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 1 - 10 of 56 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
142 PARP1 poly(ADP-ribose) polymerase 1
175 AGA aspartylglucosaminidase
945 CD33 CD33 molecule
1056 CEL carboxyl ester lipase
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
1558 CYP2C8 cytochrome P450 family 2 subfamily C member 8
1559 CYP2C9 cytochrome P450 family 2 subfamily C member 9
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