Details of Disease | DrugMAP

General Information of Disease (ID: DISFZU2Y)

Disease Name	Bronchiectasis with or without elevated sweat chloride 3
Synonyms	BESC3; cystic fibrosis-like syndrome; SCNN1G bronchiectasis; bronchiectasis with or without elevated sweat chloride type 3; bronchiectasis with or without elevated sweat chloride 3; bronchiectasis caused by mutation in SCNN1G
Definition	Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.
Disease Hierarchy	DISZ7YNI: Idiopathic bronchiectasis DIS5MYEE: Bronchiectasis DISFZU2Y: Bronchiectasis with or without elevated sweat chloride 3
Disease Identifiers	MONDO ID MONDO_0013112 MESH ID C567772 UMLS CUI C2751324 OMIM ID 613071 MedGen ID 414351

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CA12	TTSYM0R	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCNN1G	OTSJYQVQ	Strong	Autosomal dominant	[2]
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References

1	Carbonic anhydrase XII functions in health and disease.Gene. 2017 Aug 5;623:33-40. doi: 10.1016/j.gene.2017.04.027. Epub 2017 Apr 19.
2	PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.