Details of Disease

General Information of Disease (ID: DISFFTJU)

Disease Name Bronchiectasis with or without elevated sweat chloride 2
Synonyms
BESC2; cystic fibrosis-like syndrome; bronchiectasis with or without elevated sweat chloride type 2; SCNN1A bronchiectasis; bronchiectasis caused by mutation in SCNN1A; bronchiectasis with or without elevated sweat chloride 2
Definition Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.
Disease Hierarchy
DISZ7YNI: Idiopathic bronchiectasis
DIS5MYEE: Bronchiectasis
DISFFTJU: Bronchiectasis with or without elevated sweat chloride 2
Disease Identifiers
MONDO ID
MONDO_0013087
UMLS CUI
C2751666
OMIM ID
613021
MedGen ID
414437

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
SCNN1A OTE2KVZV 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 Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways. Histochem Cell Biol. 2012 Mar;137(3):339-53. doi: 10.1007/s00418-011-0904-1. Epub 2011 Dec 30.