Details of Disease | DrugMAP

General Information of Disease (ID: DIS3RJK7)

Disease Name	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Synonyms	granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III; granulomatous disease, chronic, due to Ncf4 deficiency; CDG3; CGD, autosomal recessive cytochrome B-positive, type 3; chronic granulomatous disease 3, autosomal recessive; granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Disease Hierarchy	DIS9ZR24: Chronic granulomatous disease DIS3RJK7: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Disease Identifiers	MONDO ID MONDO_0013507 UMLS CUI C3151409 OMIM ID 613960 MedGen ID 462759

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
NCF1	TTZ4JC3	moderate	CausalMutation	[1]
MGAT2	TTJOW1I	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
NCF4	OTX007YL	Strong	Autosomal recessive	[3]
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References

1	Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.Clin Genet. 2015 Feb;87(2):185-9. doi: 10.1111/cge.12351. Epub 2014 Feb 17.
2	Congenital disorders of glycosylation: The Saudi experience.Am J Med Genet A. 2017 Oct;173(10):2614-2621. doi: 10.1002/ajmg.a.38358. Epub 2017 Jul 25.
3	Neutrophils from p40phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing. J Exp Med. 2006 Aug 7;203(8):1927-37. doi: 10.1084/jem.20052069. Epub 2006 Jul 31.