Details of Disease | DrugMAP

General Information of Disease (ID: DISSDYEX)

Disease Name	Persistent fetal circulation syndrome
Synonyms	PPHN; persistent fetal circulation; persistent foetal circulation; persistent pulmonary hypertension of the newborn
Definition	A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.\|Editor note: consider relationship to MONDO:0009934
Disease Hierarchy	DISVJUAP: Congenital anomaly of cardiovascular system DISSDYEX: Persistent fetal circulation syndrome
Disease Identifiers	MONDO ID MONDO_0022430 MESH ID D010547 UMLS CUI C0031190 OMIM ID 265380 MedGen ID 45824 HPO ID HP:0011726 SNOMED CT ID 233815004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SIRPA	TTBRJS9	Limited	Biomarker	[1]
CPS1	TT42M75	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA3	DT2T6VQ	Limited	Genetic Variation	[3]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ESRP1	OTNCS4SL	Limited	Genetic Variation	[4]
OLA1	OTAPOTTG	Limited	Altered Expression	[5]
FOXF1	OT2CJZ5K	moderate	Biomarker	[6]
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References

1	Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice.PLoS One. 2014 Apr 10;9(4):e94390. doi: 10.1371/journal.pone.0094390. eCollection 2014.
2	Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.N Engl J Med. 2001 Jun 14;344(24):1832-8. doi: 10.1056/NEJM200106143442404.
3	Hereditary interstitial lung diseases manifesting in early childhood in Japan.Pediatr Res. 2014 Nov;76(5):453-8. doi: 10.1038/pr.2014.114. Epub 2014 Aug 8.
4	Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.Hum Genet. 2016 May;135(5):569-586. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12.
5	Decreased OLA1 (Obg-Like ATPase-1) Expression Drives Ubiquitin-Proteasome Pathways to Downregulate Mitochondrial SOD2 (Superoxide Dismutase) in Persistent Pulmonary Hypertension of the Newborn.Hypertension. 2019 Oct;74(4):957-966. doi: 10.1161/HYPERTENSIONAHA.119.13430. Epub 2019 Sep 3.
6	Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.Pulm Circ. 2018 Jul-Sep;8(3):2045894018795143. doi: 10.1177/2045894018795143. Epub 2018 Jul 30.