Myeloperoxidase deficiency
Synonyms: MPO deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myeloperoxidase deficiency | MPO deficiency |
| fr | Déficit en myéloperoxydase | Déficit en MPO |
| de | Myeloperoxidase-Mangel | MPO-Mangel |
| es | Deficiencia de mieloperoxidasa | Deficiencia de MPO |
| it | Deficit di mieloperossidasi | Deficit di MPO |
| nl | Deficiëntie van myeloperoxidase | MPO-deficiëntie |
| pt | Deficiência de mieloperoxidase | Deficiência de MPO |
| pl | Niedobór mieloperoksydazy | Niedobór MPO |
| cs | Deficit myeloperoxidázy | Deficit MPO |
| uk | Дефіцит мієлопероксидази | Дефіцит MPO |
| zh | 髓过氧化物酶缺乏症 | 髓过氧化物酶缺乏症 |
| tr | Miyeloperoksidaz eksikliği | MPO eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254600 | E | validated | |
| ICD-10 | E80.3 | NTBT | attributed | validated |
| ICD-11 | 4A00.0Y | NTBT | index | validated |
| MONDO | 0009694 | E | validated | |
| MeSH | C562864 | E | validated | |
| UMLS | C0398595 | E | validated | |
| GARD | 3868 | E | validated | |
| MedDRA | 10074767 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:674896Non-syndromic congenital phagocyte functional defect
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MPO | Disease-causing germline mutation(s) in | Assessed | HGNC:7218 | ENSG00000005381 | 606989 | 17q22 | myeloperoxidase | 7904599[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 29262241[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29262241[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2587
- This record as JSON: /data/d/2587.json