MCID: PHS014
MIFTS: 32

Phosphoglycerate Kinase 1 Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Phosphoglycerate Kinase 1 Deficiency

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Aliases & Descriptions for Phosphoglycerate Kinase 1 Deficiency:

Name: Phosphoglycerate Kinase 1 Deficiency 49 11 65 67
Phosphoglycerate Kinase-1 11 22 24
Pgk1 Deficiency 67
 
Pgk Deficiency 22
Pgk1d 67


Classifications:



External Ids:

OMIM49 300653
MedGen34 C1970848

Summaries for Phosphoglycerate Kinase 1 Deficiency

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OMIM:49 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 phosphoglycerate kinase-1, is related to glycogen storage disease due to phosphoglycerate kinase 1 deficiency and phosphoglycerate kinase deficiency, 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:67 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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Graphical network of the top 20 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 19)
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 x-linked recessive inheritance HP:0001419
13 reticulocytosis HP:0001923
14 migraine HP:0002076
15 rhabdomyolysis HP:0003201
16 exercise intolerance HP:0003546
17 exercise-induced muscle cramps HP:0003710
18 phenotypic variability HP:0003812
19 exercise-induced myoglobinuria HP:0008305

Drugs & Therapeutics for Phosphoglycerate Kinase 1 Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Unrelated Donor BMT for Treatment of Patients With PGK DeficiencyActive, not recruitingNCT00592540
2Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyNot yet recruitingNCT02635269

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 Deficiency22 24 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:

67
id Symbol AA change Variation ID SNP ID
1PGK1p.Leu88ProVAR_006076
2PGK1p.Gly158ValVAR_006077
3PGK1p.Asp164ValVAR_006078
4PGK1p.Arg206ProVAR_006080
5PGK1p.Glu252AlaVAR_006081
6PGK1p.Val266MetVAR_006082
7PGK1p.Asp285ValVAR_006084
8PGK1p.Asp315AsnVAR_006085
9PGK1p.Cys316ArgVAR_006086

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet