene. ( 25814383 )
2015
5
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses. ( 24838780 )
2014
6
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency. ( 23336698 )
2013
7
Protein Stability, Folding and Misfolding in Human PGK1 Deficiency. ( 24970202 )
2013
8
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations. ( 19157875 )
2009
9
Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing. ( 16567715 )
2006
10
Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain. ( 16412025 )
2006
11
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. ( 16671097 )
2006
12
The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. ( 16740138 )
2006
13
A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships. ( 9744480 )
1998
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
Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred. ( 7577653 )
1995
16
Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama). ( 8673469 )
1995
17
Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens. ( 8043870 )
1994
18
A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. ( 1547346 )
1992
19
Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation. ( 1586722 )
1992
20
Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3. ( 2001457 )
1991
21
Normal mRNA content in a phosphoglycerate kinase variant with severe enzyme deficiency. ( 3840329 )
1985
22
Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. ( 6941312 )
1981
23
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. ( 6770677 )
1980
24
Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. ( 6933565 )
1980
25
A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency. ( 7391028 )
1980
26
Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia. ( 411673 )
1977
27
Phosphoglycerate kinase (PKG) deficiency hereditary nonspherocytic hemolytic anemia: report of a case found in a Japanese family. ( 4676843 )
1972
28
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. ( 5764452 )
1969

Variations for Phosphoglycerate Kinase 1 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Phosphoglycerate Kinase 1 Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 PGK1 p.Leu88Pro VAR_006076 rs137852531
2 PGK1 p.Gly158Val VAR_006077 rs137852532
3 PGK1 p.Asp164Val VAR_006078 rs137852538
4 PGK1 p.Arg206Pro VAR_006080 rs137852529
5 PGK1 p.Glu252Ala VAR_006081
6 PGK1 p.Val266Met VAR_006082 rs431905501
7 PGK1 p.Asp285Val VAR_006084 rs137852535
8 PGK1 p.Asp315Asn VAR_006085
9 PGK1 p.Cys316Arg VAR_006086 rs137852533

ClinVar genetic disease variations for Phosphoglycerate Kinase 1 Deficiency:

6 (show all 34)
# 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.802G> A (p.Asp268Asn) single nucleotide variant Pathogenic rs137852528 GRCh38 Chromosome X, 78123240: 78123240
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.617G> C (p.Arg206Pro) single nucleotide variant Pathogenic rs137852529 GRCh38 Chromosome X, 78118146: 78118146
5 PGK1 NM_000291.3(PGK1): c.796_798delGTCinsATG (p.Val266Met) indel Pathogenic rs431905501 GRCh37 Chromosome X, 77378731: 77378733
6 PGK1 NM_000291.3(PGK1): c.796_798delGTCinsATG (p.Val266Met) indel Pathogenic rs431905501 GRCh38 Chromosome X, 78123234: 78123236
7 PGK1 NM_000291.3(PGK1): c.263T> C (p.Leu88Pro) single nucleotide variant Pathogenic rs137852531 GRCh37 Chromosome X, 77369387: 77369387
8 PGK1 NM_000291.3(PGK1): c.263T> C (p.Leu88Pro) single nucleotide variant Pathogenic rs137852531 GRCh38 Chromosome X, 78113890: 78113890
9 PGK1 NM_000291.3(PGK1): c.473G> T (p.Gly158Val) single nucleotide variant Pathogenic rs137852532 GRCh37 Chromosome X, 77372864: 77372864
10 PGK1 NM_000291.3(PGK1): c.473G> T (p.Gly158Val) single nucleotide variant Pathogenic rs137852532 GRCh38 Chromosome X, 78117367: 78117367
11 PGK1 NM_000291.3(PGK1): c.946T> C (p.Cys316Arg) single nucleotide variant Pathogenic rs137852533 GRCh37 Chromosome X, 77380380: 77380380
12 PGK1 NM_000291.3(PGK1): c.946T> C (p.Cys316Arg) single nucleotide variant Pathogenic rs137852533 GRCh38 Chromosome X, 78124883: 78124883
13 PGK1 NM_000291.3(PGK1): c.574_576del (p.Lys192del) deletion Pathogenic rs431905502 GRCh37 Chromosome X, 77373600: 77373602
14 PGK1 NM_000291.3(PGK1): c.574_576del (p.Lys192del) deletion Pathogenic rs431905502 GRCh38 Chromosome X, 78118103: 78118105
15 PGK1 NM_000291.3(PGK1): c.758T> C (p.Ile253Thr) single nucleotide variant Pathogenic rs137852534 GRCh37 Chromosome X, 77378693: 77378693
16 PGK1 NM_000291.3(PGK1): c.758T> C (p.Ile253Thr) single nucleotide variant Pathogenic rs137852534 GRCh38 Chromosome X, 78123196: 78123196
17 PGK1 NM_000291.3(PGK1): c.854A> T (p.Asp285Val) single nucleotide variant Pathogenic rs137852535 GRCh37 Chromosome X, 77378789: 77378789
18 PGK1 NM_000291.3(PGK1): c.854A> T (p.Asp285Val) single nucleotide variant Pathogenic rs137852535 GRCh38 Chromosome X, 78123292: 78123292
19 PGK1 NM_000291.3(PGK1): c.140T> A (p.Ile47Asn) single nucleotide variant Pathogenic rs137852536 GRCh37 Chromosome X, 77369264: 77369264
20 PGK1 NM_000291.3(PGK1): c.140T> A (p.Ile47Asn) single nucleotide variant Pathogenic rs137852536 GRCh38 Chromosome X, 78113767: 78113767
21 PGK1 NM_000291.3(PGK1): c.959G> A (p.Ser320Asn) single nucleotide variant Pathogenic rs137852537 GRCh37 Chromosome X, 77380393: 77380393
22 PGK1 NM_000291.3(PGK1): c.959G> A (p.Ser320Asn) single nucleotide variant Pathogenic rs137852537 GRCh38 Chromosome X, 78124896: 78124896
23 PGK1 NM_000291.3(PGK1): c.491A> T (p.Asp164Val) single nucleotide variant Pathogenic rs137852538 GRCh37 Chromosome X, 77372882: 77372882
24 PGK1 NM_000291.3(PGK1): c.491A> T (p.Asp164Val) single nucleotide variant Pathogenic rs137852538 GRCh38 Chromosome X, 78117385: 78117385
25 PGK1 NM_000291.3(PGK1): c.756+5G> A single nucleotide variant Pathogenic rs431905503 GRCh37 Chromosome X, 77378451: 77378451
26 PGK1 NM_000291.3(PGK1): c.756+5G> A single nucleotide variant Pathogenic rs431905503 GRCh38 Chromosome X, 78122954: 78122954
27 PGK1 NM_000291.3(PGK1): c.1132A> C (p.Thr378Pro) single nucleotide variant Pathogenic rs137852539 GRCh37 Chromosome X, 77380841: 77380841
28 PGK1 NM_000291.3(PGK1): c.1132A> C (p.Thr378Pro) single nucleotide variant Pathogenic rs137852539 GRCh38 Chromosome X, 78125344: 78125344
29 CYSLTR1; LPAR4; MIR4328; P2RY10; RTL3 NC_000023.11: g.78195010_79012636del817627 deletion Pathogenic GRCh37 Chromosome X, 77381971: 78268131
30 CYSLTR1; LPAR4; MIR4328; P2RY10; RTL3 NC_000023.11: g.78195010_79012636del817627 deletion Pathogenic GRCh38 Chromosome X, 78195010: 79012636
31 PGK1 NM_000291.3(PGK1): c.1234G> A (p.Asp412Asn) single nucleotide variant Uncertain significance rs782165735 GRCh37 Chromosome X, 77381307: 77381307
32 PGK1 NM_000291.3(PGK1): c.1234G> A (p.Asp412Asn) single nucleotide variant Uncertain significance rs782165735 GRCh38 Chromosome X, 78125810: 78125810
33 PGK1 NM_000291.3(PGK1): c.248T> C (p.Val83Ala) single nucleotide variant Uncertain significance rs138851144 GRCh37 Chromosome X, 77369372: 77369372
34 PGK1 NM_000291.3(PGK1): c.248T> C (p.Val83Ala) single nucleotide variant Uncertain significance rs138851144 GRCh38 Chromosome X, 78113875: 78113875

Expression for Phosphoglycerate Kinase 1 Deficiency

Search GEO for disease gene expression data for Phosphoglycerate Kinase 1 Deficiency.

Pathways for Phosphoglycerate Kinase 1 Deficiency

GO Terms for Phosphoglycerate Kinase 1 Deficiency

Sources for Phosphoglycerate Kinase 1 Deficiency

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75 UMLS via Orphanet
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