Details of Disease | DrugMAP

General Information of Disease (ID: DISXUJ5S)

Disease Name	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
Synonyms	granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I; granulomatous disease, chronic, due to Ncf1 deficiency; CGD, autosomal recessive cytochrome B-positive, type 1; soluble oxidase component II, deficiency of; Ncf1, deficiency of; p47-PHOX, deficiency of; neutrophil cytosol Factor 1, deficiency of; CDG1; Soc2, deficiency of; chronic granulomatous disease 1, autosomal recessive; chronic granulomatous disease caused by mutation in NCF1; NCF1 chronic granulomatous disease; granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
Definition	Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.
Disease Hierarchy	DIS9ZR24: Chronic granulomatous disease DISXUJ5S: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
Disease Identifiers	MONDO ID MONDO_0009309 MESH ID C565532 UMLS CUI C1856251 OMIM ID 233700 MedGen ID 341102

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	Strong	Autosomal recessive	[1]
NCF1	TTZ4JC3	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PMM2	DEBRX3L	moderate	Biomarker	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP2B3	OT9DIEOP	Strong	Biomarker	[4]
NCF1	OTMHT3G6	Strong	Autosomal recessive	[1]
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References

1	Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. Blood. 2000 Mar 15;95(6):2150-6.
2	Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.J Allergy Clin Immunol. 2013 Nov;132(5):1156-1163.e5. doi: 10.1016/j.jaci.2013.05.039. Epub 2013 Jul 31.
3	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.
4	Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.Brain Dev. 1999 Jun;21(4):223-8. doi: 10.1016/s0387-7604(99)00004-2.