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Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Disease definition

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).


Classification level: Disorder
  • Synonym(s):
    • Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
    • VPS45 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D70
  • OMIM: 615285
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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