Warning: The NCBI web site requires JavaScript to function. more...

MedGen

National Center for Biotechnology Information

Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Bronchiectasis with or without elevated sweat chloride 2(BESC2)

MedGen UID:: 414437
•Concept ID:: C2751666
•: Disease or Syndrome

Synonym:	BESC2

Gene (location): Gene(s) directly associated with this condition or phenotype.	SCNN1A (12p13.31)

Monarch Initiative:	MONDO:0013087
OMIM®:	613021

Definition

Patients with bronchiectasis with or without elevated sweat chloride-2 (BESC2) have bronchiectasis and chronic bronchitis of varying severity. Pancreatic insufficiency may be present (Azad et al., 2009). For discussion of genetic heterogeneity in bronchiectasis with or without elevated sweat chloride, see BESC1 (211400). [from OMIM]

Clinical features

From HPO

Abnormality of exocrine pancreas physiology

MedGen UID:: 866753
•Concept ID:: C4021103
•: Pathologic Function

A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.

See: Feature record | Search on this feature

Bronchiectasis

MedGen UID:: 14234
•Concept ID:: C0006267
•: Disease or Syndrome

Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.

See: Feature record | Search on this feature

Chronic bronchitis

MedGen UID:: 3084
•Concept ID:: C0008677
•: Disease or Syndrome

Chronic inflammation of the bronchi.

See: Feature record | Search on this feature

Recurrent bronchiolitis

MedGen UID:: 863573
•Concept ID:: C4015136
•: Finding

An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.

See: Feature record | Search on this feature

Hyperpolarized transepithelial nasal potential difference

MedGen UID:: 1052818
•Concept ID:: CN376612
•: Finding

Increased (more negative) voltage across the nasal epithelium.

See: Feature record | Search on this feature

Elevated sweat chloride

MedGen UID:: 347278
•Concept ID:: C1856646
•: Finding

An increased concentration of chloride in the sweat.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of metabolism/homeostasis
- Elevated sweat chloride
Abnormality of the digestive system
- Abnormality of exocrine pancreas physiology
Abnormality of the respiratory system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVChronic obstructive pulmonary disease
- CROGVBronchiectasis
  - Idiopathic bronchiectasis
    - CROGVBronchiectasis with or without elevated sweat chloride 1
    - CROGVBronchiectasis with or without elevated sweat chloride 2
    - CROGVBronchiectasis with or without elevated sweat chloride 3
- CROGVChronic bronchitis
- CROGVCOPD, severe early onset
- CROGVDiffuse panbronchiolitis
- CROGVEmphysema
  - CROGVCompensatory emphysema
  - CROGVCongenital lobar emphysema
  - CROGVEmphysema, hereditary pulmonary
  - CROGVHyperlucent lung
  - CROGVInterstitial emphysema

Abnormal respiratory system physiology
- Abnormal respiratory system morphology
  - Abnormal tracheobronchial morphology
    - Abnormal bronchus morphology
      - Bronchiectasis
        Idiopathic bronchiectasis
        Bronchiectasis with or without elevated sweat chloride 2

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

ClinVar
Related medical variations
Gene
Related information in NCBI Gene
GTR
Related information in GTR
GTR(Clinical)
Clinical tests in GTR
MeSH
Related Medical Subject Headings
OMIM
Related records in OMIM
OMIM(Genes)
OMIM records containing genes associated with phenotypes registered in MedGen
PMC Articles
Related information in PubMed Central Links
PubMed
Related literature resources in PubMed
PubMed (OMIM)
Related literature resources in PubMed

Recent activity

Clear Turn Off Turn On

Bronchiectasis with or without elevated sweat chloride 2
Bronchiectasis with or without elevated sweat chloride 2

MedGen
C2751666[conceptid] (1)
MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...