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Human Disease

severe congenital neutropenia 5

Term ID
DOID:0112132
Synonyms
  • congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
  • congenital neutropenia-myelofibrosis-nephromegaly syndrome
  • SCN5
  • VPS45 deficiency
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. (2)
References
Ontology
Human Disease   ( DOID:0112132 )
Relationships
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Genes Involved
Zebrafish Models