Details of Disease

General Information of Disease (ID: DISZ7YNI)

Disease Name Idiopathic bronchiectasis
Definition
Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).
Disease Hierarchy
DIS5MYEE: Bronchiectasis
DISBBY0S: Idiopathic disease
DISZ7YNI: Idiopathic bronchiectasis
Disease Identifiers
MONDO ID
MONDO_0018956
UMLS CUI
C0339985
MedGen ID
573462
Orphanet ID
60033
SNOMED CT ID
233629001

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
CFTR TTRLZHP moderate Genetic Variation [1]
SLC26A9 TTKRVU0 Strong Genetic Variation [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCNN1A OTE2KVZV Strong GermlineCausalMutation [3]
SCNN1B OT61QQTL Strong GermlineCausalMutation [4]
SCNN1G OTSJYQVQ Strong GermlineCausalMutation [4]
RSPH1 OT3MR73R Definitive Genetic Variation [5]
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References

1 Should diffuse bronchiectasis still be considered a CFTR-related disorder?.J Cyst Fibros. 2015 Sep;14(5):646-53. doi: 10.1016/j.jcf.2015.02.012. Epub 2015 Mar 18.
2 Characterization of SLC26A9 in patients with CF-like lung disease.Hum Mutat. 2013 Oct;34(10):1404-14. doi: 10.1002/humu.22382. Epub 2013 Aug 13.
3 Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.Hum Mutat. 2009 Jul;30(7):1093-103. doi: 10.1002/humu.21011.
4 Recommendations for the classification of diseases as CFTR-related disorders.J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3.
5 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC.