Details of Disease

Disease Name

Granulomatous disease, chronic, X-linked

CGD; chronic granulomatous disease, X-linked, X-linked recessive; chronic granulomatous disease, X-linked; granulomatous disease, chronic, X-linked, variant; chronic granulomatous disease, atypical; granulomatous disease, chronic, X-linked; cytochrome B-negative granulomatous disease, chronic, X-linked; CDGX; cytochrome B-positive granulomatous disease, chronic, X-linked; granulomatous disease, chronic, autosomal dominant type

Disease Hierarchy

DIS9ZR24: Chronic granulomatous disease

DISNTTS3: Granulomatous disease, chronic, X-linked

Disease Identifiers

MONDO ID

MONDO_0010600

MESH ID

D006105

UMLS CUI

C1844376

OMIM ID

306400

MedGen ID

336165

General Information of Disease (ID: DISNTTS3)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD34	TTZAVYN	Strong	Biomarker	[1]
G6PD	TTKN8W0	Strong	Genetic Variation	[2]
NCF1	TTZ4JC3	Strong	Genetic Variation	[3]
PLN	TTMCVJF	Strong	Biomarker	[4]
CYBB	TT5T8MR	Definitive	X-linked	[5]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC27A5	DT0TQS3	Strong	Genetic Variation	[6]
------------------------------------------------------------------------------------

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYBA	OT16N9ZO	moderate	Genetic Variation	[7]
CYTB	OTAHB98A	moderate	Genetic Variation	[8]
DECR1	OTCDIR6X	moderate	Genetic Variation	[9]
ATN1	OTNZFLKY	Strong	Biomarker	[10]
HBG2	OT4J48JJ	Strong	Biomarker	[11]
NCF2	OTAUW7L2	Strong	Genetic Variation	[3]
NCF4	OTX007YL	Strong	Genetic Variation	[3]
NOX1	OTZPJQCC	Strong	Genetic Variation	[12]
NOX3	OT0FFJH8	Strong	Genetic Variation	[12]
CYBB	OTGSG868	Definitive	X-linked	[5]
------------------------------------------------------------------------------------


⏷ Show the Full List of 10 DOT(s)

References

1	CD133-targeted gene transfer into long-term repopulating hematopoietic stem cells.Mol Ther. 2015 Jan;23(1):63-70. doi: 10.1038/mt.2014.173. Epub 2014 Sep 5.
2	Chronic granulomatous disease and glutathione peroxidase deficiency, revisited.Blood. 1994 Dec 1;84(11):3861-9.
3	Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages.Scand J Immunol. 2019 Feb;89(2):e12737. doi: 10.1111/sji.12737. Epub 2019 Jan 23.
4	The gp91phox component of NADPH oxidase is not the voltage-gated proton channel in phagocytes, but it helps.J Biol Chem. 2001 Sep 28;276(39):36063-6. doi: 10.1074/jbc.C100352200. Epub 2001 Jul 26.
5	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.
6	Kinetics of transfused neutrophils in peripheral blood and BAL fluid of a patient with variant X-linked chronic granulomatous disease.Eur J Haematol. 1991 Oct;47(4):246-52. doi: 10.1111/j.1600-0609.1991.tb01566.x.
7	The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.BMC Med Genet. 2017 Nov 13;18(1):127. doi: 10.1186/s12881-017-0492-6.
8	Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells.Gene. 2012 Apr 10;497(1):110-5. doi: 10.1016/j.gene.2012.01.019. Epub 2012 Jan 28.
9	Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom.J Clin Immunol. 2019 Feb;39(2):195-199. doi: 10.1007/s10875-019-00607-6. Epub 2019 Mar 13.
10	CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease.Sci Transl Med. 2017 Jan 11;9(372):eaah3480. doi: 10.1126/scitranslmed.aah3480.
11	Measurement of methemoglobin formation from oxyhemoglobin. A real-time, continuous assay of nitric oxide release by human polymorphonuclear leukocytes.J Immunol Methods. 1995 Jul 17;184(1):53-62. doi: 10.1016/0022-1759(95)00074-k.
12	NOX4 is the main NADPH oxidase involved in the early stages of hematopoietic differentiation from human induced pluripotent stem cells.Free Radic Biol Med. 2020 Jan;146:107-118. doi: 10.1016/j.freeradbiomed.2019.10.005. Epub 2019 Oct 15.