MCID: PHS014
MIFTS: 29

Phosphoglycerate Kinase 1 Deficiency

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

Aliases & Classifications for Phosphoglycerate Kinase 1 Deficiency

MalaCards integrated aliases for Phosphoglycerate Kinase 1 Deficiency:

Name: Phosphoglycerate Kinase 1 Deficiency 57 75 29 13 6 73
Pgk1 Deficiency 57 75
Glycogen Storage Disease Due to Phosphoglycerate Kinase 1 Deficiency 59
Glycogenosis Due to Phosphoglycerate Kinase 1 Deficiency 59
Gsd Due to Phosphoglycerate Kinase 1 Deficiency 59
Deficiency, Phosphoglycerate Kinase 1 40
Phosphoglycerate Kinase-1 13
Pgk1d 75

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
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:

32
phosphoglycerate kinase 1 deficiency:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Phosphoglycerate Kinase 1 Deficiency

OMIM : 57 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 ataxia and seizures. 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 emotional lability and intellectual disability

UniProtKB/Swiss-Prot : 75 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 11.8
2 breast cancer 9.9
3 prostate cancer 9.9
4 pancreatic cancer 9.9
5 prostatitis 9.9
6 pancreatitis 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Phosphoglycerate Kinase 1 Deficiency:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 emotional lability 32 HP:0000712
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 global developmental delay 32 very rare (1%) HP:0001263
6 delayed speech and language development 32 HP:0000750
7 renal insufficiency 32 occasional (7.5%) HP:0000083
8 myopathy 32 very rare (1%) HP:0003198
9 hemolytic anemia 32 very rare (1%) HP:0001878
10 migraine 32 HP:0002076
11 visual loss 32 occasional (7.5%) HP:0000572
12 reticulocytosis 32 HP:0001923
13 exercise intolerance 32 HP:0003546
14 retinal dystrophy 32 occasional (7.5%) HP:0000556
15 rhabdomyolysis 32 HP:0003201
16 exercise-induced myoglobinuria 32 HP:0008305
17 exercise-induced muscle cramps 32 HP:0003710

UMLS symptoms related to Phosphoglycerate Kinase 1 Deficiency:


ataxia, seizures

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 29 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
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses. ( 24838780 )
2014
2
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency. ( 23336698 )
2013

Variations for Phosphoglycerate Kinase 1 Deficiency

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

75
# 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 28)
# 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_576delAAG (p.Lys192del) deletion Pathogenic rs431905502 GRCh37 Chromosome X, 77373600: 77373602
14 PGK1 NM_000291.3(PGK1): c.574_576delAAG (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

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

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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