Aliases & Classifications for Glutathione Peroxidase Deficiency

MalaCards integrated aliases for Glutathione Peroxidase Deficiency:

Name: Glutathione Peroxidase Deficiency 57 29 40
Hemolytic Anemia Due to Glutathione Peroxidase Deficiency 57 13
Gluthathione Peroxidase Deficiency 73
Gpxd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glutathione peroxidase deficiency:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 614164
MedGen 42 C0398747
SNOMED-CT via HPO 69 258211005 281610001
UMLS 73 C0398747

Summaries for Glutathione Peroxidase Deficiency

OMIM : 57 Several documented cases of glutathione peroxidase (GPX1; 138320) deficiency in association with hemolytic anemia have been reported. However, Paglia (1989) stated: 'To date, no defects in glutathione peroxidase have been unequivocally incriminated in the pathogenesis of hemolytic syndromes, although several instances of partial deficiency have been reported in patients with anemias of unknown etiology. This association may be coincidental, since there is a broad range of ethnic variation in the erythrocyte enzyme' (Beutler and Matsumoto, 1975). (614164)

MalaCards based summary : Glutathione Peroxidase Deficiency, also known as hemolytic anemia due to glutathione peroxidase deficiency, is related to heinz body anemias and alpha-thalassemia/mental retardation syndrome, chromosome 16-related. An important gene associated with Glutathione Peroxidase Deficiency is GPX1 (Glutathione Peroxidase 1), and among its related pathways/superpathways are Folate Metabolism and Linoleic acid metabolism. Affiliated tissues include endothelial and t cells, and related phenotypes are neonatal hyperbilirubinemia and compensated hemolytic anemia

Wikipedia : 76 Glutathione peroxidase (GPx) (EC 1.11.1.9) is the general name of an enzyme family with peroxidase... more...

Related Diseases for Glutathione Peroxidase Deficiency

Graphical network of the top 20 diseases related to Glutathione Peroxidase Deficiency:



Diseases related to Glutathione Peroxidase Deficiency

Symptoms & Phenotypes for Glutathione Peroxidase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Heme:
hemolytic disease of the newborn
compensated hemolytic anemia

Lab:
glutathione peroxidase deficiency
heinz bodies

Skin:
neonatal hyperbilirubinemia

Misc:
selenium deficiency interaction


Clinical features from OMIM:

614164

Human phenotypes related to Glutathione Peroxidase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 neonatal hyperbilirubinemia 32 HP:0003265
2 compensated hemolytic anemia 32 HP:0004863

GenomeRNAi Phenotypes related to Glutathione Peroxidase Deficiency according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.72 GPX1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 GPX1 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.72 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.72 GPX1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.72 GPX1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.72 GPX1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.72 HBA1 HBA2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.72 GPX1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.72 GPX1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.72 GPX1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.72 HBA1 HBA2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.72 GPX1

Drugs & Therapeutics for Glutathione Peroxidase Deficiency

Search Clinical Trials , NIH Clinical Center for Glutathione Peroxidase Deficiency

Genetic Tests for Glutathione Peroxidase Deficiency

Genetic tests related to Glutathione Peroxidase Deficiency:

# Genetic test Affiliating Genes
1 Glutathione Peroxidase Deficiency 29 GPX1

Anatomical Context for Glutathione Peroxidase Deficiency

MalaCards organs/tissues related to Glutathione Peroxidase Deficiency:

41
Endothelial, T Cells

Publications for Glutathione Peroxidase Deficiency

Articles related to Glutathione Peroxidase Deficiency:

(show all 21)
# Title Authors Year
1
Glutathione peroxidase deficiency exacerbates ischemia-reperfusion injury in male but not female myocardium: insights into antioxidant compensatory mechanisms. ( 19801492 )
2009
2
Mimicking of glutathione peroxidase deficiency by exposition of JAR cells to increased level of synthetic hydroperoxide. ( 16425157 )
2005
3
Cellular glutathione peroxidase deficiency and endothelial dysfunction. ( 11893559 )
2002
4
Reactive oxygen as modulator of TNF and fas receptor-mediated apoptosis in vivo: studies with glutathione peroxidase-deficient mice. ( 12470500 )
2002
5
Heterozygous cellular glutathione peroxidase deficiency in the mouse: abnormalities in vascular and cardiac function and structure. ( 12196344 )
2002
6
Plasma glutathione peroxidase deficiency and platelet insensitivity to nitric oxide in children with familial stroke. ( 10446087 )
1999
7
Plasma glutathione peroxidase deficiency caused by renal dysfunction. ( 8773346 )
1996
8
Lipid hydroperoxides induce apoptosis in T cells displaying a HIV-associated glutathione peroxidase deficiency. ( 8288627 )
1994
9
Chronic granulomatous disease and glutathione peroxidase deficiency, revisited. ( 7949143 )
1994
10
Acute hemolysis in glutathione peroxidase deficiency. ( 1498313 )
1992
11
Glutathione peroxidase deficiency and childhood seizures. ( 1679502 )
1991
12
Glutathione peroxidase deficiency and childhood seizures. ( 1675321 )
1991
13
Glutathione peroxidase deficiency in multiple sclerosis. ( 7102265 )
1982
14
Malignant hyperthermia (MH): porcine erythrocyte damage from oxidation and glutathione peroxidase deficiency. ( 7291194 )
1981
15
Treatment of glutathione peroxidase deficiency with vitamin E. ( 7375069 )
1980
16
Neonatal erythrocyte glutathione peroxidase deficiency as a consequence of selenium imbalance during pregnancy. ( 476008 )
1979
17
Polymorphonuclear leukocyte bactericidal activity and oxidative metabolism during glutathione peroxidase deficiency. ( 198376 )
1977
18
Leukocyte glutathione peroxidase deficiency in a male patient with chronic granulomatous disease. ( 1255315 )
1976
19
[March hemoglobinuria. One case with erythrocyte glutathione peroxidase deficiency]. ( 1134932 )
1975
20
Heterozygous erythrocyte glutathione peroxidase deficiency associated with neonatal hyperbilirubinemia found in a Japanese family. ( 4479916 )
1974
21
Glutathione peroxidase deficiency with increased susceptibility to erythrocyte Heinz body formation. ( 4448045 )
1974

Variations for Glutathione Peroxidase Deficiency

Expression for Glutathione Peroxidase Deficiency

Search GEO for disease gene expression data for Glutathione Peroxidase Deficiency.

Pathways for Glutathione Peroxidase Deficiency

GO Terms for Glutathione Peroxidase Deficiency

Cellular components related to Glutathione Peroxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 GPX1 GPX3 HBA1 HBA2 HBB
2 extracellular space GO:0005615 9.72 GPX3 HBA1 HBA2 HBB SELP
3 blood microparticle GO:0072562 9.43 HBA1 HBA2 HBB
4 cytosolic small ribosomal subunit GO:0022627 9.37 HBA1 HBA2
5 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
6 hemoglobin complex GO:0005833 9.13 HBA1 HBA2 HBB
7 haptoglobin-hemoglobin complex GO:0031838 8.8 HBA1 HBA2 HBB

Biological processes related to Glutathione Peroxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.61 HBA1 HBA2 HBB
2 protein heterooligomerization GO:0051291 9.58 HBA1 HBA2 HBB
3 positive regulation of cell death GO:0010942 9.54 HBA1 HBA2 HBB
4 bicarbonate transport GO:0015701 9.5 HBA1 HBA2 HBB
5 response to oxidative stress GO:0006979 9.48 GPX1 GPX3
6 cellular response to oxidative stress GO:0034599 9.46 GPX1 GPX3
7 response to hydrogen peroxide GO:0042542 9.46 GPX1 HBA1 HBA2 HBB
8 oxygen transport GO:0015671 9.43 HBA1 HBA2 HBB
9 cellular oxidant detoxification GO:0098869 9.35 GPX1 GPX3 HBA1 HBA2 HBB
10 hydrogen peroxide catabolic process GO:0042744 9.02 GPX1 GPX3 HBA1 HBA2 HBB

Molecular functions related to Glutathione Peroxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.54 HBA1 HBA2 HBB
2 heme binding GO:0020037 9.5 HBA1 HBA2 HBB
3 oxygen binding GO:0019825 9.43 HBA1 HBA2 HBB
4 glutathione peroxidase activity GO:0004602 9.4 GPX1 GPX3
5 oxygen carrier activity GO:0005344 9.33 HBA1 HBA2 HBB
6 haptoglobin binding GO:0031720 9.13 HBA1 HBA2 HBB
7 peroxidase activity GO:0004601 8.92 GPX1 HBA1 HBA2 HBB

Sources for Glutathione Peroxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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