loading...| Preferred Name |
Cyclic neutropenia |
|
| Synonyms |
Cyclic hematopoiesis |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536227 |
|
| altLabel |
Cyclic hematopoiesis Periodic Neutropenia Cyclic Hematopoesis Neutropenia, cyclic Cyclic Leucopenia |
|
| cui |
C3671688 C0221023 |
|
| HM |
D009503 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
89 |
|
| MMR |
20150818 |
|
| notation |
C536227 |
|
| prefLabel |
Cyclic neutropenia |
|
| SC |
3 |
|
| Scope Statement |
A rare form of neutropenia characterized by regular 21-day cyclic fluctuations in the number of blood NEUTROPHILS; MONOCYTES; EOSINOPHILS; LYMPHOCYTES; PLATELETS, and RETICULOCYTES. Patients experience periodic symptoms of FEVER, malaise, mucosal ulcers, and, rarely, life-threatening infections. The disease occurs both as a hereditary autosomal dominant disorder and in an acquired form, with identical phenotypic presentations. Mutations in the ELANE gene have been identified for the inherited form. OMIM: 162800 |
|
| TERMUI |
T738669 T738668 T841228 T738667 T841227 T841229 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |