MCID: PHS014
MIFTS: 23

Phosphoglycerate Kinase 1 Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Phosphoglycerate Kinase 1 Deficiency

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Phosphoglycerate Kinase 1 Deficiency, Aliases & Descriptions:

Name: Phosphoglycerate Kinase 1 Deficiency 45 10 60
 
Phosphoglycerate Kinase-1 10 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 300653

Summaries for Phosphoglycerate Kinase 1 Deficiency

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OMIM:45 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 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).

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 deficiency10.8
2prostate cancer10.2
3pancreatic cancer10.2
4pancreatitis10.2
5prostatitis10.2

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 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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Drug clinical trials:

Search ClinicalTrials for Phosphoglycerate Kinase 1 Deficiency

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 Deficiency20 22 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
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:

62
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:

6 (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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Compounds 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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Products for genes affiliated with Phosphoglycerate Kinase 1 Deficiency

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  • Antibodies
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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Phosphoglycerate Kinase 1 Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet