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ENSevere Congenital Neutropenia 5 (SCN5)
Alias:
Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome
Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome
Vps45 Deficiency
Scn5
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Severe Congenital Neutropenia 5, also known as congenital neutropenia-myelofibrosis-nephromegaly syndrome, is related to neutropenia and severe congenital neutropenia. An important gene associated with Severe Congenital Neutropenia 5 is VPS45 (Vacuolar Protein Sorting 45 Homolog), and among its related pathways/superpathways are wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and Diseases of carbohydrate metabolism. Affiliated tissues include bone marrow and bone, and related phenotype is mortality/aging.
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