Details of Disease | DrugMAP

General Information of Disease (ID: DISMVYO8)

Disease Name	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Synonyms	neutropenia, severe congenital, 6, autosomal recessive; SCN6
Disease Hierarchy	DISES99N: Severe congenital neutropenia DIS664S0: Autosomal recessive severe congenital neutropenia DISMVYO8: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Disease Identifiers	MONDO ID MONDO_0014456 UMLS CUI C4014954 OMIM ID 616022 MedGen ID 863391 Orphanet ID 423384

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
JAGN1	OTHBA8GT	Strong	Autosomal recessive	[1]
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References

1	JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17.