PedAM

Pediatric Disease Annotations & Medicines


	mitral valve insufficiency

Disease ID	1265
Disease	mitral valve insufficiency
Definition	Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation.
Synonym	incompetence, mitral incompetence, mitral valve insufficiency, mitral insufficiency, mitral valve mi - mitral incompetence mitral incompetence mitral insufficiency mitral regurgitation mitral regurgitation (mr) mitral regurgitation, nos mitral regurgitations mitral valve incompetence mitral valve incompetence, nos mitral valve insufficiency [disease/finding] mitral valve insufficiency, nos mitral valve regurgitation mitral valve regurgitation (disorder) mitral valve regurgitation, nos mitral valve, incompetency mr - mitral regurgitation regurgitation, mitral regurgitation, mitral valve valve incompetence, mitral valve insufficiency, mitral valve regurgitation, mitral
DOID	DOID:11502
UMLS	C0026266
MeSH	D008944
SNOMED-CT	SNOMEDCT_US_2016_09_01:48724000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:66) C0018801 \| heart failure \| 33 C0026267 \| mitral valve prolapse \| 23 C0878544 \| cardiomyopathy \| 22 C0007193 \| dilated cardiomyopathy \| 15 C0018799 \| heart disease \| 11 C0003507 \| aortic stenosis \| 11 C0027051 \| myocardial infarction \| 8 C0027051 \| myocardial infarct \| 8 C0020542 \| pulmonary hypertension \| 5 C0264793 \| idiopathic dilated cardiomyopathy \| 4 C0035439 \| rheumatic heart disease \| 4 C0018802 \| congestive heart failure \| 4 C0010068 \| coronary artery disease \| 4 C0018818 \| ventricular septal defect \| 4 C0007194 \| hypertrophic obstructive cardiomyopathy \| 3 C0026269 \| mitral stenosis \| 3 C0040961 \| tricuspid regurgitation \| 3 C0007194 \| obstructive cardiomyopathy \| 3 C0034063 \| pulmonary edema \| 3 C0034063 \| pulmonary oedema \| 3 C0003507 \| aortic valve stenosis \| 3 C1960469 \| left ventricular noncompaction \| 3 C0155626 \| acute myocardial infarction \| 3 C0031039 \| pericardial effusion \| 3 C0020538 \| hypertension \| 3 C0018799 \| cardiac disease \| 2 C0022116 \| ischemia \| 2 C0014118 \| endocarditis \| 2 C0024796 \| marfan syndrome \| 2 C0018824 \| valvular heart disease \| 2 C0010068 \| coronary heart disease \| 2 C0004943 \| behcet's disease \| 2 C0018799 \| cardiac diseases \| 2 C0003504 \| aortic regurgitation \| 2 C0264716 \| chronic heart failure \| 2 C0007194 \| hypertrophic cardiomyopathy \| 1 C0002871 \| anemia \| 1 C0002878 \| hemolytic anemia \| 1 C0014117 \| endocardial fibroelastosis \| 1 C0003507 \| valvular aortic stenosis \| 1 C0014121 \| infective endocarditis \| 1 C0040053 \| thrombosis \| 1 C0017551 \| gilbert's syndrome \| 1 C0018818 \| interventricular septal defect \| 1 C0036202 \| sarcoidosis \| 1 C0024299 \| lymphoma \| 1 C0040028 \| essential thrombocythemia \| 1 C1135191 \| systolic heart failure \| 1 C0036529 \| cardiomyopathy secondary \| 1 C0001206 \| acromegaly \| 1 C0392077 \| cardiac sarcoidosis \| 1 C0026706 \| sanfilippo syndrome \| 1 C0026265 \| mitral valve disease \| 1 C1260873 \| aortic valve disease \| 1 C0006666 \| calciphylaxis \| 1 C0018799 \| heart diseases \| 1 C0151744 \| myocardial ischemia \| 1 C0520679 \| obstructive sleep apnea \| 1 C0018824 \| valvular heart diseases \| 1 C0836924 \| thrombocythemia \| 1 C0079731 \| b cell lymphoma \| 1 C0040961 \| tricuspid valve regurgitation \| 1 C0022658 \| renal disease \| 1 C0026709 \| mps vi \| 1 C0022661 \| end-stage renal disease \| 1 C0014121 \| bacterial endocarditis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) LMCD1 \| 29995 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:232) 1634 \| DCN \| DISEASES 29995 \| LMCD1 \| DISEASES 2734 \| GLG1 \| DISEASES 7414 \| VCL \| DISEASES 5372 \| PMM1 \| DISEASES 10278 \| EFS \| DISEASES 4313 \| MMP2 \| DISEASES 2137 \| EXTL3 \| DISEASES 5327 \| PLAT \| DISEASES 27294 \| DHDH \| DISEASES 1891 \| ECH1 \| DISEASES 5296 \| PIK3R2 \| DISEASES 5193 \| PEX12 \| DISEASES 4669 \| NAGLU \| DISEASES 6783 \| SULT1E1 \| DISEASES 2784 \| GNB3 \| DISEASES 56920 \| SEMA3G \| DISEASES 1962 \| EHHADH \| DISEASES 9173 \| IL1RL1 \| DISEASES 5534 \| PPP3R1 \| DISEASES 5657 \| PRTN3 \| DISEASES 103910 \| MYL12B \| DISEASES 7291 \| TWIST1 \| DISEASES 540 \| ATP7B \| DISEASES 27189 \| IL17C \| DISEASES 583 \| BBS2 \| DISEASES 55154 \| MSTO1 \| DISEASES 2657 \| GDF1 \| DISEASES 22879 \| MON1B \| DISEASES 1215 \| CMA1 \| DISEASES 2006 \| ELN \| DISEASES 376497 \| SLC27A1 \| DISEASES 10343 \| PKDREJ \| DISEASES 3958 \| LGALS3 \| DISEASES 5989 \| RFX1 \| DISEASES 6737 \| TRIM21 \| DISEASES 1401 \| CRP \| DISEASES 10955 \| SERINC3 \| DISEASES 8536 \| CAMK1 \| DISEASES 269 \| AMHR2 \| DISEASES 10220 \| GDF11 \| DISEASES 10913 \| EDAR \| DISEASES 4836 \| NMT1 \| DISEASES 255488 \| RNF144B \| DISEASES 51196 \| PLCE1 \| DISEASES 6741 \| SSB \| DISEASES 7450 \| VWF \| DISEASES 29954 \| POMT2 \| DISEASES 6604 \| SMARCD3 \| DISEASES 23417 \| MLYCD \| DISEASES 28965 \| SLC27A6 \| DISEASES 7077 \| TIMP2 \| DISEASES 25939 \| SAMHD1 \| DISEASES 22858 \| ICK \| DISEASES 6403 \| SELP \| DISEASES 1386 \| ATF2 \| DISEASES 2121 \| EVC \| DISEASES 6717 \| SRI \| DISEASES 55749 \| CCAR1 \| DISEASES 5286 \| PIK3C2A \| DISEASES 55117 \| SLC6A15 \| DISEASES 51411 \| BIN2 \| DISEASES 3073 \| HEXA \| DISEASES 2702 \| GJA5 \| DISEASES 5972 \| REN \| DISEASES 166378 \| SPATA5 \| DISEASES 4715 \| NDUFB9 \| DISEASES 4851 \| NOTCH1 \| DISEASES 133 \| ADM \| DISEASES 1489 \| CTF1 \| DISEASES 5805 \| PTS \| DISEASES 498 \| ATP5A1 \| DISEASES 2697 \| GJA1 \| DISEASES 1360 \| CPB1 \| DISEASES 10225 \| CD96 \| DISEASES 10449 \| ACAA2 \| DISEASES 760 \| CA2 \| DISEASES 27163 \| NAAA \| DISEASES 4838 \| NODAL \| DISEASES 7547 \| ZIC3 \| DISEASES 701 \| BUB1B \| DISEASES 909 \| CD1A \| DISEASES 54069 \| MIS18A \| DISEASES 1636 \| ACE \| DISEASES 5152 \| PDE9A \| DISEASES 89858 \| SIGLEC12 \| DISEASES 160622 \| GRASP \| DISEASES 10158 \| PDZK1IP1 \| DISEASES 51072 \| MEMO1 \| DISEASES 79885 \| HDAC11 \| DISEASES 213 \| ALB \| DISEASES 5473 \| PPBP \| DISEASES 5196 \| PF4 \| DISEASES 84315 \| MON1A \| DISEASES 4846 \| NOS3 \| DISEASES 120114 \| FAT3 \| DISEASES 6901 \| TAZ \| DISEASES 8642 \| DCHS1 \| DISEASES 4837 \| NNMT \| DISEASES 6447 \| SCG5 \| DISEASES 4597 \| MVD \| DISEASES 1549 \| CYP2A7 \| DISEASES 116285 \| ACSM1 \| DISEASES 140838 \| NANP \| DISEASES 2990 \| GUSB \| DISEASES 136647 \| MPLKIP \| DISEASES 6588 \| SLN \| DISEASES 1841 \| DTYMK \| DISEASES 54538 \| ROBO4 \| DISEASES 2244 \| FGB \| DISEASES 23627 \| PRND \| DISEASES 5707 \| PSMD1 \| DISEASES 27165 \| GLS2 \| DISEASES 1375 \| CPT1B \| DISEASES 11238 \| CA5B \| DISEASES 2744 \| GLS \| DISEASES 9377 \| COX5A \| DISEASES 9702 \| CEP57 \| DISEASES 28959 \| TMEM176B \| DISEASES 23621 \| BACE1 \| DISEASES 126129 \| CPT1C \| DISEASES 137814 \| NKX2-6 \| DISEASES 78987 \| CRELD1 \| DISEASES 6181 \| RPLP2 \| DISEASES 81618 \| ITM2C \| DISEASES 4312 \| MMP1 \| DISEASES 55511 \| SAGE1 \| DISEASES 7706 \| TRIM25 \| DISEASES 29895 \| MYLPF \| DISEASES 2200 \| FBN1 \| DISEASES 55763 \| EXOC1 \| DISEASES 3052 \| HCCS \| DISEASES 5034 \| P4HB \| DISEASES 147719 \| LYPD4 \| DISEASES 1946 \| EFNA5 \| DISEASES 2192 \| FBLN1 \| DISEASES 29940 \| DSE \| DISEASES 1553 \| CYP2A13 \| DISEASES 9939 \| RBM8A \| DISEASES 64359 \| NXN \| DISEASES 63826 \| SRR \| DISEASES 117178 \| SSX2IP \| DISEASES 4137 \| MAPT \| DISEASES 7137 \| TNNI3 \| DISEASES 6187 \| RPS2 \| DISEASES 259307 \| IL4I1 \| DISEASES 5549 \| PRELP \| DISEASES 5757 \| PTMA \| DISEASES 1842 \| ECM2 \| DISEASES 6176 \| RPLP1 \| DISEASES 79971 \| WLS \| DISEASES 2331 \| FMOD \| DISEASES 26503 \| SLC17A5 \| DISEASES 3240 \| HP \| DISEASES 83658 \| DYNLRB1 \| DISEASES 7048 \| TGFBR2 \| DISEASES 6942 \| TCF20 \| DISEASES 10367 \| MICU1 \| DISEASES 9374 \| PPT2 \| DISEASES 23139 \| MAST2 \| DISEASES 10223 \| GPA33 \| DISEASES 2117 \| ETV3 \| DISEASES 23493 \| HEY2 \| DISEASES 153 \| ADRB1 \| DISEASES 3158 \| HMGCS2 \| DISEASES 26227 \| PHGDH \| DISEASES 2316 \| FLNA \| DISEASES 541466 \| CT45A1 \| DISEASES 9124 \| PDLIM1 \| DISEASES 55624 \| POMGNT1 \| DISEASES 6130 \| RPL7A \| DISEASES 10585 \| POMT1 \| DISEASES 9670 \| IPO13 \| DISEASES 64102 \| TNMD \| DISEASES 80312 \| TET1 \| DISEASES 84890 \| ADO \| DISEASES 4303 \| FOXO4 \| DISEASES 8518 \| IKBKAP \| DISEASES 6015 \| RING1 \| DISEASES 3055 \| HCK \| DISEASES 4879 \| NPPB \| DISEASES 4878 \| NPPA \| DISEASES 116511 \| MAS1L \| DISEASES 2098 \| ESD \| DISEASES 57118 \| CAMK1D \| DISEASES 1906 \| EDN1 \| DISEASES 1993 \| ELAVL2 \| DISEASES 1280 \| COL2A1 \| DISEASES 56897 \| WRNIP1 \| DISEASES 415 \| ARSE \| DISEASES 124220 \| ZG16B \| DISEASES 8618 \| CADPS \| DISEASES 2524 \| FUT2 \| DISEASES 51466 \| EVL \| DISEASES 27032 \| ATP2C1 \| DISEASES 347734 \| SLC35B2 \| DISEASES 5532 \| PPP3CB \| DISEASES 6046 \| BRD2 \| DISEASES 344022 \| NOTO \| DISEASES 7110 \| TMF1 \| DISEASES 54826 \| GIN1 \| DISEASES 23414 \| ZFPM2 \| DISEASES 25780 \| RASGRP3 \| DISEASES 91319 \| DERL3 \| DISEASES 79903 \| NAA60 \| DISEASES 3112 \| HLA-DOB \| DISEASES 8671 \| SLC4A4 \| DISEASES 7124 \| TNF \| DISEASES 5817 \| PVR \| DISEASES 862 \| RUNX1T1 \| DISEASES 6892 \| TAPBP \| DISEASES 117581 \| TWIST2 \| DISEASES 9498 \| SLC4A8 \| DISEASES 91833 \| WDR20 \| DISEASES 2195 \| FAT1 \| DISEASES 54900 \| LAX1 \| DISEASES 34 \| ACADM \| DISEASES 8125 \| ANP32A \| DISEASES 114803 \| MYSM1 \| DISEASES 2110 \| ETFDH \| DISEASES 51366 \| UBR5 \| DISEASES 23741 \| EID1 \| DISEASES 488 \| ATP2A2 \| DISEASES 84525 \| HOPX \| DISEASES 567 \| B2M \| DISEASES 27229 \| TUBGCP4 \| DISEASES 388588 \| SMIM1 \| DISEASES 100302740 \| FAS-AS1 \| DISEASES 102723508 \| KANTR \| DISEASES 103752588 \| PACERR \| DISEASES 118425 \| PCAT4 \| DISEASES 692199 \| SNORD84 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1265
Disease	mitral valve insufficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:60) HP:0001635 \| Congestive heart failure \| 37 HP:0001634 \| Mitral valve prolapse \| 24 HP:0001638 \| Cardiomyopathy \| 23 HP:0001644 \| Congestive cardiomyopathy \| 16 HP:0001650 \| Valvular aortic stenosis \| 14 HP:0001658 \| Myocardial infarction \| 7 HP:0100598 \| Pulmonary oedema \| 6 HP:0002617 \| Aneurysmal dilatation \| 6 HP:0002092 \| Pulmonary artery hypertension \| 5 HP:0005110 \| Atrial fibrillation \| 5 HP:0001698 \| Pericardial effusions \| 4 HP:0001297 \| Cerebral vascular events \| 4 HP:0000969 \| Dropsy \| 4 HP:0001629 \| Ventricular septal defects \| 4 HP:0001677 \| Coronary artery disease \| 3 HP:0005180 \| Tricuspid insufficiency \| 3 HP:0001718 \| Mitral stenosis \| 3 HP:0001659 \| Aortic insufficiency \| 3 HP:0030682 \| Left ventricular noncompaction \| 3 HP:0000822 \| Hypertension \| 3 HP:0006698 \| Ventricular aneurysm \| 3 HP:0011665 \| Takotsubo cardiomyopathy \| 2 HP:0030148 \| Heart murmur \| 2 HP:0011664 \| Left ventricular non-compaction cardiomyopathy \| 2 HP:0011571 \| Parachute mitral valve \| 2 HP:0002119 \| Ventricular dilatation \| 2 HP:0002094 \| Dyspnea \| 2 HP:0100584 \| Endocarditis \| 2 HP:0012817 \| Noncompaction of the ventricular myocardium \| 2 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0012378 \| Fatigue \| 1 HP:0001712 \| Left ventricular hypertrophy \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0001682 \| Subvalvular aortic stenosis \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0012722 \| Heart block \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0001651 \| Thoracic situs inversus \| 1 HP:0011995 \| Atrial septal aneurysm \| 1 HP:0001639 \| Hypertrophic cardiomyopathy \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0011564 \| Mitral valve arcade \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0001903 \| Anemia \| 1 HP:0011720 \| Type 2 total anomalous pulmonary venous connection \| 1 HP:0030149 \| Cardiovascular shock \| 1 HP:0002665 \| Lymphoma \| 1 HP:0000845 \| Acromegalic growth \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0012191 \| B-cell lymphoma \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0006695 \| Atrioventricular septal defect, partial \| 1 HP:0005160 \| Total anomalous pulmonary venous return \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0011719 \| Type 1 total anomalous pulmonary venous connection \| 1 HP:0001706 \| Endocardial fibroelastosis \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0001649 \| Tachycardia \| 1

Disease ID	1265
Disease	mitral valve insufficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:21) C0018801 \| heart failure \| 36 C0026267 \| mitral valve prolapse \| 22 C0002940 \| aneurysm \| 4 C0020542 \| pulmonary hypertension \| 4 C0034063 \| pulmonary oedema \| 3 C0018818 \| ventricular septal defect \| 3 C0034063 \| pulmonary edema \| 3 C0003504 \| aortic regurgitation \| 3 C0009814 \| stenosis \| 2 C2062865 \| ventricular pseudoaneurysm \| 2 C0007194 \| hypertrophic obstructive cardiomyopathy \| 2 C0232258 \| pansystolic murmur \| 2 C0018802 \| congestive heart failure \| 2 C0694539 \| chronic atrial fibrillation \| 1 C0232258 \| holosystolic murmur \| 1 C0001206 \| acromegaly \| 1 C0264734 \| atrial dilatation \| 1 C0519097 \| left ventricular aneurysm \| 1 C0232605 \| regurgitation \| 1 C0264719 \| acute congestive heart failure \| 1 C0018817 \| atrial septal defect \| 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:12)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0026266	cabergoline	C047047	81409-90-7	mitral valve insufficiency	MESH:D008944	marker/mechanism	16267335
C0026266	cyclophosphamide	D003520	50-18-0	mitral valve insufficiency	MESH:D008944	marker/mechanism	17562616
C0026266	digoxin	D004077	20830-75-5	mitral valve insufficiency	MESH:D008944	therapeutic	5440585
C0026266	enalapril	D004656	75847-73-3	mitral valve insufficiency	MESH:D008944	therapeutic	9838955
C0026266	fenfluramine	D005277	458-24-2	mitral valve insufficiency	MESH:D008944	marker/mechanism	10320298
C0026266	mazindol	D008454	22232-71-9	mitral valve insufficiency	MESH:D008944	marker/mechanism	10440587
C0026266	melphalan	D008558	148-82-3	mitral valve insufficiency	MESH:D008944	marker/mechanism	18548196
C0026266	methysergide	D008784	361-37-5	mitral valve insufficiency	MESH:D008944	marker/mechanism	12848667
C0026266	nitroprusside	D009599	15078-28-1	mitral valve insufficiency	MESH:D008944	therapeutic	3776843
C0026266	pentobarbital	D010424	76-74-4	mitral valve insufficiency	MESH:D008944	marker/mechanism	18455290
C0026266	phentermine	D010645	122-09-8	mitral valve insufficiency	MESH:D008944	marker/mechanism	10320298
C0026266	prazosin	D011224	19216-56-9	mitral valve insufficiency	MESH:D008944	therapeutic	7378216

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