Details of Disease | DrugMAP

General Information of Disease (ID: DIS8TTXF)

Disease Name	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Disease Hierarchy	DISES99N: Severe congenital neutropenia DIS664S0: Autosomal recessive severe congenital neutropenia DIS8TTXF: Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Disease Identifiers	MONDO ID MONDO_0018487 UMLS CUI C5190862 MedGen ID 1682018 Orphanet ID 420699 SNOMED CT ID 783200000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CXCR2	TT30C9G	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CXCR2	OTISGW7L	Supportive	Autosomal recessive	[1]
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References

1	Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat Genet. 2014 Jun;46(6):629-34. doi: 10.1038/ng.2962. Epub 2014 Apr 28.