MCID: PHS009
MIFTS: 29

Phosphoglycerate Kinase Deficiency malady

Category: Rare diseases

Aliases & Classifications for Phosphoglycerate Kinase Deficiency

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Aliases & Descriptions for Phosphoglycerate Kinase Deficiency:

Name: Phosphoglycerate Kinase Deficiency 45 23 24
Phosphoglycerate Kinase 1 Deficiency 45 23 65
Pgk Deficiency 45 23 47
 
Pgk1 Deficiency 45 23
Deficiency of Phosphoglycerate Kinase 65

Classifications:



External Ids:

UMLS65 C0684324, C1970848

Summaries for Phosphoglycerate Kinase Deficiency

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Genetics Home Reference:23 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 based summary: Phosphoglycerate Kinase Deficiency, also known as phosphoglycerate kinase 1 deficiency, is related to phosphoglycerate kinase 1 deficiency and glycogen storage disease due to phosphoglycerate kinase 1 deficiency. An important gene associated with Phosphoglycerate Kinase Deficiency is PRKG1 (Protein Kinase, CGMP-Dependent, Type I), and among its related pathways are Citrate cycle (TCA cycle) and Fructose and mannose metabolism. Affiliated tissues include skin, brain and heart.

Wikipedia:68 Phosphoglycerate kinase (EC 2.7.2.3) (PGK) is an enzyme that catalyzes the reversible transfer of a... more...

Related Diseases for Phosphoglycerate Kinase Deficiency

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Graphical network of the top 20 diseases related to Phosphoglycerate Kinase Deficiency:



Diseases related to phosphoglycerate kinase deficiency

Symptoms for Phosphoglycerate Kinase Deficiency

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Drugs & Therapeutics for Phosphoglycerate Kinase Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical Solutions7004

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 Deficiency

Genetic Tests for Phosphoglycerate Kinase Deficiency

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Anatomical Context for Phosphoglycerate Kinase Deficiency

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MalaCards organs/tissues related to Phosphoglycerate Kinase Deficiency:

33
Skin, Brain, Heart, Eye, Lung, Testes, Endothelial

Animal Models for Phosphoglycerate Kinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Phosphoglycerate Kinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Phosphoglycerate Kinase Deficiency

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Articles related to Phosphoglycerate Kinase Deficiency:

(show all 36)
idTitleAuthorsYear
1
AJKD Atlas of Renal Pathology: Light and Heavy ChainA Deposition Disease. (26802334)
2016
2
A simple, sensitive and non-destructive technique for characterizing bovine dental enamel erosion: attenuated total reflection Fourier transform infrared spectroscopy. (27025266)
2016
3
Frequency of histopathological changes in Howler monkeys ( Alouatta sp.) naturally infected with yellow fever virus in Brazil. (27163561)
2016
4
Juvenile granulosa cell tumor arising in ovarian adenosarcoma: an unusual form of sarcomatous overgrowth. (25656930)
2015
5
Decreased expression of ARID1A contributes to infiltrative growth of esophageal squamous cell carcinoma. (25757668)
2015
6
HMGB1 in the pathogenesis of ultraviolet-induced ocular surface inflammation. (26313914)
2015
7
Evaluation of IFN-I^ polymorphism in visceral leishmaniasis. (24728749)
2014
8
Binding and cleavage (BINACLE) assay for the functional in vitro detection of tetanus toxin: Applicability as alternative method for the safety testing of tetanus toxoids during vaccine production. (24156922)
2013
9
H1N1 influenza pandemic: What we did and what we learnt? (24339636)
2013
10
Immune mechanisms in type 1 diabetes. (24054837)
2013
11
Staphylococcus aureus leukotoxin ED targets the chemokine receptors CXCR1 and CXCR2 to kill leukocytes and promote infection. (24139401)
2013
12
Efficacy of the ketogenic diet in Lennox-Gastaut syndrome: a retrospective review of one institution's experience and summary of the literature. (22443637)
2012
13
Acute purulent erosive appendicitis diagnosed during colonoscopy. (22725128)
2012
14
Chronic ulcerative stomatitis: evidence of autoimmune pathogenesis. (21459019)
2011
15
Recurrent chordoma of the L2 vertebra: a case report. (20698468)
2010
16
XIAP-mediated protection of H460 lung cancer cells against cisplatin. (19903469)
2010
17
Ellipticine-induced apoptosis depends on Akt translocation and signaling in lung epithelial cancer cells. (18619705)
2009
18
Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult. (18478331)
2009
19
The importance of intra-amniotic inflammation in the subsequent development of atypical chronic lung disease. (19718578)
2009
20
Novel repeat polymorphisms of the dopaminergic neurotransmitter genes among dogs and wolves. (18049838)
2007
21
Lipoperoxidation and cyclooxygenases 1 and 2 inhibitory compounds from Iryanthera juruensis. (17335225)
2007
22
Novel role of toll-like receptor 3 in hepatitis C-associated glomerulonephritis. (16436653)
2006
23
Intramuscular interstitial cells of Cajal associated with mast cells survive nitrergic nerves in achalasia. (16771771)
2006
24
True hermaphroditism presenting in adulthood as a scrotal mass. (15992895)
2005
25
Second malignant neoplasms in childhood acute lymphoblastic leukemia: primitive neuroectodermal tumor of the chest wall with germline p53 mutation as a second malignant neoplasm. (15114597)
2004
26
No association between the -1031 polymorphism in the TNF-alpha promoter region and type 1 diabetes. (12770796)
2003
27
Hyperinsulinism reduction associated with icodextrin treatment in continuous ambulatory peritoneal dialysis patients. (11510303)
2001
28
Structural requirements of a human deoxyribonuclease II for the development of the active enzyme form, revealed by site-directed mutagenesis. (10080942)
1999
29
Crystal structure of the FMN-binding domain of human cytochrome P450 reductase at 1.93 A resolution. (10048323)
1999
30
Renal transplantation in patients with microscopic polyarteritis and antimyeloperoxidase antibodies: report of three cases. (8903866)
1996
31
Intravascular papillary endothelial hyperplasia in a thrombosed renal allograft vein. (8816898)
1996
32
Individual differences between nuclear parameters of normal and malignant breast epithelium. (7826982)
1994
33
Charcot-Leyden crystal protein in the degranulation and recovery of activated basophils. (1373430)
1992
34
Pseudogout associated with meniscal cysts - report of two patients. (571019)
1978
35
Glomangioma (glomus tumor). A clinicopathologic study with special reference to multiple lesions appearing during pregnancy. (4284789)
1965
36
Acute porphyria, with report of two cases. (15396200)
1949

Variations for Phosphoglycerate Kinase Deficiency

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Expression for genes affiliated with Phosphoglycerate Kinase Deficiency

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

Pathways for genes affiliated with Phosphoglycerate Kinase Deficiency

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Pathways related to Phosphoglycerate Kinase Deficiency according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3PFKM, PGK1
2
Show member pathways
9.1PFKM, TPI1
3
Show member pathways
8.5PFKM, PGK1, TPI1
4
Show member pathways
8.5PFKM, PGK1, TPI1
5
Show member pathways
8.5PFKM, PGK1, TPI1

GO Terms for genes affiliated with Phosphoglycerate Kinase Deficiency

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Biological processes related to Phosphoglycerate Kinase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glucose metabolic processGO:00060069.0PGK1, TPI1
2carbohydrate metabolic processGO:00059758.8PFKM, PGK1, TPI1
3small molecule metabolic processGO:00442818.2PFKM, PGK1, TPI1

Sources for Phosphoglycerate Kinase 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