ORPHA:42738
Severe congenital neutropenia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare primary immunodeficiency, without an associated lymphocyte deficit, characterized by impaired neutrophil maturation and/or function, associated with severe infections, diverse comorbidities, and/or an increased risk of leukemic transformation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe congenital neutropenia | |
| fr | Neutropénie congénitale sévère | |
| de | Neutropenie, kongenitale schwere | |
| es | Neutropenia congénita grave | |
| it | Neutropenia congenita grave | |
| nl | Ernstige congenitale neutropenie | |
| pt | Neutropenia congénita | |
| pl | Ciężka wrodzona neutropenia | |
| cs | Těžká vrozená neutropenie, typ 3 | Kostmannova choroba |
| uk | Тяжка вроджена нейтропенія | |
| zh | 重型先天性中性白细胞减少症 | |
| tr | Ağır doğumsal nötropeni |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018542 | E | validated | |
| MONDO | 18542 | E | validated | |
| UMLS | C1853118 | E | validated | |
| GARD | 13592 | E | validated | |
| MedDRA | 10052210 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101987Congenital neutropenia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:37629Neonatal neutropenia moved to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | Worldwide | Value and class | Not yet validated | 12555210[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Sweden | Value and class | Validated | 22624626[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Sweden | Class only | Not yet validated | 22624626[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | France | Value and class | Validated | 20399414[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.077 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 17024564[PMID] |
| Point prevalence | 1-5 / 10 000 | 25.7 / 100 000 | China | Value and class | Validated | 34103049[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/42738
- This record as JSON: /data/d/42738.json