OBO ID: DOID:0112132
Term Name: severe congenital neutropenia 5 Search Ontology:
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 VPS45 on chromosome 1q21.2. (2)
References:
Ontology: Human Disease   (DOID:0112132)
OTHER severe congenital neutropenia 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VPS45 Neutropenia, severe congenital, 5, autosomal recessive 615285
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None