X-linked severe congenital neutropenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the <i>WAS</i> gene, encoding the WASP protein.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked severe congenital neutropenia | |
| fr | Neutropénie sévère congénitale liée à l'X | |
| de | Neutropenie, kongenitale schwere, X-chromosomale | |
| es | Neutropenia congénita grave ligada al cromosoma X | |
| it | Neutropenia congenita grave legata all'X | |
| nl | X-gebonden ernstige congenitale neutropenie | |
| pt | Neutropenia congénita grave ligada ao X | |
| pl | Wrodzona ciężka neutropenia sprzężona z chromosomem X | |
| cs | X-vázaná těžká vrozená neutropenie | |
| uk | Х-зчеплена тяжка вроджена нейтропенія | |
| zh | X连锁严重先天性中性粒细胞减少症 | |
| tr | X'e bağlı ağır doğumsal nötropeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300299 | E | validated | |
| ICD-10 | D70 | NTBT | attributed | validated |
| ICD-11 | 4B00.00 | NTBT | index | validated |
| MONDO | 0010294 | E | validated | |
| MeSH | C564539 | E | validated | |
| UMLS | C1845987 | E | validated | |
| GARD | 3981 | 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:42738Severe 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 |
|---|---|---|---|---|---|---|---|---|
| WAS | Disease-causing germline mutation(s) in | Assessed | HGNC:12731 | ENSG00000015285 | 300392 | Xp11.23 | WASP actin nucleation promoting factor | 11242115[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 45 cases | Worldwide | Case(s) | Validated | 16804117[PMID]_11242115[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001875 | Decreased total neutrophil count | |
| HP:0012312 | Monocytopenia | |
| HP:0002718 | Recurrent bacterial infections | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 11242115[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86788
- This record as JSON: /data/d/86788.json