MCID: LNG054
MIFTS: 34

Lung Agenesis

Categories: Rare diseases, Respiratory diseases, Fetal diseases

Aliases & Classifications for Lung Agenesis

MalaCards integrated aliases for Lung Agenesis:

Name: Lung Agenesis 53 49
Pulmonary Agenesis 49 55
Unilateral Lobar Pulmonary Agenesis 49
Pulmonary Hypoplasia, Primary 53
Primary Pulmonary Hypoplasia 55
Congenital Absence of Lung 69
Congenital Lung Agenesis 49
Unilateral Lung Agenesis 49

Characteristics:

OMIM:

53
Inheritance:
? autosomal recessive


HPO:

31
lung agenesis:
Mortality/Aging neonatal death


Classifications:



External Ids:

OMIM 53 265430
Orphanet 55 ORPHA984 ORPHA2257
UMLS via Orphanet 70 C0265780
ICD10 via Orphanet 33 Q33.3 Q33.6
MedGen 39 C0265780
ICD10 32 Q33.3
SNOMED-CT via HPO 65 80825009 276506001
UMLS 69 C0265780

Summaries for Lung Agenesis

OMIM : 53 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 drug Mitogens has been mentioned in the context of this disorder. Affiliated tissues include lung, bone and testes.

Related Diseases for Lung Agenesis

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:

53
Pulmonary:
bilateral pulmonary hypoplasia

Misc:
neonatal lethal


Clinical features from OMIM:

265430

Human phenotypes related to Lung Agenesis:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary hypoplasia 55 31 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitogens Phase 1, Phase 2

Interventional clinical trials:


# 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 Safety of Stem Cells Intrabronchial Instillation for Silicosis Completed NCT01239862 Phase 1
3 Lung Inflammation and Lung Metastases From Breast Cancer Completed NCT01182519
4 Safety Study of Bone-marrow Derived Mesenchymal Stromal Cells Associated With Endobronchial Valves in Emphysema Completed NCT01872624
5 Use of Endobronchial Ultrasound Scope (EBUS) Transducer to Identify Pneumothorax-A Feasibility Study Recruiting NCT02907866
6 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:

38
Lung, Bone, Testes, Breast, Bone Marrow, Heart

Publications for Lung Agenesis

Articles related to Lung Agenesis:

(show top 50) (show all 84)
# Title Authors Year
1
Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28402072 )
2017
2
Corrigendum for: Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28861949 )
2017
3
Unilateral lung agenesis, aplasia or hypoplasia: Which one is it? ( 28742269 )
2017
4
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
5
Adult presentation of symptomatic left lung agenesis. ( 28228871 )
2017
6
Right-side pulmonary agenesis with atrial septal defect in adult. ( 27081489 )
2016
7
Right Lung Agenesis with Tracheal Stenosis due to Complete Tracheal Rings and Postpneumonectomy Like Syndrome Treated with Tissue Expander Placement. ( 27882259 )
2016
8
Adult patient with pulmonary agenesis: focusing on one-lung ventilation during general anesthesia. ( 26904240 )
2016
9
Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children. ( 26891022 )
2016
10
Dyspnoea in a patient with unilateral lung agenesis. ( 27281815 )
2016
11
Left lung agenesis discovered by a spontaneous pneumothorax in a 20-year-old girl. ( 27051112 )
2016
12
Management of a Patient With Tetralogy of Fallot, Congenital Diaphragmatic Hernia, and Complete Left Lung Agenesis. ( 27258177 )
2016
13
Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn. ( 27551579 )
2016
14
Left Ventricular Assist Device Implantation in a Patient With Severe Cardiac Failure and Unilateral Pulmonary Agenesis. ( 26354084 )
2016
15
Left pulmonary agenesis showing extraordinary chest x-ray findings. ( 25932765 )
2015
16
Successful radiofrequency catheter ablation of atrioventricular nodal reentrant tachycardia in a patient with dextrocardia due to unilateral pulmonary agenesis: a case report. ( 25674017 )
2015
17
Pulmonary agenesis and respiratory failure in childhood. ( 26484321 )
2015
18
Pulmonary Agenesis. ( 27164736 )
2015
19
Mitral valve replacement in an adult with left pulmonary agenesis. ( 26115155 )
2015
20
Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis. ( 25659560 )
2015
21
Pulmonary Agenesis and Associated Pulmonary Hypertension: A Case Report and Review on Variability, Therapy, and Outcome. ( 26171313 )
2015
22
Unilateral right pulmonary agenesis in adulthood. ( 25121044 )
2014
23
Neonatal repair of total anomalous pulmonary venous connection and lung agenesis. ( 24585319 )
2014
24
Unilateral pulmonary agenesis. ( 25029657 )
2014
25
An adult case of isolated unilateral pulmonary agenesis under general anesthesia. ( 24534244 )
2014
26
Transcatheter Amplatzer Duct Occluder II closure of perimembranous ventricular septal defect with right lung agenesis. ( 25135329 )
2014
27
Isolated unilateral pulmonary agenesis and other fetal thoracic anomalies. ( 25101843 )
2014
28
Pediatric cardiothoracic surgery in patients with unilateral pulmonary agenesis or aplasia. ( 24507772 )
2014
29
Unilateral pulmonary agenesis: a report of four cases, two diagnosed antenatally and literature review. ( 24178867 )
2014
30
Persistent Cloaca associated with Unilateral Lung Agenesis- A Rare Presentation. ( 26023493 )
2014
31
Unilateral pulmonary agenesis and gastric duplication cyst: a rare association. ( 23844300 )
2013
32
Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome. ( 24341150 )
2013
33
Usefulness of ultrasonography and MRI for diagnosis of fetal pulmonary agenesis: case report and review of the literature. ( 27277106 )
2013
34
Prenatal diagnosis of fetal unilateral lung agenesis complicated with cardiac malposition. ( 23530545 )
2013
35
Complete right lung agenesis presenting with bronchial asthma and allergic rhinitis. ( 23001088 )
2012
36
First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome. ( 22309948 )
2012
37
Complete right lung agenesis with dextrocardia: an unusual cause of respiratory distress. ( 23393637 )
2012
38
Right lung agenesis and dextrocardia in a paucisymptomatic 11-year-old child. ( 22088223 )
2012
39
Left lung agenesis associated with common origin of both coronary arteries. ( 23284132 )
2012
40
Oesophageal atresia and tracheoesophageal fistula with right pulmonary agenesis and duplication of the azygos vein. ( 22123734 )
2012
41
Balloon dilatation of tracheal restenosis in a patient with unilateral lung agenesis - an anesthetic challenge. ( 21793985 )
2011
42
Treatment of spontaneous pneumothorax in a patient with right pulmonary agenesis. ( 21801896 )
2011
43
Repair of a ventricular septal defect in a patient with left lung agenesis. ( 21810119 )
2011
44
Aphallia, lung agenesis and multiple defects of blastogenesis. ( 21204662 )
2011
45
Cardiac defect with diaphragmatic hernia and left lung agenesis--heart disease and other anomalies. ( 20922633 )
2010
46
Unilateral left lung agenesis with crossed-ectopic right lower lobe combined tricuspid atresia diagnosed by ECG gated computed tomography. ( 19660389 )
2010
47
Postpneumonectomy-like syndrome in an infant with right lung agenesis and left main bronchus hypoplasia. ( 19379854 )
2009
48
Tracheal reconstruction in children with unilateral lung agenesis or severe hypoplasia. ( 19632424 )
2009
49
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
50
Unilateral lung agenesis: coincidence or association with maternal valproate therapy? ( 19825029 )
2009

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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