Details of Disease | DrugMAP

General Information of Disease (ID: DIS3X9I0)

Disease Name	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Synonyms	SCN7; neutropenia, severe congenital, 7, autosomal recessive; neutropenia, Severe congenital, 7, autosomal recessive
Disease Hierarchy	DISES99N: Severe congenital neutropenia DIS664S0: Autosomal recessive severe congenital neutropenia DIS3X9I0: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Disease Identifiers	MONDO ID MONDO_0014865 UMLS CUI C4310764 OMIM ID 617014 MedGen ID 934731 Orphanet ID 420702

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	Strong	Autosomal recessive	[1]
CSF3R	TTC70AJ	Strong	Genetic Variation	[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 recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations.Blood. 2015 Oct 8;126(15):1865-7. doi: 10.1182/blood-2015-07-661264. Epub 2015 Aug 31.