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

• OMIM:615285
• ORDO:369852

Ontology

Human Disease   ( DOID:0112132 )