Details of Disease | DrugMAP

General Information of Disease (ID: DISX0DJD)

Disease Name	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Synonyms	neutropenia, severe congenital, 4, autosomal recessive; pulmonary arterial hypertension, leukopenia, and atrial septal defect; Dursun syndrome; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; neutropenia, severe congenital 4, autosomal recessive; severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome; severe congenital neutropenia type 4; SCN4
Disease Hierarchy	DISES99N: Severe congenital neutropenia DIS664S0: Autosomal recessive severe congenital neutropenia DISX0DJD: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Disease Identifiers	MONDO ID MONDO_0012930 MESH ID C567260 UMLS CUI C2751630 OMIM ID 612541 MedGen ID 414066 Orphanet ID 331176 SNOMED CT ID 783058007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
G6PC3	DEE1B8O	Strong	Genetic Variation	[1]
G6PC3	DEE1B8O	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
G6PC3	OTH7BWNL	Definitive	Autosomal recessive	[2]
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References

1	Mutations in the G6PC3 gene cause Dursun syndrome.Am J Med Genet A. 2010 Oct;152A(10):2609-11. doi: 10.1002/ajmg.a.33615.
2	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.