Details of Disease | DrugMAP

General Information of Disease (ID: DISWTVMY)

Disease Name	Hereditary neutrophilia
Synonyms	neutrophilia, hereditary
Definition	A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.
Disease Hierarchy	DISYKSRF: Genetic disease DIS17G9I: Leukocyte disorder DISWTVMY: Hereditary neutrophilia
Disease Identifiers	MONDO ID MONDO_0008092 MESH ID C563010 UMLS CUI C0543669 OMIM ID 162830 MedGen ID 154252 Orphanet ID 279943 SNOMED CT ID 129639005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSF3R	TTC70AJ	Disputed	Genetic Variation	[1]
CSF3R	TTC70AJ	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSF3R	OTXRAY6X	Strong	Autosomal dominant	[2]
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References

1	Hereditary erythrocytosis, thrombocytosis and neutrophilia.Best Pract Res Clin Haematol. 2014 Jun;27(2):95-106. doi: 10.1016/j.beha.2014.07.002. Epub 2014 Jul 18.
2	An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. J Exp Med. 2009 Aug 3;206(8):1701-7. doi: 10.1084/jem.20090693. Epub 2009 Jul 20.