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 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, bone and testes, and related phenotype is pulmonary hypoplasia.

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:

57
Pulmonary:
bilateral pulmonary hypoplasia

Misc:
neonatal lethal


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, Bone, Testes, Bone Marrow, Heart, Kidney

Publications for Lung Agenesis

Articles related to Lung Agenesis:

(show top 50) (show all 89)
# 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
Corrigendum for: Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28861949 )
2017
4
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
5
Unilateral lung agenesis, aplasia or hypoplasia: Which one is it? ( 28742269 )
2017
6
Adult presentation of symptomatic left lung agenesis. ( 28228871 )
2017
7
Congenital Lung Agenesis: Incidence and Outcome in the North of England. ( 28402072 )
2017
8
Right-side pulmonary agenesis with atrial septal defect in adult. ( 27081489 )
2016
9
Management of a Patient With Tetralogy of Fallot, Congenital Diaphragmatic Hernia, and Complete Left Lung Agenesis. ( 27258177 )
2016
10
Right Lung Agenesis with Tracheal Stenosis due to Complete Tracheal Rings and Postpneumonectomy Like Syndrome Treated with Tissue Expander Placement. ( 27882259 )
2016
11
Adult patient with pulmonary agenesis: focusing on one-lung ventilation during general anesthesia. ( 26904240 )
2016
12
Left Ventricular Assist Device Implantation in a Patient With Severe Cardiac Failure and Unilateral Pulmonary Agenesis. ( 26354084 )
2016
13
Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children. ( 26891022 )
2016
14
Dyspnoea in a patient with unilateral lung agenesis. ( 27281815 )
2016
15
Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn. ( 27551579 )
2016
16
Left lung agenesis discovered by a spontaneous pneumothorax in a 20-year-old girl. ( 27051112 )
2016
17
Pulmonary agenesis and respiratory failure in childhood. ( 26484321 )
2015
18
Pulmonary Agenesis and Associated Pulmonary Hypertension: A Case Report and Review on Variability, Therapy, and Outcome. ( 26171313 )
2015
19
Pulmonary Agenesis. ( 27164736 )
2015
20
Successful radiofrequency catheter ablation of atrioventricular nodal reentrant tachycardia in a patient with dextrocardia due to unilateral pulmonary agenesis: a case report. ( 25674017 )
2015
21
Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis. ( 25659560 )
2015
22
Mitral valve replacement in an adult with left pulmonary agenesis. ( 26115155 )
2015
23
Left pulmonary agenesis showing extraordinary chest x-ray findings. ( 25932765 )
2015
24
Isolated unilateral pulmonary agenesis and other fetal thoracic anomalies. ( 25101843 )
2014
25
Pediatric cardiothoracic surgery in patients with unilateral pulmonary agenesis or aplasia. ( 24507772 )
2014
26
Persistent Cloaca associated with Unilateral Lung Agenesis- A Rare Presentation. ( 26023493 )
2014
27
Unilateral pulmonary agenesis. ( 25029657 )
2014
28
Unilateral right pulmonary agenesis in adulthood. ( 25121044 )
2014
29
An adult case of isolated unilateral pulmonary agenesis under general anesthesia. ( 24534244 )
2014
30
Unilateral pulmonary agenesis: a report of four cases, two diagnosed antenatally and literature review. ( 24178867 )
2014
31
Neonatal repair of total anomalous pulmonary venous connection and lung agenesis. ( 24585319 )
2014
32
Transcatheter Amplatzer Duct Occluder II closure of perimembranous ventricular septal defect with right lung agenesis. ( 25135329 )
2014
33
Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome. ( 24341150 )
2013
34
Prenatal diagnosis of fetal unilateral lung agenesis complicated with cardiac malposition. ( 23530545 )
2013
35
Usefulness of ultrasonography and MRI for diagnosis of fetal pulmonary agenesis: case report and review of the literature. ( 27277106 )
2013
36
Unilateral pulmonary agenesis and gastric duplication cyst: a rare association. ( 23844300 )
2013
37
Complete right lung agenesis presenting with bronchial asthma and allergic rhinitis. ( 23001088 )
2012
38
Right lung agenesis and dextrocardia in a paucisymptomatic 11-year-old child. ( 22088223 )
2012
39
First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome. ( 22309948 )
2012
40
Oesophageal atresia and tracheoesophageal fistula with right pulmonary agenesis and duplication of the azygos vein. ( 22123734 )
2012
41
Left lung agenesis associated with common origin of both coronary arteries. ( 23284132 )
2012
42
Complete right lung agenesis with dextrocardia: an unusual cause of respiratory distress. ( 23393637 )
2012
43
Aphallia, lung agenesis and multiple defects of blastogenesis. ( 21204662 )
2011
44
Repair of a ventricular septal defect in a patient with left lung agenesis. ( 21810119 )
2011
45
Treatment of spontaneous pneumothorax in a patient with right pulmonary agenesis. ( 21801896 )
2011
46
Balloon dilatation of tracheal restenosis in a patient with unilateral lung agenesis - an anesthetic challenge. ( 21793985 )
2011
47
Unilateral left lung agenesis with crossed-ectopic right lower lobe combined tricuspid atresia diagnosed by ECG gated computed tomography. ( 19660389 )
2010
48
Cardiac defect with diaphragmatic hernia and left lung agenesis--heart disease and other anomalies. ( 20922633 )
2010
49
Tracheal reconstruction in children with unilateral lung agenesis or severe hypoplasia. ( 19632424 )
2009
50
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

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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