MCID: LNG054
MIFTS: 32

Lung Agenesis

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lung Agenesis

MalaCards integrated aliases for Lung Agenesis:

Name: Lung Agenesis 57 53
Pulmonary Agenesis 53 59
Unilateral Lobar Pulmonary Agenesis 53
Pulmonary Hypoplasia, Primary 57
Primary Pulmonary Hypoplasia 59
Congenital Absence of Lung 73
Congenital Lung Agenesis 53
Unilateral Lung Agenesis 53

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive


HPO:

32
lung agenesis:
Mortality/Aging neonatal death


Classifications:



External Ids:

OMIM 57 265430
Orphanet 59 ORPHA984 ORPHA2257
ICD10 via Orphanet 34 Q33.3 Q33.6
UMLS via Orphanet 74 C0265780
MedGen 42 C0265780
ICD10 33 Q33.3
SNOMED-CT via HPO 69 80825009 276506001
UMLS 73 C0265780

Summaries for Lung Agenesis

OMIM : 57 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. 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, heart and kidney, and related phenotype is pulmonary hypoplasia.

Related Diseases for Lung Agenesis

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 lung agenesis, congenital heart defects, and thumb anomalies syndrome 12.5
2 microphthalmia, syndromic 9 11.9
3 manouvrier syndrome 11.6
4 tetraamelia syndrome 2 11.0
5 tracheoesophageal fistula with or without esophageal atresia 10.0
6 esophageal atresia 10.0
7 tracheal stenosis 10.0
8 microphthalmia 9.9
9 ventricular septal defect 9.9
10 dextrocardia 9.9
11 cayler cardiofacial syndrome 9.9
12 tracheobronchial stenosis, congenital 9.9
13 pulmonary hypertension 9.9
14 congenital tracheal stenosis 9.9
15 microtia 9.9
16 alkuraya-kucinskas syndrome 9.8
17 distal arthrogryposis 9.8
18 polyhydramnios 9.8
19 hemifacial microsomia with radial defects 9.7
20 diaphragmatic hernia, congenital 9.7
21 hernia, hiatus 9.7
22 holt-oram syndrome 9.7
23 hemifacial microsomia 9.7
24 pneumothorax, primary spontaneous 9.7
25 tetralogy of fallot 9.7
26 duodenal atresia 9.7
27 asthma 9.7
28 tricuspid atresia 9.7
29 atrioventricular septal defect 9.7
30 allergic rhinitis 9.7
31 patent ductus arteriosus 1 9.7
32 asthma-related traits 4 9.7
33 heart disease 9.7
34 pneumothorax 9.7
35 atrial heart septal defect 9.7
36 rhinitis 9.7
37 tracheoesophageal fistula 9.7
38 gastroesophageal reflux 9.7
39 pectus excavatum 9.7
40 down syndrome 9.7
41 hydrolethalus syndrome 1 9.7
42 neuroblastoma 9.7
43 mayer-rokitansky-kuster-hauser syndrome 9.7
44 aortic arch interruption 9.7
45 acrofacial dysostosis 9.7
46 respiratory failure 9.7
47 goiter 9.7
48 biliary atresia 9.7
49 dysostosis 9.7
50 transient cerebral ischemia 9.7

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:

57
Misc:
neonatal lethal

Pulmonary:
bilateral pulmonary hypoplasia


Clinical features from OMIM:

265430

Human phenotypes related to Lung Agenesis:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary hypoplasia 59 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):


# 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 Initial Patient Evaluation in the Emergency Department With Point-of-Care Ultrasonography Unknown status NCT02099045
4 Lung Inflammation and Lung Metastases From Breast Cancer Completed NCT01182519
5 Safety Study of Bone-marrow Derived Mesenchymal Stromal Cells Associated With Endobronchial Valves in Emphysema Completed NCT01872624 Not Applicable
6 Use of Endobronchial Ultrasound Scope (EBUS) Transducer to Identify Pneumothorax-A Feasibility Study Recruiting NCT02907866
7 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:

41
Lung, Heart, Kidney, Liver, Adrenal Gland

Publications for Lung Agenesis

Articles related to Lung Agenesis:

(show top 50) (show all 196)
# Title Authors Year
1
Unilateral lung agenesis, hiatal hernia and atrioventricular septal defect: a rare combination of congenital anomalies. ( 29754141 )
2018
2
Endobronchial stenting on VV-ECMO in a 6-month-old girl with right lung agenesis and severe stenosis of the left main bronchus. ( 29658403 )
2018
3
Aortopexy and thymectomy through lower partial sternotomy for the treatment of airway compression in a patient with right lung agenesis. ( 30360766 )
2018
4
CT features of lung agenesis - a case series (6 cases). ( 30376819 )
2018
5
Adult presentation of asymptomatic right lung agenesis: a rare anatomical variation. ( 30402711 )
2018
6
Pulmonary agenesis: A rare entity. ( 29697094 )
2018
7
Aortic valve replacement and tricuspid valve annuloplasty via a left thoracotomy in an adult with left pulmonary agenesis. ( 29876725 )
2018
8
Corrigendum for: Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28861949 )
2017
9
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
10
Unilateral lung agenesis, aplasia or hypoplasia: Which one is it? ( 28742269 )
2017
11
Adult presentation of symptomatic left lung agenesis. ( 28228871 )
2017
12
Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28402072 )
2017
13
Anesthetic Care of a Child With Congenital Pulmonary Agenesis and Indwelling Intrathoracic Tissue Expander Undergoing Posterior Spinal Fusion. ( 28774645 )
2017
14
Right-side pulmonary agenesis with atrial septal defect in adult. ( 27081489 )
2016
15
Management of a Patient With Tetralogy of Fallot, Congenital Diaphragmatic Hernia, and Complete Left Lung Agenesis. ( 27258177 )
2016
16
Right Lung Agenesis with Tracheal Stenosis due to Complete Tracheal Rings and Postpneumonectomy Like Syndrome Treated with Tissue Expander Placement. ( 27882259 )
2016
17
Adult patient with pulmonary agenesis: focusing on one-lung ventilation during general anesthesia. ( 26904240 )
2016
18
Left Ventricular Assist Device Implantation in a Patient With Severe Cardiac Failure and Unilateral Pulmonary Agenesis. ( 26354084 )
2016
19
Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children. ( 26891022 )
2016
20
Dyspnoea in a patient with unilateral lung agenesis. ( 27281815 )
2016
21
Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn. ( 27551579 )
2016
22
Left lung agenesis discovered by a spontaneous pneumothorax in a 20-year-old girl. ( 27051112 )
2016
23
Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult. ( 27790501 )
2016
24
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with unilateral pulmonary agenesis-a rarity indeed: radiologic review. ( 30363603 )
2016
25
Pulmonary agenesis and respiratory failure in childhood. ( 26484321 )
2015
26
Pulmonary Agenesis and Associated Pulmonary Hypertension: A Case Report and Review on Variability, Therapy, and Outcome. ( 26171313 )
2015
27
Pulmonary Agenesis. ( 27164736 )
2015
28
Successful radiofrequency catheter ablation of atrioventricular nodal reentrant tachycardia in a patient with dextrocardia due to unilateral pulmonary agenesis: a case report. ( 25674017 )
2015
29
Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis. ( 25659560 )
2015
30
Mitral valve replacement in an adult with left pulmonary agenesis. ( 26115155 )
2015
31
Left pulmonary agenesis showing extraordinary chest x-ray findings. ( 25932765 )
2015
32
Isolated unilateral pulmonary agenesis and other fetal thoracic anomalies. ( 25101843 )
2014
33
Pediatric cardiothoracic surgery in patients with unilateral pulmonary agenesis or aplasia. ( 24507772 )
2014
34
Persistent Cloaca associated with Unilateral Lung Agenesis- A Rare Presentation. ( 26023493 )
2014
35
Unilateral pulmonary agenesis. ( 25029657 )
2014
36
Unilateral right pulmonary agenesis in adulthood. ( 25121044 )
2014
37
An adult case of isolated unilateral pulmonary agenesis under general anesthesia. ( 24534244 )
2014
38
Unilateral pulmonary agenesis: a report of four cases, two diagnosed antenatally and literature review. ( 24178867 )
2014
39
Neonatal repair of total anomalous pulmonary venous connection and lung agenesis. ( 24585319 )
2014
40
Transcatheter Amplatzer Duct Occluder II closure of perimembranous ventricular septal defect with right lung agenesis. ( 25135329 )
2014
41
Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome. ( 24341150 )
2013
42
Prenatal diagnosis of fetal unilateral lung agenesis complicated with cardiac malposition. ( 23530545 )
2013
43
Usefulness of ultrasonography and MRI for diagnosis of fetal pulmonary agenesis: case report and review of the literature. ( 27277106 )
2013
44
Unilateral pulmonary agenesis and gastric duplication cyst: a rare association. ( 23844300 )
2013
45
Esophageal atresia and tracheoesophageal fistula with unilateral pulmonary agenesis - hypoplasia. ( 26023441 )
2013
46
Pulmonary agenesis: A case report with review of literature. ( 25003063 )
2013
47
Complete right lung agenesis presenting with bronchial asthma and allergic rhinitis. ( 23001088 )
2012
48
Right lung agenesis and dextrocardia in a paucisymptomatic 11-year-old child. ( 22088223 )
2012
49
First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome. ( 22309948 )
2012
50
Oesophageal atresia and tracheoesophageal fistula with right pulmonary agenesis and duplication of the azygos vein. ( 22123734 )
2012

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
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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