MCID: TRC038
MIFTS: 27

Tracheobronchomegaly

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Tracheobronchomegaly

MalaCards integrated aliases for Tracheobronchomegaly:

Name: Tracheobronchomegaly 56 74 52 58 71
Congenital Tracheobronchomegaly 58 71
Idiopathic Tracheobronchomegaly 58
Mounier-Kuhn Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
mounier-kuhn syndrome
Inheritance: Not applicable; Age of onset: All ages; Age of death: elderly;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
tracheobronchomegaly:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

OMIM 56 275300
MESH via Orphanet 44 D014137
ICD10 via Orphanet 33 J98.0
UMLS via Orphanet 72 C0040587 C2713583
Orphanet 58 ORPHA3347
MedGen 41 C0040587
SNOMED-CT via HPO 68 12295008 14011008 258211005
UMLS 71 C0040587 C2713583

Summaries for Tracheobronchomegaly

MalaCards based summary : Tracheobronchomegaly, also known as congenital tracheobronchomegaly, is related to mounier-kuhn syndrome and bronchiectasis. Affiliated tissues include trachea, lung and testes, and related phenotypes are recurrent bronchopulmonary infections and recurrent respiratory infections

Wikipedia : 74 Tracheobronchomegaly is a very rare congenital disorder of the lung primarily characterized by an... more...

More information from OMIM: 275300

Related Diseases for Tracheobronchomegaly

Diseases related to Tracheobronchomegaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 mounier-kuhn syndrome 12.3
2 bronchiectasis 10.6
3 pulmonary disease, chronic obstructive 10.5
4 tracheal stenosis 10.5
5 pleomorphic carcinoma 10.5
6 end stage renal disease 10.5
7 syncope 10.5
8 respiratory failure 10.4
9 pulmonary fibrosis 10.4
10 lymphangioleiomyomatosis 10.3
11 spermatogenic failure 3 10.3
12 covid-19 10.3
13 squamous cell carcinoma 10.3
14 malignant fibrous histiocytoma 10.3
15 relapsing polychondritis 10.3
16 spindle cell carcinoma 10.3
17 fibrous histiocytoma 10.3
18 spinal stenosis 10.3
19 vasculitis 10.3
20 amyloidosis aa 10.3
21 laryngocele 10.3
22 head injury 10.3
23 kenny-caffey syndrome 10.3
24 pulmonary tuberculosis 10.3
25 pneumonia 10.3
26 connective tissue disease 10.3
27 amyloidosis 10.3
28 tracheobronchomalacia 10.3
29 mycobacterium tuberculosis 1 10.2
30 tracheomalacia 10.2
31 ehlers-danlos syndrome 10.2
32 pneumothorax 10.2
33 bronchitis 10.2
34 spondyloarthropathy 1 10.0
35 gastroesophageal reflux 10.0
36 fibrosis of extraocular muscles, congenital, 1 10.0
37 diaphragmatic hernia, congenital 10.0
38 pneumothorax, primary spontaneous 10.0
39 pulmonary fibrosis, idiopathic 10.0
40 lung cancer 10.0
41 immune deficiency disease 10.0
42 juvenile arthritis 10.0
43 sleep apnea 10.0
44 ptosis 10.0
45 tracheal cancer 10.0
46 inflammatory spondylopathy 10.0
47 larynx cancer 10.0
48 cutis laxa 10.0
49 aspiration pneumonitis 10.0
50 systemic scleroderma 10.0

Graphical network of the top 20 diseases related to Tracheobronchomegaly:



Diseases related to Tracheobronchomegaly

Symptoms & Phenotypes for Tracheobronchomegaly

Human phenotypes related to Tracheobronchomegaly:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent bronchopulmonary infections 58 31 Very frequent (99-80%) HP:0006538
2 recurrent respiratory infections 58 Very frequent (99-80%)
3 abnormality of the skeletal system 31 HP:0000924
4 abnormality of the respiratory system 58 Very frequent (99-80%)
5 pneumonia 58 Very frequent (99-80%)
6 tracheal stenosis 58 Very frequent (99-80%)
7 bronchiectasis 31 HP:0002110
8 tracheobronchmegaly 58 Very frequent (99-80%)
9 bronchitis 58 Very frequent (99-80%)
10 diverticulosis of trachea 31 HP:0006509

Symptoms via clinical synopsis from OMIM:

56
Misc:
death in infancy

Radiology:
musculomembranous tissue projects like corrugations between tracheal cartilaginous rings

Pulmonary:
bronchiectasis
diverticulosis of trachea
trachiectasis
bronchopulmonary infection

Clinical features from OMIM:

275300

Drugs & Therapeutics for Tracheobronchomegaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Presence of Airway Collapse in Patients With Mounier-Kuhn Syndrome and Titration With Continuous Positive Pressure Through Non-invasive Mechanical Ventilation to Reduce Collapse Unknown status NCT03101059

Search NIH Clinical Center for Tracheobronchomegaly

Genetic Tests for Tracheobronchomegaly

Anatomical Context for Tracheobronchomegaly

MalaCards organs/tissues related to Tracheobronchomegaly:

40
Trachea, Lung, Testes

Publications for Tracheobronchomegaly

Articles related to Tracheobronchomegaly:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Tracheobronchiomegaly. 56
5924804 1966
2
TRACHEOBRONCHIOMEGALY. REPORT OF FIVE CASES AND DEMONSTRATION OF FAMILIAL OCCURRENCE. 56
14259999 1965
3
Tracheobronchoplasty after a trial with a silicone Y-stent in a patient with Mounier-Kuhn syndrome. 61
31747002 2020
4
The effect of ankaferd blood stopper used for massive haemoptysis in a patient with mounier-kuhn syndrome: A case report. 61
32296224 2020
5
Echocardiographic appearance of a rare condition - tracheobronchomegaly. 61
32446533 2020
6
An Unusual Cause of Spontaneous Pneumomediastinum: The Mounier-Kuhn Syndrome. 61
31360573 2019
7
Mounier Kuhn syndrome presenting with recurrent atelectasis. 61
28891754 2018
8
Mounier-Kuhn syndrome (tracheobronchomegaly): An analysis of eleven cases. 61
28026118 2018
9
Tracheobronchomegaly in Intubated Ventilation of ARDS. 61
28734804 2018
10
Mounier-Kuhn Syndrome Mimicking Lymphangioleiomyomatosis. 61
29406234 2018
11
Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly. 61
29261580 2018
12
Computed tomography airway lumen volumetry in patients with acromegaly: Association with growth hormone levels and lung function. 61
28217888 2017
13
A case of tracheobronchomegaly. 61
28109701 2017
14
First Case Report of Metastatic Squamous Cell Carcinoma of Lung Associated with Mounier-Kuhn Syndrome and Review of Literature. 61
28845373 2017
15
Congenital Tracheobronchomegaly (Mounier-Kuhn Syndrome) in a Woman with Human Immunodeficiency Virus: A Case Report. 61
28480154 2017
16
Anesthesia for a patient with unexpected giant tracheobronchomegaly. 61
28757767 2017
17
Tracheobronchomegaly associated with laryngo-tracheal amyloidosis: First case report. 61
26791590 2016
18
IMAGES IN CLINICAL MEDICINE. Tracheobronchomegaly. 61
27007971 2016
19
Tracheobronchomegaly as a Cause of Bronchiectasis in an Adult. 61
27022496 2016
20
An unusual cause of recurrent spontaneous pneumothorax: the Mounier-Kuhn syndrome. 61
26127019 2016
21
Respiratory Conditions Associated with Tracheobronchomegaly (Mounier-Kuhn Syndrome): A Study of Seventeen Cases. 61
27022925 2016
22
Mounier-Kuhn Syndrome in an Elderly Female with Pulmonary Fibrosis. 61
27597867 2016
23
Huge Tracheal Diverticulum in a Patient with Mounier-Kuhn Syndrome. 61
30755880 2016
24
Primary tracheobronchial amyloidosis associated with tracheobronchomegaly evaluated by novel four-dimensional functional CT. 61
26740884 2015
25
A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome). 61
26189148 2015
26
Coincidence of Tracheobronchomegaly (Mounier-Kuhn Syndrome) and Juvenile Idiopathic Arthritis. 61
26038962 2015
27
[Tracheobronchial prosthesis in Mounier-Kuhn syndrome: New perspectives]. 61
25737189 2015
28
Computed tomography findings of tracheobronchial system diseases: a pictorial essay. 61
25504056 2015
29
Computed tomography correlation of airway disease with bronchoscopy: part I--nonneoplastic large airway diseases. 61
24947529 2014
30
A delayed diagnosis of Mounier-Kuhn syndrome. 61
24891495 2014
31
Are airways structural abnormalities more frequent in children with recurrent lower respiratory tract infections? 61
24709380 2014
32
Mounier-Kuhn syndrome. 61
24739689 2014
33
A grossly abnormal trachea- severe tracheal diverticulosis and Mounier-Kuhn syndrome. 61
24757893 2014
34
Mounier-Kuhn syndrome masquerading pulmonary thromboembolism in an elderly male. 61
24669091 2014
35
Mounier-Kuhn syndrome or congenital tracheobronchomegaly: a literature review. 61
24070565 2013
36
A child with progressive multiple tracheal diverticulae: a variation of the Mounier-Kuhn syndrome. 61
22949127 2013
37
A young woman with recurrent lower respiratory tract infection. 61
23328140 2013
38
[Case report: respiratory infection due to Alcaligenes xylosoxidans in a patient with Mounier-Kuhn syndrome]. 61
23282506 2012
39
Tracheobronchomegaly following intrauterine tracheal occlusion for congenital diaphragmatic hernia. 61
22644455 2012
40
Mounier-Kuhn syndrome and bilateral vocal cord paralysis. 61
23207474 2012
41
Dyspnea in a patient with Mounier-Kuhn syndrome. 61
23207360 2012
42
A 46-year-old man with tracheomegaly, tracheal diverticulosis, and bronchiectasis: Mounier-Kuhn syndrome. 61
22628937 2012
43
Mounier-kuhn syndrome: anesthetic experience. 61
22606408 2012
44
[Mounier-Kuhn syndrome]. 61
22352270 2011
45
Airway stenting and tracheobronchoplasty improve respiratory symptoms in Mounier-Kuhn syndrome. 61
21493699 2011
46
[Tracheobronchomegaly: a report of 3 cases and literature review]. 61
22168983 2011
47
Anesthetic management of a patient with Mounier-Kuhn syndrome undergoing off-pump coronary artery bypass graft surgery -A case report-. 61
21860757 2011
48
Endoscopic successful management of tracheobronchomalacia with laser: apropos of a Mounier-Kuhn syndrome. 61
21382725 2011
49
Tracheobronchomegaly: a rare cause of endotracheal tube cuff leak. 61
21270631 2011
50
An unusual cause of spontaneous pneumothorax: the Mounier-Kuhn syndrome. 61
21736094 2011

Variations for Tracheobronchomegaly

Expression for Tracheobronchomegaly

Search GEO for disease gene expression data for Tracheobronchomegaly.

Pathways for Tracheobronchomegaly

GO Terms for Tracheobronchomegaly

Sources for Tracheobronchomegaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....