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
External Links
Disease Ontology
DOID:0050590
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 56 in total
Gene ID Gene Symbol Description Source
7372 UMPS uridine monophosphate synthetase
8794 TNFRSF10C TNF receptor superfamily member 10c
9663 LPIN2 lipin 2
10135 NAMPT nicotinamide phosphoribosyltransferase
10559 SLC35A1 solute carrier family 35 member A1
10998 SLC27A5 solute carrier family 27 member 5
25839 COG4 component of oligomeric golgi complex 4
26503 SLC17A5 solute carrier family 17 member 5
27087 B3GAT1 beta-1,3-glucuronyltransferase 1
51302 CYP39A1 cytochrome P450 family 39 subfamily A member 1
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: August 19, 2024