MCID: TRC097
MIFTS: 44

Tracheomalacia

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

Aliases & Classifications for Tracheomalacia

MalaCards integrated aliases for Tracheomalacia:

Name: Tracheomalacia 12 6 43 15 71
Congenital Tracheomalacia 12 52 58 43 32
Congenital Major Airway Collapse 52 58
Tracheomalacia, Congenital 52
Type 1 Tracheomalacia 52

Characteristics:

Orphanet epidemiological data:

58
congenital tracheomalacia
Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060313
SNOMED-CT 67 95467005
ICD10 32 Q32.0
MESH via Orphanet 44 C557675
ICD10 via Orphanet 33 Q32.0
UMLS via Orphanet 72 C0392109
Orphanet 58 ORPHA95430
UMLS 71 C0392109 C0948187

Summaries for Tracheomalacia

NIH Rare Diseases : 52 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 mediastinitis. An important gene associated with Tracheomalacia is TEF (TEF Transcription Factor, PAR BZIP Family Member), and among its related pathways/superpathways is Ion channel transport. The drugs Caffeine and Calcium have been mentioned in the context of this disorder. Affiliated tissues include trachea, thyroid and skin, and related phenotypes are digestive/alimentary and renal/urinary system

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

Wikipedia : 74 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 209)
# Related Disease Score Top Affiliating Genes
1 tracheal stenosis 31.1 TEF TBX4 SLC22A4 GALNS
2 mediastinitis 30.2 TEF ATP4A ATP12A
3 kniest dysplasia 30.2 GALNS COL2A1
4 aspiration pneumonitis 29.8 TEF SLC22A4 ATP4A ATP12A
5 esophageal disease 29.7 TEF ATP4A ATP12A
6 bronchomalacia 11.6
7 chromosome 2q37 deletion syndrome 11.2
8 xia-gibbs syndrome 11.2
9 kleefstra syndrome 11.2
10 esophageal atresia 10.7
11 tracheoesophageal fistula with or without esophageal atresia 10.6
12 tracheobronchomalacia 10.5
13 goiter 10.4
14 gastroesophageal reflux 10.4
15 pulmonary disease, chronic obstructive 10.4
16 spondyloepiphyseal dysplasia congenita 10.4 GALNS COL2A1
17 synovial chondromatosis 10.3 SOX9 COL2A1
18 laryngomalacia 10.3
19 respiratory failure 10.3
20 cyanosis, transient neonatal 10.3
21 pancreatic vasoactive intestinal peptide producing tumor 10.3 ATP4A ATP12A
22 hemangioma of intra-abdominal structure 10.3 ATP4A ATP12A
23 displacement of cardia through esophageal hiatus 10.3 ATP4A ATP12A
24 gastric hemangioma 10.3 ATP4A ATP12A
25 acquired gastric outlet stenosis 10.3 ATP4A ATP12A
26 angiodysplasia of intestine 10.3 ATP4A ATP12A
27 angiodysplasia 10.3 ATP4A ATP12A
28 benzylpenicillin allergy 10.3 ATP4A ATP12A
29 median arcuate ligament syndrome 10.3 ATP4A ATP12A
30 granulomatous gastritis 10.3 ATP4A ATP12A
31 bacterial esophagitis 10.3 ATP4A ATP12A
32 lingual goiter 10.3 ATP4A ATP12A
33 cascade stomach 10.3 ATP4A ATP12A
34 gastrojejunal ulcer 10.3 ATP4A ATP12A
35 fungal esophagitis 10.3 ATP4A ATP12A
36 gastric gastrinoma 10.3 ATP4A ATP12A
37 scoliosis 10.3
38 fungal gastritis 10.3 ATP4A ATP12A
39 superior mesenteric artery syndrome 10.3 ATP4A ATP12A
40 cervix erosion 10.3 ATP4A ATP12A
41 pneumatosis cystoides intestinalis 10.3 ATP4A ATP12A
42 dieulafoy lesion 10.3 ATP4A ATP12A
43 esophagus sarcoma 10.3 ATP4A ATP12A
44 esophagus melanoma 10.2 ATP4A ATP12A
45 polyposis, skin pigmentation, alopecia, and fingernail changes 10.2 ATP4A ATP12A
46 campomelic dysplasia 10.2 TBX4 SOX9 COL2A1
47 necrotizing gastritis 10.2 ATP4A ATP12A
48 central nervous system origin vertigo 10.2 ATP4A ATP12A
49 brachyolmia 10.2 SOX9 GALNS COL2A1
50 chronic laryngitis 10.2 ATP4A ATP12A

Graphical network of the top 20 diseases related to Tracheomalacia:



Diseases related to Tracheomalacia

Symptoms & Phenotypes for Tracheomalacia

MGI Mouse Phenotypes related to Tracheomalacia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.5 ANO1 ATP12A ATP4A COL2A1 FGF10 SLC22A4
2 renal/urinary system MP:0005367 9.17 ANO1 ATP12A COL2A1 FGF10 GALNS OSR1

Drugs & Therapeutics for Tracheomalacia

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

(show all 11)
# 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 Chelating Agents
4 Central Nervous System Stimulants
5 Anticoagulants
6 Calcium, Dietary
7 Caffeine citrate
8 Phosphodiesterase Inhibitors
9 Calamus
10 Adrenergic beta-Agonists
11 Adrenergic Agents

Interventional clinical trials:

(show all 15)
# 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 Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan Completed NCT03666403
9 F.R.O.N.T. Formula for Pre-operative Airway Assessment and Documentation Completed NCT02313168
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 Vocal and Swallowing Dysfunction Following Thyroid Surgery Not yet recruiting NCT04087447
15 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:

40
Trachea, Thyroid, Skin, Lung, Bone, Heart, Brain

Publications for Tracheomalacia

Articles related to Tracheomalacia:

(show top 50) (show all 1055)
# Title Authors PMID Year
1
Paediatric Tracheomalacia. 61 52
25962857 2016
2
An Update on Diagnosis of Tracheomalacia in Children. 61 52
26276910 2015
3
An Update on Tracheal and Airway Collapse in Dogs. 61
31864678 2020
4
Thoracoscopic aortopexy for symptomatic tracheobronchomalacia. 61
31826817 2020
5
The role of 3D printing in pediatric airway obstruction: A systematic review. 61
32035351 2020
6
Laryngeal, Tracheal, and Bronchial Disease in the Mucopolysaccharidoses: Endoscopic Study. 61
31936731 2020
7
Dynamic Tracheobronchial Compression in Steep Trendelenburg Position With Pneumoperitoneum for Robotic-Assisted Cystectomy: A Case Report. 61
31789827 2020
8
[Surgical treatment of extensive posttracheostomy tracheal stenosis using a new technique]. 61
31994504 2020
9
Tracheal opening manoeuvre (PEEP-20) in a patient with bronchopulmonary dysplasia and severe tracheobronchomalacia with neurally adjusted ventilatory assist (NAVA). 61
31969395 2020
10
Side effects and complications of injection laryngoplasty for treatment of congenital type 1 laryngeal clefts. 61
31968273 2020
11
Montgomery T-tube for management of tracheomalacia: Impact on voice-related quality of life. 61
31622032 2020
12
Aortopexy for the management of paediatric tracheomalacia - the Alder Hey experience. 61
31971119 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
Optimal duration of mechanical ventilation and influencing factors following mandibular distraction osteogenesis in infants with Pierre Robin sequence. 61
31860988 2019
16
Tracheomalacia in bronchopulmonary dysplasia: Trachealis hyper-relaxant responses to S-nitrosoglutathione in a hyperoxic murine model. 61
31486289 2019
17
Ultrashort Echo-Time MRI for the Assessment of Tracheomalacia in Neonates. 61
31862439 2019
18
A Case of Acute Type A Aortic Dissection with Double Aortic Arch. 61
31942214 2019
19
Patient-perceived Burden of Disease in Pediatric Relapsing Polychondritis. 61
31043550 2019
20
Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature. 61
31213073 2019
21
Airway anomalies in patients with craniosynostosis. 61
30456762 2019
22
Spontaneous Pneumomediastinum: Rare Complication of Tracheomalacia. 61
31722830 2019
23
Tracheobronchoplasty after a trial with a silicone Y-stent in a patient with Mounier-Kuhn syndrome. 61
31747002 2019
24
The use of expandable metallic airway stent in a baby with tracheomalacia: A case report. 61
31607740 2019
25
High-flow nasal cannula therapy for severe tracheomalacia associated with esophageal atresia. 61
31663238 2019
26
Tracheostomy: Experience at Tertiary Hospital. 61
31742024 2019
27
Thoracoscopic Posterior Tracheopexy Is a Feasible and Effective Treatment for Tracheomalacia. 61
31219396 2019
28
Spanish multicentre study on morbidity and pathogenicity of tracheal bronchus in children. 61
31328420 2019
29
[Caudal regional anesthesia: a safe anesthetic procedure for abdominal and inguinal surgery in newborns and toddlers]. 61
31626402 2019
30
Combination of vascularization and cilia formation for three-dimensional airway tissue engineering. 61
31081993 2019
31
ERS statement on tracheomalacia and bronchomalacia in children. 61
31320455 2019
32
Preclinical assessment of resorbable silk splints for the treatment of pediatric tracheomalacia. 61
30408198 2019
33
Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2. 61
31536832 2019
34
Exploring polycaprolactone in tracheal surgery: A scoping review of in-vivo studies. 61
31059931 2019
35
Are Fenestrated Tracheostomy Tubes Still Valuable? 61
31318610 2019
36
Intermediate-Term Outcomes of Slide Tracheoplasty in Pediatric Patients With Ring-Sling Complex. 61
31445914 2019
37
Should Proton Pump Inhibitors be Systematically Prescribed in Patients With Esophageal Atresia After Surgical Repair? 61
30889131 2019
38
Biodegradable airway stents: Novel treatment of airway obstruction in children. 61
31199878 2019
39
Neonatal factors predictive for respiratory and gastro-intestinal morbidity after esophageal atresia repair. 61
30146459 2019
40
Sudden Airway Collapse After Pneumoperitoneum With Undiagnosed Tracheomalacia in a Morbidly Obese 12-Year-Old Boy Undergoing Laparoscopic Cholecystectomy: A Case Report. 61
30575611 2019
41
Tracheomalacia as Complication of Stenting for Esophageal Injury After Transsternal Approach to High Thoracic Vertebral Metastasis. 61
30721772 2019
42
Patient characteristics and outcomes of a home mechanical ventilation program in a developing country. 61
31031340 2019
43
Tailored Management of Airway Abnormalities in Children with Congenital Single Functional Lung. 61
30528176 2019
44
Anaesthetic management of an infant with tracheomalacia scheduled for computed tomography angiography: A challenge. 61
31000898 2019
45
Endobronchial Ultrasound for Benign Tracheal Stenosis. 61
30231264 2019
46
Paediatric tracheostomy: A modified technique and its outcomes, results from a South Indian tertiary care. 61
30578997 2019
47
Clinical Characteristics of Tracheomalacia in Infants: Author's Reply. 61
30955007 2019
48
Ultralow Dose Dynamic Expiratory Computed Tomography for Evaluation of Tracheomalacia. 61
30531547 2019
49
Clinical Characteristics of Tracheomalacia in Infants. 61
30955006 2019
50
Quantitative Assessment of Regional Dynamic Airway Collapse in Neonates via Retrospectively Respiratory-Gated 1 H Ultrashort Echo Time MRI. 61
30252988 2019

Variations for Tracheomalacia

ClinVar genetic disease variations for Tracheomalacia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(3;5)(q23;q13)dnTranslocation Likely pathogenic 267884
2 46;XY;t(4;14)(p14;q11.2)dnTranslocation Uncertain significance 267927

Expression for Tracheomalacia

Search GEO for disease gene expression data for Tracheomalacia.

Pathways for Tracheomalacia

Pathways related to Tracheomalacia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.42 ATP4A ATP12A ANO7 ANO1

GO Terms for Tracheomalacia

Biological processes related to Tracheomalacia according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 ZBED1 TEF TBX4 SOX9 OSR1 FGF10
2 ion transmembrane transport GO:0034220 9.88 ATP4A ATP12A ANO7 ANO1
3 positive regulation of epithelial cell proliferation GO:0050679 9.65 SOX9 OSR1 FGF10
4 tissue homeostasis GO:0001894 9.62 SOX9 COL2A1
5 morphogenesis of an epithelium GO:0002009 9.61 TBX4 SOX9
6 cartilage condensation GO:0001502 9.6 SOX9 COL2A1
7 epithelial tube branching involved in lung morphogenesis GO:0060441 9.59 SOX9 FGF10
8 cellular sodium ion homeostasis GO:0006883 9.58 ATP4A ATP12A
9 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.57 ATP4A ATP12A
10 sodium ion export across plasma membrane GO:0036376 9.56 ATP4A ATP12A
11 cellular potassium ion homeostasis GO:0030007 9.55 ATP4A ATP12A
12 mesonephros development GO:0001823 9.54 OSR1 FGF10
13 negative regulation of epithelial cell differentiation GO:0030857 9.52 SOX9 OSR1
14 embryonic skeletal joint morphogenesis GO:0060272 9.51 OSR1 COL2A1
15 notochord development GO:0030903 9.49 SOX9 COL2A1
16 otic vesicle development GO:0071599 9.46 SOX9 COL2A1
17 lacrimal gland development GO:0032808 9.43 SOX9 FGF10
18 chondrocyte differentiation GO:0002062 9.43 SOX9 OSR1 COL2A1
19 otic vesicle formation GO:0030916 9.4 SOX9 FGF10
20 anterior head development GO:0097065 9.37 SOX9 COL2A1
21 Harderian gland development GO:0070384 9.32 SOX9 FGF10
22 ureter urothelium development GO:0072190 9.16 SOX9 OSR1
23 limb morphogenesis GO:0035108 9.13 TBX4 FGF10 COL2A1
24 limb bud formation GO:0060174 8.8 SOX9 FGF10 COL2A1

Molecular functions related to Tracheomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular calcium activated chloride channel activity GO:0005229 9.26 ANO7 ANO1
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP4A ATP12A
3 potassium-transporting ATPase activity GO:0008556 8.96 ATP4A ATP12A
4 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

Sources for Tracheomalacia

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
Content
Loading form....