MCID: PHS009
MIFTS: 44

Phosphoglycerate Kinase Deficiency malady

Neuronal diseases, Metabolic diseases, Blood diseases categories

Summaries for Phosphoglycerate Kinase Deficiency

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.

MalaCards: Phosphoglycerate Kinase Deficiency, also known as phosphoglycerate kinase 1 deficiency, is related to deficiency anemia and hemolytic anemia. An important gene associated with Phosphoglycerate Kinase Deficiency is PGK1 (phosphoglycerate kinase 1), and among its related pathways are Carbon metabolism and Glycolysis and gluconeogenesis (short map). The compounds 3-phosphoglycerate and hpaii have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye.

Wikipedia:63 Phosphoglycerate kinase (EC 2.7.2.3) (PGK) is an enzyme that catalyzes the reversible transfer of a... more...

Description from OMIM:46 300653

Aliases & Classifications for Phosphoglycerate Kinase Deficiency

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
glycogen storage disease due to phosphoglycerate kinase 1 deficiency:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

phosphoglycerate kinase deficiency 42 22 21
phosphoglycerate kinase 1 deficiency 42 20 22 21 46 60
pgk deficiency 42 21 44
pgk1 deficiency 42 21
glycogen storage disease due to phosphoglycerate kinase 1 deficiency 48
glycogenosis due to phosphoglycerate kinase 1 deficiency 48
gsd due to phosphoglycerate kinase 1 deficiency 48
deficiency of phosphoglycerate kinase 60


External Ids:

OMIM46 300653
ICD10 via Orphanet26 D55.2
UMLS via Orphanet61 C0684324

Related Diseases for Phosphoglycerate Kinase Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Phosphoglycerate Kinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia30.8PGK1
2hemolytic anemia30.8PRKG1, PGK1
3myopathy30.4PFKM, PRKG1, PYGM
4leukocyte disease10.2
5neurologic diseases10.2
6myoglobinuria, acute recurrent, autosomal recessive10.2
7aplastic anemia10.0PGK1, PRKG1
8myoglobinuria recurrent10.0PYGM, PRKG1
9mental retardation10.0PRKG1, PGK1
10glycogen storage disease10.0PYGM, PFKM
11diabetes mellitus10.0PYGM, PFKM

Graphical network of diseases related to Phosphoglycerate Kinase Deficiency:



Diseases related to phosphoglycerate kinase deficiency

Clinical Features for Phosphoglycerate Kinase Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

300653

Clinical synopsis from OMIM:

300653

Drugs & Therapeutics for Phosphoglycerate Kinase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Phosphoglycerate Kinase Deficiency

Drug clinical trials:

Search ClinicalTrials for Phosphoglycerate Kinase Deficiency

Search NIH Clinical Center for Phosphoglycerate Kinase Deficiency

Search CenterWatch for Phosphoglycerate Kinase Deficiency

Genetic Tests for Phosphoglycerate Kinase Deficiency

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Phosphoglycerate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phosphoglycerate Kinase 1 Deficiency20 22 PGK1
2 Deficiency of Phosphoglycerate Kinase22

Anatomical Context for Phosphoglycerate Kinase Deficiency

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Sources:
32MalaCards
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MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

32
Skin, Brain, Eye, Heart

Animal Models for Phosphoglycerate Kinase Deficiency or affiliated genes

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Publications for Phosphoglycerate Kinase Deficiency

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Genetic Variations for Phosphoglycerate Kinase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Phosphoglycerate Kinase 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

Expression for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Phosphoglycerate Kinase Deficiency

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

Pathways for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources:
29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1PGK1, PFKM
2
Hide members
9.1PGK1, PFKM
3
Galactose metabolism
Hide members
9.0PYGM, PFKM
4
Hide members
8.5PGK1, PFKM, PYGM
5
Hide members
8.5PGK1, PFKM, PYGM

Compounds for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
13-phosphoglycerate449.7PRKG1, PGK1
2hpaii449.7PGK1, PRKG1
3thymine44 2410.6PGK1, PRKG1
4hypoxanthine44 11 2411.6PRKG1, PGK1
5glucose 6-phosphate44 2410.4PRKG1, PYGM
6polyacrylamide449.4PGK1, PRKG1
7glyceraldehyde 3-phosphate449.3PRKG1, PGK1
8phosphocreatine44 2410.2PFKM, PYGM
9guanine44 11 2411.1PGK1, PRKG1
10carnitine448.8PFKM, PRKG1, PYGM
11glycogen44 249.7PYGM, PRKG1, PFKM
12adp44 28 2410.7PRKG1, PFKM, PGK1
13Adenosine triphosphate11 249.6PGK1, PFKM, PRKG1
14pyruvate448.3PGK1, PFKM, PRKG1, PYGM
15lactate448.3PYGM, PRKG1, PFKM, PGK1
16atp44 289.3PGK1, PFKM, PRKG1, PYGM
17glucose448.2PYGM, PRKG1, PFKM, PGK1

GO Terms for genes affiliated with Phosphoglycerate Kinase Deficiency

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Sources:
16Gene Ontology
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Cellular components related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.0PGK1, PFKM, PRKG1, PYGM

Biological processes related to Phosphoglycerate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycolysisGO:0060969.1PGK1, PFKM
2glucose metabolic processGO:0060068.4PGK1, PFKM, PYGM
3carbohydrate metabolic processGO:0059758.2PGK1, PFKM, PYGM

Products for genes affiliated with Phosphoglycerate Kinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phosphoglycerate Kinase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet