MCID: TRC097
MIFTS: 33

Tracheomalacia

Categories: Rare diseases, Respiratory diseases, Fetal diseases

Aliases & Classifications for Tracheomalacia

MalaCards integrated aliases for Tracheomalacia:

Name: Tracheomalacia 12 29 6 15 73
Congenital Tracheomalacia 12 53 59 44
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
ICD10 33 Q32.0
MeSH 44 C557675
SNOMED-CT 68 95467005
Orphanet 59 ORPHA95430
MESH via Orphanet 45 C557675
UMLS via Orphanet 74 C0392109
ICD10 via Orphanet 34 Q32.0

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 esophageal atresia/tracheoesophageal fistula. An important gene associated with Tracheomalacia is TEF (TEF, PAR BZIP Transcription Factor). Affiliated tissues include trachea, skin and pancreas.

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

Wikipedia : 76 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 51)
# Related Disease Score Top Affiliating Genes
1 tracheal stenosis 29.2 IYD SLC22A4 TEF
2 esophageal atresia/tracheoesophageal fistula 28.8 TBX4 TEF
3 bronchomalacia 11.3
4 kleefstra syndrome 10.9
5 2q37 deletion syndrome 10.9
6 esophagitis 10.3
7 tracheoesophageal fistula with or without esophageal atresia 10.2
8 esophageal atresia 10.2
9 tracheoesophageal fistula 10.1
10 goiter 10.0
11 laryngomalacia 10.0
12 tracheobronchial stenosis, congenital 10.0
13 congenital tracheal stenosis 10.0
14 mediastinitis 9.9
15 achalasia 9.9
16 mounier-kuhn syndrome 9.9
17 tracheobronchomalacia 9.9
18 tracheobronchomegaly 9.8
19 asthma 9.8
20 relapsing polychondritis 9.8
21 cervicitis 9.8
22 trachea leiomyoma 9.8 SLC22A4 TEF
23 amyotrophic lateral sclerosis 1 9.7
24 gastroesophageal reflux 9.7
25 larsen syndrome 9.7
26 kniest dysplasia 9.7
27 pancreas, annular 9.7
28 tetralogy of fallot 9.7
29 renal hypodysplasia/aplasia 1 9.7
30 vater/vacterl association 9.7
31 cystic fibrosis 9.7
32 hallermann-streiff syndrome 9.7
33 pulmonary disease, chronic obstructive 9.7
34 aspergillosis 9.7
35 alacrima, achalasia, and mental retardation syndrome 9.7
36 adult respiratory distress syndrome 9.7
37 laryngotracheitis 9.7
38 multinodular goiter 9.7
39 megaesophagus 9.7
40 endemic goiter 9.7
41 vacterl association 9.7
42 ventricular septal defect 9.7
43 lateral sclerosis 9.7
44 aspiration pneumonitis 9.7
45 laryngitis 9.7
46 amyloidosis 9.7
47 dextrocardia 9.7
48 idiopathic achalasia 9.7
49 mucopolysaccharidoses 9.7
50 right aortic arch 9.7

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 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: congenital tracheomalacia

Genetic Tests for Tracheomalacia

Genetic tests related to Tracheomalacia:

# Genetic test Affiliating Genes
1 Tracheomalacia 29

Anatomical Context for Tracheomalacia

MalaCards organs/tissues related to Tracheomalacia:

41
Trachea, Skin, Pancreas

Publications for Tracheomalacia

Articles related to Tracheomalacia:

(show top 50) (show all 103)
# Title Authors Year
1
Successful Management of Acquired Tracheomalacia of Patients With Amyotrophic Lateral Sclerosis: A Report of Three Cases. ( 29765893 )
2018
2
Airway management during general anesthesia in an intellectually disabled patient with undiagnosed tracheomalacia. ( 29744388 )
2018
3
Achalasia with massive oesophageal dilation causing tracheomalacia and asthma symptoms. ( 29321968 )
2018
4
Serial fiber optic bronchoscopy (FOB) to predict the need of tracheostomy in tracheomalacia after thyroidectomy in long standing goiter. ( 29524827 )
2018
5
Pediatric tracheomalacia and the perioperative anesthetic management of thoracoscopic posterior tracheopexy. ( 29962064 )
2018
6
Thoracoscopic posterior tracheopexy during primary esophageal atresia repair: a new approach to prevent tracheomalacia complications. ( 29804792 )
2018
7
Descending Aortopexy and Posterior Tracheopexy for Severe Tracheomalacia and Left Mainstem Bronchomalacia. ( 29524603 )
2018
8
Tracheobronchoplasty for tracheomalacia. ( 29707504 )
2018
9
Bronchoscopic assessments and clinical outcomes in pediatric patients with tracheomalacia and bronchomalacia. ( 29124401 )
2018
10
Minimally Invasive Surgical Approach for Posterior Tracheopexy to Treat Severe Tracheomalacia: Lessons Learned from Initial Case Series. ( 29975595 )
2018
11
Can high flow nasal cannula be used in a pediatric patient with tracheomalacia? ( 29136346 )
2018
12
Laryngomalacia, Tracheomalacia and Bronchomalacia. ( 29622320 )
2018
13
Computational modeling of airway instability and collapse in tracheomalacia. ( 28424075 )
2017
14
Aberrant right subclavian artery syndrome manifesting as focal tracheomalacia. ( 28474661 )
2017
15
Posterior Tracheopexy for Severe Tracheomalacia Associated with Esophageal Atresia (EA): Primary Treatment at the Time of Initial EA Repair versus Secondary Treatment. ( 29379786 )
2017
16
Posterior tracheopexy for severe tracheomalacia. ( 28385426 )
2017
17
Three-dimensional printing of external airway splints for tracheomalacia. ( 28449431 )
2017
18
Mediastinal Tracheostoma for Treatment of Tracheostenosis after Tracheostomy in a Patient with Mucopolysaccharidosis-Induced Tracheomalacia. ( 29158939 )
2017
19
Esophageal Atresia/Tracheoesophageal Fistula Repair Complicated by Tracheomalacia: A Case Report of Successful Management of Respiratory Distress Using Caudal Morphine. ( 28410264 )
2017
20
External airway splint to treat tracheomalacia following laryngotracheal reconstruction. ( 28167015 )
2017
21
Use of a biodegradable, oversized stent in a child with tracheomalacia secondary to vascular external compression. ( 28281415 )
2017
22
Bronchoscopy as a screening tool for symptomatic tracheomalacia in oesophageal atresia. ( 29217321 )
2017
23
Home high-flow nasal cannula as a treatment for severe tracheomalacia: A pediatric case report. ( 28504355 )
2017
24
Treatment of Severe Acquired Tracheomalacia With a Patient-Specific, 3D-Printed, Permanent Tracheal Splint. ( 28125750 )
2017
25
Paediatric tracheomalacia - A review of clinical features and comparison of diagnostic imaging techniques. ( 28583509 )
2017
26
All that wheezes is not asthma: adult tracheomalacia resulting from innominate artery compression. ( 27377076 )
2016
27
Tracheomalacia in a patient with tracheobronchial amyloidosis. ( 27478146 )
2016
28
Tracheomalacia and recurrent exacerbations of chronic obstructive pulmonary disease: a case report and review of the literature. ( 27987292 )
2016
29
Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses. ( 27450368 )
2016
30
Tracheal suspension by using 3-dimensional printed personalized scaffold in a patient with tracheomalacia. ( 28066613 )
2016
31
Pediatric tracheomalacia. ( 27301602 )
2016
32
Tracheomalacia Due to Esophageal Achalasia. ( 27364977 )
2016
33
Recurrent spontaneous pneumomediastinum in a child with tracheomalacia. ( 27723958 )
2016
34
Posterior Mesh Tracheoplasty for Cervical Tracheomalacia: A Novel Trachea-Preserving Technique. ( 26694287 )
2016
35
Ex vivo tracheomalacia model with 3D-printed external tracheal splint. ( 27531619 )
2016
36
External bioresorbable airway rigidification to treat refractory localized tracheomalacia. ( 26971821 )
2016
37
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
38
Nitinol stent insertion in tracheomalacia. ( 26944511 )
2016
39
Transtracheal single-point stent fixation in posttracheotomy tracheomalacia under cone-beam computer tomography guidance by transmural suturing with the Berci needle - a perspective on a new tool to avoid stent migration of Dumon stents. ( 26045666 )
2015
40
Thoracoscopic aortopexy for tracheomalacia. ( 25231705 )
2015
41
Airway obstruction due to tracheomalacia caused by innominate artery compression and a kyphotic cervical spine. ( 25639407 )
2015
42
Continuous rocuronium administration for tracheomalacia. ( 26223574 )
2015
43
Controlled Trachea Suspension for Tracheomalacia After Resection of Large Anterior Mediastinal Mass. ( 26046890 )
2015
44
An Update on Diagnosis of Tracheomalacia in Children. ( 26276910 )
2015
45
Management of tracheomalacia in an infant with Tetralogy of Fallot. ( 25937651 )
2015
46
Tracheomalacia in Adults with Cystic Fibrosis: Determination of Prevalence and Severity with Dynamic Cine CT. ( 25997140 )
2015
47
Paediatric Tracheomalacia. ( 25962857 )
2015
48
Evaluation of aortopexy in the management of severe tracheomalacia after esophageal atresia repair. ( 24446971 )
2015
49
Tracheomalacia is associated with lower FEV1 and Pseudomonas acquisition in children with CF. ( 24166775 )
2014
50
Tracheomalacia. ( 24295659 )
2014

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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