Conditions / Genetic
severe congenital neutropenia 5
info · Genetic
A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound he
A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2.
Signs and symptoms
- Hepatomegaly
- Increased circulating immunoglobulin concentration
- Failure to thrive
- Recurrent infections
- Anemia
- Extramedullary hematopoiesis
- Thrombocytopenia
- Splenomegaly
- Enlarged kidney
- Decreased total neutrophil count
Also known as: SCN5; VPS45 deficiency; congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; congenital neutropenia-myelofibrosis-nephromegaly syndrome