MCID: BRN133
MIFTS: 33

Bronchomalacia

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Bronchomalacia

MalaCards integrated aliases for Bronchomalacia:

Name: Bronchomalacia 56 6 71
Williams-Campbell Syndrome 56 58
Tracheobronchomalacia 71

Characteristics:

Orphanet epidemiological data:

58
williams-campbell syndrome
Inheritance: Not applicable;

Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 211450
ICD10 via Orphanet 33 Q33.4
UMLS via Orphanet 72 C0340231
Orphanet 58 ORPHA411501
MedGen 41 C0264353
UMLS 71 C0264353 C0340231

Summaries for Bronchomalacia

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

Wikipedia : 74 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 63)
# Related Disease Score Top Affiliating Genes
1 respiratory failure 29.0 RYR1 ERF
2 chitayat syndrome 12.2
3 tracheomalacia 10.7
4 tracheobronchomalacia 10.4
5 laryngomalacia 10.3
6 pectus excavatum 10.2
7 patent ductus arteriosus 1 10.2
8 pulmonary hypertension 10.2
9 heart septal defect 10.2
10 bunion 10.2
11 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.2
12 bacterial pneumonia 10.2
13 gastroesophageal reflux 10.1
14 pulmonary hypoplasia, primary 10.1
15 asthma 10.1
16 cyanosis, transient neonatal 10.1
17 bronchial disease 10.1
18 ventricular septal defect 10.1
19 congestive heart failure 10.1
20 bronchitis 10.1
21 bronchogenic cyst 10.1
22 right aortic arch 10.1
23 total anomalous pulmonary venous return 1 10.0
24 fibrosis of extraocular muscles, congenital, 1 10.0
25 larsen syndrome 10.0
26 pancreas, annular 10.0
27 sarcoidosis 1 10.0
28 chromosome 2q35 duplication syndrome 10.0
29 tetralogy of fallot 10.0
30 digeorge syndrome 10.0
31 tracheoesophageal fistula with or without esophageal atresia 10.0
32 charge syndrome 10.0
33 cystic fibrosis 10.0
34 glycogen storage disease ii 10.0
35 hydrops fetalis, nonimmune 10.0
36 spondylocostal dysostosis 1, autosomal recessive 10.0
37 spondylocostal dysostosis 3, autosomal recessive 10.0
38 autosomal recessive disease 10.0
39 scoliosis 10.0
40 cardiac arrest 10.0
41 heart disease 10.0
42 hemopericardium 10.0
43 mitral valve insufficiency 10.0
44 pericardial effusion 10.0
45 vacterl association 10.0
46 atrial heart septal defect 10.0
47 dysostosis 10.0
48 craniosynostosis 10.0
49 relapsing polychondritis 10.0
50 bronchiolitis obliterans 10.0

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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational 616-91-1 12035
2
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
3
Codeine Approved, Illicit 76-57-3 5284371
4
Cocaine Approved, Illicit 50-36-2 446220 5760
5
tannic acid Approved 1401-55-4
6
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
7 Adrenergic beta-Agonists
8 Adrenergic Agents
9 Anesthetics
10 Expectorants
11 Chlorpheniramine, phenylpropanolamine drug combination
12 N-monoacetylcystine

Interventional clinical trials:

(show all 14)
# 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 Tracheobronchomalacia: Treatment Outcomes Completed NCT00550602
3 Matrix Biology of Tracheobronchomalacia and Tracheal Stenosis Completed NCT00705848
4 Pressure Dependent Tracheal Obstruction in Copd Patients Completed NCT01679808
5 Tracheal Mechanics During Bronchoscopy Completed NCT00536315
6 Correlation Between Trachebroncho Malacia/Hyperdynamic Airway Collapse And Obstructive Sleep Apnea Completed NCT02097212
7 Symptomatic Treatment of Excessive Dynamic Airway Collapse Using Daytime Portable Continuous Positive Airway Pressure Completed NCT02763631
8 Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan Completed NCT03666403
9 Mapping Sound Propagation Through the Human Lung for Better Diagnosis Recruiting NCT03043898
10 The Genetics of Severe Asthma in Children Recruiting NCT01238432
11 Airway Stents for Excessive Dynamic Airway Collapse: A Randomized Controlled Trial Enrolling by invitation NCT02982876
12 PEEP Mask for TBM-Induced Cough Not yet recruiting NCT04169282
13 The Feasibility of Continuous Bronchoscopy During Exercise in Healthy Adults in Assessing Large Airways Collapse Not yet recruiting NCT04264052
14 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

Search NIH Clinical Center for Bronchomalacia

Genetic Tests for Bronchomalacia

Anatomical Context for Bronchomalacia

MalaCards organs/tissues related to Bronchomalacia:

40
Lung, Trachea, Heart, Testes, Liver, Pancreas

Publications for Bronchomalacia

Articles related to Bronchomalacia:

(show top 50) (show all 328)
# Title Authors PMID Year
1
Probable familial congenital bronchiectasis due to cartilage deficiency (Williams-Campbell syndrome). 56 61
937831 1976
2
Case report. Generalized familial bronchomalacia. 61 56
4850901 1974
3
Generalized bronchiectasis due to extensive deficiency of bronchial cartilage. 56
5034672 1972
4
Generalized bronchiectasis associated with deficiency of cartilage in the bronchial tree. 56
13844857 1960
5
Trapdoor anterior thoracotomy for cervicothoracic and apical thoracic neuroblastoma in children. 61
32514720 2020
6
Characterization of Disease Phenotype in Very Preterm Infants with Severe Bronchopulmonary Dysplasia. 61
31995403 2020
7
Absorbable Microplate Externally Suspending Bronchomalacia in Congenital Heart Disease Infant. 61
32382764 2020
8
Defining Clinical Subgroups in Relapsing Polychondritis: A Prospective Observational Cohort Study. 61
32249511 2020
9
Case report of endoprosthesis -Y implantation in severe respiratory failure in the MPSII patient; comparison with literature data. 61
32312280 2020
10
An Update on Tracheal and Airway Collapse in Dogs. 61
31864678 2020
11
CT and radiographic evaluation of bronchial collapsibility at forced expiration in asymptomatic brachycephalic dogs. 61
31896169 2020
12
Severe Perinatal Bronchomalacia in a Newborn with Patent Ductus Arteriosus. 61
31425656 2020
13
Tracheomalacia and bronchomalacia in children: response to the ERS statement. 61
31857383 2019
14
Tracheomalacia and bronchomalacia in children: response to the ERS statement. 61
31857384 2019
15
Williams-Campbell syndrome complicated with pulmonary hypertension and Type 2 respiratory failure: An adult case report. 61
31559694 2019
16
Airway anomalies in patients with craniosynostosis. 61
30456762 2019
17
Nutritional Intervention of a Pediatric Patient with Congenital Bronchomalacia and Gastroesophageal Reflux Disease: a Case Report. 61
31720258 2019
18
Aerodigestive disorders in dogs evaluated for cough using respiratory fluoroscopy and videofluoroscopic swallow studies. 61
31492390 2019
19
ERS statement on tracheomalacia and bronchomalacia in children. 61
31320455 2019
20
A Successful Case of External Stenting for Bronchomalacia Lasting Over 20 Years. 61
30716290 2019
21
Treatment of bronchomalacia using three-dimensional printed polycaprolactone scaffold in a pediatric patient. 61
30709677 2019
22
Radiography of Chitayat syndrome in an infant male. 61
30728880 2019
23
Bronchoscopy in neonates with severe bronchopulmonary dysplasia in the NICU. 61
30518799 2019
24
Bronchial compression as adverse effect of right pulmonary artery stenting in a patient with truncus arteriosus communis and interrupted aortic arch. 61
30745775 2019
25
Computed tomographic bronchial collapsibility values over 50% may be detected in healthy dogs. 61
30311323 2019
26
Descending Aortopexy and Posterior Tracheopexy for Severe Tracheomalacia and Left Mainstem Bronchomalacia. 61
29524603 2019
27
Arterial blood gas analysis in dogs with bronchomalacia. 61
31891639 2019
28
Minimally Invasive Surgical Approach for Posterior Tracheopexy to Treat Severe Tracheomalacia: Lessons Learned from Initial Case Series. 61
29975595 2018
29
Radiological findings of complications after lung transplantation. 61
30112676 2018
30
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 61
29904178 2018
31
Clinical Characteristics and Associated Congenital Lesions with Tracheomalacia in Infants. 61
30426955 2018
32
Parturient With Barnes Syndrome (Thoracolaryngopelvic Dysplasia) Undergoing Cesarean Delivery of a Neonate With Barnes Syndrome: A Case Report. 61
29634523 2018
33
Aortopexy for the treatment of tracheobronchomalacia in 100 children: a 10-year single-centre experience. 61
29514258 2018
34
Computed tomographic and radiographic bronchial collapse may be a normal characteristic of forced expiration in dogs. 61
29786925 2018
35
Tracheal bronchus diagnosed in children undergoing flexible bronchoscopy. 61
29914745 2018
36
Importance of a Team Effort in Success of Airway Surgery. 61
30054083 2018
37
Management of Bronchial Complications After Lung Transplantation and Sequelae. 61
30054074 2018
38
Laryngomalacia in Patients With Craniosynostosis. 61
29923418 2018
39
Laryngomalacia, Tracheomalacia and Bronchomalacia. 61
29622320 2018
40
[Biodegradable airway stent for the treatment of bronchial obstruction in the child. Case report]. 61
29333837 2018
41
Successful Infant Pneumonectomy with Unilateral Pulmonary Artery Occlusion Test. 61
29332910 2018
42
Congenital respiratory tract disorders in 22q11.2 deletion syndrome. 61
29287846 2018
43
Bronchoscopic assessments and clinical outcomes in pediatric patients with tracheomalacia and bronchomalacia. 61
29124401 2018
44
Dynamic expiratory CT: An effective non-invasive diagnostic exam for fragile children with suspected tracheo-bronchomalacia. 61
29148213 2018
45
The Diagnosis and Management of Airway Complications Following Lung Transplantation. 61
28274791 2017
46
Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-Year survival. 61
28688555 2017
47
Association of airway abnormalities with 22q11.2 deletion syndrome. 61
28390597 2017
48
A comparison of virtual bronchoscopy versus flexible bronchoscopy in the diagnosis of tracheobronchomalacia in children. 61
27641078 2017
49
Types of laryngomalacia in children: interrelationship between clinical course and comorbid conditions. 61
27722899 2017
50
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. 61
27738187 2017

Variations for Bronchomalacia

ClinVar genetic disease variations for Bronchomalacia:

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