Gray Collie Syndrome (Cyclic Neutropenia)
Kodas: H752
Short description
Cyclic Neutropenia is a stem cell disease, which is characterised by cyclic fluctuations in leukocyte numbers, especially the neutrophils.
General information
Cyclic Neutropenia is a stem cell disease, which is characterised by cyclic fluctuations in leukocyte numbers, especially the neutrophils.
In dogs the disease is also known as cyclic hematopoiesis or Grey/Gray Collie Syndrom. In humans known as Hermansky-Pudlak Syndrome 2 (HPS-2).
Specifications
| Breeds | |
|---|---|
| Gene | AP3B1 |
| Chromosome | 3 |
| Mutation | c.2401_2402insA |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | Cyclic hematopoiesis. Grey/gray collie syndrom |
Clinical features
Affected animals have an associated coat colour dilution, causing a gray coat colour. The cyclic neutropenia is associated with symptoms as recurrent fever, anorexia and severe - often life threathening - infections.
References
Pubmed ID: 12897784
Year published: 2003
Omia ID: 248
Omia variant ID:
Turnaround information
- 10 working days