BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

General Information (adopted from Orphanet):

Synonyms, Signs: CYSTIC FIBROSIS-LIKE SYNDROME
BESC1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 211400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004469) Chronic bronchitis 17 / 7739
2
(HPO:0012236) Elevated sweat chloride 5 / 7739
3
(HPO:0002110) Bronchiectasis 73 / 7739
4
(OMIM) Normal exocrine pancreatic function 2 / 7739
5
(OMIM) Increased nasal-potential difference (1 of 3 patients) 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Danielson et al. (1967) found 4 of 5 sibs (2 male, 2 female) affected with bronchiectasis of the middle lobe. Hoo (1979) observed middle lobe bronchiectasis in a brother and sister from a sibship of 7. Bronchiectasis was ...
Molecular genetics OMIM In a cohort of 55 adult patients with bronchiectasis of unknown etiology, Casals et al. (2004) performed analysis of the CFTR gene (602421), which is mutant in classic cystic fibrosis (219700). The results suggested the involvement of the ...