BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3

General Information (adopted from Orphanet):

Synonyms, Signs: CYSTIC FIBROSIS-LIKE SYNDROME
BESC3
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613071
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:0002110) Bronchiectasis 73 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Normal sweat chloride (3 of 3 patients) 1 / 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:

Molecular genetics OMIM Fajac et al. (2008) screened the SCNN1G gene in 55 patients with idiopathic bronchiectasis who had 1 or no mutations in the CFTR gene (602421) and identified heterozygosity for 2 missense mutations in 3 patients without mutation in ...