Cyclic neutropenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cyclic neutropenia | |
| fr | Neutropénie cyclique | |
| de | Neutropenie, zyklische | |
| es | Neutropenia cíclica | |
| it | Neutropenia ciclica | |
| nl | Cyclische neutropenie | |
| pt | Neutropenia cíclica | |
| pl | Neutropenia cykliczna | |
| cs | Cyklické neutropenie | |
| uk | Циклічна нейтропенія | |
| zh | 周期性粒细胞减少症 | |
| tr | Siklik nötropeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162800 | E | validated | |
| ICD-10 | D70 | NTBT | inclusion | validated |
| ICD-11 | 4B00.00 | NTBT | index | validated |
| MONDO | 0008090 | E | validated | |
| MeSH | C536227 | E | validated | |
| UMLS | C0221023 | E | validated | |
| GARD | 6229 | E | validated | |
| MedDRA | 10053176 | 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:101987Congenital neutropenia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2689Intermittent neutropenia moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELANE | Disease-causing germline mutation(s) in | Assessed | HGNC:3309 | ENSG00000197561 | 130130 | 19p13.3 | elastase, neutrophil expressed | 14673143[PMID]_10581030[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Not yet 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
32 annotations · validated 2020-06-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002653 | Bone pain | |
| HP:0040289 | Cyclic neutropenia | |
| HP:0002315 | Headache | |
| HP:0000246 | Sinusitis | |
| Frequent (79-30%) | ||
| HP:0025289 | Cervical lymphadenopathy | |
| HP:0012378 | Fatigue | |
| HP:0000230 | Gingivitis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000155 | Oral ulcer | |
| HP:0032323 | Periodic fever | |
| HP:0025439 | Pharyngitis | |
| HP:0001954 | Recurrent fever | |
| HP:0001581 | Recurrent skin infections | |
| HP:0011110 | Recurrent tonsillitis | |
| HP:0011947 | Respiratory tract infection | |
| HP:0030757 | Tooth abscess | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0006308 | Atrophy of alveolar ridges | |
| HP:0100658 | Cellulitis | |
| HP:0031891 | Decreased eosinophil count | |
| HP:0001888 | Lymphopenia | |
| HP:0031690 | Opportunistic infection | |
| HP:0000388 | Otitis media | |
| HP:0009789 | Perianal abscess | |
| HP:0000704 | Periodontitis | |
| HP:0006357 | Premature loss of permanent teeth | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0031864 | Bacteremia | |
| HP:0004387 | Enterocolitis | |
| HP:0002586 | Peritonitis | |
| HP:0100806 | Sepsis | |
| HP:0032169 | Severe infection | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 32491328[PMID]_20301705[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2686
- This record as JSON: /data/d/2686.json