GPXD
MCID: GLT039
MIFTS: 33

Glutathione Peroxidase Deficiency (GPXD)

Aliases & Classifications for Glutathione Peroxidase Deficiency

MalaCards integrated aliases for Glutathione Peroxidase Deficiency:

Name: Glutathione Peroxidase Deficiency 57 29 39
Hemolytic Anemia Due to Glutathione Peroxidase Deficiency 57 13
Gluthathione Peroxidase Deficiency 70
Gpxd 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
glutathione peroxidase deficiency:
Inheritance autosomal recessive inheritance


External Ids:

OMIM® 57 614164
MedGen 41 C0398747
SNOMED-CT via HPO 68 258211005 281610001
UMLS 70 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) (Updated 05-Apr-2021)

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 Folate Metabolism and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include brain, monocytes and t cells, and related phenotypes are neonatal hyperbilirubinemia and heinz bodies

Wikipedia : 73 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 48)
# Related Disease Score Top Affiliating Genes
1 heinz body anemias 31.6 HBB HBA2 HBA1
2 hemolytic anemia 29.8 HBB HBA2 HBA1 GPX1
3 chronic granulomatous disease 10.2
4 abetalipoproteinemia 10.1
5 granulomatous disease, chronic, autosomal recessive, 1 10.1
6 hemoglobinuria 10.1
7 seizure disorder 10.1
8 microcytic anemia 10.1 HBA2 HBA1
9 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.1 HBA2 HBA1
10 immune hydrops fetalis 10.1 HBA2 HBA1
11 alpha thalassemia-intellectual disability syndrome type 1 10.1 HBA2 HBA1
12 erythrocytosis, familial, 7 10.1 HBA2 HBA1
13 hypoglycemic coma 10.1 HBA2 HBA1
14 type 1 diabetes mellitus 24 10.0 HBA2 HBA1
15 hemoglobin zurich 10.0 HBB HBA2
16 hydrops fetalis, nonimmune 10.0 HBA2 HBA1
17 thalassemia minor 10.0 HBB HBA2
18 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
19 ocular motor apraxia 10.0
20 pre-eclampsia 10.0
21 eclampsia 10.0
22 transient cerebral ischemia 10.0
23 bilirubin metabolic disorder 10.0
24 ischemia 10.0
25 choriocarcinoma 10.0
26 liver cirrhosis 10.0
27 acquired immunodeficiency syndrome 10.0
28 malignant hyperthermia 10.0
29 splenomegaly 10.0 HBA2 HBA1
30 histiocytosis-lymphadenopathy plus syndrome 9.9 HBB HBA2
31 ileocolitis 9.9 GPX3 GPX1
32 congenital hemolytic anemia 9.9 HBB HBA2
33 methemoglobinemia 9.8 HBB HBA2 HBA1
34 methemoglobinemia, beta-globin type 9.8 HBB HBA2 HBA1
35 hypochromic microcytic anemia 9.8 HBB HBA2 HBA1
36 thalassemia 9.8 HBB HBA2 HBA1
37 alpha-thalassemia 9.8 HBB HBA2 HBA1
38 hemoglobin h disease 9.8 HBB HBA2 HBA1
39 hemoglobinopathy 9.8 HBB HBA2 HBA1
40 polycythemia 9.8 HBB HBA2
41 sickle cell anemia 9.8 HBB HBA2 HBA1
42 beta-thalassemia 9.7 HBB HBA2 HBA1
43 sickle cell disease 9.6 SELP HBB HBA2
44 pseudoxanthoma elasticum 9.5 SELP GPX1
45 deficiency anemia 9.3 SELP HBB HBA2 HBA1
46 malaria 9.2 SELP HBB HBA2 HBA1
47 type 2 diabetes mellitus 9.1 SELP HBA1 GPX3 GPX1
48 diabetes mellitus 8.9 SELP HBB HBA1 GPX3 GPX1

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



Diseases related to Glutathione Peroxidase Deficiency

Symptoms & Phenotypes for Glutathione Peroxidase Deficiency

Human phenotypes related to Glutathione Peroxidase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 neonatal hyperbilirubinemia 31 HP:0003265
2 heinz bodies 31 HP:0020082
3 compensated hemolytic anemia 31 HP:0004863

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
neonatal hyperbilirubinemia

Heme:
compensated hemolytic anemia
hemolytic disease of the newborn

Lab:
heinz bodies
glutathione peroxidase deficiency

Misc:
selenium deficiency interaction

Clinical features from OMIM®:

614164 (Updated 05-Apr-2021)

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 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.73 GPX1 HBA1 HBA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.73 GPX1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.73 GPX1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.73 GPX1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.73 GPX1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-205 9.73 HBA1 HBA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.73 GPX1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.73 HBA1 HBA2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.23 HBA1 HBA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.23 HBA1 HBA2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.23 HBA1 HBA2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.23 HBA1 HBA2

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:

40
Brain, Monocytes, T Cells, Endothelial

Publications for Glutathione Peroxidase Deficiency

Articles related to Glutathione Peroxidase Deficiency:

(show all 44)
# Title Authors PMID Year
1
Neonatal erythrocyte glutathione peroxidase deficiency as a consequence of selenium imbalance during pregnancy. 61 57
476008 1979
2
Homozygous glutathione-peroxidase deficiency of erythrocytes and leukocytes. 61 57
4664332 1972
3
Erythrocyte glutathione peroxidase deficiency. Biochemical studies on the mechanisms of drug-induced hemolysis. 57 61
5572598 1971
4
Erythrocyte glutathione-peroxidase deficiency. 61 57
5481505 1970
5
Acute hemolytic anemia associated with erythrocyte glutathione-peroxidase deficiency. 57 61
5412019 1970
6
Homozygous erythrocyte glutathione-peroxidase deficiency: clinical and biochemical studies. 57 61
5766310 1969
7
Glutathione peroxidase and selenium deficiency in patients receiving home parenteral nutrition: time course for development of deficiency and repletion of enzyme activity in plasma and blood cells. 57
2492138 1989
8
Selenium repletion and glutathione peroxidase--differential effects on plasma and red blood cell enzyme activity. 57
3920895 1985
9
Ethnic variation in red cell glutathione peroxidase activity. 57
1131421 1975
10
Analysis of candidate colitis genes in the Gdac1 locus of mice deficient in glutathione peroxidase-1 and -2. 61
22970191 2012
11
Glutathione peroxidase deficiency exacerbates ischemia-reperfusion injury in male but not female myocardium: insights into antioxidant compensatory mechanisms. 61
19801492 2009
12
[Reflections on mental retardation and congenital hypothyroidism: effects of trace mineral deficiencies]. 61
17897901 2007
13
Mimicking of glutathione peroxidase deficiency by exposition of JAR cells to increased level of synthetic hydroperoxide. 61
16425157 2005
14
Heterozygous cellular glutathione peroxidase deficiency in the mouse: abnormalities in vascular and cardiac function and structure. 61
12196344 2002
15
Cellular glutathione peroxidase deficiency and endothelial dysfunction. 61
11893559 2002
16
Plasma glutathione peroxidase deficiency and platelet insensitivity to nitric oxide in children with familial stroke. 61
10446087 1999
17
Plasma glutathione peroxidase deficiency caused by renal dysfunction. 61
8773346 1996
18
Chronic granulomatous disease and glutathione peroxidase deficiency, revisited. 61
7949143 1994
19
Lipid hydroperoxides induce apoptosis in T cells displaying a HIV-associated glutathione peroxidase deficiency. 61
8288627 1994
20
Acute hemolysis in glutathione peroxidase deficiency. 61
1498313 1992
21
Glutathione peroxidase deficiency and childhood seizures. 61
1679502 1991
22
Glutathione peroxidase deficiency and childhood seizures. 61
1675321 1991
23
[Glutathione peroxidase deficiency in patients in chronic coma treated by prolonged enteral alimentation]. 61
2127864 1990
24
Leukocyte functions. 61
3543488 1987
25
Glutathione peroxidase activity in Parkinson's disease brain. 61
4047494 1985
26
Haemoglobin H (HbH) disease and severe glutathione peroxidase deficiency: an undescribed association in a mentally retarded child. 61
6849835 1983
27
Glutathione peroxidase deficiency in multiple sclerosis. 61
7102265 1982
28
Malignant hyperthermia (MH): porcine erythrocyte damage from oxidation and glutathione peroxidase deficiency. 61
7291194 1981
29
Treatment of glutathione peroxidase deficiency with vitamin E. 61
7375069 1980
30
[Haemolytic anaemia with acanthocytosis and erythrocytic glutathione peroxidase deficiency in severe hepatic diseases. 5 cases (author's transl)]. 61
7355098 1980
31
Role of membrane vitamin E and cytoplasmic glutathione in the regulation of phagocytic functions of neutrophils and monocytes. 61
396794 1979
32
Antioxidant relationship between selenium-dependent glutathione peroxidase and tocopherol. 61
543508 1979
33
Glutathione peroxidase in dried blood spots. 61
32067 1978
34
Polymorphonuclear leukocyte bactericidal activity and oxidative metabolism during glutathione peroxidase deficiency. 61
198376 1977
35
Leukocyte glutathione peroxidase deficiency in a male patient with chronic granulomatous disease. 61
1255315 1976
36
[March hemoglobinuria. One case with erythrocyte glutathione peroxidase deficiency]. 61
1134932 1975
37
[Glutathione peroxidase deficiency, acanthocytosis and hemolytic anemia during cirrhosis]. 61
4377322 1974
38
Glutathione peroxidase deficiency with increased susceptibility to erythrocyte Heinz body formation. 61
4448045 1974
39
Heterozygous erythrocyte glutathione peroxidase deficiency associated with neonatal hyperbilirubinemia found in a Japanese family. 61
4479916 1974
40
[Sulfhemoglobin and glutathione peroxidase deficiency]. 61
4845290 1974
41
[Erythrocyte glutathione-peroxidase deficiency and drug-induced hemolytic anemia. A further case]. 61
5418590 1970
42
[Hemolytic anemia with glutathione peroxidase deficiency in an adult]. 61
5305372 1969
43
[Glutathione peroxidase deficiency in the erythrocytes in the newborn with hemolytic anemia]. 61
5753806 1968
44
[Hemolytic anemia in the newborn with glutathione peroxidase deficiency]. 61
5607274 1967

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 SELP HBB HBA2 HBA1 GPX3
2 blood microparticle GO:0072562 9.43 HBB HBA2 HBA1
3 cytosolic small ribosomal subunit GO:0022627 9.37 HBA2 HBA1
4 endocytic vesicle lumen GO:0071682 9.33 HBB HBA2 HBA1
5 hemoglobin complex GO:0005833 9.13 HBB HBA2 HBA1
6 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBA2 HBA1

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 9.58 HBB HBA2 HBA1
2 positive regulation of cell death GO:0010942 9.54 HBB HBA2 HBA1
3 bicarbonate transport GO:0015701 9.5 HBB HBA2 HBA1
4 response to oxidative stress GO:0006979 9.46 GPX3 GPX1
5 response to hydrogen peroxide GO:0042542 9.46 HBB HBA2 HBA1 GPX1
6 cellular response to oxidative stress GO:0034599 9.43 GPX3 GPX1
7 oxygen transport GO:0015671 9.43 HBB HBA2 HBA1
8 cellular oxidant detoxification GO:0098869 9.35 HBB HBA2 HBA1 GPX3 GPX1
9 hydrogen peroxide catabolic process GO:0042744 9.02 HBB HBA2 HBA1 GPX3 GPX1

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 HBB HBA2 HBA1
2 oxygen binding GO:0019825 9.5 HBB HBA2 HBA1
3 iron ion binding GO:0005506 9.43 HBA2 HBA1
4 oxygen carrier activity GO:0005344 9.43 HBB HBA2 HBA1
5 glutathione peroxidase activity GO:0004602 9.4 GPX3 GPX1
6 organic acid binding GO:0043177 9.33 HBB HBA2 HBA1
7 haptoglobin binding GO:0031720 9.13 HBB HBA2 HBA1
8 peroxidase activity GO:0004601 9.02 HBB HBA2 HBA1 GPX3 GPX1

Sources for Glutathione Peroxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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