MCID: PHS014
MIFTS: 30

Phosphoglycerate Kinase 1 Deficiency malady

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

Aliases & Classifications for Phosphoglycerate Kinase 1 Deficiency

About this section
Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Phosphoglycerate Kinase 1 Deficiency:

Name: Phosphoglycerate Kinase 1 Deficiency 52 24 70 27 12 68
Glycogen Storage Disease Due to Phosphoglycerate Kinase 1 Deficiency 54
Glycogenosis Due to Phosphoglycerate Kinase 1 Deficiency 54
Gsd Due to Phosphoglycerate Kinase 1 Deficiency 54
Deficiency of Phosphoglycerate Kinase 68
 
Phosphoglycerate Kinase-1 12
Pgk1 Deficiency 70
Pgk Deficiency 24
Pgk1d 70

Characteristics:

Orphanet epidemiological data:

54
glycogen storage disease due to phosphoglycerate kinase 1 deficiency:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

64
phosphoglycerate kinase 1 deficiency:
Inheritance: x-linked recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 300653
Orphanet54 ORPHA713
UMLS via Orphanet69 C0684324
ICD10 via Orphanet31 E74.0
MedGen37 C1970848

Summaries for Phosphoglycerate Kinase 1 Deficiency

About this section
OMIM:52 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:70 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1phosphoglycerate kinase deficiency11.3
2prostate cancer9.9
3breast cancer9.9
4pancreatic cancer9.9
5prostatitis9.9
6pancreatitis9.9

Graphical network of diseases related to Phosphoglycerate Kinase 1 Deficiency:



Diseases related to phosphoglycerate kinase 1 deficiency

Symptoms & Phenotypes for Phosphoglycerate Kinase 1 Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

300653

Clinical features from OMIM:

300653

Human phenotypes related to Phosphoglycerate Kinase 1 Deficiency:

 64 (show all 17)
id Description HPO Frequency HPO Source Accession
1 hemolytic anemia64 60% HP:0001878
2 global developmental delay64 typical (50%) HP:0001263
3 myopathy64 45% HP:0003198
4 renal insufficiency64 HP:0000083
5 retinal dystrophy64 HP:0000556
6 visual loss64 HP:0000572
7 emotional lability64 HP:0000712
8 delayed speech and language development64 HP:0000750
9 intellectual disability64 HP:0001249
10 seizures64 HP:0001250
11 ataxia64 HP:0001251
12 reticulocytosis64 HP:0001923
13 migraine64 HP:0002076
14 rhabdomyolysis64 HP:0003201
15 exercise intolerance64 HP:0003546
16 exercise-induced muscle cramps64 HP:0003710
17 exercise-induced myoglobinuria64 HP:0008305

UMLS symptoms related to Phosphoglycerate Kinase 1 Deficiency:


ataxia, seizures

Drugs & Therapeutics for Phosphoglycerate Kinase 1 Deficiency

About this section

Drugs for Phosphoglycerate Kinase 1 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical Solutions7793

Interventional clinical trials:

idNameStatusNCT IDPhase
1Unrelated Donor BMT for Treatment of Patients With PGK DeficiencyCompletedNCT00592540
2Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

Search NIH Clinical Center for Phosphoglycerate Kinase 1 Deficiency

Genetic Tests for Phosphoglycerate Kinase 1 Deficiency

About this section

Genetic tests related to Phosphoglycerate Kinase 1 Deficiency:

id Genetic test Affiliating Genes
1 Phosphoglycerate Kinase 1 Deficiency27 24 PGK1

Anatomical Context for Phosphoglycerate Kinase 1 Deficiency

About this section

Publications for Phosphoglycerate Kinase 1 Deficiency

About this section

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

About this section

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

70
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)SNVPathogenicrs137852528GRCh37Chr X, 77378737: 77378737
2PGK1NM_000291.3(PGK1): c.617G> C (p.Arg206Pro)SNVPathogenicrs137852529GRCh37Chr 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)SNVPathogenicrs137852531GRCh37Chr X, 77369387: 77369387
5PGK1NM_000291.3(PGK1): c.473G> T (p.Gly158Val)SNVPathogenicrs137852532GRCh37Chr X, 77372864: 77372864
6PGK1NM_000291.3(PGK1): c.946T> C (p.Cys316Arg)SNVPathogenicrs137852533GRCh37Chr 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)SNVPathogenicrs137852534GRCh37Chr X, 77378693: 77378693
9PGK1NM_000291.3(PGK1): c.854A> T (p.Asp285Val)SNVPathogenicrs137852535GRCh37Chr X, 77378789: 77378789
10PGK1NM_000291.3(PGK1): c.140T> A (p.Ile47Asn)SNVPathogenicrs137852536GRCh37Chr X, 77369264: 77369264
11PGK1NM_000291.3(PGK1): c.959G> A (p.Ser320Asn)SNVPathogenicrs137852537GRCh37Chr X, 77380393: 77380393
12PGK1NM_000291.3(PGK1): c.491A> T (p.Asp164Val)SNVPathogenicrs137852538GRCh37Chr X, 77372882: 77372882
13PGK1NM_000291.3(PGK1): c.756+5G> ASNVPathogenicrs431905503GRCh37Chr X, 77378451: 77378451
14PGK1NM_000291.3(PGK1): c.1132A> C (p.Thr378Pro)SNVPathogenicrs137852539GRCh38Chr X, 78125344: 78125344

Expression for genes affiliated with Phosphoglycerate Kinase 1 Deficiency

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

Pathways for genes affiliated with Phosphoglycerate Kinase 1 Deficiency

About this section

GO Terms for genes affiliated with Phosphoglycerate Kinase 1 Deficiency

About this section

Sources for Phosphoglycerate Kinase 1 Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet