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Severe congenital neutropenia

Disease ID:1263
Name:Severe congenital neutropenia
Associated with:1 target
Kostmann syndrome
Severe congenital neutropenia (SCN) is a heterogeneous disorder of hematopoiesis. The resulting subnormal neutrophil counts lead to early onset of severe bacterial infections. SCN can be caused by mutations in several genes including ELANE, GFI1, HAX1, G6PC3, VPS45, WASP and CSF3R. SCN1 is the commonest subtype and is caused by autosomal dominant inheritance of a defective ELANE gene.
Database Links
OMIM: 202700, 617014, 610738, 613107, 612541, 615285, 300299, 616022


Granulocyte colony-stimulating factor receptor
Role:  SCN7 is caused by mutation in the gene for the CSF3 receptor (CSF3R), also know as the granulocyte colony-stimulating factor receptor.


No ligand related data available for Severe congenital neutropenia