ZFIN Human Disease: severe congenital neutropenia 5

OBO ID: DOID:0112132

Term Name:	severe congenital neutropenia 5		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease severe congenital neutropenia autosomal recessive disease severe congenital neutropenia Show first 5 Terms

OTHER severe congenital neutropenia 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
VPS45	vps45	Neutropenia, severe congenital, 5, autosomal recessive	615285

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None