MCID: PHS014
MIFTS: 28

Phosphoglycerate Kinase 1 Deficiency malady

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

Aliases & Classifications for Phosphoglycerate Kinase 1 Deficiency

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Sources:
50OMIM, 23GeneTests, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 52Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Phosphoglycerate Kinase 1 Deficiency:

Name: Phosphoglycerate Kinase 1 Deficiency 50 23 68 25 12 66
Glycogen Storage Disease Due to Phosphoglycerate Kinase 1 Deficiency 52
Glycogenosis Due to Phosphoglycerate Kinase 1 Deficiency 52
Gsd Due to Phosphoglycerate Kinase 1 Deficiency 52
Deficiency of Phosphoglycerate Kinase 66
 
Phosphoglycerate Kinase-1 12
Pgk1 Deficiency 68
Pgk Deficiency 23
Pgk1d 68

Characteristics:

Orphanet epidemiological data:

52
glycogen storage disease due to phosphoglycerate kinase 1 deficiency:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

62
phosphoglycerate kinase 1 deficiency:
Inheritance: x-linked recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 300653
Orphanet52 ORPHA713
ICD10 via Orphanet29 E74.0
UMLS via Orphanet67 C0684324
MedGen35 C1970848

Summaries for Phosphoglycerate Kinase 1 Deficiency

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OMIM:50 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 hemolytic anemia, global developmental delay and myopathy. An important gene associated with Phosphoglycerate Kinase 1 Deficiency is PGK1 (Phosphoglycerate Kinase 1).

UniProtKB/Swiss-Prot:68 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

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Diseases related to Phosphoglycerate Kinase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1phosphoglycerate kinase deficiency11.5
2prostate cancer10.0
3breast cancer10.0
4pancreatic cancer10.0
5prostatitis10.0
6pancreatitis10.0

Graphical network of diseases related to Phosphoglycerate Kinase 1 Deficiency:



Diseases related to phosphoglycerate kinase 1 deficiency

Symptoms for Phosphoglycerate Kinase 1 Deficiency

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Symptoms by clinical synopsis from OMIM:

300653

Clinical features from OMIM:

300653

HPO human phenotypes related to Phosphoglycerate Kinase 1 Deficiency:

(show all 17)
id Description Frequency HPO Source Accession
1 hemolytic anemia 60% HP:0001878
2 global developmental delay typical (50%) HP:0001263
3 myopathy 45% HP:0003198
4 renal insufficiency HP:0000083
5 retinal dystrophy HP:0000556
6 visual loss HP:0000572
7 emotional lability HP:0000712
8 delayed speech and language development HP:0000750
9 intellectual disability HP:0001249
10 seizures HP:0001250
11 ataxia HP:0001251
12 reticulocytosis HP:0001923
13 migraine HP:0002076
14 rhabdomyolysis HP:0003201
15 exercise intolerance HP:0003546
16 exercise-induced muscle cramps HP:0003710
17 exercise-induced myoglobinuria HP:0008305

UMLS symptoms related to Phosphoglycerate Kinase 1 Deficiency:


ataxia, seizures

Drugs & Therapeutics for Phosphoglycerate Kinase 1 Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
2Unrelated Donor BMT for Treatment of Patients With PGK DeficiencyActive, not recruitingNCT00592540

Search NIH Clinical Center for Phosphoglycerate Kinase 1 Deficiency

Genetic Tests for Phosphoglycerate Kinase 1 Deficiency

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Genetic tests related to Phosphoglycerate Kinase 1 Deficiency:

id Genetic test Affiliating Genes
1 Phosphoglycerate Kinase 1 Deficiency25 23 PGK1

Anatomical Context for Phosphoglycerate Kinase 1 Deficiency

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Animal Models for Phosphoglycerate Kinase 1 Deficiency or affiliated genes

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Publications for Phosphoglycerate Kinase 1 Deficiency

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Articles related to Phosphoglycerate Kinase 1 Deficiency:

idTitleAuthorsYear
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

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

68
id Symbol AA change Variation ID SNP ID
1PGK1p.Leu88ProVAR_006076rs137852531
2PGK1p.Gly158ValVAR_006077rs137852532
3PGK1p.Asp164ValVAR_006078rs137852538
4PGK1p.Arg206ProVAR_006080rs137852529
5PGK1p.Glu252AlaVAR_006081
6PGK1p.Val266MetVAR_006082rs431905501
7PGK1p.Asp285ValVAR_006084rs137852535
8PGK1p.Asp315AsnVAR_006085
9PGK1p.Cys316ArgVAR_006086rs137852533

Clinvar genetic disease variations for Phosphoglycerate Kinase 1 Deficiency:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1PGK1NM_000291.3(PGK1): c.802G> A (p.Asp268Asn)single nucleotide variantPathogenicrs137852528GRCh37Chr X, 77378737: 77378737
2PGK1NM_000291.3(PGK1): c.617G> C (p.Arg206Pro)single nucleotide variantPathogenicrs137852529GRCh37Chr X, 77373643: 77373643
3PGK1NM_000291.3(PGK1): c.796_798delGTCinsATG (p.Val266Met)indelPathogenicrs431905501GRCh37Chr X, 77378731: 77378733
4PGK1NM_000291.3(PGK1): c.263T> C (p.Leu88Pro)single nucleotide variantPathogenicrs137852531GRCh37Chr X, 77369387: 77369387
5PGK1NM_000291.3(PGK1): c.473G> T (p.Gly158Val)single nucleotide variantPathogenicrs137852532GRCh37Chr X, 77372864: 77372864
6PGK1NM_000291.3(PGK1): c.946T> C (p.Cys316Arg)single nucleotide variantPathogenicrs137852533GRCh37Chr X, 77380380: 77380380
7PGK1NM_000291.3(PGK1): c.574_576delAAG (p.Lys192del)deletionPathogenicrs431905502GRCh37Chr X, 77373600: 77373602
8PGK1NM_000291.3(PGK1): c.758T> C (p.Ile253Thr)single nucleotide variantPathogenicrs137852534GRCh37Chr X, 77378693: 77378693
9PGK1NM_000291.3(PGK1): c.854A> T (p.Asp285Val)single nucleotide variantPathogenicrs137852535GRCh37Chr X, 77378789: 77378789
10PGK1NM_000291.3(PGK1): c.140T> A (p.Ile47Asn)single nucleotide variantPathogenicrs137852536GRCh37Chr X, 77369264: 77369264
11PGK1NM_000291.3(PGK1): c.959G> A (p.Ser320Asn)single nucleotide variantPathogenicrs137852537GRCh37Chr X, 77380393: 77380393
12PGK1NM_000291.3(PGK1): c.491A> T (p.Asp164Val)single nucleotide variantPathogenicrs137852538GRCh37Chr X, 77372882: 77372882
13PGK1NM_000291.3(PGK1): c.756+5G> Asingle nucleotide variantPathogenicrs431905503GRCh37Chr X, 77378451: 77378451
14PGK1NM_000291.3(PGK1): c.1132A> C (p.Thr378Pro)single nucleotide variantPathogenicrs137852539GRCh37Chr X, 77380841: 77380841

Expression for genes affiliated with Phosphoglycerate Kinase 1 Deficiency

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Search GEO for disease gene expression data for Phosphoglycerate Kinase 1 Deficiency.

Pathways for genes affiliated with Phosphoglycerate Kinase 1 Deficiency

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GO Terms for genes affiliated with Phosphoglycerate Kinase 1 Deficiency

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Sources for Phosphoglycerate Kinase 1 Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet