severe congenital neutropenia

Summary
Definition
A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
Super Class
neutropenia physical disorder
Disease Ontology
DOID:0050590
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1441 CSF3R colony stimulating factor 3 receptor
1991 ELANE elastase, neutrophil expressed
10456 HAX1 HCLS1 associated protein X-1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12986 Csf3r colony stimulating factor 3 receptor
50701 Elane elastase, neutrophil expressed
Displaying 1 entry
Gene ID Gene Symbol Description Source
850633 HSP104 chaperone ATPase HSP104

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024