Kostmann syndrome
Synonyms: Infantile agranulocytosis · Severe congenital neutropenia type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kostmann syndrome | Infantile agranulocytosis · Severe congenital neutropenia type 3 |
| fr | Syndrome de Kostmann | Agranulocytose constitutionnelle · Agranulocytose infantile · Neutropénie congénitale sévère type 3 |
| de | Kostmann-Syndrom | Neutropenie, kongenitale schwere, Typ 3 · Infantile Agranulozytose |
| es | Síndrome de Kostmann | Agranulocitosis infantil · Neutropenia congénita grave tipo 3 |
| it | Sindrome di Kostmann | Agranulocitosi infantile · Neutropenia congenita grave, tipo 3 |
| nl | Syndroom van Kostmann | Ernstige congenitale neutropenie type 3 · Infantiele agranulocytose |
| pt | Síndrome de Kostmann | |
| pl | Zespół Kostmanna | Agranulocytoza dziecięca · Ciężka wrodzona neutropenia typu 3 |
| cs | Kostmannův syndrom | Infantilní agranulocytóza |
| uk | Синдром Костмана | Інфантильний агранулоцитоз · Тяжка вроджена нейтропенія типу 3 |
| zh | Kostmann综合征 | 重度先天性中性粒细胞减少症3型 |
| tr | Kostmann sendromu | İnfantil agranülositoz · Ağır doğumsal nötropeni tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610738 | E | validated | |
| ICD-10 | D70 | NTBT | inclusion | validated |
| ICD-11 | 4B00.00 | NTBT | index | validated |
| MONDO | 0012548 | E | validated | |
| MeSH | C537592 | E | validated | |
| UMLS | C5235141 | E | validated | |
| GARD | 302 | 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:439849Autosomal recessive severe congenital neutropenia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HAX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:16915 | ENSG00000143575 | 605998 | 1q21.3 | HCLS1 associated protein X-1 | 17187068[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 45 cases | Worldwide | Case(s) | Validated | 23351985[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.0425 / 100 000 | Brazil | Value and class | Validated | 35209917[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/99749
- This record as JSON: /data/d/99749.json