MCID: LNG054
MIFTS: 32

Lung Agenesis malady

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

Aliases & Classifications for Lung Agenesis

Aliases & Descriptions 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:

HPO:

32
lung agenesis:
Mortality/Aging neonatal death


Classifications:



External Ids:

OMIM 54 265430
Orphanet 56 ORPHA984 ORPHA2257
ICD10 via Orphanet 34 Q33.3 Q33.6
UMLS via Orphanet 70 C0265780
ICD10 33 Q33.3

Summaries for Lung Agenesis

OMIM : 54 Primary bilateral pulmonary hypoplasia is defined as quantitative and/or qualitative underdevelopment of bronchial and... (265430) more...

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 Lenograstim and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include lung and heart.

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 10.8
4 tracheal stenosis 9.8
5 esophageal atresia 9.8
6 esophagitis 9.8
7 ventricular septal defect 9.7
8 dextrocardia 9.7
9 patent ductus arteriosus 9.5
10 pneumothorax 9.5
11 congenital diaphragmatic hernia 9.5
12 asthma 9.5
13 rhinitis 9.5
14 allergic rhinitis 9.5
15 mediastinitis 9.5
16 tetralogy of fallot 9.5
17 duodenitis 9.5
18 holt-oram syndrome 9.5
19 tricuspid atresia 9.5
20 tracheoesophageal fistula 9.5
21 duodenal atresia 9.5
22 heart disease 9.5

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



Diseases related to Lung Agenesis

Symptoms & Phenotypes for Lung Agenesis

Symptoms by clinical synopsis from OMIM:

265430

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 Very frequent (99-80%) HP:0002089

Drugs & Therapeutics for Lung Agenesis

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

(show top 50) (show all 68)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved Phase 2 135968-09-1
2
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
3
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
4
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
5
rituximab Approved Phase 2 174722-31-7 10201696
6
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
7
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
8
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
9
Pentostatin Approved, Investigational Phase 1, Phase 2 53910-25-1 40926 439693
10
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
11
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
12
Daclizumab Approved, Investigational Phase 2 152923-56-3
13 Antirheumatic Agents Phase 2,Phase 1
14 Immunosuppressive Agents Phase 2,Phase 1
15 Antifungal Agents Phase 2,Phase 1
16 Anti-Infective Agents Phase 2,Phase 1
17 Antilymphocyte Serum Phase 2
18 Calcineurin Inhibitors Phase 2
19 Dermatologic Agents Phase 2
20 Alkylating Agents Phase 1, Phase 2
21 Antineoplastic Agents, Alkylating Phase 1, Phase 2
22 Mitogens Phase 1, Phase 2
23 Antibodies Phase 2
24 Antibodies, Monoclonal Phase 2
25 Immunoglobulins Phase 2
26 Adjuvants, Immunologic Phase 2
27 Anti-Bacterial Agents Phase 1, Phase 2
28 Antibiotics, Antitubercular Phase 1, Phase 2
29 Immunoglobulin G Phase 2
30
Methylprednisolone Approved, Vet_approved 83-43-2 6741
31
Prednisolone Approved, Vet_approved 50-24-8 5755
32
Prednisone Approved, Vet_approved 53-03-2 5865
33
Menthol Approved 2216-51-5 16666
34
Busulfan Approved, Investigational 55-98-1 2478
35
Melphalan Approved 148-82-3 4053 460612
36
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
37
Mycophenolic acid Approved 24280-93-1 446541
38
Vidarabine Approved 24356-66-9 32326 21704
39 Antiemetics
40 Anti-Inflammatory Agents
41 Antineoplastic Agents, Hormonal
42 Autonomic Agents
43 Gastrointestinal Agents
44 glucocorticoids
45 Hormone Antagonists
46 Hormones
47 Hormones, Hormone Substitutes, and Hormone Antagonists
48 Methylprednisolone acetate
49 Methylprednisolone Hemisuccinate
50 Neuroprotective Agents

Interventional clinical trials:

(show all 23)
id Name Status NCT ID Phase
1 Transfusion Strategy in Hematological Intensive Care Unit Recruiting NCT02461264 Phase 3
2 Safety Study of Autologous Bone Marrow Stromal Cells With Modification by Hepatocyte Growth Factor to Treat Silicosis Completed NCT01977131 Phase 1, Phase 2
3 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2
4 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2
5 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2
6 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
7 Allogeneic Hematopoietic Stem Cell Transplantation for Severe Aplastic Anemia and Other Bone Marrow Failure Syndromes Using G-CSF Mobilized CD34+ Selected Hematopoietic Precursor Cells Co-Infused With a Reduced Dose of Non-Mobilized Donor T-cells Recruiting NCT01174108 Phase 2
8 Specialized Blood Cell Transplants for Cancers of the Blood and Bone Marrow Recruiting NCT00003838 Phase 2
9 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2
10 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2
11 Safety of Stem Cells Intrabronchial Instillation for Silicosis Completed NCT01239862 Phase 1
12 Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Unknown status NCT00006055
13 Lung Inflammation and Lung Metastases From Breast Cancer Completed NCT01182519
14 Safety Study of Bone-marrow Derived Mesenchymal Stromal Cells Associated With Endobronchial Valves in Emphysema Completed NCT01872624
15 Cytokine Gene Polymorphisms in Bone Marrow Failure Completed NCT00085670
16 Use of Endobronchial Ultrasound Scope (EBUS) Transducer to Identify Pneumothorax-A Feasibility Study Recruiting NCT02907866
17 Renal Agenesis Fetal Therapy Recruiting NCT03101891
18 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
19 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
20 CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367
21 Validation of a Multi-gene Test for Lung Cancer Risk Active, not recruiting NCT01130285
22 Low-Dose Total Body Irradiation and Donor Peripheral Blood Stem Cell Transplant Followed by Donor Lymphocyte Infusion in Treating Patients With Non-Hodgkin Lymphoma, Chronic Lymphocytic Leukemia, or Multiple Myeloma Active, not recruiting NCT00003196
23 Fludarabine Phosphate, Low-Dose Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies or Kidney Cancer Active, not recruiting NCT00005799

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, Heart

Publications for Lung Agenesis

Articles related to Lung Agenesis:

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