Myeloperoxidase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: MPOD
mpo deficiency
Number of Symptoms 8
OrphanetNr: 2587
OMIM Id: 254600
ICD-10: E80.3
UMLs: C0398595
MeSH:
MedDRA:
Snomed: 129644003
234433009

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: Functional neutrophil defect
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
2
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
 (HPO:0002715) Abnormality of the immune system 46 / 7739
4
 (OMIM) Normal eosinophil peroxidase activity 1 / 7739
5
 (OMIM) Absence of peroxidase staining in neutrophils and monocytes 1 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) Disseminated candidiasis 1 / 7739
8
 (OMIM) Decreased myeloperoxidase activity in neutrophils and monocytes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lehrer and Cline (1969) found no detectable activity of the lysosomal enzyme myeloperoxidase in neutrophils and monocytes of a patient with disseminated candidiasis. Other granule-associated enzymes were normal. Leukocytes from one of the proband's sisters also showed no ...
Molecular genetics OMIM Using a cDNA probe for MPO in studies of 3 completely and 2 partially MPO-deficient persons, Nauseef (1989) found no evidence of major deletion or rearrangement of the MPO gene. Myeloid precursors in 1 patient contained normal amounts ...
Population genetics OMIM Although previously considered to be rare, MPO deficiency was found by Parry et al. (1981), using automated flow cytometry, to have a frequency of 1 in several thousand.

Cramer et al. (1982) found reports of 17 ...