Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the <i>CSF3R</i> gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | |
| fr | Neutropénie congénitale sévère autosomique récessive par déficit en CSF3R | |
| de | Neutropenie, kongenitale schwere, autosomal-rezessive, durch CSF3R-Mangel | |
| es | Neutropenia congénita grave autosómica recesiva por deficiencia en CSF3R | |
| it | Neutropenia congenita grave, autosomica recessiva, da deficit di CSF3R | |
| nl | Autosomaal recessieve ernstige congenitale neutropenie door CSF3R-deficiëntie | |
| pt | Neutropenia congénita grave autossómica recessiva por deficiência de CSF3R | |
| pl | Autosomalna recesywna ciężka wrodzona neutropenia z powodu niedoboru CSF3R | |
| cs | Autozomálně recesivní těžká vrozená neutropenie způsobená deficitem CSF3R | |
| uk | Аутосомно-рецесивна тяжка вроджена нейтропенія, зумовлена дефіцитом CSF3R | |
| zh | CSF3R缺陷所致的常染色体隐性遗传性先天性中性粒细胞减少症 | |
| tr | CSF3R eksikliğine bağlı otozomal resesif ağır doğumsal nötropeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617014 | E | validated | |
| ICD-10 | D70 | NTBT | attributed | validated |
| MONDO | 0014865 | E | validated | |
| UMLS | C5190863 | 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:439849Autosomal recessive severe congenital neutropenia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSF3R | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2439 | ENSG00000119535 | 138971 | 1p34.3 | colony stimulating factor 3 receptor | 24753537[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24753537[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24753537[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/420702
- This record as JSON: /data/d/420702.json