PedAM

Pediatric Disease Annotations & Medicines


	aortic valve insufficiency

Disease ID	464
Disease	aortic valve insufficiency
Definition	Pathological condition characterized by the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to regurgitation. It is caused by diseases of the AORTIC VALVE or its surrounding tissue (aortic root).
Synonym	ai - aortic incompetence aortic incompetence aortic insufficiency aortic regurgitation aortic regurgitation, nos aortic valve incompetence aortic valve incompetence, nos aortic valve insufficiency [disease/finding] aortic valve insufficiency, nos aortic valve regurgitation aortic valve regurgitation (disorder) aortic valve regurgitation, nos aortic valve, incompetence aortic valve, insufficiency aortic valve, regurgitation ar ar - aortic regurgitation incompetence, aortic incompetence, aortic valve insufficiency, aortic valve regurgitation, aortic regurgitation, aortic valve
OMIM	OMIM:313700
DOID	DOID:57
UMLS	C0003504
MeSH	D001022
SNOMED-CT	SNOMEDCT_US_2016_09_01:60234000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:51) C0003486 \| aortic aneurysm \| 15 C0003507 \| aortic stenosis \| 10 C0018801 \| heart failure \| 9 C0020538 \| hypertension \| 6 C0014118 \| endocarditis \| 6 C0020538 \| systemic hypertension \| 4 C0004943 \| behcet's disease \| 4 C0018818 \| ventricular septal defect \| 4 C0035439 \| rheumatic heart disease \| 3 C0003509 \| aortitis \| 3 C0018799 \| heart disease \| 3 C0014121 \| infective endocarditis \| 2 C0026266 \| mitral regurgitation \| 2 C0024141 \| systemic lupus erythematosus \| 2 C0039263 \| takayasu's arteritis \| 2 C0020443 \| hypercholesterolemia \| 2 C0409974 \| lupus erythematosus \| 2 C0040961 \| tricuspid regurgitation \| 2 C0002871 \| anemia \| 1 C0153500 \| heart ca \| 1 C0040053 \| thrombus \| 1 C0020445 \| familial hypercholesterolemia \| 1 C0022116 \| ischemia \| 1 C0027051 \| myocardial infarction \| 1 C0039263 \| takayasu disease \| 1 C0152101 \| hypoplastic left heart syndrome \| 1 C0034063 \| pulmonary edema \| 1 C0152101 \| hypoplastic left heart \| 1 C0002878 \| hemolytic anemia \| 1 C0018802 \| congestive heart failure \| 1 C0039263 \| takayasu arteritis \| 1 C0042373 \| vascular disease \| 1 C0085435 \| reactive arthritis \| 1 C0020542 \| pulmonary hypertension \| 1 C0010051 \| coronary aneurysm \| 1 C0027051 \| myocardial infarct \| 1 C0012628 \| discrete subaortic stenosis \| 1 C0162872 \| thoracic aortic aneurysm \| 1 C0029434 \| osteogenesis imperfecta \| 1 C0155733 \| aortic atherosclerosis \| 1 C0003486 \| aortic aneurysms \| 1 C0003511 \| syphilitic aortitis \| 1 C0020443 \| hypercholesterolaemia \| 1 C0026267 \| mitral valve prolapse \| 1 C0031036 \| polyarteritis nodosa \| 1 C0018801 \| cardiac failure \| 1 C0004153 \| atherosclerosis \| 1 C0007222 \| cardiovascular disease \| 1 C0018802 \| congestive cardiac failure \| 1 C0003505 \| aortic valve prolapse \| 1 C0010051 \| coronary aneurysms \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) TGFB1 \| 7040 \| CTD_human COL1A1 \| 1277 \| CTD_human COL3A1 \| 1281 \| CTD_human NPPB \| 4879 \| CTD_human TGFB2 \| 7042 \| CTD_human TIMP1 \| 7076 \| CTD_human CTGF \| 1490 \| CTD_human AR \| 367 \| OMIM LOX \| 4015 \| CTD_human NPPA \| 4878 \| CTD_human FN1 \| 2335 \| CTD_human FSTL1 \| 11167 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:158) 84245 \| MRI1 \| DISEASES 350 \| APOH \| DISEASES 8086 \| AAAS \| DISEASES 10278 \| EFS \| DISEASES 4313 \| MMP2 \| DISEASES 2137 \| EXTL3 \| DISEASES 1749 \| DLX5 \| DISEASES 5118 \| PCOLCE \| DISEASES 59 \| ACTA2 \| DISEASES 26574 \| AATF \| DISEASES 6783 \| SULT1E1 \| DISEASES 3111 \| HLA-DOA \| DISEASES 9896 \| FIG4 \| DISEASES 56920 \| SEMA3G \| DISEASES 4759 \| NEU2 \| DISEASES 5657 \| PRTN3 \| DISEASES 7291 \| TWIST1 \| DISEASES 1959 \| EGR2 \| DISEASES 6431 \| SRSF6 \| DISEASES 2657 \| GDF1 \| DISEASES 22879 \| MON1B \| DISEASES 2006 \| ELN \| DISEASES 140628 \| GATA5 \| DISEASES 10343 \| PKDREJ \| DISEASES 5989 \| RFX1 \| DISEASES 1401 \| CRP \| DISEASES 10955 \| SERINC3 \| DISEASES 187 \| APLNR \| DISEASES 3357 \| HTR2B \| DISEASES 255488 \| RNF144B \| DISEASES 10017 \| BCL2L10 \| DISEASES 7450 \| VWF \| DISEASES 9480 \| ONECUT2 \| DISEASES 1770 \| DNAH9 \| DISEASES 27130 \| INVS \| DISEASES 2201 \| FBN2 \| DISEASES 10558 \| SPTLC1 \| DISEASES 25939 \| SAMHD1 \| DISEASES 22858 \| ICK \| DISEASES 90 \| ACVR1 \| DISEASES 1615 \| DARS \| DISEASES 2028 \| ENPEP \| DISEASES 6717 \| SRI \| DISEASES 5286 \| PIK3C2A \| DISEASES 54509 \| RHOF \| DISEASES 1009 \| CDH11 \| DISEASES 2588 \| GALNS \| DISEASES 5972 \| REN \| DISEASES 10699 \| CORIN \| DISEASES 5921 \| RASA1 \| DISEASES 167410 \| LIX1 \| DISEASES 319100 \| TAAR6 \| DISEASES 4851 \| NOTCH1 \| DISEASES 1489 \| CTF1 \| DISEASES 23657 \| SLC7A11 \| DISEASES 60558 \| GUF1 \| DISEASES 26353 \| HSPB8 \| DISEASES 760 \| CA2 \| DISEASES 7547 \| ZIC3 \| DISEASES 701 \| BUB1B \| DISEASES 6529 \| SLC6A1 \| DISEASES 7079 \| TIMP4 \| DISEASES 909 \| CD1A \| DISEASES 1636 \| ACE \| DISEASES 10898 \| CPSF4 \| DISEASES 10158 \| PDZK1IP1 \| DISEASES 4880 \| NPPC \| DISEASES 213 \| ALB \| DISEASES 54859 \| ELP6 \| DISEASES 5648 \| MASP1 \| DISEASES 84315 \| MON1A \| DISEASES 6901 \| TAZ \| DISEASES 56246 \| MRAP \| DISEASES 171389 \| NLRP6 \| DISEASES 6910 \| TBX5 \| DISEASES 30008 \| EFEMP2 \| DISEASES 23209 \| MLC1 \| DISEASES 11238 \| CA5B \| DISEASES 137814 \| NKX2-6 \| DISEASES 7182 \| NR2C2 \| DISEASES 78987 \| CRELD1 \| DISEASES 55511 \| SAGE1 \| DISEASES 7706 \| TRIM25 \| DISEASES 2200 \| FBN1 \| DISEASES 2192 \| FBLN1 \| DISEASES 9939 \| RBM8A \| DISEASES 55256 \| ADI1 \| DISEASES 9547 \| CXCL14 \| DISEASES 554 \| AVPR2 \| DISEASES 23583 \| SMUG1 \| DISEASES 5329 \| PLAUR \| DISEASES 117178 \| SSX2IP \| DISEASES 4882 \| NPR2 \| DISEASES 7137 \| TNNI3 \| DISEASES 259307 \| IL4I1 \| DISEASES 10516 \| FBLN5 \| DISEASES 6227 \| RPS21 \| DISEASES 3240 \| HP \| DISEASES 140885 \| SIRPA \| DISEASES 6714 \| SRC \| DISEASES 404552 \| SCGB1D4 \| DISEASES 6942 \| TCF20 \| DISEASES 9851 \| KIAA0753 \| DISEASES 57611 \| ISLR2 \| DISEASES 183 \| AGT \| DISEASES 83881 \| MIXL1 \| DISEASES 6993 \| DYNLT1 \| DISEASES 2316 \| FLNA \| DISEASES 5309 \| PITX3 \| DISEASES 3725 \| JUN \| DISEASES 186 \| AGTR2 \| DISEASES 5900 \| RALGDS \| DISEASES 1025 \| CDK9 \| DISEASES 84890 \| ADO \| DISEASES 4303 \| FOXO4 \| DISEASES 10919 \| EHMT2 \| DISEASES 2155 \| F7 \| DISEASES 3055 \| HCK \| DISEASES 7917 \| BAG6 \| DISEASES 4879 \| NPPB \| DISEASES 4878 \| NPPA \| DISEASES 57449 \| PLEKHG5 \| DISEASES 10159 \| ATP6AP2 \| DISEASES 650 \| BMP2 \| DISEASES 25820 \| ARIH1 \| DISEASES 8544 \| PIR \| DISEASES 9350 \| CER1 \| DISEASES 415 \| ARSE \| DISEASES 390874 \| ONECUT3 \| DISEASES 26524 \| LATS2 \| DISEASES 5799 \| PTPRN2 \| DISEASES 2524 \| FUT2 \| DISEASES 80196 \| RNF34 \| DISEASES 78996 \| C7orf49 \| DISEASES 145270 \| PRIMA1 \| DISEASES 64400 \| AKTIP \| DISEASES 27297 \| CRCP \| DISEASES 54704 \| PDP1 \| DISEASES 344022 \| NOTO \| DISEASES 54826 \| GIN1 \| DISEASES 10747 \| MASP2 \| DISEASES 91319 \| DERL3 \| DISEASES 3112 \| HLA-DOB \| DISEASES 5538 \| PPT1 \| DISEASES 154881 \| KCTD7 \| DISEASES 3106 \| HLA-B \| DISEASES 9278 \| ZBTB22 \| DISEASES 54900 \| LAX1 \| DISEASES 10969 \| EBNA1BP2 \| DISEASES 10015 \| PDCD6IP \| DISEASES 133396 \| IL31RA \| DISEASES 1316 \| KLF6 \| DISEASES 10189 \| ALYREF \| DISEASES 51366 \| UBR5 \| DISEASES 388588 \| SMIM1 \| DISEASES 7409 \| VAV1 \| DISEASES 102723508 \| KANTR \| DISEASES 440900 \| LINC01191 \| DISEASES
Locus	(Waiting for update.)

Disease ID	464
Disease	aortic valve insufficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:50) HP:0002617 \| Aneurysmal dilatation \| 31 HP:0004942 \| Aortic aneurysm \| 15 HP:0001650 \| Valvular aortic stenosis \| 11 HP:0001647 \| Bicuspid aortic valve \| 10 HP:0001635 \| Congestive heart failure \| 10 HP:0002631 \| Ascending aortic aneurysm \| 9 HP:0002616 \| Aortic root dilatation \| 8 HP:0000822 \| Hypertension \| 7 HP:0011645 \| Aneurysm of the aortic sinus \| 7 HP:0100584 \| Endocarditis \| 6 HP:0001629 \| Ventricular septal defects \| 4 HP:0002647 \| Aortic dissection \| 4 HP:0001714 \| Ventricular hypertrophy \| 4 HP:0001712 \| Left ventricular hypertrophy \| 4 HP:0012089 \| Arteritis \| 3 HP:0006689 \| Bacterial endocarditis \| 3 HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0001653 \| Mitral valve insufficiency \| 2 HP:0003124 \| Elevated serum cholesterol \| 2 HP:0001724 \| Aortic dilatation \| 2 HP:0001260 \| Dysarthric speech \| 2 HP:0005180 \| Tricuspid insufficiency \| 2 HP:0005111 \| Dilation of the ascending aorta \| 2 HP:0000969 \| Dropsy \| 2 HP:0100598 \| Pulmonary oedema \| 1 HP:0004947 \| Arteriovenous fistula \| 1 HP:0001903 \| Anemia \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0004380 \| Aortic valve calcification \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0012397 \| Atherosclerotic changes of aorta \| 1 HP:0001634 \| Mitral valve prolapse \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0012418 \| Low blood oxygen level \| 1 HP:0012382 \| Left-to-right shunt \| 1 HP:0012727 \| Thoracic aortic aneurysm \| 1 HP:0002094 \| Dyspnea \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0001682 \| Subvalvular aortic stenosis \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0001669 \| Transposition of the great arteries \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0012561 \| Unicuspid aortic valve \| 1 HP:0006698 \| Ventricular aneurysm \| 1 HP:0001662 \| Bradycardia \| 1 HP:0012764 \| Orthopnea \| 1 HP:0004383 \| Underdeveloped left heart \| 1 HP:0030149 \| Cardiovascular shock \| 1

Disease ID	464
Disease	aortic valve insufficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C0920035 \| left ventricular overload C0027051 \| myocardial infarct C0018818 \| ventricular septal defects C0003510 \| aortitis syndrome C0003509 \| aortitis C0003486 \| aortic aneurysms C0002940 \| aneurysm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:14) C0002940 \| aneurysm \| 21 C0018801 \| heart failure \| 8 C0003486 \| aortic aneurysm \| 7 C0018818 \| ventricular septal defect \| 4 C0856747 \| ascending aortic aneurysm \| 4 C0232262 \| diastolic murmur \| 4 C0340643 \| aortic dissection \| 3 C0020542 \| pulmonary hypertension \| 1 C0013404 \| dyspnea \| 1 C0018801 \| cardiac failure \| 1 C0020538 \| hypertension \| 1 C0018802 \| congestive heart failure \| 1 C0003486 \| aortic aneurysms \| 1 C0519097 \| left ventricular aneurysm \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:6)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0003504	cabergoline	C047047	81409-90-7	aortic valve insufficiency	MESH:D001022	marker/mechanism	17202454
C0003504	cyproheptadine	D003533	129-03-3	aortic valve insufficiency	MESH:D001022	therapeutic	19346455
C0003504	fenfluramine	D005277	458-24-2	aortic valve insufficiency	MESH:D001022	marker/mechanism	10440587
C0003504	mazindol	D008454	22232-71-9	aortic valve insufficiency	MESH:D001022	marker/mechanism	10440587
C0003504	methysergide	D008784	361-37-5	aortic valve insufficiency	MESH:D001022	marker/mechanism	12848667
C0003504	phentermine	D010645	122-09-8	aortic valve insufficiency	MESH:D001022	marker/mechanism	10440587

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