Bronchiectasis with or Without Elevated Sweat Chloride 1 (BESC1)

Alias:
Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of
Cystic Fibrosis-Like Syndrome
Besc1
Bronchiectasis, with/without Elevated Sweat Chloride, Type 1, Modifier of
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bronchiectasis with or Without Elevated Sweat Chloride 1, also known as cystic fibrosis-like syndrome, is related to liddle syndrome 1 and pseudohypoaldosteronism. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 1 is SCNN1B (Sodium Channel Epithelial 1 Subunit Beta), and among its related pathways/superpathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and NO-dependent CFTR activation (normal and CF). Affiliated tissues include lung and pancreas, and related phenotypes are elevated sweat chloride and bronchiectasis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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2
31
36

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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