PGK1D
MCID: PHS014
MIFTS: 30

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:
Onset and clinical course phenotypic variability
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. Related phenotypes are renal insufficiency and visual loss

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:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 33 occasional (7.5%) HP:0000083
2 visual loss 33 occasional (7.5%) HP:0000572
3 retinal dystrophy 33 occasional (7.5%) HP:0000556
4 global developmental delay 33 very rare (1%) HP:0001263
5 myopathy 33 very rare (1%) HP:0003198
6 hemolytic anemia 33 very rare (1%) HP:0001878
7 emotional lability 33 HP:0000712
8 intellectual disability 33 HP:0001249
9 seizures 33 HP:0001250
10 ataxia 33 HP:0001251
11 delayed speech and language development 33 HP:0000750
12 migraine 33 HP:0002076
13 reticulocytosis 33 HP:0001923
14 exercise intolerance 33 HP:0003546
15 rhabdomyolysis 33 HP:0003201
16 exercise-induced myoglobinuria 33 HP:0008305
17 exercise-induced muscle cramps 33 HP:0003710

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

Publications for Phosphoglycerate Kinase 1 Deficiency

Articles related to Phosphoglycerate Kinase 1 Deficiency:

# Title Authors Year
1
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency. ( 30570712 )
2019
2
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
3
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses. ( 24838780 )
2014
4
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency. ( 23336698 )
2013
5
Protein Stability, Folding and Misfolding in Human PGK1 Deficiency. ( 24970202 )
2013

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 32)
# 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 GRCh38 Chromosome X, 78195010: 79012636
30 CYSLTR1; LPAR4; MIR4328; P2RY10; RTL3 NC_000023.11: g.78195010_79012636del817627 deletion Pathogenic GRCh37 Chromosome X, 77381971: 78268131
31 PGK1 NM_000291.3(PGK1): c.248T> C (p.Val83Ala) single nucleotide variant Uncertain significance rs138851144 GRCh37 Chromosome X, 77369372: 77369372
32 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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10 dbSNP
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
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75 UMLS via Orphanet
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