Neutropenia, Severe Congenital, 5, Autosomal Recessive (SCN5)

Alias:

Scn5

Neutropenia, Congenital, Severe, Type 5, Autosomal Recessive

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Neutropenia, Severe Congenital 5, Autosomal Recessive

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Gene & Mutation

Related Drugs

Disease Model

References Literature

Neutropenia, Severe Congenital, 5, Autosomal Recessive, also known as scn5, is related to severe congenital neutropenia 5. An important gene associated with Neutropenia, Severe Congenital, 5, Autosomal Recessive is VPS45 (Vacuolar Protein Sorting 45 Homolog). Affiliated tissues include bone marrow and neutrophil, and related phenotypes are failure to thrive and splenomegaly

Related ID：

MALACARDS：NTR031

OMIM：615285

MESH：D007153