Details of Disease

General Information of Disease (ID: DIS1IYUN)

• Disease Name: Congenital alveolar dysplasia
• Synonyms: CAD
• Definition: A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.
• Disease Hierarchy:
  DISHIIPI: Congenital pulmonary veins anomaly
  DIS1IYUN: Congenital alveolar dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0100077
  MESH ID: D012127
  UMLS CUI: C0035220
  MedGen ID: 20539
  HPO ID: HP:0033210
  SNOMED CT ID: 46775006

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Calfactant	DM7N16W	Approved	NA	[1]
Lucinactant	DMOFFAR	Approved	NA	[2]

This Disease is Treated as An Indication in 1 Discontinued Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Tyloxapol	DMR3S9B	Terminated	Small molecular drug	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCA4	TTLB52K	Limited	Genetic Variation	[4]
TST	TT51OTS	Disputed	Biomarker	[5]
TNNT2	TTWAS18	moderate	Biomarker	[6]
GLRX	TTRJCNG	Strong	Genetic Variation	[7]
GUCY2D	TTWNFC2	Strong	Genetic Variation	[8]
NPSR1	TTV1C0Z	Strong	Genetic Variation	[9]
SCGB1A1	TTONPVW	Strong	Biomarker	[10]
SFTPD	TTGLMU7	Strong	Altered Expression	[11]
SRGN	TTCHB06	Strong	Biomarker	[7]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA3	DT2T6VQ	Strong	Biomarker	[12]
SLC22A4	DT2EG60	Strong	Biomarker	[13]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP3A7	DERD86B	Strong	Genetic Variation	[14]

This Disease Is Related to 25 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CNMD	OTHND8EL	Limited	Biomarker	[15]
ITM2B	OTMXEPXB	Limited	Genetic Variation	[15]
PRPH	OT6VUH78	Limited	Genetic Variation	[16]
PRPH2	OTNH2G5H	Limited	Biomarker	[5]
ROM1	OTE7H0YV	Limited	Genetic Variation	[16]
SCNN1A	OTE2KVZV	Limited	Genetic Variation	[17]
RSPH1	OT3MR73R	Disputed	Genetic Variation	[18]
ADCY9	OT1IZT5K	Strong	Genetic Variation	[14]
CA11	OT8RX3AJ	Strong	Biomarker	[19]
CENPJ	OTZCQZN5	Strong	Biomarker	[20]
CLTA	OTLHOXMQ	Strong	Genetic Variation	[8]
NDST1	OT9E10W2	Strong	Biomarker	[21]
NKX2-1	OTCMEJTA	Strong	Genetic Variation	[22]
PARPBP	OTPZDGW7	Strong	Biomarker	[23]
PHF5A	OTS94JFM	Strong	Genetic Variation	[24]
PLA2G10	OTRZ2L5A	Strong	Altered Expression	[25]
PTBP2	OTF4S7NE	Strong	Biomarker	[26]
RAB27A	OT9SQRWY	Strong	Genetic Variation	[27]
RAD1	OT886MA8	Strong	Biomarker	[28]
RAMAC	OTAFAKPR	Strong	Genetic Variation	[27]
SERPINB1	OT5RDUFO	Strong	Biomarker	[29]
SFTPA1	OT87XL1U	Strong	Genetic Variation	[30]
SFTPA2	OT6SFOMU	Strong	Genetic Variation	[30]
TAPBP	OTL81AVZ	Strong	Genetic Variation	[31]
MEGF10	OTILSPJ6	Definitive	Biomarker	[32]

References

• [1] Comparative effectiveness of calfactant and beractant in neonatal respiratory distress syndrome: A systemic review and meta-analysis. Pediatr Pulmonol. 2022 Dec;57(12):2928-2936.
• [2] Lucinactant FDA Label
• [3] Tyloxapol FDA Label
• [4] Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.Am J Respir Cell Mol Biol. 2016 Nov;55(5):716-721. doi: 10.1165/rcmb.2016-0008OC.
• [5] A new low-cost commercial bubble CPAP (bCPAP) machine compared with a traditional bCPAP device in Nigeria.Paediatr Int Child Health. 2019 Aug;39(3):184-192. doi: 10.1080/20469047.2019.1598125. Epub 2019 Apr 8.
• [6] Effect of patent ductus arteriosus and indomethacin treatment on serum cardiac troponin T levels in preterm infants with respiratory distress syndrome.Eur J Pediatr. 2000 Apr;159(4):273-6. doi: 10.1007/s004310050069.
• [7] Steroid Pathway Genes and Neonatal Respiratory Distress After Betamethasone Use in Anticipated Preterm Birth.Reprod Sci. 2016 May;23(5):680-6. doi: 10.1177/1933719115612129. Epub 2015 Oct 27.
• [8] PRPH2/RDS and ROM-1: Historical context, current views and future considerations.Prog Retin Eye Res. 2016 May;52:47-63. doi: 10.1016/j.preteyeres.2015.12.002. Epub 2016 Jan 8.
• [9] G protein-coupled receptor for asthma susceptibility associates with respiratory distress syndrome.Ann Med. 2006;38(5):357-66. doi: 10.1080/07853890600756453.
• [10] Clara Cell Protein Expression in Mechanically Ventilated Term and Preterm Infants with Respiratory Distress Syndrome and at Risk of Bronchopulmonary Dysplasia: A Pilot Study.Can Respir J. 2017;2017:8074678. doi: 10.1155/2017/8074678. Epub 2017 Apr 11.
• [11] Serum surfactant protein D as a marker for bronchopulmonary dysplasia.J Matern Fetal Neonatal Med. 2019 Mar;32(5):815-819. doi: 10.1080/14767058.2017.1392506. Epub 2017 Oct 26.
• [12] Surfactant deficiency syndrome in an infant with a C-terminal frame shift in ABCA3: A case report.Pediatr Pulmonol. 2018 May;53(5):E12-E14. doi: 10.1002/ppul.23994. Epub 2018 Mar 22.
• [13] A randomized controlled trial of the laryngeal mask airway for surfactant administration in neonates.J Pediatr (Rio J). 2017 Jul-Aug;93(4):343-350. doi: 10.1016/j.jped.2016.08.007. Epub 2017 Jan 25.
• [14] The impact of drug metabolizing enzyme polymorphisms on outcomes after antenatal corticosteroid use.Am J Obstet Gynecol. 2012 May;206(5):447.e17-24. doi: 10.1016/j.ajog.2012.02.016. Epub 2012 Feb 28.
• [15] BRICHOS domain associated with lung fibrosis, dementia and cancer--a chaperone that prevents amyloid fibril formation?.FEBS J. 2011 Oct;278(20):3893-904. doi: 10.1111/j.1742-4658.2011.08209.x. Epub 2011 Jul 5.
• [16] Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1972-82.
• [17] Association of SCNN1A Single Nucleotide Polymorphisms with neonatal respiratory distress syndrome.Sci Rep. 2015 Nov 27;5:17317. doi: 10.1038/srep17317.
• [18] Mice with a Deletion of Rsph1 Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype.Am J Respir Cell Mol Biol. 2019 Sep;61(3):312-321. doi: 10.1165/rcmb.2017-0387OC.
• [19] BRICHOS: a conserved domain in proteins associated with dementia, respiratory distress and cancer.Trends Biochem Sci. 2002 Jul;27(7):329-32. doi: 10.1016/s0968-0004(02)02134-5.
• [20] Evaluation of the effect of antenatal betamethasone on neonatal respiratory morbidity in early-term elective cesarean.J Matern Fetal Neonatal Med. 2020 Jun;33(12):1994-1999. doi: 10.1080/14767058.2018.1535587. Epub 2019 Mar 5.
• [21] Targeted disruption of NDST-1 gene leads to pulmonary hypoplasia and neonatal respiratory distress in mice.FEBS Lett. 2000 Feb 4;467(1):7-11. doi: 10.1016/s0014-5793(00)01111-x.
• [22] The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. Eur J Med Genet. 2018 Jul;61(7):393-398. doi: 10.1016/j.ejmg.2018.02.007. Epub 2018 Feb 22.
• [23] Combined measurement of fetal lung volume and pulmonary artery resistance index is more accurate for prediction of neonatal respiratory distress syndrome in preterm fetuses: a pilot study.J Matern Fetal Neonatal Med. 2019 Feb;32(4):626-632. doi: 10.1080/14767058.2017.1387891. Epub 2017 Oct 12.
• [24] Correlation of expression levels of caspase-3 and Bcl-2 in alveolar lavage fluid in neonatal respiratory distress syndrome and prognosis.Exp Ther Med. 2018 Mar;15(3):2891-2895. doi: 10.3892/etm.2018.5755. Epub 2018 Jan 16.
• [25] Cord blood Clara cell protein CC16 predicts the development of bronchopulmonary dysplasia.Eur J Pediatr. 2008 Nov;167(11):1305-12. doi: 10.1007/s00431-008-0713-2. Epub 2008 Jun 3.
• [26] Genetic associations of surfactant protein D and angiotensin-converting enzyme with lung disease in preterm neonates.J Perinatol. 2012 May;32(5):349-55. doi: 10.1038/jp.2011.104. Epub 2011 Sep 29.
• [27] A randomized trial comparing the short binasal prong to the RAM cannula for noninvasive ventilation support of preterm infants with respiratory distress syndrome.J Matern Fetal Neonatal Med. 2021 Jun;34(12):1868-1874. doi: 10.1080/14767058.2019.1651268. Epub 2019 Aug 8.
• [28] Disruption of the Rad9/Rad1/Hus1 (9-1-1) complex leads to checkpoint signaling and replication defects.Oncogene. 2004 Jul 22;23(33):5586-93. doi: 10.1038/sj.onc.1207753.
• [29] Relationship of proteinases and proteinase inhibitors with microbial presence in chronic lung disease of prematurity.Thorax. 2010 Mar;65(3):246-51. doi: 10.1136/thx.2009.116061.
• [30] Surfactant Protein A and B Gene Polymorphisms and Risk of Respiratory Distress Syndrome in Late-Preterm Neonates.PLoS One. 2016 Nov 11;11(11):e0166516. doi: 10.1371/journal.pone.0166516. eCollection 2016.
• [31] Understanding the relationship between hospital volume and patient outcomes for infants with gastroschisis.J Pediatr Surg. 2017 Dec;52(12):1977-1980. doi: 10.1016/j.jpedsurg.2017.08.065. Epub 2017 Sep 5.
• [32] Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet. 2011 Nov 20;43(12):1189-92. doi: 10.1038/ng.995.