MCID: TRC035
MIFTS: 31

Tracheal Agenesis

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Tracheal Agenesis

MalaCards integrated aliases for Tracheal Agenesis:

Name: Tracheal Agenesis 20 58
Congenital Tracheal Agenesis 20

Characteristics:

Orphanet epidemiological data:

58
tracheal agenesis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),<1/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

Classifications:

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


External Ids:

MESH via Orphanet 45 C536975
ICD10 via Orphanet 33 Q32.1
UMLS via Orphanet 71 C1261567
Orphanet 58 ORPHA3346

Summaries for Tracheal Agenesis

GARD : 20 Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color ( cyanosis ) and no audible cry shortly after birth. The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association. Surgery to repair the trachea may be attempted; however, the long-term outlook is generally poor in most cases.

MalaCards based summary : Tracheal Agenesis, also known as congenital tracheal agenesis, is related to respiratory failure and newborn respiratory distress syndrome. An important gene associated with Tracheal Agenesis is SFTPB (Surfactant Protein B), and among its related pathways/superpathways are Diseases of metabolism and Surfactant metabolism. Affiliated tissues include trachea, lung and fetal lung, and related phenotypes are respiratory insufficiency and polyhydramnios

Wikipedia : 73 Tracheal agenesis (also known as tracheal atresia) is a rare birth defect with a prevalence of less than... more...

Related Diseases for Tracheal Agenesis

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 respiratory failure 29.9 SFTPD SFTPB
2 newborn respiratory distress syndrome 29.4 SFTPD SFTPB
3 tracheoesophageal fistula with or without esophageal atresia 10.5
4 polyhydramnios 10.4
5 esophageal atresia 10.3
6 vacterl association 10.3
7 anus, imperforate 10.2
8 cyanosis, transient neonatal 10.2
9 duodenal atresia 10.1
10 renal dysplasia 10.1
11 vater/vacterl association 10.1
12 ventricular septal defect 10.1
13 heart septal defect 10.1
14 anoxia 10.1
15 coarctation of aorta 10.0
16 tetralogy of fallot 10.0
17 hypotonia 10.0
18 meckel diverticulum 9.8
19 pyloric atresia 9.8
20 respiratory distress syndrome in premature infants 9.8
21 genitourinary tract anomalies 9.8
22 tracheomalacia 9.8
23 cerebellar hypoplasia 9.8
24 synostosis 9.8
25 oligohydramnios 9.8
26 double outlet right ventricle 9.8
27 mediastinitis 9.8
28 16p12.2 recurrent deletion 9.8
29 horseshoe kidney 9.8
30 laryngeal cleft 9.8
31 cerebral hypoxia 9.8
32 pulmonary interstitial emphysema 9.8 SFTPD SFTPB
33 pulmonary immaturity 9.8 SFTPD SFTPB
34 neonatal respiratory failure 9.8 SFTPD SFTPB
35 interstitial pneumonitis, desquamative, familial 9.8 SFTPD SFTPB
36 acute interstitial pneumonia 9.8 SFTPD SFTPB
37 pneumonia 9.8 SFTPD SFTPB
38 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.8 SFTPD SFTPB
39 idiopathic interstitial pneumonia 9.8 SFTPD SFTPB
40 pulmonary alveolar proteinosis 9.7 SFTPD SFTPB
41 bacterial pneumonia 9.7 SFTPD SFTPB
42 interstitial lung disease 9.7 SFTPD SFTPB
43 lung disease 9.7 SFTPD SFTPB
44 adult respiratory distress syndrome 9.7 SFTPD SFTPB
45 pulmonary disease, chronic obstructive 9.6 SFTPD SFTPB
46 pulmonary fibrosis, idiopathic 9.6 SFTPD SFTPB
47 lung cancer susceptibility 3 9.5 SFTPD SFTPB

Graphical network of the top 20 diseases related to Tracheal Agenesis:



Diseases related to Tracheal Agenesis

Symptoms & Phenotypes for Tracheal Agenesis

Human phenotypes related to Tracheal Agenesis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
2 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
3 abnormal cardiac septum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001671
4 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
5 tracheal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100682

Drugs & Therapeutics for Tracheal Agenesis

Search Clinical Trials , NIH Clinical Center for Tracheal Agenesis

Genetic Tests for Tracheal Agenesis

Anatomical Context for Tracheal Agenesis

MalaCards organs/tissues related to Tracheal Agenesis:

40
Trachea, Lung, Fetal Lung, Heart, Kidney

Publications for Tracheal Agenesis

Articles related to Tracheal Agenesis:

(show top 50) (show all 164)
# Title Authors PMID Year
1
Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases. 61
33805876 2021
2
Tracheal Agenesis with Bronchoesophageal Fistula. 61
33657297 2021
3
Tracheal anomalies associated with Down syndrome: A systematic review. 61
33434377 2021
4
The diagnostic role of multidetector computed tomography in congenital tracheal agenesis. 61
33011104 2020
5
Prenatal diagnosis of pulmonary artery sling associated with tracheal agenesis: A case report. 61
33145790 2020
6
Tracheal Agenesis: Vertical Division of the Native Esophagus - A Novel Surgical Approach and Review of the Literature. 61
33030043 2020
7
Tracheal agenesis clinical presentation in a preterm infant: Prenatal MRI difficulties and autopsy findings. 61
32685079 2020
8
CHAOS: A fetal autopsy report. 61
33110882 2020
9
Correction to: Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report. 61
32795314 2020
10
Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report. 61
32650808 2020
11
Tracheal agenesis with esophageal atresia: an autopsy case report of a variant incompatible with life. 61
31314628 2020
12
Criticality in tailoring the treatment for tracheoesophageal fistulas in children. 61
31707468 2020
13
Management of CHAOS by intact cord resuscitation: case report and literature review. 61
29842812 2019
14
Causes of death shortly after delivery and medical malpractice claims in congenital high airway obstruction syndrome: Review of the literature. 61
31442942 2019
15
Congenital tracheal malformations. 61
29846792 2018
16
Tracheal agenesis in a new born: lessons learnt. 61
29914900 2018
17
Tracheal agenesis: optimization of computed tomography diagnosis by airway ventilation. 61
29147912 2018
18
Anesthetic Management of an Infant With Postnatally Diagnosed Tracheal Agenesis Undergoing Tracheal Reconstruction: A Case Report. 61
28719384 2017
19
Case-based discussion from the neonatal intensive care unit: a case of an intentional oesophageal intubation. 61
29222094 2017
20
Clinical presentation and airway management of tracheal atresia: A systematic review. 61
28964311 2017
21
Life-Saving Esophageal Intubation in Neonate With Undiagnosed Tracheal Agenesis: A Case Report. 61
28410262 2017
22
Tracheal agenesis: Salvaging the unsalvageable. 61
28242020 2017
23
Neonatal esophageal trachealization and esophagocarinoplasty in the treatment of flow-limited Floyd II tracheal agenesis. 61
28526113 2017
24
Two case reports of unexpected tracheal agenesis in the neonate: 3 C's beyond algorithms for difficult airway management. 61
28178944 2017
25
[CHAOS in neonatal emergency care? : Tracheal agenesis in the obstetric theatre]. 61
27612864 2016
26
Tracheal agenesis: A report of two cases. 61
27424553 2016
27
CHAOS. 61
27298534 2016
28
Tracheal Atresia with Segmental Esophageal Duplication: An Unusual Anatomic Arrangement. 61
26367770 2016
29
Tracheal agenesis, a frightening scenario. 61
26740311 2016
30
Tracheal Agenesis Reconstruction with External Esophageal Stenting: Postoperative Results and Complications. 61
26665117 2015
31
Long-term outcomes of four patients with tracheal agenesis who underwent airway and esophageal reconstruction. 61
26590474 2015
32
Tracheal agenesis: a challenging prenatal diagnosis-contribution of fetal MRI. 61
25821616 2015
33
Fetal phenotype associated with the 22q11 deletion. 61
25111715 2014
34
Oesophageal intubation and ventilation as initial airway support of newborn infant with tracheal agenesis. 61
25500849 2014
35
Tracheal Agenesis with Tracheo-oesophageal Fistula. 61
24701523 2014
36
TACRD and VACTERL associations in a fetus: case report and review of the literature. 61
24113157 2013
37
Tracheal agenesis with tracheoesophageal fistulae: fetal MRI diagnosis with confirmation by ultrasound during an ex utero intrapartum therapy (EXIT) delivery and postdelivery MRI. 61
23567909 2013
38
[Unexpected respiratory distress in the delivery room--a rare differential diagnosis for the obstetrician and neonatologist]. 61
23982941 2013
39
Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association. 61
23901199 2013
40
Jejunal pedicle graft reconstruction of the esophagus in a child with tracheal agenesis. 61
22648189 2012
41
Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature. 61
21918809 2012
42
[Case of trachea agenesis managed with esophageal intubation]. 61
22338864 2012
43
Isolated congenital tracheal stenosis in a preterm newborn. 61
21590265 2011
44
Tracheal agenesis: A rare but fatal congenital anomaly. 61
22363177 2011
45
Role of the esophagus in surgery for tracheal agenesis. 61
21341179 2011
46
Signaling through BMP receptors promotes respiratory identity in the foregut via repression of Sox2. 61
21303850 2011
47
A long-term survival case of tracheal agenesis: management for tracheoesophageal fistula and esophageal reconstruction. 61
20857299 2011
48
[Case of tracheal agenesis found during surgery]. 61
21229692 2010
49
Tracheal agenesis: a rare cause of unsuccessful tracheal intubation during resuscitation. 61
21901957 2010
50
5q11.2 deletion in a patient with tracheal agenesis. 61
20551993 2010

Variations for Tracheal Agenesis

Copy number variations for Tracheal Agenesis from CNVD:

7 (show all 15)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 98906 16 21700000 27600000 Deletion Tracheal agenesis
2 200155 14 53486204 53493304 Deletion BMP4 Tracheal agenesis
3 200156 4 123967312 124038840 Deletion FGF2 Tracheal agenesis
4 200157 16 85101633 85105571 Deletion FOXF1 Tracheal agenesis
5 200158 4 79197747 79684447 Deletion FRAS1 Tracheal agenesis
6 200159 13 38159172 38359267 Deletion FREM2 Tracheal agenesis
7 200160 2 121271336 121449155 Deletion GLI2 Tracheal agenesis
8 200161 7 41967072 42243321 Deletion GLI3 Tracheal agenesis
9 200162 7 27147520 27149812 Deletion HOXA5 Tracheal agenesis
10 200163 17 52026058 52027950 Deletion NOG Tracheal agenesis
11 200165 17 35718971 35820467 Deletion RARA Tracheal agenesis
12 200166 3 25444757 25614424 Deletion RARB Tracheal agenesis
13 200167 7 155285496 155297728 Deletion SHH Tracheal agenesis
14 200168 3 182912415 182914917 Deletion SOX2 Tracheal agenesis
15 200169 14 134240757 134272042 Deletion TTF1 Tracheal agenesis

Expression for Tracheal Agenesis

Search GEO for disease gene expression data for Tracheal Agenesis.

Pathways for Tracheal Agenesis

Pathways related to Tracheal Agenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.12 SFTPD SFTPB
2
Show member pathways
10.59 SFTPD SFTPB
3
Show member pathways
10.02 SFTPD SFTPB

GO Terms for Tracheal Agenesis

Cellular components related to Tracheal Agenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.16 SFTPD SFTPB
2 multivesicular body GO:0005771 8.96 SFTPD SFTPB
3 clathrin-coated endocytic vesicle GO:0045334 8.62 SFTPD SFTPB

Biological processes related to Tracheal Agenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 8.96 SFTPD SFTPB
2 respiratory gaseous exchange GO:0007585 8.62 SFTPD SFTPB

Sources for Tracheal Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....