PGK1D
MCID: PHS014
MIFTS: 30

Phosphoglycerate Kinase 1 Deficiency (PGK1D) malady

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

Aliases & Classifications for Phosphoglycerate Kinase 1 Deficiency

Aliases & Descriptions for Phosphoglycerate Kinase 1 Deficiency:

Name: Phosphoglycerate Kinase 1 Deficiency 54 24 66 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 66
Pgk Deficiency 24
Pgk1d 66

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;

HPO:

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


Classifications:



External Ids:

OMIM 54 300653
Orphanet 56 ORPHA713
UMLS via Orphanet 70 C0684324
ICD10 via Orphanet 34 E74.0
MedGen 40 C1970848

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... (300653) more...

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, 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 : 66 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 by clinical synopsis from OMIM:

300653

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 seizures 32 HP:0001250
3 emotional lability 32 HP:0000712
4 intellectual disability 32 HP:0001249
5 global developmental delay 32 HP:0001263
6 delayed speech and language development 32 HP:0000750
7 renal insufficiency 32 HP:0000083
8 myopathy 32 HP:0003198
9 hemolytic anemia 32 HP:0001878
10 migraine 32 HP:0002076
11 visual loss 32 HP:0000572
12 reticulocytosis 32 HP:0001923
13 exercise intolerance 32 HP:0003546
14 retinal dystrophy 32 HP:0000556
15 rhabdomyolysis 32 HP:0003201
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
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:

66
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.1132A> C (p.Thr378Pro) single nucleotide variant Pathogenic rs137852539 GRCh38 Chromosome X, 78125344: 78125344
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.574_576delAAG (p.Lys192del) deletion Pathogenic rs431905502 GRCh37 Chromosome X, 77373600: 77373602
9 PGK1 NM_000291.3(PGK1): c.758T> C (p.Ile253Thr) single nucleotide variant Pathogenic rs137852534 GRCh37 Chromosome X, 77378693: 77378693
10 PGK1 NM_000291.3(PGK1): c.854A> T (p.Asp285Val) single nucleotide variant Pathogenic rs137852535 GRCh37 Chromosome X, 77378789: 77378789
11 PGK1 NM_000291.3(PGK1): c.140T> A (p.Ile47Asn) single nucleotide variant Pathogenic rs137852536 GRCh37 Chromosome X, 77369264: 77369264
12 PGK1 NM_000291.3(PGK1): c.959G> A (p.Ser320Asn) single nucleotide variant Pathogenic rs137852537 GRCh37 Chromosome X, 77380393: 77380393
13 PGK1 NM_000291.3(PGK1): c.491A> T (p.Asp164Val) single nucleotide variant Pathogenic rs137852538 GRCh37 Chromosome X, 77372882: 77372882
14 PGK1 NM_000291.3(PGK1): c.756+5G> A single nucleotide variant Pathogenic rs431905503 GRCh37 Chromosome X, 77378451: 77378451

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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