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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

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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

Professional guidelines

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Diagnosis

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MedGen

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Bronchiectasis with or without elevated sweat chloride 2(BESC2)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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