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Bronchiectasis with or Without Elevated Sweat Chloride 1 (BESC1)
Alias:
Cystic Fibrosis-Like Syndrome
|
Besc1
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bronchiectasis with or without elevated sweat chloride-1 (BESC1) is a respiratory disease characterized by chronic bronchial inflammation leading to airway dilation. Symptoms include chronic cough, purulent sputum, and recurrent respiratory infections. The severity varies, with some patients having normal respiratory function in adulthood. It is a debilitating condition with features similar to cystic fibrosis but without known causes like autoimmune diseases or ciliary dyskinesia. Clinical manifestations include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride levels in some cases.
Related ID:
MALACARDS: BRN076
|
OMIM: 211400
|
MESH: D001987
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
AD
Autosomal dominant
Unknown
--
16
95
9
BRN076
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed
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