Tracheobronchomegaly

General Information (adopted from Orphanet):

Synonyms, Signs: Mounier-Kuhn syndrome
Number of Symptoms 12
OrphanetNr: 3347
OMIM Id: 275300
ICD-10: J98.0
UMLs: C0040587
MeSH: D014137
MedDRA: 10044316
Snomed: 57451009

Prevalence, inheritance and age of onset:

Prevalence: > 300 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare respiratory disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
2
 (HPO:0012252) Abnormal respiratory system morphology Very frequent [Orphanet] 14 / 7739
3
 (HPO:0006538) Recurrent bronchopulmonary infections 6 / 7739
4
 (HPO:0006509) Diverticulosis of trachea 1 / 7739
5
 (HPO:0002777) Tracheal stenosis Very frequent [Orphanet] 35 / 7739
6
 (HPO:0002110) Bronchiectasis 73 / 7739
7
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
8
 (OMIM) Bronchopulmonary infection 1 / 7739
9
 (HPO:0001522) Death in infancy 275 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) Trachiectasis 1 / 7739
12
 (OMIM) Musculomembranous tissue projects like corrugations between tracheal cartilaginous rings 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: