You are using an outdated browser. Please upgrade your browser to improve your experience.

bronchiectasis with or without elevated sweat chloride 3

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.
Uniprot Description A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.
Mondo Term and Equivalent IDs
MONDO:0013112:  bronchiectasis with or without elevated sweat chloride 3
DOID:0080528: 
MESH:C567772: 
UMLS:C2751324: