MCID: TRC097
MIFTS: 34

Tracheomalacia

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

Aliases & Classifications for Tracheomalacia

MalaCards integrated aliases for Tracheomalacia:

Name: Tracheomalacia 12 6 45 15 74
Congenital Tracheomalacia 12 54 60 45
Congenital Major Airway Collapse 54 60
Tracheomalacia, Congenital 54
Type 1 Tracheomalacia 54

Characteristics:

Orphanet epidemiological data:

60
congenital tracheomalacia
Age of onset: Infancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060313
SNOMED-CT 69 95467005
ICD10 34 Q32.0
MESH via Orphanet 46 C557675
ICD10 via Orphanet 35 Q32.0
UMLS via Orphanet 75 C0392109
Orphanet 60 ORPHA95430

Summaries for Tracheomalacia

NIH Rare Diseases : 54 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). Affiliated tissues include trachea, skin and pancreas.

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

Wikipedia : 77 Tracheomalacia is a condition where the cartilage that keeps the airway (trachea) open is soft such that... more...

Related Diseases for Tracheomalacia

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 tracheal stenosis 30.3 SLC22A4 TEF
2 bronchomalacia 11.5
3 xia-gibbs syndrome 11.1
4 kleefstra syndrome 11.1
5 2q37 deletion syndrome 11.1
6 tracheoesophageal fistula with or without esophageal atresia 10.5
7 esophageal atresia 10.5
8 tracheoesophageal fistula 10.3
9 goiter 10.3
10 laryngomalacia 10.1
11 cystic fibrosis 10.1
12 asthma 10.1
13 tracheobronchial stenosis, congenital 10.1
14 congenital tracheal stenosis 10.1
15 pulmonary disease, chronic obstructive 10.1
16 achalasia 10.1
17 mounier-kuhn syndrome 10.1
18 tracheobronchomalacia 10.1
19 gastroesophageal reflux 10.0
20 tracheobronchomegaly 10.0
21 bronchopulmonary dysplasia 10.0
22 sleep apnea 10.0
23 relapsing polychondritis 10.0
24 aortic aneurysm 10.0
25 trachea leiomyoma 10.0 SLC22A4 TEF
26 amyotrophic lateral sclerosis 1 9.8
27 larsen syndrome 9.8
28 marfan syndrome 9.8
29 kniest dysplasia 9.8
30 pancreas, annular 9.8
31 pheochromocytoma 9.8
32 tetralogy of fallot 9.8
33 renal hypodysplasia/aplasia 1 9.8
34 vater/vacterl association 9.8
35 achalasia, familial esophageal 9.8
36 hallermann-streiff syndrome 9.8
37 aspergillosis 9.8
38 mucopolysaccharidosis-plus syndrome 9.8
39 adult respiratory distress syndrome 9.8
40 intermittent claudication 9.8
41 multinodular goiter 9.8
42 adrenal gland pheochromocytoma 9.8
43 scoliosis 9.8
44 esophageal atresia/tracheoesophageal fistula 9.8
45 respiratory failure 9.8
46 megaesophagus 9.8
47 endemic goiter 9.8
48 vacterl association 9.8
49 ventricular septal defect 9.8
50 lateral sclerosis 9.8

Graphical network of the top 20 diseases related to Tracheomalacia:



Diseases related to Tracheomalacia

Symptoms & Phenotypes for Tracheomalacia

Drugs & Therapeutics for Tracheomalacia

Interventional clinical trials:


# 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 Tracheal Mechanics During Bronchoscopy Completed NCT00536315
3 Tracheobronchomalacia: Treatment Outcomes Completed NCT00550602
4 Airway Pressure and Lumen Changes During NIV With Flexible Bronchoscopy Completed NCT03666403 Not Applicable
5 In Infants With Laryngomalacia, Does Acid-Blocking Medication Improve Respiratory Symptoms? Withdrawn NCT02700087 Not Applicable 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:

42
Trachea, Skin, Pancreas, Thyroid, Smooth Muscle, Adrenal Gland

Publications for Tracheomalacia

Articles related to Tracheomalacia:

(show top 50) (show all 292)
# Title Authors Year
1
Helical multi-detector CT scan as a tool for diagnosing tracheomalacia in children. ( 30485735 )
2019
2
Aortopexy for tracheomalacia via a suprasternal incision. ( 30518491 )
2019
3
Ultralow Dose Dynamic Expiratory Computed Tomography for Evaluation of Tracheomalacia. ( 30531547 )
2019
4
Tracheal suspension with autogenous rib cartilage in a patient with severe tracheomalacia. ( 30683123 )
2019
5
Tracheomalacia as a Complication of Stenting for Esophageal Injury after a Transsternal Approach to High Thoracic Vertebral Metastasis. ( 30721772 )
2019
6
Clinical Characteristics of Tracheomalacia in Infants. ( 30955006 )
2019
7
Clinical Characteristics of Tracheomalacia in Infants: Author's Reply. ( 30955007 )
2019
8
Anaesthetic management of an infant with tracheomalacia scheduled for computed tomography angiography: A challenge. ( 31000898 )
2019
9
Achalasia with massive oesophageal dilation causing tracheomalacia and asthma symptoms. ( 29321968 )
2018
10
Huge thyroid adenoma with tracheomalacia. ( 30147923 )
2018
11
Bronchoscopic assessments and clinical outcomes in pediatric patients with tracheomalacia and bronchomalacia. ( 29124401 )
2018
12
Descending Aortopexy and Posterior Tracheopexy for Severe Tracheomalacia and Left Mainstem Bronchomalacia. ( 29524603 )
2018
13
Laryngomalacia, Tracheomalacia and Bronchomalacia. ( 29622320 )
2018
14
Thoracoscopic posterior tracheopexy during primary esophageal atresia repair: a new approach to prevent tracheomalacia complications. ( 29804792 )
2018
15
Serial fiber optic bronchoscopy (FOB) to predict the need of tracheostomy in tracheomalacia after thyroidectomy in long standing goiter. ( 29524827 )
2018
16
Successful Management of Acquired Tracheomalacia of Patients With Amyotrophic Lateral Sclerosis: A Report of Three Cases. ( 29765893 )
2018
17
Can high flow nasal cannula be used in a pediatric patient with tracheomalacia? ( 29136346 )
2018
18
Bronchoscopy as a screening tool for symptomatic tracheomalacia in oesophageal atresia. ( 29217321 )
2018
19
Tracheobronchoplasty for tracheomalacia. ( 29707504 )
2018
20
Airway management during general anesthesia in an intellectually disabled patient with undiagnosed tracheomalacia. ( 29744388 )
2018
21
Pediatric tracheomalacia and the perioperative anesthetic management of thoracoscopic posterior tracheopexy. ( 29962064 )
2018
22
Minimally Invasive Surgical Approach for Posterior Tracheopexy to Treat Severe Tracheomalacia: Lessons Learned from Initial Case Series. ( 29975595 )
2018
23
Thoracoscopic posterior tracheopexy for tracheomalacia: A minimally invasive technique. ( 30316404 )
2018
24
Tracheomalacia with tracheal bronchus. ( 30348930 )
2018
25
Preclinical assessment of resorbable silk splints for the treatment of pediatric tracheomalacia. ( 30408198 )
2018
26
Clinical Characteristics and Associated Congenital Lesions with Tracheomalacia in Infants. ( 30426955 )
2018
27
Diagnostic flexible versus rigid bronchoscopy for the assessment of tracheomalacia in children. ( 30565533 )
2018
28
Sudden Airway Collapse After Pneumoperitoneum With Undiagnosed Tracheomalacia in a Morbidly Obese 12-Year-Old Boy Undergoing Laparoscopic Cholecystectomy: A Case Report. ( 30575611 )
2018
29
A Case of Tracheomalacia in Chronic Obstructive Pulmonary Disease: What Went Wrong? ( 30756054 )
2018
30
Tracheomalacia Due to Esophageal Achalasia. ( 27364977 )
2017
31
Tracheomalacia in a patient with tracheobronchial amyloidosis. ( 27478146 )
2017
32
Esophageal Atresia/Tracheoesophageal Fistula Repair Complicated by Tracheomalacia: A Case Report of Successful Management of Respiratory Distress Using Caudal Morphine. ( 28410264 )
2017
33
Posterior Tracheopexy for Severe Tracheomalacia Associated with Esophageal Atresia (EA): Primary Treatment at the Time of Initial EA Repair versus Secondary Treatment. ( 29379786 )
2017
34
Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses. ( 27450368 )
2017
35
Ex vivo tracheomalacia model with 3D-printed external tracheal splint. ( 27531619 )
2017
36
Recurrent spontaneous pneumomediastinum in a child with tracheomalacia. ( 27723958 )
2017
37
Treatment of Severe Acquired Tracheomalacia With a Patient-Specific, 3D-Printed, Permanent Tracheal Splint. ( 28125750 )
2017
38
External airway splint to treat tracheomalacia following laryngotracheal reconstruction. ( 28167015 )
2017
39
Use of a biodegradable, oversized stent in a child with tracheomalacia secondary to vascular external compression. ( 28281415 )
2017
40
Posterior tracheopexy for severe tracheomalacia. ( 28385426 )
2017
41
Computational modeling of airway instability and collapse in tracheomalacia. ( 28424075 )
2017
42
Three-dimensional printing of external airway splints for tracheomalacia. ( 28449431 )
2017
43
Aberrant right subclavian artery syndrome manifesting as focal tracheomalacia. ( 28474661 )
2017
44
Home high-flow nasal cannula as a treatment for severe tracheomalacia: A pediatric case report. ( 28504355 )
2017
45
Paediatric tracheomalacia - A review of clinical features and comparison of diagnostic imaging techniques. ( 28583509 )
2017
46
Mediastinal Tracheostoma for Treatment of Tracheostenosis after Tracheostomy in a Patient with Mucopolysaccharidosis-Induced Tracheomalacia. ( 29158939 )
2017
47
All that wheezes is not asthma: adult tracheomalacia resulting from innominate artery compression. ( 27377076 )
2017
48
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
49
External bioresorbable airway rigidification to treat refractory localized tracheomalacia. ( 26971821 )
2016
50
Tracheomalacia and recurrent exacerbations of chronic obstructive pulmonary disease: a case report and review of the literature. ( 27987292 )
2016

Variations for Tracheomalacia

ClinVar genetic disease variations for Tracheomalacia:

6
# Gene Variation Type Significance SNP ID Assembly Location
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
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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