MCID: LNG054
MIFTS: 32

Lung Agenesis

Categories: Rare diseases, Respiratory diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Lung Agenesis

MalaCards integrated aliases for Lung Agenesis:

Name: Lung Agenesis 54 50
Pulmonary Agenesis 50 56
Familial Primary Pulmonary Hypoplasia 56
Unilateral Lobar Pulmonary Agenesis 50
Congenital Absence of Lung 69
Congenital Lung Agenesis 50
Unilateral Lung Agenesis 50

Characteristics:

OMIM:

54
Inheritance:
? autosomal recessive


HPO:

32
lung agenesis:
Mortality/Aging neonatal death


Classifications:



External Ids:

OMIM 54 265430
Orphanet 56 ORPHA984 ORPHA2257
UMLS via Orphanet 70 C0265780
ICD10 via Orphanet 34 Q33.3 Q33.6
ICD10 33 Q33.3
SNOMED-CT via HPO 65 80825009 276506001

Summaries for Lung Agenesis

OMIM : 54
Primary bilateral pulmonary hypoplasia is defined as quantitative and/or qualitative underdevelopment of bronchial and pulmonary tissue unrelated to an underlying disorder (Langer and Kaufmann, 1986). (265430)

MalaCards based summary : Lung Agenesis, also known as pulmonary agenesis, is related to lung agenesis, congenital heart defects, and thumb anomalies syndrome and microphthalmia, syndromic 9, and has symptoms including pulmonary hypoplasia An important gene associated with Lung Agenesis is TBX5 (T-Box 5). The drugs rituximab and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and bone marrow.

Related Diseases for Lung Agenesis

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

(show all 22)
id Related Disease Score Top Affiliating Genes
1 lung agenesis, congenital heart defects, and thumb anomalies syndrome 12.1
2 microphthalmia, syndromic 9 11.5
3 manouvrier syndrome 11.4
4 esophageal atresia 9.8
5 esophagitis 9.8
6 tracheal stenosis 9.8
7 ventricular septal defect 9.7
8 dextrocardia 9.7
9 duodenal atresia 9.5
10 heart disease 9.5
11 patent ductus arteriosus 9.5
12 pneumothorax 9.5
13 congenital diaphragmatic hernia 9.5
14 asthma 9.5
15 rhinitis 9.5
16 allergic rhinitis 9.5
17 mediastinitis 9.5
18 tetralogy of fallot 9.5
19 duodenitis 9.5
20 holt-oram syndrome 9.5
21 tricuspid atresia 9.5
22 tracheoesophageal fistula 9.5

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



Diseases related to Lung Agenesis

Symptoms & Phenotypes for Lung Agenesis

Symptoms via clinical synopsis from OMIM:

54

Pulmonary:
bilateral pulmonary hypoplasia

Misc:
neonatal lethal


Clinical features from OMIM:

265430

Human phenotypes related to Lung Agenesis:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002089

Drugs & Therapeutics for Lung Agenesis

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

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 2 174722-31-7 10201696
2
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
3
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
4
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
5
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
6
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
7
Pentostatin Approved, Investigational Phase 1, Phase 2 53910-25-1 40926 439693
8
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
9
Daclizumab Approved, Investigational Phase 2 152923-56-3
10 Mitogens Phase 1, Phase 2
11 Antibodies Phase 2
12 Antibodies, Monoclonal Phase 2
13 Antirheumatic Agents Phase 2,Phase 1
14 Immunoglobulins Phase 2
15 Immunosuppressive Agents Phase 2,Phase 1
16 Alkylating Agents Phase 1, Phase 2
17 Anti-Bacterial Agents Phase 1, Phase 2
18 Antibiotics, Antitubercular Phase 1, Phase 2
19 Antifungal Agents Phase 1, Phase 2
20 Anti-Infective Agents Phase 1, Phase 2
21
Menthol Approved 2216-51-5 16666
22
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
23 Interferon-gamma
24 interferons
25 Interleukin 1 Receptor Antagonist Protein
26 Vitamins
27 Anesthetics
28 Anesthetics, Local
29 Pharmaceutical Solutions

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Safety Study of Autologous Bone Marrow Stromal Cells With Modification by Hepatocyte Growth Factor to Treat Silicosis Completed NCT01977131 Phase 1, Phase 2
2 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
3 Nonmyeloablative Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Sickle Cell Disease and Beta-thalassemia in People With Higher Risk of Transplant Failure Recruiting NCT02105766 Phase 1, Phase 2 Alemtuzumab;Sirolimus;Cyclophosphamide;Pentostatin;Radiotherapy
4 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
5 Safety of Stem Cells Intrabronchial Instillation for Silicosis Completed NCT01239862 Phase 1
6 Lung Inflammation and Lung Metastases From Breast Cancer Completed NCT01182519
7 Safety Study of Bone-marrow Derived Mesenchymal Stromal Cells Associated With Endobronchial Valves in Emphysema Completed NCT01872624
8 Cytokine Gene Polymorphisms in Bone Marrow Failure Completed NCT00085670
9 Use of Endobronchial Ultrasound Scope (EBUS) Transducer to Identify Pneumothorax-A Feasibility Study Recruiting NCT02907866
10 Renal Agenesis Fetal Therapy Recruiting NCT03101891 Normal Saline, 0.9% injectable solution
11 Validation of a Multi-gene Test for Lung Cancer Risk Active, not recruiting NCT01130285

Search NIH Clinical Center for Lung Agenesis

Genetic Tests for Lung Agenesis

Anatomical Context for Lung Agenesis

MalaCards organs/tissues related to Lung Agenesis:

39
Lung, Bone, Bone Marrow, Testes, Breast, Heart

Publications for Lung Agenesis

Articles related to Lung Agenesis:

(show all 50)
id Title Authors Year
1
Adult presentation of symptomatic left lung agenesis. ( 28228871 )
2017
2
Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28402072 )
2017
3
Unilateral lung agenesis, aplasia or hypoplasia: Which one is it? ( 28742269 )
2017
4
Corrigendum for: Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28861949 )
2017
5
Management of a Patient With Tetralogy of Fallot, Congenital Diaphragmatic Hernia, and Complete Left Lung Agenesis. ( 27258177 )
2016
6
Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children. ( 26891022 )
2016
7
Left lung agenesis discovered by a spontaneous pneumothorax in a 20-year-old girl. ( 27051112 )
2016
8
Dyspnoea in a patient with unilateral lung agenesis. ( 27281815 )
2016
9
Right Lung Agenesis with Tracheal Stenosis due to Complete Tracheal Rings and Postpneumonectomy Like Syndrome Treated with Tissue Expander Placement. ( 27882259 )
2016
10
Neonatal repair of total anomalous pulmonary venous connection and lung agenesis. ( 24585319 )
2014
11
Transcatheter Amplatzer Duct Occluder II closure of perimembranous ventricular septal defect with right lung agenesis. ( 25135329 )
2014
12
Persistent Cloaca associated with Unilateral Lung Agenesis- A Rare Presentation. ( 26023493 )
2014
13
Prenatal diagnosis of fetal unilateral lung agenesis complicated with cardiac malposition. ( 23530545 )
2013
14
Complete right lung agenesis with dextrocardia: an unusual cause of respiratory distress. ( 23393637 )
2012
15
Left lung agenesis associated with common origin of both coronary arteries. ( 23284132 )
2012
16
Complete right lung agenesis presenting with bronchial asthma and allergic rhinitis. ( 23001088 )
2012
17
Right lung agenesis and dextrocardia in a paucisymptomatic 11-year-old child. ( 22088223 )
2012
18
First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome. ( 22309948 )
2012
19
Aphallia, lung agenesis and multiple defects of blastogenesis. ( 21204662 )
2011
20
Balloon dilatation of tracheal restenosis in a patient with unilateral lung agenesis - an anesthetic challenge. ( 21793985 )
2011
21
Repair of a ventricular septal defect in a patient with left lung agenesis. ( 21810119 )
2011
22
Unilateral left lung agenesis with crossed-ectopic right lower lobe combined tricuspid atresia diagnosed by ECG gated computed tomography. ( 19660389 )
2010
23
Cardiac defect with diaphragmatic hernia and left lung agenesis--heart disease and other anomalies. ( 20922633 )
2010
24
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
25
Tracheal reconstruction in children with unilateral lung agenesis or severe hypoplasia. ( 19632424 )
2009
26
Unilateral lung agenesis: coincidence or association with maternal valproate therapy? ( 19825029 )
2009
27
Postpneumonectomy-like syndrome in an infant with right lung agenesis and left main bronchus hypoplasia. ( 19379854 )
2009
28
Adult presentation of right lung agenesis and left pulmonary artery sling. ( 17963072 )
2008
29
Right lung agenesis. ( 19858680 )
2008
30
Unilateral lung agenesis--detrimental roles of surrounding vessels. ( 17238192 )
2007
31
Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene. ( 17366586 )
2007
32
Left atrial approach to close the atrial septal defect type II in case of right lung agenesis with extreme dextroversion. ( 17669789 )
2007
33
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
34
Complete myocardial revascularization and Dor technique in a case of left lung agenesis. ( 16434280 )
2006
35
Esophageal atresia, duodenal atresia, and unilateral lung agenesis: a case report. ( 15300548 )
2004
36
Pregnancy in a woman with unilateral lung agenesis. ( 15280115 )
2004
37
Mitral valve repair in a 55-year-old man with left lung agenesis. ( 15111192 )
2004
38
Subclavian and pulmonary steal phenomenon in isolated left subclavian artery with left lung agenesis. ( 12227719 )
2002
39
Esophageal atresia associated with tracheal stenosis and right lung agenesis: report of one case. ( 12632790 )
2002
40
Combined spinal epidural anesthesia for cesarean section in a patient with left lung agenesis. ( 15321627 )
2001
41
Lung agenesis in a neonate presenting with contralateral mediastinal shift. ( 11733859 )
2001
42
Pregnancy with unilateral lung agenesis. ( 11304979 )
2000
43
Right lung agenesis with left pulmonary artery sling. ( 10686046 )
2000
44
The association of complete laryngotracheoesophageal cleft with left lung agenesis: pathophysiological clues provided by an experiment of nature. ( 9802811 )
1998
45
Prenatal diagnosis of right lung agenesis using color Doppler and magnetic resonance imaging. ( 9475368 )
1997
46
Right lung agenesis with total anomalous pulmonary venous drainage. ( 7875708 )
1994
47
Lung agenesis, esophageal atresia and tracheoesophageal fistula. ( 3385599 )
1988
48
Right lung agenesis. A case report. ( 7152188 )
1982
49
Tracheal compression by a normal aorta associated with right lung agenesis. ( 424535 )
1979
50
Pseudovascular ring resulting from right lung agenesis, normal aortic arch, and patent ductus arteriosus. Case report. ( 5953538 )
1966

Variations for Lung Agenesis

Expression for Lung Agenesis

Search GEO for disease gene expression data for Lung Agenesis.

Pathways for Lung Agenesis

GO Terms for Lung Agenesis

Sources for Lung Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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