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 53 71 28 13 69
Pgk1 Deficiency 53 71
Glycogen Storage Disease Due to Phosphoglycerate Kinase 1 Deficiency 55
Glycogenosis Due to Phosphoglycerate Kinase 1 Deficiency 55
Gsd Due to Phosphoglycerate Kinase 1 Deficiency 55
Phosphoglycerate Kinase-1 13
Pgk1d 71

Characteristics:

Orphanet epidemiological data:

55
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

53
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:

31
phosphoglycerate kinase 1 deficiency:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Phosphoglycerate Kinase 1 Deficiency

OMIM : 53 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 pancreatic cancer, and has symptoms including ataxia, seizures and emotional lability. 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:

# Related Disease Score Top Affiliating Genes
1 phosphoglycerate kinase deficiency 11.5
2 pancreatic cancer 9.9
3 prostatitis 9.9
4 pancreatitis 9.9

Symptoms & Phenotypes for Phosphoglycerate Kinase 1 Deficiency

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 seizures 31 HP:0001250
3 emotional lability 31 HP:0000712
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 very rare (1%) HP:0001263
6 delayed speech and language development 31 HP:0000750
7 renal insufficiency 31 occasional (7.5%) HP:0000083
8 myopathy 31 very rare (1%) HP:0003198
9 hemolytic anemia 31 very rare (1%) HP:0001878
10 migraine 31 HP:0002076
11 visual loss 31 occasional (7.5%) HP:0000572
12 reticulocytosis 31 HP:0001923
13 exercise intolerance 31 HP:0003546
14 retinal dystrophy 31 occasional (7.5%) HP:0000556
15 rhabdomyolysis 31 HP:0003201
16 exercise-induced myoglobinuria 31 HP:0008305
17 exercise-induced muscle cramps 31 HP:0003710

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

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Phosphoglycerate Kinase 1 Deficiency 28 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:

71
# 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)
# 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.617G> C (p.Arg206Pro) single nucleotide variant Pathogenic rs137852529 GRCh37 Chromosome X, 77373643: 77373643
3 PGK1 NM_000291.3(PGK1): c.796_798delGTCinsATG (p.Val266Met) indel Pathogenic rs431905501 GRCh37 Chromosome X, 77378731: 77378733
4 PGK1 NM_000291.3(PGK1): c.263T> C (p.Leu88Pro) single nucleotide variant Pathogenic rs137852531 GRCh37 Chromosome X, 77369387: 77369387
5 PGK1 NM_000291.3(PGK1): c.473G> T (p.Gly158Val) single nucleotide variant Pathogenic rs137852532 GRCh37 Chromosome X, 77372864: 77372864
6 PGK1 NM_000291.3(PGK1): c.946T> C (p.Cys316Arg) single nucleotide variant Pathogenic rs137852533 GRCh37 Chromosome X, 77380380: 77380380
7 PGK1 NM_000291.3(PGK1): c.574_576delAAG (p.Lys192del) deletion Pathogenic rs431905502 GRCh37 Chromosome X, 77373600: 77373602
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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