GPXD
MCID: GLT039
MIFTS: 36

Glutathione Peroxidase Deficiency (GPXD)

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 hemolytic anemia. An important gene associated with Glutathione Peroxidase Deficiency is GPX1 (Glutathione Peroxidase 1), and among its related pathways/superpathways are Selenium Micronutrient Network 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

Diseases related to Glutathione Peroxidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 heinz body anemias 32.0 HBA1 HBA2 HBB
2 hemolytic anemia 29.6 HBA1 HBA2 HBB
3 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.1 HBA1 HBA2
4 diabetes mellitus, insulin-dependent, 24 10.1 HBA1 HBA2
5 hydrops fetalis, nonimmune 10.1 HBA1 HBA2
6 hydrops fetalis 10.1 HBA1 HBA2
7 immune hydrops fetalis 10.1 HBA1 HBA2
8 hypoglycemic coma 10.1 HBA1 HBA2
9 erythrocytosis, familial, 7 10.1 HBA1 HBA2
10 type 1 diabetes mellitus 7 10.1 HBA1 HBA2
11 hemoglobin zurich 10.1 HBA2 HBB
12 type 1 diabetes mellitus 11 10.1 HBA1 HBA2
13 chronic granulomatous disease 10.0
14 immature cataract 10.0 HBA1 HBA2
15 microcytic anemia 10.0 HBA1 HBA2
16 retinal vascular disease 10.0 HBA1 HBA2
17 hypochromic microcytic anemia 10.0 HBA2 HBB
18 rubeosis iridis 10.0 HBA2 HBB
19 glucose metabolism disease 9.9 HBA1 HBA2
20 congenital hemolytic anemia 9.9 HBA2 HBB
21 methemoglobinemia, beta-globin type 9.9 HBA1 HBA2 HBB
22 alpha thalassemia-intellectual disability syndrome type 1 9.9 HBA1 HBA2 HBB
23 thalassemia 9.9 HBA1 HBA2 HBB
24 hemoglobin h disease 9.9 HBA1 HBA2 HBB
25 hemoglobinopathy 9.9 HBA1 HBA2 HBB
26 alpha-thalassemia 9.9 HBA1 HBA2 HBB
27 sickle cell anemia 9.9 HBA1 HBA2 HBB
28 beta-thalassemia 9.9 HBA1 HBA2 HBB
29 multiple sclerosis 9.9
30 ischemia 9.9
31 malignant hyperthermia 9.9
32 deficiency anemia 9.8 HBA2 HBB
33 sickle cell disease 9.8 HBA2 HBB SELP
34 malaria 9.6 HBA1 HBA2 HBB SELP

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
Skin:
neonatal hyperbilirubinemia

Lab:
glutathione peroxidase deficiency
heinz bodies

Heme:
hemolytic disease of the newborn
compensated hemolytic anemia

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 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.7 GPX1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 GPX1 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.7 GPX1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.7 GPX1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 HBA1 HBA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.7 GPX1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.7 GPX1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.7 GPX1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.7 HBA1 HBA2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 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 25)
# 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
Heterozygous cellular glutathione peroxidase deficiency in the mouse: abnormalities in vascular and cardiac function and structure. ( 12196344 )
2002
5
Plasma glutathione peroxidase deficiency and platelet insensitivity to nitric oxide in children with familial stroke. ( 10446087 )
1999
6
Plasma glutathione peroxidase deficiency caused by renal dysfunction. ( 8773346 )
1996
7
Lipid hydroperoxides induce apoptosis in T cells displaying a HIV-associated glutathione peroxidase deficiency. ( 8288627 )
1994
8
Chronic granulomatous disease and glutathione peroxidase deficiency, revisited. ( 7949143 )
1994
9
Acute hemolysis in glutathione peroxidase deficiency. ( 1498313 )
1992
10
Glutathione peroxidase deficiency and childhood seizures. ( 1679502 )
1991
11
Glutathione peroxidase deficiency and childhood seizures. ( 1675321 )
1991
12
Haemoglobin H (HbH) disease and severe glutathione peroxidase deficiency: an undescribed association in a mentally retarded child. ( 6849835 )
1983
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
Heterozygous erythrocyte glutathione peroxidase deficiency associated with neonatal hyperbilirubinemia found in a Japanese family. ( 4479916 )
1974
20
Glutathione peroxidase deficiency with increased susceptibility to erythrocyte Heinz body formation. ( 4448045 )
1974
21
Homozygous glutathione-peroxidase deficiency of erythrocytes and leukocytes. ( 4664332 )
1972
22
Erythrocyte glutathione peroxidase deficiency. Biochemical studies on the mechanisms of drug-induced hemolysis. ( 5572598 )
1971
23
Acute hemolytic anemia associated with erythrocyte glutathione-peroxidase deficiency. ( 5412019 )
1970
24
Erythrocyte glutathione-peroxidase deficiency. ( 5481505 )
1970
25
Homozygous erythrocyte glutathione-peroxidase deficiency: clinical and biochemical studies. ( 5766310 )
1969

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 space GO:0005615 9.72 GPX3 HBA1 HBA2 HBB SELP
2 blood microparticle GO:0072562 9.43 HBA1 HBA2 HBB
3 cytosolic small ribosomal subunit GO:0022627 9.37 HBA1 HBA2
4 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
5 hemoglobin complex GO:0005833 9.13 HBA1 HBA2 HBB
6 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 heme binding GO:0020037 9.54 HBA1 HBA2 HBB
2 oxygen binding GO:0019825 9.5 HBA1 HBA2 HBB
3 iron ion binding GO:0005506 9.43 HBA1 HBA2
4 oxygen carrier activity GO:0005344 9.43 HBA1 HBA2 HBB
5 glutathione peroxidase activity GO:0004602 9.4 GPX1 GPX3
6 organic acid binding GO:0043177 9.33 HBA1 HBA2 HBB
7 haptoglobin binding GO:0031720 9.13 HBA1 HBA2 HBB
8 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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