Pulmonary agenesis

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.



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Total: 82 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(57.8%)
21815259
Potential teratogenic effects of allopurinol: a case report.
Kozenko M, Grynspan D, Oluyomi-Obi T, Sitar D, Elliott AM, Chodirker BN.
Am J Med Genet A. 2011;155A(9):2247-52.
Micrognathia
Abnormalities, Drug-Induced Antimetabolites Females Homo sapiens Infant, Newborn Kidney Calculi Male Pregnancy Pregnancy Complications Prenatal Exposure Delayed Effects Purines Teratogens
2
(39.0%)
8229618
A case of occipital encephalocele combined with right lung aplasia in a twin pregnancy.
Becker R, Novak A, Rudolph KH.
J Perinat Med. 1993;21(3):253-8.
Encephalocele
Adult Diseases in Twins Females Homo sapiens Lung Male Pregnancy Ultrasonography, Prenatal
3
(26.3%)
28607792
(5457769)
A Constellation of Rare Findings in a Case of Goldenhar Syndrome.
Bedi M, Jain RK, Barala VK, Singh A, Jha H.
Case Rep Pediatr. 2017;2017:3529093.
Preauricular skin tag
4
(23.3%)
19319794
[Unilateral pulmonary agenesis, aplasia and dysplasia].
Dembinski J, Kroll M, Lewin M, Winkler P.
Z Geburtshilfe Neonatol. 2009;213(2):56-61.
Hypertension Scoliosis
FGF10 PITX2
Females Homo sapiens Infant, Newborn Lung Male
4
(23.3%)
8610290
Pulmonary agenesis in a newborn: implantation of tissue expander to prevent a mediastinal shift.
Bittigau K, Bohm J, Kursawe R, Nowotny T, Bittigau P, Konertz W.
Thorac Cardiovasc Surg. 1995;43(5):287-9.
Emphysema Scoliosis
Adult Congenital Abnormality Dextrocardia Females Homo sapiens Infant Lung Male Pulmonary Emphysema Tissue Expansion Devices X-Ray Computed Tomography
6
(17.5%)
27790501
Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult.
Kumar P, Tansir G, Sasmal G, Dixit J, Sahoo R.
J Clin Diagn Res. 2016;10(9):OD15-OD17.
Bronchiectasis Hernia
6
(17.5%)
25659560
(4955509)
Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis.
Miyano G, Morita K, Kaneshiro M, Miyake H, Koyama M, Nouso H, Yamoto M, Nakano R, Tanaka Y, Nishiguchi T, Kawamura T, Fukumoto K, Urushihara N.
Afr J Paediatr Surg. 2015;12(1):86-8.
Jaundice Diaphragmatic eventration
Adult Differential Diagnosis Esophageal Atresia Esophagostomy Females Gastrostomy Homo sapiens Infant, Newborn Lung Pregnancy Radiography, Thoracic Thoracotomy Tracheoesophageal Fistula Ultrasonography, Prenatal
6
(17.5%)
24178867
Unilateral pulmonary agenesis: a report of four cases, two diagnosed antenatally and literature review.
Kayemba-Kay's S, Couvrat-Carcauzon V, Goua V, Podevin G, Marteau M, Sapin E, Levard G.
Pediatr Pulmonol. 2014;49(3):E96-102.
Emphysema Hernia
Adult Dextrocardia Females Homo sapiens Imaging, Three-Dimensional Infant, Newborn Lung Magnetic Resonance Imaging Male Ultrasonography, Prenatal Young Adult
6
(17.5%)
20922633
Cardiac defect with diaphragmatic hernia and left lung agenesis--heart disease and other anomalies.
Palma G, Giordano R, Russolillo V, Vosa C.
Thorac Cardiovasc Surg. 2010;58(7):439-40.
Hypertension Hernia
Child, Preschool Congenital Heart Defects Homo sapiens Lung Male Pulmonary Hypertension
6
(17.5%)
19299227
Bilateral diaphragmatic defect and associated multiple anomalies.
Karadeniz L, Guven S, Atay E, Ovali F, Celayir A.
J Chin Med Assoc. 2009;72(3):163-5.
Polyhydramnios Agenesis of the diaphragm
Homo sapiens Infant, Newborn Male Respiratory Diaphragm
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 38

HPO ID Term # of case reports
HP:0000568 Microphthalmia 7
HP:0002089 Pulmonary hypoplasia 6
HP:0002575 Tracheoesophageal fistula 5
HP:0002098 Respiratory distress 4
HP:0100790 Hernia 4
HP:0000528 Anophthalmia 3
HP:0000822 Hypertension 3
HP:0001629 Ventricular septal defect 3
HP:0002777 Tracheal stenosis 3
HP:0002108 Spontaneous pneumothorax 2
HP:0010775 Vascular ring 2
HP:0000085 Horseshoe kidney 1
HP:0000086 Ectopic kidney 1
HP:0000347 Micrognathia 1
HP:0000384 Preauricular skin tag 1
HP:0000609 Optic nerve hypoplasia 1
HP:0000853 Goiter 1
HP:0001511 Intrauterine growth retardation 1
HP:0001635 Congestive heart failure 1
HP:0001642 Pulmonic stenosis 1
HP:0001643 Patent ductus arteriosus 1
HP:0001649 Tachycardia 1
HP:0002079 Hypoplasia of the corpus callosum 1
HP:0002094 Dyspnea 1
HP:0002101 Abnormal lung lobation 1
HP:0002110 Bronchiectasis 1
HP:0002326 Transient ischemic attack 1
HP:0002617 Dilatation 1
HP:0005160 Total anomalous pulmonary venous return 1
HP:0005912 Biliary atresia 1
HP:0008986 Agenesis of the diaphragm 1
HP:0010566 Hamartoma 1
HP:0011410 Caesarian section 1
HP:0011565 Common atrium 1
HP:0011611 Interrupted aortic arch 1
HP:0011947 Respiratory tract infection 1
HP:0011950 Bronchiolitis 1
HP:0030707 Unilateral lung agenesis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID