MCID: TRC097
MIFTS: 38

Tracheomalacia

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Tracheomalacia

MalaCards integrated aliases for Tracheomalacia:

Name: Tracheomalacia 12 6 44 15 72
Congenital Tracheomalacia 12 53 59 44 33
Congenital Major Airway Collapse 53 59
Tracheomalacia, Congenital 53
Type 1 Tracheomalacia 53

Characteristics:

Orphanet epidemiological data:

59
congenital tracheomalacia
Age of onset: Infancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060313
SNOMED-CT 68 95467005
ICD10 33 Q32.0
MESH via Orphanet 45 C557675
ICD10 via Orphanet 34 Q32.0
UMLS via Orphanet 73 C0392109
Orphanet 59 ORPHA95430
UMLS 72 C0392109 C0948187

Summaries for Tracheomalacia

NIH Rare Diseases : 53 Congenital tracheomalacia is when an infant is born with weak cartilage around the windpipe (trachea) that makes it difficult to keep the airway open. The trachea can collapse when breathing out. Symptoms vary from mild to severe and may include noisy breathing (stridor), shortness of breath, difficulty breathing, and bluish skin (cyanotic spells). Symptoms typically worsen during periods of activity. Tracheomalacia can occur on its own or along with other airway problems. It can also occur with congenital abnormalities that affect other parts of the body. Tracheomalacia often resolves on its own by the second year of life. Treatment of symptoms may include humidified air, chest physical therapy, or continuous positive airway pressure (CPAP) for respiratory distress. Severe tracheomalacia may need to be treated with surgery.

MalaCards based summary : Tracheomalacia, also known as congenital tracheomalacia, is related to tracheal stenosis and bronchomalacia. An important gene associated with Tracheomalacia is TEF (TEF Transcription Factor, PAR BZIP Family Member). The drugs Caffeine and Calcium have been mentioned in the context of this disorder. Affiliated tissues include trachea, skin and thyroid.

Disease Ontology : 12 A tracheal disease characterized by flaccidity of the tracheal support cartilage.

Wikipedia : 75 Tracheomalacia is a condition or incident where the cartilage that keeps the airway (trachea) open is... more...

Related Diseases for Tracheomalacia

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

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 tracheal stenosis 30.5 TEF SLC22A4
2 bronchomalacia 11.6
3 xia-gibbs syndrome 11.2
4 kleefstra syndrome 11.2
5 2q37 deletion syndrome 11.2
6 esophageal atresia 10.7
7 tracheoesophageal fistula with or without esophageal atresia 10.7
8 tracheoesophageal fistula 10.6
9 tracheobronchomalacia 10.5
10 goiter 10.4
11 gastroesophageal reflux 10.4
12 pulmonary disease, chronic obstructive 10.4
13 laryngomalacia 10.3
14 respiratory failure 10.3
15 cyanosis, transient neonatal 10.3
16 scoliosis 10.3
17 tracheobronchial stenosis, congenital 10.2
18 lung disease 10.2
19 congenital tracheal stenosis 10.2
20 right aortic arch 10.2
21 asthma 10.2
22 relapsing polychondritis 10.2
23 cystic fibrosis 10.1
24 tracheobronchomegaly 10.1
25 sleep apnea 10.1
26 achalasia 10.1
27 mounier-kuhn syndrome 10.1
28 fibrosis of extraocular muscles, congenital, 1 10.0
29 tetralogy of fallot 10.0
30 mucopolysaccharidosis-plus syndrome 10.0
31 multinodular goiter 10.0
32 esophageal atresia/tracheoesophageal fistula 10.0
33 hemopericardium 10.0
34 pericardial effusion 10.0
35 megaesophagus 10.0
36 vacterl association 10.0
37 cerebral palsy 10.0
38 lysosomal storage disease 10.0
39 aortic aneurysm 10.0
40 bronchitis 10.0
41 adenoma 10.0
42 mediastinitis 10.0
43 pulmonary embolism 10.0
44 aberrant subclavian artery 10.0
45 bronchopulmonary dysplasia 10.0
46 dwarfism 10.0
47 aneurysm 10.0
48 trachea leiomyoma 9.9 TEF SLC22A4
49 achondroplasia 9.9
50 amyotrophic lateral sclerosis 1 9.9

Graphical network of the top 20 diseases related to Tracheomalacia:



Diseases related to Tracheomalacia

Symptoms & Phenotypes for Tracheomalacia

Drugs & Therapeutics for Tracheomalacia

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Caffeine Approved 58-08-2 2519
2
Calcium Approved, Nutraceutical 7440-70-2 271
3 Central Nervous System Stimulants
4 Purinergic P1 Receptor Antagonists
5 Chelating Agents
6 Phosphodiesterase Inhibitors
7 Anticoagulants
8 Calcium, Dietary
9 Caffeine citrate
10 Calamus
11 Adrenergic beta-Agonists
12 Adrenergic Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Children With a Chronic Cough and the Impact of Gastroesophageal Reflux Withdrawn NCT00771706 Phase 3 Proton Pump Inhibitor;Placebo
2 A Phase I Open-label Study to Assess the Safety, Tolerability and Potential Efficacy of a Novel Tracheal Replacement Consisting of a Tissue-engineered Decellularised Tracheal Scaffold With Seeded Autologous Mesenchymal Cells in Subjects With Severe Tracheal Stenosis or Malacia Suspended NCT02949414 Phase 1
3 Tracheal Mechanics During Bronchoscopy Completed NCT00536315
4 Tracheobronchomalacia: Treatment Outcomes Completed NCT00550602
5 Matrix Biology of Tracheobronchomalacia and Tracheal Stenosis Completed NCT00705848
6 Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People Completed NCT03267602
7 Caffeine Citrate for the Treatment of Apnea Associated With Bronchiolitis in Young Infants: A Randomized, Double Blind, Controlled Trial (RCT) Completed NCT01435486 Caffeine citrate;Normal saline
8 F.R.O.N.T. Formula for Pre-operative Airway Assessment and Documentation Completed NCT02313168
9 Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan Completed NCT03666403
10 Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
11 High Flow Nasal Cannula Therapy in the Paediatric Home Setting Recruiting NCT04037839
12 The Genetics of Severe Asthma in Children Recruiting NCT01238432
13 Effects of High Flow Nasal Cannula on Deadspace Reduction and Regional Distribution of Ventilation Recruiting NCT02460653
14 In Infants With Symptoms of Tracheomalacia or Laryngomalacia, Does Acid-Blocking Medication Improve Respiratory Symptoms? A Randomized, Controlled Trial Withdrawn NCT02700087 ranitidine or famotidine;Placebo

Search NIH Clinical Center for Tracheomalacia

Cochrane evidence based reviews: tracheomalacia

Genetic Tests for Tracheomalacia

Anatomical Context for Tracheomalacia

MalaCards organs/tissues related to Tracheomalacia:

41
Trachea, Skin, Thyroid, Lung, Heart, Bone, Thymus

Publications for Tracheomalacia

Articles related to Tracheomalacia:

(show top 50) (show all 1027)
# Title Authors PMID Year
1
Paediatric Tracheomalacia. 38 6
25962857 2016
2
An Update on Diagnosis of Tracheomalacia in Children. 38 6
26276910 2015
3
Preclinical assessment of resorbable silk splints for the treatment of pediatric tracheomalacia. 38
30408198 2019
4
Combination of vascularization and cilia formation for three-dimensional airway tissue engineering. 38
31081993 2019
5
Are Fenestrated Tracheostomy Tubes Still Valuable? 38
31318610 2019
6
Exploring polycaprolactone in tracheal surgery: A scoping review of in-vivo studies. 38
31059931 2019
7
Biodegradable airway stents: Novel treatment of airway obstruction in children. 38
31199878 2019
8
Spanish multicentre study on morbidity and pathogenicity of tracheal bronchus in children. 38
31328420 2019
9
Should Proton Pump Inhibitors be Systematically Prescribed in Patients With Esophageal Atresia After Surgical Repair? 38
30889131 2019
10
ERS Statement on Tracheomalacia and Bronchomalacia in Children. 38
31320455 2019
11
Thoracoscopic Posterior Tracheopexy Is a Feasible and Effective Treatment for Tracheomalacia. 38
31219396 2019
12
Neonatal factors predictive for respiratory and gastro-intestinal morbidity after esophageal atresia repair. 38
30146459 2019
13
Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature. 38
31213073 2019
14
Sudden Airway Collapse After Pneumoperitoneum With Undiagnosed Tracheomalacia in a Morbidly Obese 12-Year-Old Boy Undergoing Laparoscopic Cholecystectomy: A Case Report. 38
30575611 2019
15
Patient Perceived Burden of Disease in Pediatric Relapsing Polychondritis. 38
31043550 2019
16
Patient characteristics and outcomes of a home mechanical ventilation program in a developing country. 38
31031340 2019
17
Tailored Management of Airway Abnormalities in Children with Congenital Single Functional Lung. 38
30528176 2019
18
Anaesthetic management of an infant with tracheomalacia scheduled for computed tomography angiography: A challenge. 38
31000898 2019
19
Endobronchial Ultrasound for Benign Tracheal Stenosis. 38
30231264 2019
20
Paediatric tracheostomy: A modified technique and its outcomes, results from a South Indian tertiary care. 38
30578997 2019
21
Clinical Characteristics of Tracheomalacia in Infants: Author's Reply. 38
30955007 2019
22
Ultralow Dose Dynamic Expiratory Computed Tomography for Evaluation of Tracheomalacia. 38
30531547 2019
23
Clinical Characteristics of Tracheomalacia in Infants. 38
30955006 2019
24
Quantitative Assessment of Regional Dynamic Airway Collapse in Neonates via Retrospectively Respiratory-Gated 1 H Ultrashort Echo Time MRI. 38
30252988 2019
25
Tracheoscopic Findings and Their Impact on Respiratory Symptoms in Children with Esophageal Atresia. 38
30900225 2019
26
Aortopexy for tracheomalacia via a suprasternal incision. 38
30518491 2019
27
Bronchoscopy in neonates with severe bronchopulmonary dysplasia in the NICU. 38
30518799 2019
28
Injection laryngoplasty in neonates and young children with unilateral vocal fold immobility. 38
30579066 2019
29
Management of retrosternal goiter: Retrospective study of 72 patients at two secondary care centers. 38
30017236 2019
30
Tracheomalacia as a Complication of Stenting for Esophageal Injury after a Transsternal Approach to High Thoracic Vertebral Metastasis. 38
30721772 2019
31
Lung Microbiota and Pulmonary Inflammatory Cytokines Expression Vary in Children With Tracheomalacia and Adenoviral or Mycoplasma pneumoniae Pneumonia. 38
31316955 2019
32
8p 11 Microduplication Is Associated with Neonatal Stridor. 38
30800050 2019
33
Helical multi-detector CT scan as a tool for diagnosing tracheomalacia in children. 38
30485735 2019
34
Tracheal suspension with autogenous rib cartilage in a patient with severe tracheomalacia. 38
30683123 2019
35
The diagnostic role of triple endoscopy in pediatric patients with chronic cough. 38
30554708 2019
36
Overcorrected Midface Advancement to Improve Airway Problems in Severe Pfeiffer Syndrome Types II and III. 38
30444777 2019
37
What is the impact of the use of transanastomotic feeding tube on patients with esophageal atresia: a systematic review and meta-analysis. 38
30541487 2018
38
Minimally Invasive Surgical Approach for Posterior Tracheopexy to Treat Severe Tracheomalacia: Lessons Learned from Initial Case Series. 38
29975595 2018
39
Outcomes and swallowing evaluations after injection laryngoplasty for type I laryngeal cleft: Does age matter? 38
30368367 2018
40
A novel method to generate dynamic boundary conditions for airway CFD by mapping upper airway movement with non-rigid registration of dynamic and static MRI. 38
30133165 2018
41
Diagnostic flexible versus rigid bronchoscopy for the assessment of tracheomalacia in children. 38
30565533 2018
42
Thoracoscopic posterior tracheopexy for tracheomalacia: A minimally invasive technique. 38
30316404 2018
43
Airway anomalies in patients with craniosynostosis. 38
30456762 2018
44
Predictive factors affecting the prognosis and late complications of 73 consecutive cases of esophageal atresia at 2 centers. 38
30084025 2018
45
Clinical Characteristics and Associated Congenital Lesions with Tracheomalacia in Infants. 38
30426955 2018
46
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment. 38
30152146 2018
47
Structural airway abnormalities contribute to dysphagia in children with esophageal atresia and tracheoesophageal fistula. 38
29429770 2018
48
Parturient With Barnes Syndrome (Thoracolaryngopelvic Dysplasia) Undergoing Cesarean Delivery of a Neonate With Barnes Syndrome: A Case Report. 38
29634523 2018
49
Tracheal bronchus diagnosed in children undergoing flexible bronchoscopy. 38
29914745 2018
50
Aortopexy for the treatment of tracheobronchomalacia in 100 children: a 10-year single-centre experience. 38
29514258 2018

Variations for Tracheomalacia

ClinVar genetic disease variations for Tracheomalacia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(3;5)(q23;q13)dn Translocation Likely pathogenic
2 46;XY;t(4;14)(p14;q11.2)dn Translocation Uncertain significance

Expression for Tracheomalacia

Search GEO for disease gene expression data for Tracheomalacia.

Pathways for Tracheomalacia

GO Terms for Tracheomalacia

Sources for Tracheomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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