severe congenital neutropenia 5 (DOID:0112132)
Alliance: disease page
Synonyms: congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; congenital neutropenia-myelofibrosis-nephromegaly syndrome; SCN5; VPS45 deficiency
Alt IDs: OMIM:615285, ORDO:369852
Definition: 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.