MCID: PHS014
MIFTS: 31

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 54 24 71 29 13 69
Glycogen Storage Disease Due to Phosphoglycerate Kinase 1 Deficiency 56
Glycogenosis Due to Phosphoglycerate Kinase 1 Deficiency 56
Gsd Due to Phosphoglycerate Kinase 1 Deficiency 56
Deficiency of Phosphoglycerate Kinase 69
Phosphoglycerate Kinase-1 13
Pgk1 Deficiency 71
Pgk Deficiency 24
Pgk1d 71

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

54
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 : 54
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 glycogen storage disease due to phosphoglycerate kinase 1 deficiency, is related to phosphoglycerate kinase deficiency and prostate cancer, and has symptoms including ataxia, reticulocytosis and migraine. 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.

UniProtKB/Swiss-Prot : 71 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:

id Related Disease Score Top Affiliating Genes
1 phosphoglycerate kinase deficiency 11.3
2 prostate cancer 9.8
3 breast cancer 9.8
4 pancreatic cancer 9.8
5 prostatitis 9.8
6 pancreatitis 9.8

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:

54

Neurologic- Central Nervous System:
mental retardation
speech delay
ataxia
developmental delay
seizures
more
Muscle Soft Tissue:
exercise intolerance
rhabdomyolysis
myopathy in approximately 45% of patients
muscle cramps with exercise

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

Hematology:
hemolytic anemia in approximately 60% of patients

Laboratory- Abnormalities:
increased serum bilirubin
decreased hemoglobin
increased reticulocyte count
myoglobinuria after exertion
decreased activity of phosphoglycerate kinase 1

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

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):


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

Interventional clinical trials:


id 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 1 Deficiency

Genetic Tests for Phosphoglycerate Kinase 1 Deficiency

Genetic tests related to Phosphoglycerate Kinase 1 Deficiency:

id Genetic test Affiliating Genes
1 Phosphoglycerate Kinase 1 Deficiency 29 24 PGK1

Anatomical Context for Phosphoglycerate Kinase 1 Deficiency

Publications for Phosphoglycerate Kinase 1 Deficiency

Articles related to Phosphoglycerate Kinase 1 Deficiency:

id 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:

71
id 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 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 PGK1 NM_000291.3(PGK1): c.574_576delAAG (p.Lys192del) deletion Pathogenic rs431905502 GRCh38 Chromosome X, 78118103: 78118105
2 PGK1 NM_000291.3(PGK1): c.802G> A (p.Asp268Asn) single nucleotide variant Pathogenic rs137852528 GRCh37 Chromosome X, 77378737: 77378737
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.796_798delGTCinsATG (p.Val266Met) indel Pathogenic rs431905501 GRCh37 Chromosome X, 77378731: 77378733
5 PGK1 NM_000291.3(PGK1): c.263T> C (p.Leu88Pro) single nucleotide variant Pathogenic rs137852531 GRCh37 Chromosome X, 77369387: 77369387
6 PGK1 NM_000291.3(PGK1): c.473G> T (p.Gly158Val) single nucleotide variant Pathogenic rs137852532 GRCh37 Chromosome X, 77372864: 77372864
7 PGK1 NM_000291.3(PGK1): c.946T> C (p.Cys316Arg) single nucleotide variant Pathogenic rs137852533 GRCh37 Chromosome X, 77380380: 77380380
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 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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