Hereditary neutrophilia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary neutrophilia | |
| fr | Neutrophilie héréditaire | |
| de | Neutrophilie, hereditäre | |
| es | Neutrofilia hereditaria | |
| it | Neutrofilia ereditaria | |
| nl | Hereditaire neutrofilie | Erfelijke neutrofilie |
| pt | Neutrofilia hereditária | |
| pl | Neutrofilia dziedziczna | |
| cs | Hereditární neutrofilie | |
| uk | Спадкова нейтрофілія | |
| zh | 遗传性中性粒细胞增多症 | |
| tr | Kalıtsal nötrofili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162830 | E | validated | |
| ICD-10 | D72.8 | NTBT | attributed | validated |
| ICD-11 | 4B00.10 | NTBT | index | validated |
| MONDO | 0008092 | E | validated | |
| MeSH | C563010 | E | validated | |
| UMLS | C0543669 | 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 (2):
- ORPHA:183770Rare genetic immune disease
rare genetic diseases - ORPHA:98004Rare immune disease
rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSF3R | Disease-causing germline mutation(s) in | Assessed | HGNC:2439 | ENSG00000119535 | 138971 | 1p34.3 | colony stimulating factor 3 receptor | 19620628[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 19620628[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19620628[PMID] |
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/279943
- This record as JSON: /data/d/279943.json