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	mitral valve prolapse syndrome

Disease ID	260
Disease	mitral valve prolapse syndrome
Definition	Abnormal protrusion or billowing of one or both of the leaflets of MITRAL VALVE into the LEFT ATRIUM during SYSTOLE. This allows the backflow of blood into left atrium leading to MITRAL VALVE INSUFFICIENCY; SYSTOLIC MURMURS; or CARDIAC ARRHYTHMIA.
Synonym	asynchronous valve closure syndrome barlow syndrome barlow's syndrome click murmur syndrome click syndrome click-murmur syndrome click-murmur syndrome, mitral click-murmur syndrome, systolic click-murmur syndromes floppy mitral valve floppy mitral valves floppy valve syndrome heart, soldier j.b. barlow syndrome j.b. barlow's syndrome j.b. barlow's syndrome (disorder) mitral click murmur syndrome mitral click-murmur syndrome mitral regurgitation due to cusp prolapse mitral regurgitation, familial mitral valve posterior leaflet prolapse mitral valve prolapse mitral valve prolapse (disorder) mitral valve prolapse (mvp) mitral valve prolapse 1 mitral valve prolapse [disease/finding] mitral valve prolapse, familial mitral valve prolapse, posterior leaflet mitral valve prolapses mitral valve, floppy mitral valve, prolapsed mitral valves, floppy mitral valves, prolapsed mvp mvp - mitral valve prolapse mvp prolapsed mitral valve mvp1 myxomatous valvular disease, familial pmv prolapse, mitral valve prolapsed mitral valve prolapsed mitral valves prolapses, mitral valve syndrome, click-murmur syndrome, mitral click-murmur syndrome, systolic click-murmur syndromes, click-murmur systolic click murmur syndrome systolic click-murmur syndrome systolic murmur-click syndrome valve prolapse, mitral valve prolapses, mitral valve, prolapse of mitral valve, prolapsed mitral valves, prolapsed mitral
OMIM	OMIM:604715 OMIM:157700 OMIM:605088
DOID	DOID:0050533 DOID:988
UMLS	C0026267
MeSH	D008945
SNOMED-CT	SNOMEDCT_US_2016_09_01:8074002;SNOMEDCT_US_2016_09_01:409712001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0026266 \| mitral regurgitation \| 20 C0014118 \| endocarditis \| 6 C0014121 \| infective endocarditis \| 4 C0026266 \| mitral valve regurgitation \| 3 C0024796 \| marfan syndrome \| 2 C0014121 \| bacterial endocarditis \| 1 C0014122 \| subacute bacterial endocarditis \| 1 C0016053 \| fibromyalgia syndrome \| 1 C0022735 \| klinefelter syndrome \| 1 C0175702 \| williams syndrome \| 1 C0004943 \| behcet's disease \| 1 C1960469 \| left ventricular noncompaction \| 1 C0022104 \| irritable bowel syndrome \| 1 C0022578 \| keratoconus \| 1 C0016053 \| fibromyalgia \| 1 C0026266 \| mitral insufficiency \| 1 C0022104 \| irritable bowel \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 4054 \| LTBP3 \| CTD_human 50951 \| MMVP1 \| CTD_human;OMIM 6530 \| SLC6A2 \| CLINVAR 29995 \| LMCD1 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) 183 \| AGT \| CIPHER 1281 \| COL3A1 \| CIPHER 2200 \| FBN1 \| CIPHER 3339 \| HSPG2 \| CIPHER 5328 \| PLAU \| CIPHER 7253 \| TSHR \| CIPHER 50951 \| MMVP1 \| CTD_human 29995 \| LMCD1 \| CTD_human 4054 \| LTBP3 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:64) 101 \| ADAM8 \| 1.15 \| DISEASES 153 \| ADRB1 \| 1.059 \| DISEASES 183 \| AGT \| 1.773 \| DISEASES 1646 \| AKR1C2 \| 1.26 \| DISEASES 2909 \| ARHGAP35 \| 2.114 \| DISEASES 54829 \| ASPN \| 1.481 \| DISEASES 85316 \| BAGE5 \| 1.884 \| DISEASES 54880 \| BCOR \| 1.46 \| DISEASES 64115 \| C10orf54 \| 1.222 \| DISEASES 1103 \| CHAT \| 1.445 \| DISEASES 1301 \| COL11A1 \| 2.313 \| DISEASES 1280 \| COL2A1 \| 1.666 \| DISEASES 1290 \| COL5A2 \| 2.964 \| DISEASES 10488 \| CREB3 \| 2.536 \| DISEASES 78987 \| CRELD1 \| 2.094 \| DISEASES 57703 \| CWC22 \| 1.438 \| DISEASES 1553 \| CYP2A13 \| 1.913 \| DISEASES 1621 \| DBH \| 1.081 \| DISEASES 1733 \| DIO1 \| 2.279 \| DISEASES 1741 \| DLG3 \| 1.958 \| DISEASES 83658 \| DYNLRB1 \| 1.877 \| DISEASES 1842 \| ECM2 \| 3.877 \| DISEASES 11082 \| ESM1 \| 1.569 \| DISEASES 132884 \| EVC2 \| 1.607 \| DISEASES 2159 \| F10 \| 1.766 \| DISEASES 2157 \| F8 \| 1.648 \| DISEASES 2200 \| FBN1 \| 5.465 \| DISEASES 2316 \| FLNA \| 2.939 \| DISEASES 2331 \| FMOD \| 1.65 \| DISEASES 84525 \| HOPX \| 1.729 \| DISEASES 3664 \| IRF6 \| 1.596 \| DISEASES 102723508 \| KANTR \| 4.341 \| DISEASES 26524 \| LATS2 \| 1.373 \| DISEASES 54900 \| LAX1 \| 2.007 \| DISEASES 3980 \| LIG3 \| 1 \| DISEASES 100859921 \| LINC00536 \| 3.985 \| DISEASES 8972 \| MGAM \| 3.015 \| DISEASES 4763 \| NF1 \| 1.135 \| DISEASES 118425 \| PCAT4 \| 1.749 \| DISEASES 80380 \| PDCD1LG2 \| 1.043 \| DISEASES 9124 \| PDLIM1 \| 3.276 \| DISEASES 5314 \| PKHD1 \| 2.069 \| DISEASES 10654 \| PMVK \| 2.461 \| DISEASES 139728 \| PNCK \| 1.577 \| DISEASES 9374 \| PPT2 \| 1.912 \| DISEASES 5549 \| PRELP \| 2.253 \| DISEASES 5682 \| PSMA1 \| 2.478 \| DISEASES 83871 \| RAB34 \| 2.34 \| DISEASES 9939 \| RBM8A \| 1.058 \| DISEASES 5962 \| RDX \| 1.13 \| DISEASES 7955 \| RNF217-AS1 \| 1.72 \| DISEASES 6510 \| SLC1A5 \| 1.339 \| DISEASES 4088 \| SMAD3 \| 1.107 \| DISEASES 84897 \| TBRG1 \| 2.869 \| DISEASES 7042 \| TGFB2 \| 2.296 \| DISEASES 7046 \| TGFBR1 \| 2.501 \| DISEASES 7048 \| TGFBR2 \| 2.442 \| DISEASES 7068 \| THRB \| 1.962 \| DISEASES 64102 \| TNMD \| 2.403 \| DISEASES 7148 \| TNXB \| 2.684 \| DISEASES 7227 \| TRPS1 \| 1.815 \| DISEASES 51366 \| UBR5 \| 1.366 \| DISEASES 157680 \| VPS13B \| 3.308 \| DISEASES 56897 \| WRNIP1 \| 3.764 \| DISEASES
Locus	(Waiting for update.)

Disease ID	260
Disease	mitral valve prolapse syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0001653 \| Mitral valve insufficiency \| 27 HP:0100584 \| Endocarditis \| 6 HP:0011675 \| Arrhythmias \| 6 HP:0006689 \| Bacterial endocarditis \| 5 HP:0004308 \| Ventricular arrhythmia \| 4 HP:0004756 \| Ventricular tachycardia \| 2 HP:0001649 \| Tachycardia \| 2 HP:0002615 \| Low blood pressure \| 1 HP:0001712 \| Left ventricular hypertrophy \| 1 HP:0004755 \| Supraventricular tachycardia \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0100845 \| Anaphylactic shock \| 1 HP:0004971 \| Pulmonary artery hypoplasia \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0000969 \| Dropsy \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0004411 \| Crooked septum of nose \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0000563 \| Conical cornea \| 1 HP:0012531 \| Pain \| 1

Disease ID	260
Disease	mitral valve prolapse syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2108112 \| ventricular fibrillation C0235480 \| paroxysmal atrial fibrillation C0232263 \| early diastolic murmur C0026266 \| mitral regurgitation C0014122 \| infectious endocarditis C0002940 \| aneurysm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0026266 \| mitral regurgitation \| 22 C0232605 \| regurgitation \| 22 C0014118 \| endocarditis \| 6 C0014121 \| infective endocarditis \| 4 C0039231 \| tachycardia \| 2 C0014121 \| bacterial endocarditis \| 1 C1504390 \| ortner's syndrome \| 1 C0026266 \| mitral insufficiency \| 1 C0022578 \| keratoconus \| 1

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

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918126	NA	6530	SLC6A2	umls:C0026267	CLINVAR	NA	0.123452799	NA	SLC6A2	16	55698005	G	A,C,T
rs121918126	12589229	6530	SLC6A2	umls:C0026267	BeFree	Orthostatic intolerance is not necessarily related to a specific mutation (Ala457Pro) in the human norepinephrine transporter gene.	0.123452799	2003	SLC6A2	16	55698005	G	A,C,T

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.)

Disease ID	260
Disease	mitral valve prolapse syndrome
Case	(Waiting for update.)

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