GLUTATHIONE PEROXIDASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: GPXD
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614164
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004863) Compensated hemolytic anemia 2 / 7739
2
(HPO:0003265) Neonatal hyperbilirubinemia 6 / 7739
3
(MedDRA:10019372) Heinz bodies 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Hemolytic disease of the newborn 1 / 7739
6
(OMIM) Glutathione peroxidase deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Necheles et al. (1968) observed hemolytic disease of the newborn with hyperbilirubinemia and Heinz bodies, associated with partial deficiency of red cell glutathione peroxidase. The clinical manifestations were self-limited; evidence of hemolysis had disappeared by 3 months of ...