MCID: LNG054
MIFTS: 25

Lung Agenesis malady

Categories: Rare diseases, Respiratory diseases, Fetal diseases

Aliases & Classifications for Lung Agenesis

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Lung Agenesis:

Name: Lung Agenesis 45
Pulmonary Agenesis 45 51
Unilateral Lobar Pulmonary Agenesis 45
 
Congenital Absence of Lung 65
Congenital Lung Agenesis 45
Unilateral Lung Agenesis 45

Classifications:



External Ids:

Orphanet51 984
ICD10 via Orphanet28 Q33.3
UMLS via Orphanet66 C0265780
ICD1027 Q33.3
UMLS65 C0265780

Summaries for Lung Agenesis

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MalaCards based summary: Lung Agenesis, also known as pulmonary agenesis, is related to microphthalmia, syndromic 9 and manouvrier syndrome. An important gene associated with Lung Agenesis is TBX5 (T-Box 5). Affiliated tissues include lung, bone and breast.

Related Diseases for Lung Agenesis

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia, syndromic 911.4
2manouvrier syndrome11.1
3esophageal atresia9.9
4esophagitis9.9
5ventricular septal defect9.8
6tracheal stenosis9.8
7dextrocardia9.8
8asthma9.6
9allergic rhinitis9.6
10holt-oram syndrome9.6
11heart disease9.6
12patent ductus arteriosus9.6
13pneumothorax9.6
14rhinitis9.6
15mediastinitis9.6
16duodenitis9.6
17duodenal atresia9.6
18tracheoesophageal fistula9.6
19tricuspid atresia9.6

Graphical network of diseases related to Lung Agenesis:



Diseases related to lung agenesis

Symptoms for Lung Agenesis

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Drugs & Therapeutics for Lung Agenesis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21386

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety Study of Autologous Bone Marrow Stromal Cells With Modification by Hepatocyte Growth Factor to Treat SilicosisCompletedNCT01977131Phase 1, Phase 2
2Safety of Stem Cells Intrabronchial Instillation for SilicosisCompletedNCT01239862Phase 1
3Safety Study of Bone-marrow Derived Mesenchymal Stromal Cells Associated With Endobronchial Valves in EmphysemaCompletedNCT01872624
4Lung Inflammation and Lung Metastases From Breast CancerActive, not recruitingNCT01182519
5Validation of a Multi-gene Test for Lung Cancer RiskActive, not recruitingNCT01130285

Search NIH Clinical Center for Lung Agenesis

Genetic Tests for Lung Agenesis

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Anatomical Context for Lung Agenesis

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MalaCards organs/tissues related to Lung Agenesis:

33
Lung, Bone, Breast, Prostate, Bone marrow, Testes, Endothelial

Animal Models for Lung Agenesis or affiliated genes

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Publications for Lung Agenesis

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Articles related to Lung Agenesis:

(show all 43)
idTitleAuthorsYear
1
Left lung agenesis discovered by a spontaneous pneumothorax in a 20-year-old girl. (27051112)
2016
2
Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children. (26891022)
2016
3
Transcatheter Amplatzer Duct Occluder II closure of perimembranous ventricular septal defect with right lung agenesis. (25135329)
2014
4
Persistent Cloaca associated with Unilateral Lung Agenesis- A Rare Presentation. (26023493)
2014
5
Neonatal repair of total anomalous pulmonary venous connection and lung agenesis. (24585319)
2014
6
Prenatal diagnosis of fetal unilateral lung agenesis complicated with cardiac malposition. (23530545)
2013
7
First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome. (22309948)
2012
8
Complete right lung agenesis presenting with bronchial asthma and allergic rhinitis. (23001088)
2012
9
Complete right lung agenesis with dextrocardia: an unusual cause of respiratory distress. (23393637)
2012
10
Left lung agenesis associated with common origin of both coronary arteries. (23284132)
2012
11
Right lung agenesis and dextrocardia in a paucisymptomatic 11-year-old child. (22088223)
2012
12
Aphallia, lung agenesis and multiple defects of blastogenesis. (21204662)
2011
13
Balloon dilatation of tracheal restenosis in a patient with unilateral lung agenesis - an anesthetic challenge. (21793985)
2011
14
Repair of a ventricular septal defect in a patient with left lung agenesis. (21810119)
2011
15
Cardiac defect with diaphragmatic hernia and left lung agenesis--heart disease and other anomalies. (20922633)
2010
16
Unilateral left lung agenesis with crossed-ectopic right lower lobe combined tricuspid atresia diagnosed by ECG gated computed tomography. (19660389)
2010
17
Postpneumonectomy-like syndrome in an infant with right lung agenesis and left main bronchus hypoplasia. (19379854)
2009
18
Tracheal reconstruction in children with unilateral lung agenesis or severe hypoplasia. (19632424)
2009
19
Unilateral lung agenesis: coincidence or association with maternal valproate therapy? (19825029)
2009
20
Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome? (19938090)
2009
21
Right lung agenesis. (19858680)
2008
22
Adult presentation of right lung agenesis and left pulmonary artery sling. (17963072)
2008
23
MDCT and 3D evaluation of type 2 hypoplastic pulmonary artery sling associated with right lung agenesis, hypoplastic aortic arch, and long segment tracheal stenosis. (18043391)
2007
24
Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene. (17366586)
2007
25
Left atrial approach to close the atrial septal defect type II in case of right lung agenesis with extreme dextroversion. (17669789)
2007
26
Unilateral lung agenesis--detrimental roles of surrounding vessels. (17238192)
2007
27
Complete myocardial revascularization and Dor technique in a case of left lung agenesis. (16434280)
2006
28
Pregnancy in a woman with unilateral lung agenesis. (15280115)
2004
29
Esophageal atresia, duodenal atresia, and unilateral lung agenesis: a case report. (15300548)
2004
30
Mitral valve repair in a 55-year-old man with left lung agenesis. (15111192)
2004
31
Esophageal atresia associated with tracheal stenosis and right lung agenesis: report of one case. (12632790)
2002
32
Subclavian and pulmonary steal phenomenon in isolated left subclavian artery with left lung agenesis. (12227719)
2002
33
Lung agenesis in a neonate presenting with contralateral mediastinal shift. (11733859)
2001
34
Combined spinal epidural anesthesia for cesarean section in a patient with left lung agenesis. (15321627)
2001
35
Right lung agenesis with left pulmonary artery sling. (10686046)
2000
36
Pregnancy with unilateral lung agenesis. (11304979)
2000
37
The association of complete laryngotracheoesophageal cleft with left lung agenesis: pathophysiological clues provided by an experiment of nature. (9802811)
1998
38
Prenatal diagnosis of right lung agenesis using color Doppler and magnetic resonance imaging. (9475368)
1997
39
Right lung agenesis with total anomalous pulmonary venous drainage. (7875708)
1994
40
Lung agenesis, esophageal atresia and tracheoesophageal fistula. (3385599)
1988
41
Right lung agenesis. A case report. (7152188)
1982
42
Tracheal compression by a normal aorta associated with right lung agenesis. (424535)
1979
43
Pseudovascular ring resulting from right lung agenesis, normal aortic arch, and patent ductus arteriosus. Case report. (5953538)
1966

Variations for Lung Agenesis

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Expression for genes affiliated with Lung Agenesis

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Search GEO for disease gene expression data for Lung Agenesis.

Pathways for genes affiliated with Lung Agenesis

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GO Terms for genes affiliated with Lung Agenesis

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Sources for Lung Agenesis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet