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MCID: MNR004
MIFTS: 23

Mounier-Kuhn Syndrome

Categories: Rare diseases, Respiratory diseases
Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Mounier-Kuhn Syndrome

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MalaCards integrated aliases for Mounier-Kuhn Syndrome:

Name: Mounier-Kuhn Syndrome 52
Congenital Tracheobronchomegaly 52 71
Mounier Kuhn Syndrome 52
Tracheobronchomegaly 71

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Respiratory diseases
See all MalaCards categories (disease lists)


External Ids:

SNOMED-CT via HPO 68 11296007 233604007 32398004
UMLS 71 C0040587 C2713583
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Summaries for Mounier-Kuhn Syndrome

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NIH Rare Diseases : 52 Mounier-Kuhn syndrome is a lung disorder that causes the respiratory tract to dilate or enlarge. People with this condition develop frequent respiratory tract infections and recurrent cough. The condition can be diagnosed by lung function tests , bronchoscopy , and a chest CT scan . The cause of Mounier-Kuhn syndrome is unknown, although cigarette smoke and air pollutants may act as irritating factors. Some cases are associated with connective tissue diseases such as Ehlers-Danlos syndrome , Marfan syndrome , and cutis laxa and may be inherited . Treatment typically involves chest physical therapy and antibiotics to treat infections.

MalaCards based summary : Mounier-Kuhn Syndrome, also known as congenital tracheobronchomegaly, is related to tracheobronchomegaly and bronchiectasis. Affiliated tissues include lung, trachea and testes, and related phenotypes are pneumonia and tracheal stenosis

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

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Related Diseases for Mounier-Kuhn Syndrome

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Diseases related to Mounier-Kuhn Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 tracheobronchomegaly 12.1
2 bronchiectasis 11.1
3 respiratory failure 10.8
4 pulmonary fibrosis 10.8
5 tracheomalacia 10.7
6 bronchitis 10.7
7 pneumothorax 10.6
8 tracheobronchomalacia 10.6
9 pneumothorax, primary spontaneous 10.5
10 pulmonary disease, chronic obstructive 10.5
11 sleep apnea 10.5
12 tracheal stenosis 10.5
13 pleomorphic carcinoma 10.5
14 connective tissue disease 10.5
15 end stage renal disease 10.5
16 syncope 10.5
17 gastroesophageal reflux 10.3
18 fibrosis of extraocular muscles, congenital, 1 10.3
19 immune deficiency disease 10.3
20 lymphangioleiomyomatosis 10.3
21 spermatogenic failure 3 10.3
22 juvenile arthritis 10.3
23 ptosis 10.3
24 covid-19 10.3
25 squamous cell carcinoma 10.3
26 malignant fibrous histiocytoma 10.3
27 relapsing polychondritis 10.3
28 larynx cancer 10.3
29 pulmonary tuberculosis 10.3
30 cutis laxa 10.3
31 aspiration pneumonitis 10.3
32 spindle cell carcinoma 10.3
33 systemic scleroderma 10.3
34 fibrous histiocytoma 10.3
35 pneumonia 10.3
36 spinal stenosis 10.3
37 juvenile rheumatoid arthritis 10.3
38 arthritis 10.3
39 vasculitis 10.3
40 amyloidosis 10.3
41 amyloidosis aa 10.3
42 laryngocele 10.3
43 head injury 10.3
44 kenny-caffey syndrome 10.3

Graphical network of the top 20 diseases related to Mounier-Kuhn Syndrome:



Diseases related to Mounier-Kuhn Syndrome
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Symptoms & Phenotypes for Mounier-Kuhn Syndrome

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Human phenotypes related to Mounier-Kuhn Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 pneumonia 31 hallmark (90%) HP:0002090
2 tracheal stenosis 31 hallmark (90%) HP:0002777
3 recurrent bronchopulmonary infections 31 hallmark (90%) HP:0006538
4 tracheobronchmegaly 31 hallmark (90%) HP:0010776
5 bronchitis 31 hallmark (90%) HP:0012387
Sources

Drugs & Therapeutics for Mounier-Kuhn Syndrome

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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 Mounier-Kuhn Syndrome

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Genetic Tests for Mounier-Kuhn Syndrome

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Anatomical Context for Mounier-Kuhn Syndrome

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MalaCards organs/tissues related to Mounier-Kuhn Syndrome:

40
Lung, Trachea, Testes, Smooth Muscle
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Publications for Mounier-Kuhn Syndrome

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Articles related to Mounier-Kuhn Syndrome:

(show top 50) (show all 166)
# Title Authors PMID Year
1
Tracheobronchoplasty after a trial with a silicone Y-stent in a patient with Mounier-Kuhn syndrome. 61
31747002 2020
2
Early manifestation of ARDS in COVID-19 infection in a 51- year-old man affected by Mounier-Kuhn Syndrome. 61
32425272 2020
3
The effect of ankaferd blood stopper used for massive haemoptysis in a patient with mounier-kuhn syndrome: A case report. 61
32296224 2020
4
Recurrent Pneumonias in a Previously Healthy and Immunocompetent Young Adult: A Case Report Mounier-Kuhn Syndrome. 61
32036382 2020
5
[Mounier-Kuhn syndrome]. 61
31076098 2020
6
Mounier-Kuhn Syndrome. 61
30777312 2019
7
Airway management of a patient incidentally diagnosed with Mounier-Kuhn syndrome during general anesthesia. 61
31723671 2019
8
Orphan Lung Diseases. 61
30955517 2019
9
Mounier-Kuhn syndrome: an unusual cause of bronchiectasis. 61
31019346 2019
10
Mounier-Kuhn syndrome. 61
31565119 2019
11
Volume Measurement in the Diagnosis of Mounier Kuhn Syndrome and an Unknown Accompanying Pathology: Pulmonary Artery Enlargement. 61
32008547 2019
12
An Unusual Cause of Spontaneous Pneumomediastinum: The Mounier-Kuhn Syndrome. 61
31360573 2019
13
Mounier Kuhn syndrome presenting with recurrent atelectasis. 61
28891754 2018
14
An unusual cause of bronchial dilation: Mounier-Kuhn syndrome. 61
29894236 2018
15
Flexible bronchoscopy and mechanical ventilation in managing Mounier-Kuhn syndrome: a case report. 61
28443953 2018
16
Mounier-Kuhn syndrome (tracheobronchomegaly): An analysis of eleven cases. 61
28026118 2018
17
Mounier-Kuhn Syndrome Mimicking Lymphangioleiomyomatosis. 61
29406234 2018
18
Tracheal enlargement or Mounier-Kuhn syndrome in giant cell arteritis: a possible causal association with therapeutic implications. 61
30173269 2018
19
Mounier-Kuhn syndrome. 61
28596443 2017
20
Dural ectasia associated with Mounier-Kuhn syndrome: a novel association in the context of spinal stenosis. 61
28855219 2017
21
A case of tracheobronchomegaly. 61
28109701 2017
22
First Case Report of Metastatic Squamous Cell Carcinoma of Lung Associated with Mounier-Kuhn Syndrome and Review of Literature. 61
28845373 2017
23
Congenital Tracheobronchomegaly (Mounier-Kuhn Syndrome) in a Woman with Human Immunodeficiency Virus: A Case Report. 61
28480154 2017
24
Mounier-Kuhn syndrome: a case of tracheal smooth muscle remodeling. 61
28174630 2017
25
An Atypical Case of Mounier-Kuhn Syndrome: Time to Change the Diagnostic Approach? 61
27367849 2017
26
Anesthesia for a patient with unexpected giant tracheobronchomegaly. 61
28757767 2017
27
The Association of Mounier-Kuhn Syndrome and Pulmonary Aspergillomas: A Case Report. 61
27761295 2016
28
Tracheobronchomegaly associated with laryngo-tracheal amyloidosis: First case report. 61
26791590 2016
29
Tracheobronchomegaly as a Cause of Bronchiectasis in an Adult. 61
27022496 2016
30
Respiratory Conditions Associated with Tracheobronchomegaly (Mounier-Kuhn Syndrome): A Study of Seventeen Cases. 61
27022925 2016
31
Mounier-Kuhn Syndrome in an Elderly Female with Pulmonary Fibrosis. 61
27597867 2016
32
An unusual cause of recurrent spontaneous pneumothorax: the Mounier-Kuhn syndrome. 61
26127019 2016
33
Huge Tracheal Diverticulum in a Patient with Mounier-Kuhn Syndrome. 61
30755880 2016
34
Mounier-Kuhn syndrome: a systematic analysis of 128 cases published within last 25 years. 61
25130790 2016
35
A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome). 61
26189148 2015
36
Coincidence of Tracheobronchomegaly (Mounier-Kuhn Syndrome) and Juvenile Idiopathic Arthritis. 61
26038962 2015
37
Clinical-radiological, histological and genetic analyses in a lung transplant recipient with Mounier-Kuhn syndrome and end-stage chronic obstructive pulmonary disease. 61
24725636 2015
38
Mounier-Kuhn Syndrome. 61
30394453 2015
39
[Tracheobronchial prosthesis in Mounier-Kuhn syndrome: New perspectives]. 61
25737189 2015
40
A 54-Year-Old Man with Tracheomegaly, Tracheal Diverticulas and Bronchiectasis--Mounier-Kuhn Syndrome. 61
26591972 2015
41
Anesthetic considerations for bilateral lung transplantation in Mounier-Kuhn syndrome. 61
24529664 2015
42
Mounier-Kuhn syndrome (MKS) - Pathognomonic Findings. 61
25654012 2014
43
The man with the large trachea: Mounier-Kuhn syndrome. 61
25004454 2014
44
Mounier-Kuhn syndrome: more than just a cough. 61
25213787 2014
45
Mounier-Kuhn syndrome. Imaging and bronchoscopic findings. 61
24983230 2014
46
A delayed diagnosis of Mounier-Kuhn syndrome. 61
24891495 2014
47
Mounier-Kuhn syndrome presenting as cough. 61
24787068 2014
48
[Mounier-Kuhn syndrome - a rare cause of recurrent bronchitis]. 61
24668436 2014
49
Mounier-Kuhn syndrome. 61
24739689 2014
50
A grossly abnormal trachea- severe tracheal diverticulosis and Mounier-Kuhn syndrome. 61
24757893 2014
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Variations for Mounier-Kuhn Syndrome

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Expression for Mounier-Kuhn Syndrome

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Search GEO for disease gene expression data for Mounier-Kuhn Syndrome.
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Pathways for Mounier-Kuhn Syndrome

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GO Terms for Mounier-Kuhn Syndrome

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Sources for Mounier-Kuhn Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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