Preferred Label : Neutropenia, severe congenital, 5, autosomal recessive;
Symbol : SCN5;
CISMeF acronym : SCN5;
Type : Phenotype, molecular basis known;
Description : Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency
disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack
of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal
extramedullary hematopoiesis (summary by Vilboux et al., 2013). For a general phenotypic
description and a discussion of genetic heterogeneity of severe congenital neutropenia,
see SCN1 (202700).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the vacuolar protein sorting 45 homolog gene (VPS45, 610035.0001);
Prefixed ID : #615285;
Origin ID : 615285;
UMLS CUI : C3809031;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)