Bronchiectasis with or without elevated sweat chloride 3

Preferred Label : Bronchiectasis with or without elevated sweat chloride 3;

Symbol : BESC3;

CISMeF acronym : BESC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cystic fibrosis-like syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, nonvoltage-gated 1, gamma gene (SCNN1G, 600761.0005);

Laboratory abnormalities : Normal sweat chloride (3 of 3 patients); Increased nasal-potential difference (1 of 3 patients);

Prefixed ID : #613071;

Details

Origin ID

613071;

UMLS CUI

C2751324;

Currated CISMeF NLP mapping
- bronchiectasis with or without elevated sweat chloride 3 [MeSH concept]
- bronchiectasis with or without elevated sweat chloride 3 [MeSH Supplementary Concept]
DO Cross reference
- bronchiectasis [DO Concept]
- bronchiectasis 3 [DO Concept]
Genes related to phenotype
- Sodium channel, epithelial 1, gamma subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic bronchitis [HPO term]
NCIt concept(s)
- Zinc Finger Protein Ubi-D4 [NCIt concept]
ORDO concept(s)
- Idiopathic bronchiectasis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- bronchiectasis with or without elevated sweat chloride 3 [MeSH Supplementary Concept]
- bronchiectasis with or without elevated sweat chloride 3 [MeSH concept]
Validated automatic mappings to NTBT
- Idiopathic bronchiectasis [ORDO Disease]

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