Neutropenia, severe congenital, 5, autosomal recessive

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;

Details

Origin ID

615285;

UMLS CUI

C3809031;

Automatic exact mappings (from CISMeF team)
- VPS45 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) [SNOMED CT concept]
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome [ORDO Disease]
- Severe Congenital Neutropenia Type 5, Autosomal Recessive [NCIt concept]
- severe congenital neutropenia 5 [DO Concept]
Genes related to phenotype
- Vacuolar protein sorting 45 homolog [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Extramedullary hematopoiesis [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Increased circulating antibody level [HPO term]
- Infantile onset [HPO term]
- Leukopenia [HPO term]
- Neutropenia [HPO term]
- Recurrent infections [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome [ORDO Disease]
- Severe Congenital Neutropenia Type 5, Autosomal Recessive [NCIt concept]

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