MCID: PLM182
MIFTS: 32

Pulmonary Hypoplasia, Primary

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

Aliases & Classifications for Pulmonary Hypoplasia, Primary

MalaCards integrated aliases for Pulmonary Hypoplasia, Primary:

Name: Pulmonary Hypoplasia, Primary 56
Primary Pulmonary Hypoplasia 58 6
Pulmonary Agenesis 52 58
Lung Agenesis 56 52
Unilateral Lobar Pulmonary Agenesis 52
Congenital Lung Agenesis 52
Unilateral Lung Agenesis 52

Characteristics:

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
pulmonary hypoplasia, primary:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


Summaries for Pulmonary Hypoplasia, Primary

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 984 Definition A 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 : Pulmonary Hypoplasia, Primary, also known as primary pulmonary hypoplasia, is related to lung agenesis, congenital heart defects, and thumb anomalies syndrome and microphthalmia, syndromic 9. Affiliated tissues include lung, heart and kidney, and related phenotypes are pulmonary hypoplasia and restrictive ventilatory defect

OMIM : 56 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 Pulmonary Hypoplasia, Primary

Diseases in the Pulmonary Hypoplasia, Primary family:

Pulmonary Hypoplasia, Familial Primary

Diseases related to Pulmonary Hypoplasia, Primary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 lung agenesis, congenital heart defects, and thumb anomalies syndrome 12.6
2 microphthalmia, syndromic 9 12.2
3 manouvrier syndrome 11.9
4 tetraamelia syndrome 2 11.2
5 heart septal defect 10.1
6 pulmonary hypertension 10.1
7 ventricular septal defect 10.0
8 tracheal stenosis 10.0
9 dextrocardia 10.0
10 esophageal atresia 10.0
11 respiratory failure 10.0
12 renal hypodysplasia/aplasia 1 10.0
13 microphthalmia 10.0
14 microtia 10.0
15 hemifacial microsomia 9.9
16 tetralogy of fallot 9.9
17 patent ductus arteriosus 1 9.9
18 oligohydramnios 9.9
19 biliary atresia 9.9
20 aortic arch interruption 9.9
21 horseshoe kidney 9.9
22 diaphragmatic hernia, congenital 9.8
23 alkuraya-kucinskas syndrome 9.8
24 distal arthrogryposis 9.8
25 congenital amyoplasia 9.8
26 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.7
27 hernia, hiatus 9.7
28 holt-oram syndrome 9.7
29 pneumothorax, primary spontaneous 9.7
30 tracheoesophageal fistula with or without esophageal atresia 9.7
31 anus, imperforate 9.7
32 duodenal atresia 9.7
33 tracheobronchial stenosis, congenital 9.7
34 tricuspid atresia 9.7
35 atrioventricular septal defect 9.7
36 allergic rhinitis 9.7
37 asthma-related traits 4 9.7
38 scoliosis 9.7
39 cardiac arrest 9.7
40 dextro-looped transposition of the great arteries 9.7
41 diaphragmatic eventration 9.7
42 keratomalacia 9.7
43 heart disease 9.7
44 mitral valve insufficiency 9.7
45 varicocele 9.7
46 vacterl association 9.7
47 pneumothorax 9.7
48 vascular disease 9.7
49 atrial heart septal defect 9.7
50 bronchiolitis 9.7

Graphical network of the top 20 diseases related to Pulmonary Hypoplasia, Primary:



Diseases related to Pulmonary Hypoplasia, Primary

Symptoms & Phenotypes for Pulmonary Hypoplasia, Primary

Human phenotypes related to Pulmonary Hypoplasia, Primary:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary hypoplasia 58 31 obligate (100%) Obligate (100%) HP:0002089
2 restrictive ventilatory defect 58 31 frequent (33%) Frequent (79-30%) HP:0002091
3 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
4 neonatal respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002643
5 hypoxemia 58 31 frequent (33%) Frequent (79-30%) HP:0012418
6 tachypnea 58 31 frequent (33%) Frequent (79-30%) HP:0002789
7 cyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0000961
8 abnormal breath sound 58 31 frequent (33%) Frequent (79-30%) HP:0030829
9 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
10 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
11 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
12 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
13 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
14 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
15 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
16 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
17 dextrocardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001651
18 secundum atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001684
19 abnormal trachea morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002778
20 patellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003065
21 abnormality of the hemidiaphragms 58 31 occasional (7.5%) Occasional (29-5%) HP:0040045
22 asthma 58 31 very rare (1%) Very rare (<4-1%) HP:0002099
23 pneumothorax 58 31 very rare (1%) Very rare (<4-1%) HP:0002107
24 ureteral stenosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000071
25 abnormal pulmonary artery morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0030966
26 increased circulating surfactant protein level 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Misc:
neonatal lethal

Pulmonary:
bilateral pulmonary hypoplasia

Clinical features from OMIM:

265430

Drugs & Therapeutics for Pulmonary Hypoplasia, Primary

Search Clinical Trials , NIH Clinical Center for Pulmonary Hypoplasia, Primary

Genetic Tests for Pulmonary Hypoplasia, Primary

Anatomical Context for Pulmonary Hypoplasia, Primary

MalaCards organs/tissues related to Pulmonary Hypoplasia, Primary:

40
Lung, Heart, Kidney, Trachea, Liver, Adrenal Gland, Uterus

Publications for Pulmonary Hypoplasia, Primary

Articles related to Pulmonary Hypoplasia, Primary:

(show top 50) (show all 272)
# Title Authors PMID Year
1
Unilateral lobar pulmonary agenesis in sibs. 61 56
10970195 2000
2
Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman. 61 56
8597863 1995
3
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing. 56
30828993 2019
4
Neonatal Lung Disease Associated with TBX4 Mutations. 56
30413314 2019
5
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. 56
30639323 2019
6
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. 56
27374786 2016
7
Fog2 is required for normal diaphragm and lung development in mice and humans. 56
16103912 2005
8
Familial primary pulmonary hypoplasia. 56
7607292 1995
9
Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance. 56
8088304 1994
10
Primary (isolated) bilateral pulmonary hypoplasia: a comparative study of radiologic findings and autopsy results. 56
3703590 1986
11
Familial pulmonary hypoplasia. 56
608831 1977
12
Developmental lung anomalies in adults: A pictorial review. 61
31326738 2019
13
Aortic valve replacement and tricuspid valve annuloplasty via a left thoracotomy in an adult with left pulmonary agenesis. 61
29876725 2019
14
Anaesthetic management of a child with pulmonary agenesis for laparoscopic inguinal hernia repair. 61
31391632 2019
15
Dextrocardia with pulmonary hypoplasia: an unusual cause of unilateral lung white-out. 61
31142489 2019
16
Adult presentation of asymptomatic right lung agenesis: a rare anatomical variation. 61
30402711 2019
17
Hypoplasia of the left lung presenting as hemoptysis: A case report. 61
30681564 2019
18
CT features of lung agenesis - a case series (6 cases). 61
30376819 2018
19
Pulmonary agenesis: A rare entity. 61
29697094 2018
20
A 32-Year-Old Woman with Relapsing Pneumonia. 61
30756055 2018
21
Anesthetic Care of a Child With Congenital Pulmonary Agenesis and Indwelling Intrathoracic Tissue Expander Undergoing Posterior Spinal Fusion. 61
28774645 2017
22
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. 61
28417152 2017
23
Slide tracheoplasty outcomes in children with congenital pulmonary malformations. 61
27859296 2017
24
Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. 61
28398665 2017
25
Adult presentation of symptomatic left lung agenesis. 61
28228871 2017
26
EPIDURAL ANESTHESIA IN A PATIENT WITH LUNG APLASIA AND SKELETON DEFORMATION UNDERGOING ABDOMINAL HYSTERECTOMY: A CASE REPORT. 61
29932582 2017
27
Paediatric haemoptysis and the otorhinolaryngologist: Systematic review. 61
28012543 2017
28
A Constellation of Rare Findings in a Case of Goldenhar Syndrome. 61
28607792 2017
29
Clinical diagnostic approach to congenital agenesis of right lung with dextrocardia: a case report with review of literature. 61
25689299 2016
30
Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult. 61
27790501 2016
31
[Acute dyspnoea triggered by spontaneous pneumothorax in a pregnant woman with pulmonary agenesis]. 61
27549006 2016
32
Right-side pulmonary agenesis with atrial septal defect in adult. 61
27081489 2016
33
Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn. 61
27551579 2016
34
Left Ventricular Assist Device Implantation in a Patient With Severe Cardiac Failure and Unilateral Pulmonary Agenesis. 61
26354084 2016
35
Adult patient with pulmonary agenesis: focusing on one-lung ventilation during general anesthesia. 61
26904240 2016
36
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with unilateral pulmonary agenesis-a rarity indeed: radiologic review. 61
30363603 2016
37
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. 61
26373900 2016
38
Pulmonary hypoplasia presenting with recurrent wheezing in an infant. 61
24798948 2015
39
Pulmonary Agenesis. 61
27164736 2015
40
Mitral valve replacement in an adult with left pulmonary agenesis. 61
26115155 2015
41
Pulmonary Agenesis and Associated Pulmonary Hypertension: A Case Report and Review on Variability, Therapy, and Outcome. 61
26171313 2015
42
Left pulmonary agenesis showing extraordinary chest x-ray findings. 61
25932765 2015
43
Successful radiofrequency catheter ablation of atrioventricular nodal reentrant tachycardia in a patient with dextrocardia due to unilateral pulmonary agenesis: a case report. 61
25674017 2015
44
Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis. 61
25659560 2015
45
Pulmonary arterial hypertension associated with tetralogy of Fallot. 61
25787793 2015
46
Pulmonary agenesis and respiratory failure in childhood. 61
26484321 2015
47
Looking beyond the thrombus: essentials of pulmonary artery imaging on CT. 61
25001069 2014
48
[Rare case of bilateral pulmonary agenesis and prenatal diagnosis]. 61
24934770 2014
49
Isolated unilateral pulmonary agenesis and other fetal thoracic anomalies. 61
25101843 2014
50
Unilateral right pulmonary agenesis in adulthood. 61
25121044 2014

Variations for Pulmonary Hypoplasia, Primary

ClinVar genetic disease variations for Pulmonary Hypoplasia, Primary:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX4 NM_001321120.2(TBX4):c.256G>A (p.Glu86Lys)SNV Uncertain significance 800378 17:59534967-59534967 17:61457606-61457606

Expression for Pulmonary Hypoplasia, Primary

Search GEO for disease gene expression data for Pulmonary Hypoplasia, Primary.

Pathways for Pulmonary Hypoplasia, Primary

GO Terms for Pulmonary Hypoplasia, Primary

Sources for Pulmonary Hypoplasia, Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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