MCID: BRN133
MIFTS: 30

Bronchomalacia

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Bronchomalacia

MalaCards integrated aliases for Bronchomalacia:

Name: Bronchomalacia 58 30 6 74
Williams-Campbell Syndrome 58 60
Tracheobronchomalacia 74

Characteristics:

Orphanet epidemiological data:

60
williams-campbell syndrome
Inheritance: Not applicable;

Classifications:



External Ids:

OMIM 58 211450
ICD10 via Orphanet 35 Q33.4
UMLS via Orphanet 75 C0340231
Orphanet 60 ORPHA411501
MedGen 43 C0264353

Summaries for Bronchomalacia

MalaCards based summary : Bronchomalacia, also known as williams-campbell syndrome, is related to chitayat syndrome and tracheomalacia. An important gene associated with Bronchomalacia is ERF (ETS2 Repressor Factor). The drugs Codeine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include trachea, lung and heart.

Wikipedia : 77 Bronchomalacia is a term for weak cartilage in the walls of the bronchial tubes, often occurring in... more...

Description from OMIM: 211450

Related Diseases for Bronchomalacia

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 chitayat syndrome 12.1
2 tracheomalacia 10.5
3 bronchiectasis 10.4
4 laryngomalacia 10.2
5 asthma 10.2
6 bunion 10.2
7 respiratory failure 10.2
8 total anomalous pulmonary venous return 1 9.9
9 larsen syndrome 9.9
10 pancreas, annular 9.9
11 pectus excavatum 9.9
12 digeorge syndrome 9.9
13 vater/vacterl association 9.9
14 cystic fibrosis 9.9
15 patent ductus arteriosus 1 9.9
16 spondylocostal dysostosis 3, autosomal recessive 9.9
17 bronchiolitis obliterans 9.9
18 pulmonary emphysema 9.9
19 vacterl association 9.9
20 ventricular septal defect 9.9
21 dysostosis 9.9
22 bronchiolitis 9.9
23 pneumonia 9.9
24 polyhydramnios 9.9
25 bronchogenic cyst 9.9
26 cystic adenomatoid malformation of lung 9.9

Graphical network of the top 20 diseases related to Bronchomalacia:



Diseases related to Bronchomalacia

Symptoms & Phenotypes for Bronchomalacia

Clinical features from OMIM:

211450

Drugs & Therapeutics for Bronchomalacia

Drugs for Bronchomalacia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Codeine Approved, Illicit Not Applicable 76-57-3 5284371
2
Acetylcysteine Approved, Investigational Not Applicable 616-91-1 12035
3
Guaifenesin Approved, Investigational, Vet_approved Not Applicable 93-14-1 3516
4
Cocaine Approved, Illicit Not Applicable 50-36-2 446220 5760
5 Expectorants Not Applicable
6 N-monoacetylcystine Not Applicable
7 Anesthetics Not Applicable
8 Chlorpheniramine, phenylpropanolamine drug combination Not Applicable

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Study to Assess the Safety, Tolerability and Potential Efficacy of a Tracheal Replacement Consisting of a Tissue-engineered Tracheal Scaffold With Seeded Mesenchymal Cells Suspended NCT02949414 Phase 1
2 Efficacy and Safety Evaluation of HCPA-1 Silicone Stent in the Treatment of Central Airway Obstructions Unknown status NCT01389531 Not Applicable
3 Airway Pressure and Lumen Changes During NIV With Flexible Bronchoscopy Completed NCT03666403 Not Applicable
4 Tracheobronchomalacia: Treatment Outcomes Completed NCT00550602
5 Matrix Biology of Tracheobronchomalacia and Tracheal Stenosis Completed NCT00705848
6 Pressure Dependent Tracheal Obstruction in Copd Patients Completed NCT01679808
7 Symptomatic Treatment of Excessive Dynamic Airway Collapse Using Daytime Portable Continuous Positive Airway Pressure Completed NCT02763631 Not Applicable
8 Tracheal Mechanics During Bronchoscopy Completed NCT00536315
9 Correlation Between Trachebroncho Malacia/Hyperdynamic Airway Collapse And Obstructive Sleep Apnea Completed NCT02097212
10 Mapping Sound Propagation Through the Human Lung for Better Diagnosis Recruiting NCT03043898
11 Airway Stents for Excessive Dynamic Airway Collapse Enrolling by invitation NCT02982876 Not Applicable

Search NIH Clinical Center for Bronchomalacia

Genetic Tests for Bronchomalacia

Genetic tests related to Bronchomalacia:

# Genetic test Affiliating Genes
1 Bronchomalacia 30

Anatomical Context for Bronchomalacia

MalaCards organs/tissues related to Bronchomalacia:

42
Trachea, Lung, Heart, Pancreas

Publications for Bronchomalacia

Articles related to Bronchomalacia:

(show top 50) (show all 94)
# Title Authors Year
1
A successful case of external stenting for bronchomalacia lasting over 20 years. ( 30716290 )
2019
2
Descending Aortopexy and Posterior Tracheopexy for Severe Tracheomalacia and Left Mainstem Bronchomalacia. ( 29524603 )
2018
3
Dynamic expiratory CT: An effective non-invasive diagnostic exam for fragile children with suspected tracheo-bronchomalacia. ( 29148213 )
2018
4
Bronchoscopic assessments and clinical outcomes in pediatric patients with tracheomalacia and bronchomalacia. ( 29124401 )
2018
5
Laryngomalacia, Tracheomalacia and Bronchomalacia. ( 29622320 )
2018
6
Treatment of bronchomalacia using three-dimensional printed polycaprolactone scaffold in a pediatric patient. ( 30709677 )
2018
7
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. ( 27738187 )
2017
8
Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia. ( 28196820 )
2017
9
A Case of the TOF with APV Complicated with Polyhydramnios and Severe Bronchomalacia. ( 27579200 )
2016
10
Severe Pediatric Bronchomalacia. ( 26682632 )
2016
11
Direct Tracheobronchopexy and Posterior Descending Aortopexy for Severe Left Mainstem Bronchomalacia Associated With Congenital Pulmonary Airway Malformation and Left Circumflex Aortic Arch. ( 27343517 )
2016
12
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
13
Isolated severe bilateral bronchomalacia: authors' reply. ( 25338493 )
2015
14
Isolated severe bilateral bronchomalacia: correspondence. ( 25371143 )
2015
15
Late-onset Pompe disease with left-sided bronchomalacia. ( 25316892 )
2015
16
Oki stenting for anastomotic bronchomalacia in lung transplantation. ( 26003956 )
2015
17
The Clinical Manifestations, Diagnosis and Management of Williams-Campbell Syndrome. ( 25317385 )
2014
18
An asthmatic patient with bronchomalacia and good response with continuous positive airway pressure. ( 24139329 )
2014
19
Bronchial stent placement in a dog with bronchomalacia and left atrial enlargement. ( 24506740 )
2014
20
Isolated severe bilateral bronchomalacia. ( 23715795 )
2014
21
Clinical evaluation and endoscopic classification of bronchomalacia in dogs. ( 23647392 )
2013
22
Williams-Campbell syndrome: a case report. ( 22287845 )
2012
23
Canine bronchomalacia: a clinicopathological study of 18 cases diagnosed by endoscopy. ( 21177126 )
2012
24
Bronchomalacia in dogs with myxomatous mitral valve degeneration. ( 22332787 )
2012
25
Lung transplantation for Williams-Campbell syndrome with a probable familial association. ( 22348466 )
2012
26
Williams-Campbell syndrome presenting in an adult. ( 22989422 )
2012
27
Aortopexy as treatment for tracheo-bronchomalacia in children: an 18-year single-center experience. ( 21263370 )
2011
28
Respiratory failure of Williams-Campbell syndrome is effectively treated by noninvasive positive pressure ventilation. ( 21841334 )
2011
29
Resolution of bronchomalacia presenting as severe asthma by endoscopic intervention. ( 21530880 )
2011
30
Clinical management of pediatric tracheo-bronchomalacia. ( 21897163 )
2011
31
Severe bronchomalacia treated by combination of Nuss procedure and aortopexy: an unusual therapy combination. ( 21172474 )
2011
32
Tracheal collapse and bronchomalacia in dogs: 58 cases (7 /2001-1 /2008). ( 20051001 )
2010
33
Handling of extensive aneurysm of the aorta with bronchomalacia in a Marfan patient. ( 20729239 )
2010
34
Bronchomalacia occurring in monozygotic twins--further information about its inheritance. ( 19604169 )
2009
35
Anesthetic management of a pediatric patient with severe Williams-Campbell syndrome undergoing surgery for giant ovarian tumor. ( 18500619 )
2008
36
Noninvasive treatment of bronchomalacia, successful ventilation of a severely ill infant. ( 17429927 )
2007
37
The role of spiral multidetector dynamic CT in the study of Williams-Campbell syndrome. ( 17050358 )
2006
38
CT bronchoscopy in the diagnosis of Williams-Campbell syndrome. ( 16423213 )
2006
39
Relief of bronchial obstruction using a Fogarty catheter in a patient with bronchomalacia. ( 16368809 )
2006
40
Treatment of bronchomalacia in cystic fibrosis by silicone stent. ( 17126148 )
2006
41
Bronchomalacia in sarcoidosis: evaluation on volumetric expiratory high-resolution CT of the lung. ( 15866132 )
2005
42
A decade of using intraluminal tracheal/bronchial stents in the management of tracheomalacia and/or bronchomalacia: is it better than aortopexy? ( 15991168 )
2005
43
Tracheomalacia and bronchomalacia in children: incidence and patient characteristics. ( 16304290 )
2005
44
Tracheomalacia and bronchomalacia in 34 children: clinical and radiologic profiles and associations with other diseases. ( 16327964 )
2005
45
Atypical infantile form of scimitar syndrome with bronchomalacia. ( 17670052 )
2003
46
Tracheomalacia and bronchomalacia in children: pathophysiology, assessment, treatment and anaesthesia management. ( 12535032 )
2003
47
Aortopexy and bronchopexy for the management of severe tracheomalacia and bronchomalacia. ( 12654081 )
2003
48
Series of laryngomalacia, tracheomalacia, and bronchomalacia disorders and their associations with other conditions in children. ( 12203847 )
2002
49
Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion. ( 12220436 )
2002
50
[Recurrent pneumonia secondary to idiopathic bronchomalacia]. ( 11412531 )
2001

Variations for Bronchomalacia

ClinVar genetic disease variations for Bronchomalacia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh38 Chromosome 19, 38505061: 38505061
2 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh37 Chromosome 19, 38995701: 38995701
3 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220423067: 220423067
4 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219558345: 219558345
5 OBSL1 NM_015311.3(OBSL1): c.2980C> T (p.Arg994Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220424193: 220424193
6 OBSL1 NM_015311.3(OBSL1): c.2980C> T (p.Arg994Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219559471: 219559471

Expression for Bronchomalacia

Search GEO for disease gene expression data for Bronchomalacia.

Pathways for Bronchomalacia

GO Terms for Bronchomalacia

Sources for Bronchomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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