MCID: TRC035
MIFTS: 33

Tracheal Agenesis

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Tracheal Agenesis

MalaCards integrated aliases for Tracheal Agenesis:

Name: Tracheal Agenesis 53 59
Congenital Tracheal Agenesis 53

Characteristics:

Orphanet epidemiological data:

59
tracheal agenesis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),<1/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA3346
MESH via Orphanet 45 C536975
UMLS via Orphanet 74 C1261567
ICD10 via Orphanet 34 Q32.1

Summaries for Tracheal Agenesis

NIH Rare Diseases : 53 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 tracheoesophageal fistula and pulmonary immaturity. 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, skin and lung, and related phenotypes are respiratory insufficiency and polyhydramnios

Related Diseases for Tracheal Agenesis

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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
2 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
3 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
4 tracheal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100682
5 abnormality of the cardiac septa 59 Very frequent (99-80%)
6 abnormal cardiac septum morphology 32 hallmark (90%) HP:0001671

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:

41
Trachea, Skin, Lung, Fetal Lung

Publications for Tracheal Agenesis

Articles related to Tracheal Agenesis:

(show top 50) (show all 106)
# Title Authors Year
1
Tracheal agenesis in a new born: lessons learnt. ( 29914900 )
2018
2
Tracheal agenesis: optimization of computed tomography diagnosis by airway ventilation. ( 29147912 )
2018
3
Neonatal esophageal trachealization and esophagocarinoplasty in the treatment of flow-limited Floyd II tracheal agenesis. ( 28526113 )
2017
4
Tracheal agenesis: Salvaging the unsalvageable. ( 28242020 )
2017
5
Life-Saving Esophageal Intubation in Neonate With Undiagnosed Tracheal Agenesis: A Case Report. ( 28410262 )
2017
6
Anesthetic Management of an Infant With Postnatally Diagnosed Tracheal Agenesis Undergoing Tracheal Reconstruction: A Case Report. ( 28719384 )
2017
7
Two case reports of unexpected tracheal agenesis in the neonate: 3 C's beyond algorithms for difficult airway management. ( 28178944 )
2017
8
Tracheal agenesis, a frightening scenario. ( 26740311 )
2016
9
Tracheal agenesis: A report of two cases. ( 27424553 )
2016
10
Tracheal Agenesis Reconstruction with External Esophageal Stenting: Postoperative Results and Complications. ( 26665117 )
2015
11
Tracheal agenesis: a challenging prenatal diagnosis-contribution of fetal MRI. ( 25821616 )
2015
12
&amp;quot;Tracheal agenesis with segmental oesophageal duplication -an unusual anatomic arrangement&amp;quot;. ( 26367770 )
2015
13
Long-term outcomes of four patients with tracheal agenesis who underwent airway and esophageal reconstruction. ( 26590474 )
2015
14
Tracheal Agenesis with Tracheo-oesophageal Fistula. ( 24701523 )
2014
15
Oesophageal intubation and ventilation as initial airway support of newborn infant with tracheal agenesis. ( 25500849 )
2014
16
Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association. ( 23901199 )
2013
17
Tracheal agenesis with tracheoesophageal fistulae: fetal MRI diagnosis with confirmation by ultrasound during an ex utero intrapartum therapy (EXIT) delivery and postdelivery MRI. ( 23567909 )
2013
18
Jejunal pedicle graft reconstruction of the esophagus in a child with tracheal agenesis. ( 22648189 )
2012
19
Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature. ( 21918809 )
2012
20
A long-term survival case of tracheal agenesis: management for tracheoesophageal fistula and esophageal reconstruction. ( 20857299 )
2011
21
Role of the esophagus in surgery for tracheal agenesis. ( 21341179 )
2011
22
Tracheal agenesis: A rare but fatal congenital anomaly. ( 22363177 )
2011
23
Tracheal agenesis with bifurcating common airway arising from midesophagus. ( 20001301 )
2010
24
Three-stage reconstruction of the airway and alimentary tract in a case of tracheal agenesis. ( 20494075 )
2010
25
Tracheal agenesis: a rare cause of unsuccessful tracheal intubation during resuscitation. ( 21901957 )
2010
26
Tracheal agenesis: case report with review of the current scenario and management reported over the past two decades. ( 19452441 )
2010
27
5q11.2 deletion in a patient with tracheal agenesis. ( 20551993 )
2010
28
Tracheal agenesis as a rare cause of difficult intubation in a newborn with respiratory distress: a case report. ( 19946583 )
2009
29
Prenatal diagnosis of type 1 tracheal agenesis without tracheoesophageal fistula. ( 19708182 )
2009
30
Use of computed tomography to categorize the type of tracheal agenesis. ( 19433196 )
2009
31
Tracheal agenesis - a report of two cases. ( 22470671 )
2009
32
Congenital high airway obstruction syndrome due to complete tracheal agenesis: an accident of nature with clues for tracheal development and lessons in management. ( 19816035 )
2009
33
Failed resuscitation of a newborn due to congenital tracheal agenesis: a case report. ( 19829934 )
2009
34
A case of tracheal agenesis surviving without mechanical ventilation after external esophageal stenting. ( 18926230 )
2008
35
Bmp4 is required for tracheal formation: a novel mouse model for tracheal agenesis. ( 18692041 )
2008
36
Tracheal agenesis without esophageal fistula: genetic, resuscitative, and pathological issues. ( 18206442 )
2008
37
Tracheal agenesis: perioperative management of one stage correction. ( 18811835 )
2008
38
Anaesthetic management of tracheal agenesis. ( 19079381 )
2008
39
Tracheal agenesis and esophageal atresia with proximal and distal bronchoesophageal fistulas. ( 18675618 )
2008
40
Tracheal agenesis. ( 18306585 )
2007
41
Management of congenital tracheal agenesis. ( 17458559 )
2007
42
Tracheal agenesis type B: further evidence to a lethal congenital tracheal malformation. ( 17618898 )
2007
43
Tracheal agenesis: two case reports. ( 16198430 )
2006
44
CT of tracheal agenesis. ( 16788813 )
2006
45
Tracheal agenesis. ( 23120152 )
2005
46
Tracheal agenesis with unique anatomy. ( 16226975 )
2005
47
Tracheal agenesis: management of the first 10 months of life. ( 15330961 )
2004
48
Complex double-outlet right ventricle repair in a neonate with complete tracheal agenesis. ( 14752450 )
2004
49
Tracheal agenesis in newborns. ( 15475795 )
2004
50
Tracheal agenesis: a case report. ( 14696792 )
2003

Variations for Tracheal Agenesis

Copy number variations for Tracheal Agenesis from CNVD:

7 (show all 15)
# CNVD ID Chromosom 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 SFTPB SFTPD
2
Show member pathways
10.59 SFTPB SFTPD
3
Show member pathways
10.02 SFTPB SFTPD

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 endoplasmic reticulum membrane GO:0005789 9.26 SFTPB SFTPD
2 lysosome GO:0005764 9.16 SFTPB SFTPD
3 multivesicular body GO:0005771 8.96 SFTPB SFTPD
4 clathrin-coated endocytic vesicle GO:0045334 8.62 SFTPB SFTPD

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 SFTPB SFTPD
2 respiratory gaseous exchange GO:0007585 8.62 SFTPB SFTPD

Sources for Tracheal Agenesis

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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