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 11 - 20 of 56 in total
Gene ID Gene Symbol Description Source
1577 CYP3A5 cytochrome P450 family 3 subfamily A member 5
1636 ACE angiotensin I converting enzyme
2215 FCGR3B Fc gamma receptor IIIb
2271 FH fumarate hydratase
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2542 SLC37A4 solute carrier family 37 member 4
3161 HMMR hyaluronan mediated motility receptor
3425 IDUA alpha-L-iduronidase
4153 MBL2 mannose binding lectin 2
4594 MMUT methylmalonyl-CoA mutase
Displaying 1 entry
Gene ID Gene Symbol Description Source
850633 HSP104 chaperone ATPase HSP104
Related Glycoprotein
Displaying entry 41 - 41 of 41 in total
UniProt ID Protein Name Source
Q9P2W7 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1

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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