MCID: BRN133
MIFTS: 32

Bronchomalacia

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Bronchomalacia

MalaCards integrated aliases for Bronchomalacia:

Name: Bronchomalacia 57 6 70
Williams-Campbell Syndrome 57 58
Tracheobronchomalacia 70

Characteristics:

Orphanet epidemiological data:

58
williams-campbell syndrome
Inheritance: Not applicable;

Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 211450
ICD10 via Orphanet 33 Q33.4
UMLS via Orphanet 71 C0340231
Orphanet 58 ORPHA411501
MedGen 41 C0264353
UMLS 70 C0264353 C0340231

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 Guaifenesin and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include lung, trachea and heart.

Wikipedia : 73 Bronchomalacia is a term for weak cartilage in the walls of the bronchial tubes, often occurring in... more...

More information from OMIM: 211450

Related Diseases for Bronchomalacia

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 chitayat syndrome 11.4
2 tracheomalacia 10.5
3 tracheobronchomalacia 10.2
4 laryngomalacia 10.1
5 alpha-1-antitrypsin deficiency 10.1
6 aspergillosis 10.1
7 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.1
8 allergic bronchopulmonary aspergillosis 10.1
9 bacterial pneumonia 10.1
10 pectus excavatum 10.0
11 patent ductus arteriosus 1 10.0
12 pulmonary hypertension 10.0
13 heart septal defect 10.0
14 bunion 10.0
15 gastroesophageal reflux 9.9
16 cystic fibrosis 9.9
17 pulmonary hypoplasia, primary 9.9
18 cyanosis, transient neonatal 9.9
19 respiratory failure 9.9
20 bronchial disease 9.9
21 ventricular septal defect 9.9
22 congestive heart failure 9.9
23 bronchitis 9.9
24 lung disease 9.9
25 bronchogenic cyst 9.9
26 right aortic arch 9.9
27 total anomalous pulmonary venous return 1 9.8
28 fibrosis of extraocular muscles, congenital, 1 9.8
29 larsen syndrome 9.8
30 pancreas, annular 9.8
31 sarcoidosis 1 9.8
32 chromosome 2q35 duplication syndrome 9.8
33 tetralogy of fallot 9.8
34 digeorge syndrome 9.8
35 tracheoesophageal fistula with or without esophageal atresia 9.8
36 vater/vacterl association 9.8
37 charge syndrome 9.8
38 glycogen storage disease ii 9.8
39 hydrops fetalis, nonimmune 9.8
40 spondylocostal dysostosis 1, autosomal recessive 9.8
41 craniosynostosis 4 9.8
42 asthma 9.8
43 mycobacterium tuberculosis 1 9.8
44 spondylocostal dysostosis 3, autosomal recessive 9.8
45 lymphatic malformation 7 9.8
46 autosomal recessive disease 9.8
47 scoliosis 9.8
48 heart disease 9.8
49 hemopericardium 9.8
50 mitral valve insufficiency 9.8

Graphical network of the top 20 diseases related to Bronchomalacia:



Diseases related to Bronchomalacia

Symptoms & Phenotypes for Bronchomalacia

Clinical features from OMIM®:

211450 (Updated 20-May-2021)

Drugs & Therapeutics for Bronchomalacia

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
2
Acetylcysteine Approved, Investigational 616-91-1 12035
3
Cocaine Approved, Illicit 50-36-2 5760 446220
4
Codeine Approved, Illicit 76-57-3 5284371
5
Phenylpropanolamine Approved, Vet_approved, Withdrawn 14838-15-4 26934
6
tannic acid Approved 1401-55-4
7
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
8 Anesthetics
9 Chlorpheniramine, phenylpropanolamine drug combination
10 Expectorants
11 N-monoacetylcystine

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy and Safety of the HCPA-1 Silicone Stent in the Treatment of Central Airway Obstructions Unknown status NCT01389531
2 Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan Completed NCT03666403
3 Matrix Biology of Tracheobronchomalacia and Tracheal Stenosis Completed NCT00705848
4 Tracheobronchomalacia: Treatment Outcomes Completed NCT00550602
5 Pressure Dependent Tracheal Obstruction in Copd Patients Completed NCT01679808
6 Symptomatic Treatment of Excessive Dynamic Airway Collapse Using Daytime Portable Continuous Positive Airway Pressure Completed NCT02763631
7 Tracheal Mechanics During Bronchoscopy Completed NCT00536315
8 Airway Stents for Excessive Dynamic Airway Collapse: A Randomized Controlled Trial Enrolling by invitation NCT02982876
9 Non-invasive Positive Expiratory Pressure Mask (PEEP-Mask) for Tracheobronchomalacia Associated Cough Not yet recruiting NCT04169282
10 Effect of Continuous Positive Airway Pressure (CPAP) on 6-Minute Walk Test Outcomes in Patients With Excessive Central Airway Collapse (ECAC) Not yet recruiting NCT04217603
11 The Feasibility of Continuous Bronchoscopy During Exercise in Healthy Adults in Assessing Large Airways Collapse Suspended NCT04264052
12 Mapping Sound Propagation Through the Human Lung for Better Diagnosis Terminated NCT03043898

Search NIH Clinical Center for Bronchomalacia

Genetic Tests for Bronchomalacia

Anatomical Context for Bronchomalacia

MalaCards organs/tissues related to Bronchomalacia:

40
Lung, Trachea, Heart, Pancreas, Liver

Publications for Bronchomalacia

Articles related to Bronchomalacia:

(show top 50) (show all 345)
# Title Authors PMID Year
1
Probable familial congenital bronchiectasis due to cartilage deficiency (Williams-Campbell syndrome). 61 57
937831 1976
2
Case report. Generalized familial bronchomalacia. 61 57
4850901 1974
3
Generalized bronchiectasis due to extensive deficiency of bronchial cartilage. 57
5034672 1972
4
Generalized bronchiectasis associated with deficiency of cartilage in the bronchial tree. 57
13844857 1960
5
Evaluation of bronchial narrowing in coughing dogs with heart murmurs using computed tomography. 61
33811698 2021
6
Outcomes of protracted bacterial bronchitis in children: A 5-year prospective cohort study. 61
33045125 2021
7
A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review. 61
33759348 2021
8
Topical mitomycin-C as an adjuvant to multimodal endoscopic treatment for tracheobronchial stenosis secondary to endobronchial tuberculosis. 61
33532074 2021
9
Successful biodegradable stent insertion in an infant with severe bronchomalacia and cystic fibrosis. 61
33168477 2021
10
Recurrent croup in a young child: look beyond airways disease. 61
33619150 2021
11
Williams-Campbell syndrome: an unusual presentation in an adult patient. 61
33614112 2021
12
Airway Abnormalities in Patients With Congenital Heart Disease: Incidence and Associated Factors. 61
32859491 2021
13
Central Airway Collapse, an Underappreciated Cause of Respiratory Morbidity. 61
32829904 2020
14
Conservative management of airway tear as a complication of silicone endobronchial stenting in bronchomalacia secondary to endobronchial tuberculosis. 61
33194207 2020
15
Orthotopic Heart Transplantation in a Child with Single Ventricle after Pneumonectomy. 61
33165000 2020
16
Transcatheter closure of patent ductus arteriosus in preterm ventilation-dependent neonates: A case series report. 61
33217791 2020
17
Selective Lesser Curvature Augmentation with Geometric Study for Repair of Aortic Arch Obstruction. 61
33157058 2020
18
Expiratory central airway collapse - an overlooked entity?: Two case reports. 61
33080680 2020
19
Successful repair of critical bronchial stenosis with coexisting bronchomalacia and congenital heart defects in infants by slide bronchoplasty. 61
32797223 2020
20
Defining Clinical Subgroups in Relapsing Polychondritis: A Prospective Observational Cohort Study. 61
32249511 2020
21
Trapdoor anterior thoracotomy for cervicothoracic and apical thoracic neuroblastoma in children. 61
32514720 2020
22
Absorbable Microplate Externally Suspending Bronchomalacia in Congenital Heart Disease Infant. 61
32382764 2020
23
Long-term outcomes of tracheobronchial stenosis due to tuberculosis (TSTB) in symptomatic patients: airway intervention vs. conservative management. 61
32802443 2020
24
Flexible Bronchoscopy in Evaluation of Persistent Wheezing in Children-Experiences from National Pediatric Center. 61
32630648 2020
25
Characterization of Disease Phenotype in Very Preterm Infants with Severe Bronchopulmonary Dysplasia. 61
31995403 2020
26
Case report of endoprosthesis -Y implantation in severe respiratory failure in the MPSII patient; comparison with literature data. 61
32312280 2020
27
CT and radiographic evaluation of bronchial collapsibility at forced expiration in asymptomatic brachycephalic dogs. 61
31896169 2020
28
An Update on Tracheal and Airway Collapse in Dogs. 61
31864678 2020
29
Severe Perinatal Bronchomalacia in a Newborn with Patent Ductus Arteriosus. 61
31425656 2020
30
Tracheomalacia and bronchomalacia in children: response to the ERS statement. 61
31857383 2019
31
Tracheomalacia and bronchomalacia in children: response to the ERS statement. 61
31857384 2019
32
Williams-Campbell syndrome complicated with pulmonary hypertension and Type 2 respiratory failure: An adult case report. 61
31559694 2019
33
Airway anomalies in patients with craniosynostosis. 61
30456762 2019
34
Nutritional Intervention of a Pediatric Patient with Congenital Bronchomalacia and Gastroesophageal Reflux Disease: a Case Report. 61
31720258 2019
35
Aerodigestive disorders in dogs evaluated for cough using respiratory fluoroscopy and videofluoroscopic swallow studies. 61
31492390 2019
36
ERS statement on tracheomalacia and bronchomalacia in children. 61
31320455 2019
37
A Successful Case of External Stenting for Bronchomalacia Lasting Over 20 Years. 61
30716290 2019
38
Treatment of bronchomalacia using three-dimensional printed polycaprolactone scaffold in a pediatric patient. 61
30709677 2019
39
Radiography of Chitayat syndrome in an infant male. 61
30728880 2019
40
Bronchoscopy in neonates with severe bronchopulmonary dysplasia in the NICU. 61
30518799 2019
41
Computed tomographic bronchial collapsibility values over 50% may be detected in healthy dogs. 61
30311323 2019
42
Descending Aortopexy and Posterior Tracheopexy for Severe Tracheomalacia and Left Mainstem Bronchomalacia. 61
29524603 2019
43
Bronchial compression as adverse effect of right pulmonary artery stenting in a patient with truncus arteriosus communis and interrupted aortic arch. 61
30745775 2019
44
Arterial blood gas analysis in dogs with bronchomalacia. 61
31891639 2019
45
Minimally Invasive Surgical Approach for Posterior Tracheopexy to Treat Severe Tracheomalacia: Lessons Learned from Initial Case Series. 61
29975595 2018
46
Radiological findings of complications after lung transplantation. 61
30112676 2018
47
Clinical Characteristics and Associated Congenital Lesions with Tracheomalacia in Infants. 61
30426955 2018
48
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 61
29904178 2018
49
Tracheal bronchus diagnosed in children undergoing flexible bronchoscopy. 61
29914745 2018
50
Aortopexy for the treatment of tracheobronchomalacia in 100 children: a 10-year single-centre experience. 61
29514258 2018

Variations for Bronchomalacia

ClinVar genetic disease variations for Bronchomalacia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) SNV Uncertain significance 598981 rs749541061 GRCh37: 2:220424193-220424193
GRCh38: 2:219559471-219559471
2 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) SNV Uncertain significance 598982 rs560246798 GRCh37: 2:220423067-220423067
GRCh38: 2:219558345-219558345
3 RYR1 NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) SNV Uncertain significance 133221 rs193922829 GRCh37: 19:38995701-38995701
GRCh38: 19:38505061-38505061

Expression for Bronchomalacia

Search GEO for disease gene expression data for Bronchomalacia.

Pathways for Bronchomalacia

GO Terms for Bronchomalacia

Cellular components related to Bronchomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.62 RYR1 OBSL1

Sources for Bronchomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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