Details of Disease

General Information of Disease (ID: DIS5MYEE)

Disease Name	Bronchiectasis
Synonyms	Polynesian bronchiectasis
Disease Class	CA24: Bronchiectasis
Definition	Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection.
Disease Hierarchy	DISYKSRF: Genetic disease DISQCIRF: Chronic obstructive pulmonary disease DISCZT2B: Bronchial disorder DIS5MYEE: Bronchiectasis
ICD Code	ICD-11 ICD-11: CA24 ICD-10 ICD-10: J47 Expand ICD-11 'CA24 Expand ICD-10 'J47 Expand ICD-9 494748.61
Disease Identifiers	MONDO ID MONDO_0004822 MESH ID D001987 UMLS CUI C0006267 MedGen ID 14234 HPO ID HP:0002110 SNOMED CT ID 12295008

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 6 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Acetylcysteine	DMWSXI4	Approved	Small molecular drug	[1]
Cysteine Hydrochloride	DM5ONA9	Approved	Small molecular drug	[2]
Epinephrine	DM3KJBC	Approved	Small molecular drug	[3]
Mannitol	DMSCDY9	Approved	Small molecular drug	[4]
Norepinephrine	DMOUC09	Approved	Small molecular drug	[5]
Pirbuterol	DMI5678	Approved	Small molecular drug	[6]
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This Disease is Treated as An Indication in 7 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Ampion	DMPVO0R	Phase 3	NA	[7]
ARD-3150	DMK46DE	Phase 3	NA	[8]
Liposomal amikacin	DMRJ1HC	Phase 3	NA	[8]
AZD9668	DMB87M3	Phase 2	Small molecular drug	[9]
BAY 85-8501	DMCPUKG	Phase 2	NA	[10]
GSK2793660	DMSGNVK	Phase 1	NA	[11]
L-cysteine	DMCMOS8	Clinical trial	Small molecular drug	[12]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ELANE	TTPLTSQ	Limited	Biomarker	[13]
SGCA	TTS9Q5V	Limited	Biomarker	[14]
CFI	TT6ATLX	Strong	Biomarker	[15]
ICAM1	TTA1L39	Strong	Biomarker	[16]
NFKB2	TTKLNRV	Strong	Biomarker	[17]
PIK3CD	TTGBPJE	Strong	Biomarker	[18]
RGMA	TTURJV4	Strong	Biomarker	[19]
SLC26A9	TTKRVU0	Strong	Biomarker	[20]
STAT1	TTN7R6K	Strong	Genetic Variation	[21]
TAP1	TT7JZI8	Strong	Biomarker	[22]
TNFRSF13B	TTL9OD4	Strong	Genetic Variation	[23]
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⏷ Show the Full List of 11 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC27A5	DT0TQS3	Strong	Biomarker	[24]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
G6PC3	DEE1B8O	Strong	Genetic Variation	[25]
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This Disease Is Related to 20 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PCBD1	OTDSRUD5	Limited	Biomarker	[26]
TRAF3IP2	OTLLZERL	Limited	Genetic Variation	[27]
DIAPH1	OTZBYPLH	moderate	Genetic Variation	[28]
ARHGEF1	OTXU4HBW	Strong	Altered Expression	[29]
DNAAF3	OT3OHO0O	Strong	Biomarker	[26]
DNAH11	OT6IYFVV	Strong	Biomarker	[30]
DNAH5	OTC21RUS	Strong	Biomarker	[26]
DNAI1	OTF6C65Q	Strong	Biomarker	[26]
FOXJ1	OT7LLBZ7	Strong	Biomarker	[31]
JMJD6	OTILR7E4	Strong	Altered Expression	[32]
LCN1	OT8BWXTV	Strong	Biomarker	[33]
MUC5B	OTPW6K5C	Strong	Genetic Variation	[34]
NTM	OTHF0UQU	Strong	Biomarker	[35]
NXF1	OTEFHXG6	Strong	Biomarker	[22]
PIK3R1	OT5BZ1J9	Strong	Biomarker	[18]
RSPH4A	OTNDPGEE	Strong	Biomarker	[36]
SCNN1B	OT61QQTL	Strong	Biomarker	[37]
SCNN1G	OTSJYQVQ	Strong	Genetic Variation	[38]
SEC14L2	OTJST64D	Strong	Biomarker	[22]
TAP2	OTWSYFI7	Strong	Biomarker	[22]
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⏷ Show the Full List of 20 DOT(s)

References

1	Acetylcysteine FDA Label
2	Cysteine Hydrochloride FDA Label
3	Epinephrine FDA Label
4	FDA Approved Drug Products from FDA Official Website. 2009. Application Number: (NDA) 016080.
5	Norepinephrine FDA Label
6	Pirbuterol FDA Label
7	ClinicalTrials.gov (NCT01839331) A Efficacy and Safety Study of Two Doses of Intra-Articular Injection of Ampion in Adults With Pain Due to Osteoarthritis of the Knee. U.S. National Institutes of Health.
8	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
9	ClinicalTrials.gov (NCT00769119) A Phase II , Placebo-controlled Study to Assess Efficacy of 28 Day Oral AZD9668 in Patients With Bronchiectasis (NEPAL). U.S. National Institutes of Health.
10	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800037600)
11	ClinicalTrials.gov (NCT02058407) A Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK), Pharmacodynamics (PD) and Food Effect of Single or Repeat Doses of GSK2793660 in Healthy Subjects. U.S. National Institutes of Health.
12	Safety of N-Acetylcysteine at High Doses in Chronic Respiratory Diseases: A Review. Drug Saf. 2021 Mar;44(3):273-290.
13	Safety and efficacy of the human neutrophil elastase inhibitor BAY 85-8501 for the treatment of non-cystic fibrosis bronchiectasis: A randomized controlled trial.Pulm Pharmacol Ther. 2019 Jun;56:86-93. doi: 10.1016/j.pupt.2019.03.009. Epub 2019 Mar 24.
14	Cardiorespiratory Responses to Glittre ADL Test in Bronchiectasis: A Cross-Sectional Study.Can Respir J. 2018 Dec 17;2018:7470387. doi: 10.1155/2018/7470387. eCollection 2018.
15	C3b inactivator deficiency with immune complex manifestations.Clin Exp Immunol. 1982 Jan;47(1):197-205.
16	Upregulation of ICAM-1 expression in bronchial epithelial cells by airway secretions in bronchiectasis. Respir Med. 2008 Feb;102(2):287-98. doi: 10.1016/j.rmed.2007.08.013. Epub 2007 Oct 10.
17	Haploinsufficiency of the NF-B1 Subunit p50 in Common Variable Immunodeficiency. Am J Hum Genet. 2015 Sep 3;97(3):389-403. doi: 10.1016/j.ajhg.2015.07.008. Epub 2015 Aug 13.
18	Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome.Front Immunol. 2018 Mar 5;9:338. doi: 10.3389/fimmu.2018.00338. eCollection 2018.
19	An evaluation of methods for the isolation of nontuberculous mycobacteria from patients with cystic fibrosis, bronchiectasis and patients assessed for lung transplantation.BMC Pulm Med. 2019 Jan 21;19(1):19. doi: 10.1186/s12890-019-0781-2.
20	Role of the SLC26A9 Chloride Channel as Disease Modifier and Potential Therapeutic Target in Cystic Fibrosis. Front Pharmacol. 2018 Oct 1;9:1112.
21	Impaired STAT3-Dependent Upregulation of IL2R in B Cells of a Patient With a STAT1 Gain-of-Function Mutation.Front Immunol. 2019 Apr 24;10:768. doi: 10.3389/fimmu.2019.00768. eCollection 2019.
22	Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline. J Hum Genet. 2011 Sep;56(9):652-9. doi: 10.1038/jhg.2011.75. Epub 2011 Jul 28.
23	Common variable immunodeficiency and autoimmunity--an inconvenient truth.Autoimmun Rev. 2014 Aug;13(8):858-64. doi: 10.1016/j.autrev.2014.04.006. Epub 2014 Apr 18.
24	Elastase Exocytosis by Airway Neutrophils Is Associated with Early Lung Damage in Children with Cystic Fibrosis.Am J Respir Crit Care Med. 2019 Apr 1;199(7):873-881. doi: 10.1164/rccm.201803-0442OC.
25	G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.J Pediatr Hematol Oncol. 2015 Nov;37(8):616-22. doi: 10.1097/MPH.0000000000000441.
26	Predicting factors for chronic colonization of Pseudomonas aeruginosa in bronchiectasis.Eur J Clin Microbiol Infect Dis. 2019 Dec;38(12):2299-2304. doi: 10.1007/s10096-019-03675-z. Epub 2019 Aug 31.
27	Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2.J Clin Immunol. 2019 Aug;39(6):596-599. doi: 10.1007/s10875-019-00664-x. Epub 2019 Jul 10.
28	Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.Am J Med Genet A. 2016 Feb;170A(2):435-440. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13.
29	Loss of ARHGEF1 causes a human primary antibody deficiency.J Clin Invest. 2019 Mar 1;129(3):1047-1060. doi: 10.1172/JCI120572. Epub 2019 Feb 4.
30	Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.
31	No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).Cytogenet Cell Genet. 2000;90(1-2):119-22. doi: 10.1159/000015645.
32	Elastase-mediated phosphatidylserine receptor cleavage impairs apoptotic cell clearance in cystic fibrosis and bronchiectasis.J Clin Invest. 2002 Mar;109(5):661-70. doi: 10.1172/JCI13572.
33	Residual volume/total lung capacity ratio confers limited additive significance to lung clearance index for assessment of adults with bronchiectasis.PLoS One. 2017 Sep 8;12(9):e0183779. doi: 10.1371/journal.pone.0183779. eCollection 2017.
34	Airway Mucus Hyperconcentration in Non-Cystic Fibrosis Bronchiectasis.Am J Respir Crit Care Med. 2020 Mar 15;201(6):661-670. doi: 10.1164/rccm.201906-1219OC.
35	US Patient-Centered Research Priorities and Roadmap for Bronchiectasis.Chest. 2018 Nov;154(5):1016-1023. doi: 10.1016/j.chest.2018.06.032. Epub 2018 Jul 5.
36	RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11.
37	Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.Clin Genet. 2014 Jul;86(1):91-5. doi: 10.1111/cge.12234. Epub 2013 Jul 28.
38	Could a defective epithelial sodium channel lead to bronchiectasis.Respir Res. 2008 May 28;9(1):46. doi: 10.1186/1465-9921-9-46.