MCID: LNG054
MIFTS: 35

Lung Agenesis

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lung Agenesis

MalaCards integrated aliases for Lung Agenesis:

Name: Lung Agenesis 58 54
Pulmonary Agenesis 54 60
Unilateral Lobar Pulmonary Agenesis 54
Pulmonary Hypoplasia, Primary 58
Primary Pulmonary Hypoplasia 60
Congenital Absence of Lung 74
Congenital Lung Agenesis 54
Unilateral Lung Agenesis 54

Characteristics:

OMIM:

58
Inheritance:
? autosomal recessive


HPO:

33
lung agenesis:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 265430
ICD10 34 Q33.3
ICD10 via Orphanet 35 Q33.3 Q33.6
UMLS via Orphanet 75 C0265780
Orphanet 60 ORPHA2257 ORPHA984
MedGen 43 C0265780
SNOMED-CT via HPO 70 258211005 276506001 80825009
UMLS 74 C0265780

Summaries for Lung Agenesis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 984Disease definitionA rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.Visit the Orphanet disease page for more resources.

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 bone, and related phenotype is pulmonary hypoplasia.

OMIM : 58 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)

Related Diseases for Lung Agenesis

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

(show all 50)
# 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 11.7
4 tetraamelia syndrome 2 11.1
5 tracheoesophageal fistula with or without esophageal atresia 10.0
6 esophageal atresia 10.0
7 tracheal stenosis 10.0
8 microphthalmia 10.0
9 ventricular septal defect 9.9
10 dextrocardia 9.9
11 tracheobronchial stenosis, congenital 9.9
12 pulmonary hypertension 9.9
13 congenital tracheal stenosis 9.9
14 microtia 9.9
15 distal arthrogryposis 9.8
16 polyhydramnios 9.8
17 hemifacial microsomia with radial defects 9.7
18 diaphragmatic hernia, congenital 9.7
19 hernia, hiatus 9.7
20 holt-oram syndrome 9.7
21 hemifacial microsomia 9.7
22 tetralogy of fallot 9.7
23 duodenal atresia 9.7
24 asthma 9.7
25 tricuspid atresia 9.7
26 atrioventricular septal defect 9.7
27 allergic rhinitis 9.7
28 patent ductus arteriosus 1 9.7
29 asthma-related traits 4 9.7
30 heart disease 9.7
31 pneumothorax 9.7
32 atrial heart septal defect 9.7
33 rhinitis 9.7
34 craniofacial microsomia 9.7
35 tracheoesophageal fistula 9.7
36 gastroesophageal reflux 9.7
37 pectus excavatum 9.7
38 down syndrome 9.7
39 hydrolethalus syndrome 1 9.7
40 mayer-rokitansky-kuster-hauser syndrome 9.7
41 pelizaeus-merzbacher disease 9.7
42 aortic arch interruption 9.7
43 acrofacial dysostosis 9.7
44 respiratory failure 9.7
45 goiter 9.7
46 biliary atresia 9.7
47 dysostosis 9.7
48 transient cerebral ischemia 9.7
49 chickenpox 9.7
50 bronchiectasis 9.7

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



Diseases related to Lung Agenesis

Symptoms & Phenotypes for Lung Agenesis

Human phenotypes related to Lung Agenesis:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002089

Symptoms via clinical synopsis from OMIM:

58
Misc:
neonatal lethal

Pulmonary:
bilateral pulmonary hypoplasia

Clinical features from OMIM:

265430

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
8 Auscultation, Lus, Fob In Olv (ALFIO) Not yet recruiting NCT03912311

Search NIH Clinical Center for Lung Agenesis

Genetic Tests for Lung Agenesis

Anatomical Context for Lung Agenesis

MalaCards organs/tissues related to Lung Agenesis:

42
Lung, Heart, Bone, Testes, Breast, Bone Marrow, Kidney

Publications for Lung Agenesis

Articles related to Lung Agenesis:

(show top 50) (show all 196)
# Title Authors Year
1
Aortopexy and thymectomy through lower partial sternotomy for the treatment of airway compression in a patient with right lung agenesis. ( 30360766 )
2019
2
Adult presentation of asymptomatic right lung agenesis: a rare anatomical variation. ( 30402711 )
2019
3
Unilateral lung agenesis, hiatal hernia and atrioventricular septal defect: a rare combination of congenital anomalies. ( 29754141 )
2018
4
Unilateral lung agenesis, aplasia or hypoplasia: Which one is it? ( 28742269 )
2018
5
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
6
CT features of lung agenesis - a case series (6 cases). ( 30376819 )
2018
7
Pulmonary agenesis: A rare entity. ( 29697094 )
2018
8
Aortic valve replacement and tricuspid valve annuloplasty via a left thoracotomy in an adult with left pulmonary agenesis. ( 29876725 )
2018
9
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
10
Adult presentation of symptomatic left lung agenesis. ( 28228871 )
2017
11
Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28402072 )
2017
12
Corrigendum for: Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28861949 )
2017
13
Anesthetic Care of a Child With Congenital Pulmonary Agenesis and Indwelling Intrathoracic Tissue Expander Undergoing Posterior Spinal Fusion. ( 28774645 )
2017
14
Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult. ( 27790501 )
2016
15
Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children. ( 26891022 )
2016
16
Left lung agenesis discovered by a spontaneous pneumothorax in a 20-year-old girl. ( 27051112 )
2016
17
Management of a Patient With Tetralogy of Fallot, Congenital Diaphragmatic Hernia, and Complete Left Lung Agenesis. ( 27258177 )
2016
18
Dyspnoea in a patient with unilateral lung agenesis. ( 27281815 )
2016
19
Right Lung Agenesis with Tracheal Stenosis due to Complete Tracheal Rings and Postpneumonectomy Like Syndrome Treated with Tissue Expander Placement. ( 27882259 )
2016
20
Left Ventricular Assist Device Implantation in a Patient With Severe Cardiac Failure and Unilateral Pulmonary Agenesis. ( 26354084 )
2016
21
Adult patient with pulmonary agenesis: focusing on one-lung ventilation during general anesthesia. ( 26904240 )
2016
22
Right-side pulmonary agenesis with atrial septal defect in adult. ( 27081489 )
2016
23
Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn. ( 27551579 )
2016
24
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with unilateral pulmonary agenesis-a rarity indeed: radiologic review. ( 30363603 )
2016
25
Successful radiofrequency catheter ablation of atrioventricular nodal reentrant tachycardia in a patient with dextrocardia due to unilateral pulmonary agenesis: a case report. ( 25674017 )
2015
26
Neonatal repair of total anomalous pulmonary venous connection and lung agenesis. ( 24585319 )
2015
27
Pulmonary agenesis and respiratory failure in childhood. ( 26484321 )
2015
28
Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis. ( 25659560 )
2015
29
Left pulmonary agenesis showing extraordinary chest x-ray findings. ( 25932765 )
2015
30
Mitral valve replacement in an adult with left pulmonary agenesis. ( 26115155 )
2015
31
Pulmonary Agenesis and Associated Pulmonary Hypertension: A Case Report and Review on Variability, Therapy, and Outcome. ( 26171313 )
2015
32
Pulmonary Agenesis. ( 27164736 )
2015
33
Transcatheter Amplatzer Duct Occluder II closure of perimembranous ventricular septal defect with right lung agenesis. ( 25135329 )
2014
34
Persistent Cloaca associated with Unilateral Lung Agenesis- A Rare Presentation. ( 26023493 )
2014
35
Unilateral pulmonary agenesis: a report of four cases, two diagnosed antenatally and literature review. ( 24178867 )
2014
36
Pediatric cardiothoracic surgery in patients with unilateral pulmonary agenesis or aplasia. ( 24507772 )
2014
37
An adult case of isolated unilateral pulmonary agenesis under general anesthesia. ( 24534244 )
2014
38
Unilateral pulmonary agenesis. ( 25029657 )
2014
39
Isolated unilateral pulmonary agenesis and other fetal thoracic anomalies. ( 25101843 )
2014
40
Unilateral right pulmonary agenesis in adulthood. ( 25121044 )
2014
41
Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome. ( 24341150 )
2013
42
Esophageal atresia and tracheoesophageal fistula with unilateral pulmonary agenesis - hypoplasia. ( 26023441 )
2013
43
Prenatal diagnosis of fetal unilateral lung agenesis complicated with cardiac malposition. ( 23530545 )
2013
44
Unilateral pulmonary agenesis and gastric duplication cyst: a rare association. ( 23844300 )
2013
45
Pulmonary agenesis: A case report with review of literature. ( 25003063 )
2013
46
Usefulness of ultrasonography and MRI for diagnosis of fetal pulmonary agenesis: case report and review of the literature. ( 27277106 )
2013
47
Complete right lung agenesis presenting with bronchial asthma and allergic rhinitis. ( 23001088 )
2012
48
Complete right lung agenesis with dextrocardia: an unusual cause of respiratory distress. ( 23393637 )
2012
49
Right lung agenesis and dextrocardia in a paucisymptomatic 11-year-old child. ( 22088223 )
2012
50
First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome. ( 22309948 )
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....