PedAM

Pediatric Disease Annotations & Medicines


	patent ductus arteriosus

Disease ID	491
Disease	patent ductus arteriosus
Definition	A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth.
Synonym	arteriosis ductus patent arteriosus ductus patent ductus arteriosus persistent ductus arteriosus, patent ductus arteriosus, patent [disease/finding] patency of the ductus arteriosus patent arterial duct patent arteriosus ductus patent ductus arteriosis patent ductus arteriosus (disorder) patent ductus arteriosus - persisting type patent ductus botalli pda pda - patent ductus arteriosus persistent arterial duct persistent ductus arteriosus
Orphanet	ORPHANET:706
OMIM	OMIM:607411
DOID	DOID:13832
ICD10	ICD10CM:Q25.0
UMLS	C0013274
MeSH	D004374
SNOMED-CT	SNOMEDCT_US_2016_09_01:83330001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:32) C0020538 \| hypertension \| 11 C0020542 \| pulmonary hypertension \| 11 C1619734 \| pulmonary arterial hypertension \| 6 C0018818 \| ventricular septal defect \| 5 C0014118 \| endocarditis \| 4 C0003486 \| aortic aneurysm \| 3 C0040034 \| thrombocytopenia \| 3 C1704437 \| respiratory distress syndrome \| 2 C0014121 \| infective endocarditis \| 2 C0026269 \| mitral stenosis \| 2 C0002871 \| anemia \| 2 C0175703 \| tar syndrome \| 2 C0152021 \| congenital heart disease \| 2 C0002878 \| hemolytic anemia \| 1 C0021845 \| intestinal perforation \| 1 C0018802 \| congestive heart failure \| 1 C0002888 \| megaloblastic anemia \| 1 C0008924 \| cleft lip \| 1 C0031190 \| persistent pulmonary hypertension of the newborn \| 1 C0020501 \| primary hyperoxaluria \| 1 C1960469 \| left ventricular noncompaction \| 1 C0265344 \| donohue syndrome \| 1 C0026691 \| kawasaki disease \| 1 C0016522 \| secundum atrial septal defect \| 1 C0018816 \| septal defects \| 1 C0040188 \| tic disorders \| 1 C0018818 \| ventricular septal defects \| 1 C0264766 \| rheumatic mitral stenosis \| 1 C0008925 \| cleft palate \| 1 C0018799 \| heart disease \| 1 C0018801 \| heart failure \| 1 C0016522 \| patent foramen ovale \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) TRAF1 \| 7185 \| CTD_human NPPA \| 4878 \| CTD_human PTGIS \| 5740 \| CTD_human AGTR1 \| 185 \| CTD_human TFAP2B \| 7021 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:128) 4629 \| MYH11 \| infer 19 \| ABCA1 \| infer 85320 \| ABCC11 \| infer 154 \| ADRB2 \| infer 8644 \| AKR1C3 \| infer 217 \| ALDH2 \| infer 335 \| APOA1 \| infer 337 \| APOA4 \| infer 116519 \| APOA5 \| infer 338 \| APOB \| infer 344 \| APOC2 \| infer 345 \| APOC3 \| infer 348 \| APOE \| infer 329 \| BIRC2 \| infer 330 \| BIRC3 \| infer 1071 \| CETP \| infer 3075 \| CFH \| infer 55636 \| CHD7 \| infer 1137 \| CHRNA4 \| infer 1394 \| CRHR1 \| infer 1583 \| CYP11A1 \| infer 1584 \| CYP11B1 \| infer 1586 \| CYP17A1 \| infer 1543 \| CYP1A1 \| infer 1544 \| CYP1A2 \| infer 1557 \| CYP2C19 \| infer 1559 \| CYP2C9 \| infer 1565 \| CYP2D6 \| infer 1571 \| CYP2E1 \| infer 1644 \| DDC \| infer 1672 \| DEFB1 \| infer 1718 \| DHCR24 \| infer 1717 \| DHCR7 \| infer 1719 \| DHFR \| infer 1906 \| EDN1 \| infer 1907 \| EDN2 \| infer 2033 \| EP300 \| infer 2052 \| EPHX1 \| infer 2099 \| ESR1 \| infer 2162 \| F13A1 \| infer 2147 \| F2 \| infer 2153 \| F5 \| infer 355 \| FAS \| infer 2326 \| FMO1 \| infer 2328 \| FMO3 \| infer 2348 \| FOLR1 \| infer 9568 \| GABBR2 \| infer 2618 \| GART \| infer 2811 \| GP1BA \| infer 51206 \| GP6 \| infer 2952 \| GSTT1 \| infer 3106 \| HLA-B \| infer 3135 \| HLA-G \| infer 3156 \| HMGCR \| infer 3248 \| HPGD \| infer 3290 \| HSD11B1 \| infer 3291 \| HSD11B2 \| infer 3283 \| HSD3B1 \| infer 3458 \| IFNG \| infer 3479 \| IGF1 \| infer 3481 \| IGF2 \| infer 3586 \| IL10 \| infer 3587 \| IL10RA \| infer 3552 \| IL1A \| infer 3553 \| IL1B \| infer 7850 \| IL1R2 \| infer 3557 \| IL1RN \| infer 3565 \| IL4 \| infer 3567 \| IL5 \| infer 3569 \| IL6 \| infer 3673 \| ITGA2 \| infer 3690 \| ITGB3 \| infer 3782 \| KCNN3 \| infer 3931 \| LCAT \| infer 3949 \| LDLR \| infer 3990 \| LIPC \| infer 4023 \| LPL \| infer 4153 \| MBL2 \| infer 4312 \| MMP1 \| infer 4318 \| MMP9 \| infer 4522 \| MTHFD1 \| infer 4524 \| MTHFR \| infer 4548 \| MTR \| infer 4552 \| MTRR \| infer 10 \| NAT2 \| infer 4837 \| NNMT \| infer 4843 \| NOS2 \| infer 1728 \| NQO1 \| infer 2908 \| NR3C1 \| infer 4988 \| OPRM1 \| infer 5020 \| OXT \| infer 5021 \| OXTR \| infer 5241 \| PGR \| infer 5321 \| PLA2G4A \| infer 5728 \| PTEN \| infer 5731 \| PTGER1 \| infer 5732 \| PTGER2 \| infer 5734 \| PTGER4 \| infer 9536 \| PTGES \| infer 80142 \| PTGES2 \| infer 5737 \| PTGFR \| infer 5740 \| PTGIS \| infer 5742 \| PTGS1 \| infer 5743 \| PTGS2 \| infer 5781 \| PTPN11 \| infer 84268 \| RPAIN \| infer 866 \| SERPINA6 \| infer 6439 \| SFTPB \| infer 6441 \| SFTPD \| infer 6470 \| SHMT1 \| infer 6573 \| SLC19A1 \| infer 283652 \| SLC24A5 \| infer 6899 \| TBX1 \| infer 6910 \| TBX5 \| infer 7021 \| TFAP2B \| infer 7040 \| TGFB1 \| infer 7046 \| TGFBR1 \| infer 7048 \| TGFBR2 \| infer 7099 \| TLR4 \| infer 7124 \| TNF \| infer 7128 \| TNFAIP3 \| infer 7132 \| TNFRSF1A \| infer 7133 \| TNFRSF1B \| infer 8717 \| TRADD \| infer 7185 \| TRAF1 \| infer 7186 \| TRAF2 \| infer 7422 \| VEGFA \| infer 9839 \| ZEB2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:208) 7092 \| TLL1 \| DISEASES 5351 \| PLOD1 \| DISEASES 50 \| ACO2 \| DISEASES 2937 \| GSS \| DISEASES 140679 \| SLC32A1 \| DISEASES 10857 \| PGRMC1 \| DISEASES 64714 \| PDIA2 \| DISEASES 51285 \| RASL12 \| DISEASES 8797 \| TNFRSF10A \| DISEASES 3199 \| HOXA2 \| DISEASES 59 \| ACTA2 \| DISEASES 952 \| CD38 \| DISEASES 56920 \| SEMA3G \| DISEASES 10560 \| SLC19A2 \| DISEASES 3764 \| KCNJ8 \| DISEASES 7291 \| TWIST1 \| DISEASES 540 \| ATP7B \| DISEASES 130399 \| ACVR1C \| DISEASES 3623 \| INHA \| DISEASES 54210 \| TREM1 \| DISEASES 6659 \| SOX4 \| DISEASES 51299 \| NRN1 \| DISEASES 6945 \| MLX \| DISEASES 2657 \| GDF1 \| DISEASES 27245 \| AHDC1 \| DISEASES 3232 \| HOXD3 \| DISEASES 3630 \| INS \| DISEASES 6299 \| SALL1 \| DISEASES 2006 \| ELN \| DISEASES 3741 \| KCNA5 \| DISEASES 9997 \| SCO2 \| DISEASES 182 \| JAG1 \| DISEASES 1401 \| CRP \| DISEASES 3569 \| IL6 \| DISEASES 55997 \| CFC1 \| DISEASES 9568 \| GABBR2 \| DISEASES 1559 \| CYP2C9 \| DISEASES 23314 \| SATB2 \| DISEASES 10060 \| ABCC9 \| DISEASES 2196 \| FAT2 \| DISEASES 6521 \| SLC4A1 \| DISEASES 2294 \| FOXF1 \| DISEASES 2201 \| FBN2 \| DISEASES 27443 \| CECR2 \| DISEASES 7290 \| HIRA \| DISEASES 4854 \| NOTCH3 \| DISEASES 90 \| ACVR1 \| DISEASES 7531 \| YWHAE \| DISEASES 2121 \| EVC \| DISEASES 54504 \| CPVL \| DISEASES 38 \| ACAT1 \| DISEASES 8034 \| SLC25A16 \| DISEASES 7008 \| TEF \| DISEASES 55089 \| SLC38A4 \| DISEASES 55117 \| SLC6A15 \| DISEASES 51411 \| BIN2 \| DISEASES 92579 \| G6PC3 \| DISEASES 2627 \| GATA6 \| DISEASES 5141 \| PDE4A \| DISEASES 5972 \| REN \| DISEASES 6769 \| STAC \| DISEASES 80854 \| SETD7 \| DISEASES 23092 \| ARHGAP26 \| DISEASES 3934 \| LCN2 \| DISEASES 4851 \| NOTCH1 \| DISEASES 25836 \| NIPBL \| DISEASES 1360 \| CPB1 \| DISEASES 6328 \| SCN3A \| DISEASES 64795 \| RMND5A \| DISEASES 22934 \| RPIA \| DISEASES 23643 \| LY96 \| DISEASES 9947 \| MAGEC1 \| DISEASES 23118 \| TAB2 \| DISEASES 26060 \| APPL1 \| DISEASES 54361 \| WNT4 \| DISEASES 70 \| ACTC1 \| DISEASES 197131 \| UBR1 \| DISEASES 1636 \| ACE \| DISEASES 56894 \| AGPAT3 \| DISEASES 5731 \| PTGER1 \| DISEASES 10158 \| PDZK1IP1 \| DISEASES 213 \| ALB \| DISEASES 3248 \| HPGD \| DISEASES 64399 \| HHIP \| DISEASES 94234 \| FOXQ1 \| DISEASES 115825 \| WDFY2 \| DISEASES 9317 \| PTER \| DISEASES 55800 \| SCN3B \| DISEASES 3233 \| HOXD4 \| DISEASES 5734 \| PTGER4 \| DISEASES 84342 \| COG8 \| DISEASES 197259 \| MLKL \| DISEASES 6910 \| TBX5 \| DISEASES 3849 \| KRT2 \| DISEASES 6578 \| SLCO2A1 \| DISEASES 28976 \| ACAD9 \| DISEASES 8557 \| TCAP \| DISEASES 11238 \| CA5B \| DISEASES 163 \| AP2B1 \| DISEASES 3737 \| KCNA2 \| DISEASES 8490 \| RGS5 \| DISEASES 783 \| CACNB2 \| DISEASES 137814 \| NKX2-6 \| DISEASES 51715 \| RAB23 \| DISEASES 78987 \| CRELD1 \| DISEASES 23212 \| RRS1 \| DISEASES 8243 \| SMC1A \| DISEASES 79054 \| TRPM8 \| DISEASES 4642 \| MYO1D \| DISEASES 255520 \| ELMOD2 \| DISEASES 1482 \| NKX2-5 \| DISEASES 5136 \| PDE1A \| DISEASES 6899 \| TBX1 \| DISEASES 222546 \| RFX6 \| DISEASES 342184 \| FMN1 \| DISEASES 2626 \| GATA4 \| DISEASES 9547 \| CXCL14 \| DISEASES 51339 \| DACT1 \| DISEASES 554 \| AVPR2 \| DISEASES 3266 \| ERAS \| DISEASES 7137 \| TNNI3 \| DISEASES 259307 \| IL4I1 \| DISEASES 7273 \| TTN \| DISEASES 3767 \| KCNJ11 \| DISEASES 2070 \| EYA4 \| DISEASES 3476 \| IGBP1 \| DISEASES 5733 \| PTGER3 \| DISEASES 5887 \| RAD23B \| DISEASES 871 \| SERPINH1 \| DISEASES 404552 \| SCGB1D4 \| DISEASES 7048 \| TGFBR2 \| DISEASES 8913 \| CACNA1G \| DISEASES 55503 \| TRPV6 \| DISEASES 773 \| CACNA1A \| DISEASES 9782 \| MATR3 \| DISEASES 4512 \| MT-CO1 \| DISEASES 5742 \| PTGS1 \| DISEASES 9126 \| SMC3 \| DISEASES 54510 \| PCDH18 \| DISEASES 7044 \| LEFTY2 \| DISEASES 7042 \| TGFB2 \| DISEASES 7139 \| TNNT2 \| DISEASES 5743 \| PTGS2 \| DISEASES 9213 \| XPR1 \| DISEASES 10370 \| CITED2 \| DISEASES 1892 \| ECHS1 \| DISEASES 257 \| ALX3 \| DISEASES 2316 \| FLNA \| DISEASES 55510 \| DDX43 \| DISEASES 60495 \| HPSE2 \| DISEASES 1486 \| CTBS \| DISEASES 9124 \| PDLIM1 \| DISEASES 1718 \| DHCR24 \| DISEASES 84890 \| ADO \| DISEASES 80114 \| BICC1 \| DISEASES 7185 \| TRAF1 \| DISEASES 9968 \| MED12 \| DISEASES 27301 \| APEX2 \| DISEASES 7046 \| TGFBR1 \| DISEASES 4855 \| NOTCH4 \| DISEASES 57818 \| G6PC2 \| DISEASES 4920 \| ROR2 \| DISEASES 3055 \| HCK \| DISEASES 9656 \| MDC1 \| DISEASES 4879 \| NPPB \| DISEASES 256297 \| PTF1A \| DISEASES 1471 \| CST3 \| DISEASES 2550 \| GABBR1 \| DISEASES 388585 \| HES5 \| DISEASES 170302 \| ARX \| DISEASES 6303 \| SAT1 \| DISEASES 1906 \| EDN1 \| DISEASES 7020 \| TFAP2A \| DISEASES 11082 \| ESM1 \| DISEASES 55835 \| CENPJ \| DISEASES 55576 \| STAB2 \| DISEASES 94 \| ACVRL1 \| DISEASES 7247 \| TSN \| DISEASES 6833 \| ABCC8 \| DISEASES 80309 \| SPHKAP \| DISEASES 7021 \| TFAP2B \| DISEASES 347734 \| SLC35B2 \| DISEASES 6439 \| SFTPB \| DISEASES 4629 \| MYH11 \| DISEASES 7760 \| ZNF213 \| DISEASES 5048 \| PAFAH1B1 \| DISEASES 152330 \| CNTN4 \| DISEASES 81502 \| HM13 \| DISEASES 344022 \| NOTO \| DISEASES 6314 \| ATXN7 \| DISEASES 93166 \| PRDM6 \| DISEASES 57057 \| TBX20 \| DISEASES 57703 \| CWC22 \| DISEASES 23066 \| CAND2 \| DISEASES 55252 \| ASXL2 \| DISEASES 55636 \| CHD7 \| DISEASES 64324 \| NSD1 \| DISEASES 93649 \| MYOCD \| DISEASES 79827 \| CLMP \| DISEASES 57862 \| ZNF410 \| DISEASES 1028 \| CDKN1C \| DISEASES 114803 \| MYSM1 \| DISEASES 51366 \| UBR5 \| DISEASES 3347 \| HTN3 \| DISEASES 3987 \| LIMS1 \| DISEASES 8972 \| MGAM \| DISEASES 64220 \| STRA6 \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	491
Disease	patent ductus arteriosus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:44) HP:0002092 \| Pulmonary artery hypertension \| 13 HP:0000822 \| Hypertension \| 11 HP:0001518 \| Small for gestational age \| 7 HP:0012382 \| Left-to-right shunt \| 6 HP:0001629 \| Ventricular septal defects \| 5 HP:0001631 \| Atria septal defect \| 5 HP:0002617 \| Aneurysmal dilatation \| 4 HP:0004942 \| Aortic aneurysm \| 3 HP:0012383 \| Bidirectional shunt \| 3 HP:0001873 \| Low platelet count \| 3 HP:0001718 \| Mitral stenosis \| 2 HP:0011626 \| Scimitar anomaly \| 2 HP:0100584 \| Endocarditis \| 2 HP:0012020 \| Right aortic arch \| 2 HP:0100806 \| Sepsis \| 2 HP:0001903 \| Anemia \| 2 HP:0002098 \| Respiratory distress \| 2 HP:0001635 \| Congestive heart failure \| 1 HP:0030148 \| Heart murmur \| 1 HP:0002631 \| Ascending aortic aneurysm \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0001889 \| Megaloblastic anemia \| 1 HP:0011641 \| Coronary artery fistula \| 1 HP:0000062 \| Ambiguous external genitalia \| 1 HP:0004935 \| Pulmonary atresia \| 1 HP:0001671 \| Abnormality of the cardiac septa \| 1 HP:0001655 \| Patent foramen ovale \| 1 HP:0100033 \| Tic disorder \| 1 HP:0011611 \| Interrupted aortic arch \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0003470 \| Inability to move \| 1 HP:0002835 \| Aspiration \| 1 HP:0004961 \| Pulmonary artery sling \| 1 HP:0011662 \| Tricuspid atresia \| 1 HP:0030682 \| Left ventricular noncompaction \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0004971 \| Pulmonary artery hypoplasia \| 1 HP:0001217 \| Digital clubbing \| 1 HP:0001684 \| Secundum atrial septal defect \| 1 HP:0005162 \| Left ventricular impairment \| 1 HP:0030746 \| Intraventricular hemorrhage \| 1 HP:0001605 \| Vocal cord paralysis \| 1

Disease ID	491
Disease	patent ductus arteriosus
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1056567	19336370	7185	TRAF1	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.122367032	2009	PHF19	9	120869767	A	G
rs173365	19336370	1394	CRHR1	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.002367032	2009	CRHR1;MGC57346-CRHR1	17	45823708	A	G
rs1973028	19336370	3990	LIPC	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.002367032	2009	LIPC;LOC101928694	15	58499155	T	C
rs2817399	20581741	7021	TFAP2B	umls:C0013274	BeFree	Three independent risk factors (immature gestation, absence of antenatal glucocorticoid exposure, and presence of the rs2817399(A) allele of the gene TFAP2B) are associated with patent ductus arteriosus (PDAs) that fail to close during prostaglandin inhibition.	0.126720033	2010	TFAP2B	6	50836808	A	G
rs28360521	19336370	1565	CYP2D6	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.002367032	2009	CYP2D6	22	42132969	C	T
rs397507444	24566197	4524	MTHFR	umls:C0013274	BeFree	Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects.	0.002909916	2014	MTHFR	1	11794407	T	G
rs493694	19336370	5740	PTGIS	umls:C0013274	GAD	[Overall, our data support a role for genetic variations in transcription factor AP-2 beta, tumor necrosis factor receptor-associated factor 1, and prostacyclin synthase in the persistent patency of the ductus arteriosus seen in preterm infants.]	0.122638474	2009	PTGIS;LOC101927486	20	49566593	T	C
rs711752	19336370	1071	CETP	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.002367032	2009	CETP	16	56962299	G	A
rs987237	19336370	7021	TFAP2B	umls:C0013274	GAD	[Overall, our data support a role for genetic variations in transcription factor AP-2 beta, tumor necrosis factor receptor-associated factor 1, and prostacyclin synthase in the persistent patency of the ductus arteriosus seen in preterm infants.]	0.126720033	2009	TFAP2B	6	50835337	A	G

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0013274	digoxin	D004077	20830-75-5	ductus arteriosus, patent	MESH:D004374	therapeutic	6880719
C0013274	indomethacin	D007213	53-86-1	ductus arteriosus, patent	MESH:D004374	marker/mechanism	15232757
C0013274	indomethacin	D007213	53-86-1	ductus arteriosus, patent	MESH:D004374	therapeutic	10516392
C0013274	trimethadione	D014293	127-48-0	ductus arteriosus, patent	MESH:D004374	marker/mechanism	550945

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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