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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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory