Bronchiectasis with or without elevated sweat chloride 1

Preferred Label : Bronchiectasis with or without elevated sweat chloride 1;

Symbol : BESC1;

CISMeF acronym : BESC1;

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, beta gene (SCNN1B, 600760.0009);

Laboratory abnormalities : Elevated sweat chloride (some); Increased nasal-potential difference (some); Normal exocrine pancreatic function;

Prefixed ID : #211400;

Détails

Origin ID

211400;

UMLS CUI

C2749757;

Currated CISMeF NLP mapping
- bronchiectasis 1 [DO Concept]
- bronchiectasis with or without elevated sweat chloride 1 [MeSH concept]
- bronchiectasis with or without elevated sweat chloride 1 [MeSH Supplementary Concept]
DO Cross reference
- bronchiectasis [DO Concept]
- bronchiectasis 1 [DO Concept]
Genes related to phenotype
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
- Sodium channel, epithelial 1, beta subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic bronchitis [HPO term]
- Elevated sweat chloride [HPO term]
Not associated HPO term(s)
- Abnormality of exocrine pancreas physiology [HPO term]
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 1 [MeSH Supplementary Concept]
- bronchiectasis with or without elevated sweat chloride 1 [MeSH concept]
Validated automatic mappings to NTBT
- Idiopathic bronchiectasis [ORDO Disease]
- Idiopathic bronchiectasis (disorder) [SNOMED CT concept]
- bronchiectasis [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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