Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal atrioventricular valve morphology (HP:0006705)help
Parent Node:
expand
Abnormal mitral valve morphology (HP:0001633)help
..Starting node
..expand
Mitral valve prolapse (HP:0001634)help
Term ID: 1634
Name: Mitral valve prolapse
Synonym:
Definition: One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Comments:
Reference: HP:0001634
Genes and Diseases:
 
       Child Nodes:
........expandMyxomatous mitral valve degeneration (HP:0004764) help

 Sister Nodes: 
..expandAbnormal mitral valve annulus morphology (HP:0031478) help
..expandAbnormal mitral valve leaflet morphology (HP:0031480) help
..expandAbnormal morphology of the chordae tendinae of the mitral valve (HP:0025523) help
..expandDilatation of the mitral annulus (HP:0031479) help
..expandDouble orifice mitral valve (HP:0011568) help
..expandMitral atresia (HP:0011560) help
..expandMitral valve arcade (HP:0011564) help
..expandMitral valve calcification (HP:0004382) help
..expandSupramitral ring (HP:0011572) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001634HP:0001634Mitral valve prolapse0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional415
HP:0001634HP:0001634Mitral valve prolapse0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0001634HP:0001634Mitral valve prolapse0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0001634HP:0001634Mitral valve prolapse0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0001634HP:0001634Mitral valve prolapse0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional
HP:0001634HP:0001634Mitral valve prolapse0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional93
HP:0001634HP:0001634Mitral valve prolapse0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0001634HP:0001634Mitral valve prolapse0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0001634HP:0001634Mitral valve prolapse0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0001634HP:0001634Mitral valve prolapse0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0001634HP:0001634Mitral valve prolapse0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0001634HP:0001634Mitral valve prolapse0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0001634HP:0001634Mitral valve prolapse0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional5
HP:0001634HP:0001634Mitral valve prolapse0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent276
HP:0001634HP:0001634Mitral valve prolapse0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0001634HP:0001634Mitral valve prolapse0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0001634HP:0001634Mitral valve prolapse0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0001634HP:0001634Mitral valve prolapse0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0001634HP:0001634Mitral valve prolapse0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0001634HP:0001634Mitral valve prolapse0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0001634HP:0001634Mitral valve prolapse0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare373
HP:0001634HP:0001634Mitral valve prolapse0COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I.373
HP:0001634HP:0001634Mitral valve prolapse0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0001634HP:0001634Mitral valve prolapse0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0001634HP:0001634Mitral valve prolapse0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1HP:0040282 - Frequent284
HP:0001634HP:0001634Mitral valve prolapse0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0001634HP:0001634Mitral valve prolapse0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001634HP:0001634Mitral valve prolapse0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0001634HP:0001634Mitral valve prolapse0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare660
HP:0001634HP:0001634Mitral valve prolapse0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I.660
HP:0001634HP:0001634Mitral valve prolapse0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare325
HP:0001634HP:0001634Mitral valve prolapse0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0001634HP:0001634Mitral valve prolapse0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001634HP:0001634Mitral valve prolapse0DCHS1 CL E G H864213681OMIM:607829Mitral valve prolapse, myxomatous 2.27
HP:0001634HP:0001634Mitral valve prolapse0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional
HP:0001634HP:0001634Mitral valve prolapse0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0001634HP:0001634Mitral valve prolapse0DZIP1 CL E G H2287320908OMIM:610840MITRAL VALVE PROLAPSE 3; MVP3
HP:0001634HP:0001634Mitral valve prolapse0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0001634HP:0001634Mitral valve prolapse0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001634HP:0001634Mitral valve prolapse0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional151
HP:0001634HP:0001634Mitral valve prolapse0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001634HP:0001634Mitral valve prolapse0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0001634HP:0001634Mitral valve prolapse0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0001634HP:0001634Mitral valve prolapse0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0001634HP:0001634Mitral valve prolapse0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0001634HP:0001634Mitral valve prolapse0FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0001634HP:0001634Mitral valve prolapse0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0001634HP:0001634Mitral valve prolapse0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040282 - Frequent1361
HP:0001634HP:0001634Mitral valve prolapse0FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactylyHP:0040283 - Occasional655
HP:0001634HP:0001634Mitral valve prolapse0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital.655
HP:0001634HP:0001634Mitral valve prolapse0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040282 - Frequent2
HP:0001634HP:0001634Mitral valve prolapse0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0001634HP:0001634Mitral valve prolapse0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0FLNA CL E G H23163754OMIM:314400Cardiac valvular dysplasia, X-linked.493
HP:0001634HP:0001634Mitral valve prolapse0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0001634HP:0001634Mitral valve prolapse0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0001634HP:0001634Mitral valve prolapse0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0001634HP:0001634Mitral valve prolapse0FMN2 CL E G H5677614074OMIM:616193MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT4744
HP:0001634HP:0001634Mitral valve prolapse0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0001634HP:0001634Mitral valve prolapse0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040283 - Occasional30
HP:0001634HP:0001634Mitral valve prolapse0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0001634HP:0001634Mitral valve prolapse0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional6
HP:0001634HP:0001634Mitral valve prolapse0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001634HP:0001634Mitral valve prolapse0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001634HP:0001634Mitral valve prolapse0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001634HP:0001634Mitral valve prolapse0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0001634HP:0001634Mitral valve prolapse0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2HP:0040283 - Occasional185
HP:0001634HP:0001634Mitral valve prolapse0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0001634HP:0001634Mitral valve prolapse0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001634HP:0001634Mitral valve prolapse0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001634HP:0001634Mitral valve prolapse0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0001634HP:0001634Mitral valve prolapse0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional148
HP:0001634HP:0001634Mitral valve prolapse0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001634HP:0001634Mitral valve prolapse0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2196
HP:0001634HP:0001634Mitral valve prolapse0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0001634HP:0001634Mitral valve prolapse0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040283 - Occasional645
HP:0001634HP:0001634Mitral valve prolapse0LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature.12
HP:0001634HP:0001634Mitral valve prolapse0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0001634HP:0001634Mitral valve prolapse0MAP3K7 CL E G H68856859ORPHA:3238Cardiospondylocarpofacial syndromeHP:0040281 - Very frequent11
HP:0001634HP:0001634Mitral valve prolapse0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001634HP:0001634Mitral valve prolapse0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0001634HP:0001634Mitral valve prolapse0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001634HP:0001634Mitral valve prolapse0MFAP5 CL E G H807629673OMIM:616166AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT911
HP:0001634HP:0001634Mitral valve prolapse0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001634HP:0001634Mitral valve prolapse0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001634HP:0001634Mitral valve prolapse0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0001634HP:0001634Mitral valve prolapse0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0001634HP:0001634Mitral valve prolapse0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0001634HP:0001634Mitral valve prolapse0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional1269
HP:0001634HP:0001634Mitral valve prolapse0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0001634HP:0001634Mitral valve prolapse0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0001634HP:0001634Mitral valve prolapse0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0001634HP:0001634Mitral valve prolapse0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040284 - Very rare1952
HP:0001634HP:0001634Mitral valve prolapse0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001634HP:0001634Mitral valve prolapse0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0001634HP:0001634Mitral valve prolapse0PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional342
HP:0001634HP:0001634Mitral valve prolapse0PKD1 CL E G H53109008OMIM:173900Polycystic kidneys342
HP:0001634HP:0001634Mitral valve prolapse0PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040283 - Occasional106
HP:0001634HP:0001634Mitral valve prolapse0PLD1 CL E G H53379067OMIM:212093Cardiac valvular defect, developmental.4
HP:0001634HP:0001634Mitral valve prolapse0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0001634HP:0001634Mitral valve prolapse0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0001634HP:0001634Mitral valve prolapse0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0001634HP:0001634Mitral valve prolapse0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional58
HP:0001634HP:0001634Mitral valve prolapse0PRG4 CL E G H102169364ORPHA:2848Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome6
HP:0001634HP:0001634Mitral valve prolapse0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent291
HP:0001634HP:0001634Mitral valve prolapse0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent212
HP:0001634HP:0001634Mitral valve prolapse0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 6.40
HP:0001634HP:0001634Mitral valve prolapse0RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040282 - Frequent1200
HP:0001634HP:0001634Mitral valve prolapse0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0001634HP:0001634Mitral valve prolapse0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional144
HP:0001634HP:0001634Mitral valve prolapse0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040281 - Very frequent134
HP:0001634HP:0001634Mitral valve prolapse0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001634HP:0001634Mitral valve prolapse0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0001634HP:0001634Mitral valve prolapse0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040282 - Frequent150
HP:0001634HP:0001634Mitral valve prolapse0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0001634HP:0001634Mitral valve prolapse0SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy.
HP:0001634HP:0001634Mitral valve prolapse0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001634HP:0001634Mitral valve prolapse0SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeHP:0040283 - Occasional504
HP:0001634HP:0001634Mitral valve prolapse0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0001634HP:0001634Mitral valve prolapse0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0001634HP:0001634Mitral valve prolapse0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0TAB2 CL E G H2311817075OMIM:614980Congenital heart defects, multiple types, 211
HP:0001634HP:0001634Mitral valve prolapse0TAB2 CL E G H2311817075ORPHA:228410Polyvalvular heart disease syndromeHP:0040281 - Very frequent11
HP:0001634HP:0001634Mitral valve prolapse0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0001634HP:0001634Mitral valve prolapse0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0001634HP:0001634Mitral valve prolapse0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0001634HP:0001634Mitral valve prolapse0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0TNXB CL E G H714811976ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1HP:0040283 - Occasional134
HP:0001634HP:0001634Mitral valve prolapse0TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like.134
HP:0001634HP:0001634Mitral valve prolapse0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0001634HP:0001634Mitral valve prolapse0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0001634HP:0001634Mitral valve prolapse0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional7128
HP:0001634HP:0001634Mitral valve prolapse0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0001634HP:0001634Mitral valve prolapse0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0001634HP:0001634Mitral valve prolapse0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040283 - Occasional546
HP:0001634HP:0001634Mitral valve prolapse0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001634HP:0001634Mitral valve prolapse0VWF CL E G H745012726OMIM:193400Von willebrand disease, type 1.533
HP:0001634HP:0001634Mitral valve prolapse0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0001634HP:0001634Mitral valve prolapse0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0001634HP:0001634Mitral valve prolapse0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome.5
HP:0001634HP:0001634Mitral valve prolapse0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0001634HP:0001634Mitral valve prolapse0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional397
HP:0001634HP:0004764Myxomatous mitral valve degeneration1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001634HP:0004764Myxomatous mitral valve degeneration1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001634HP:0004764Myxomatous mitral valve degeneration1TAB2 CL E G H2311817075OMIM:614980Congenital heart defects, multiple types, 2.11


Genes (116) :ABCC6 AEBP1 ALG5 ALG9 ANK1 ATP6V1E1 B3GALT6 B3GAT3 BAZ1B BCL7B BCOR BICC1 BRAF BRF1 BUD23 CBS CHST14 CHST3 CLIC2 CLIP2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COX7B CREBBP DCHS1 DNAJB11 DNAJC30 DSE DZIP1 EIF4H ELN ENPP1 EP300 EXTL3 FBN1 FBN2 FIBP FKBP6 FLNA FMN2 FMR1 GANAB GTF2I GTF2IRD1 GTF2IRD2 HCCS HCN4 HEXB HNRNPH2 HRAS IFT140 IPO8 KRAS LIMK1 LMNA LTBP3 LZTR1 MAP3K7 MAPK1 MED12 METTL27 MFAP5 MLXIPL MMP14 MMP2 MYH7 MYPN NCF1 NDUFB11 NF1 NPR3 PCGF2 PKD1 PKD2 PLD1 PLOD1 POLG PRDM5 PRG4 PTPN11 RAF1 RFC2 RPL5 RYR1 SACS SELENON SH3PXD2B SKI SLC29A3 SLC6A6 SMAD3 SMAD4 SPRED1 SPRED2 STX1A TAB2 TBL2 TGFB2 TGFBR1 TGFBR2 TMEM270 TNXB TPM2 TPM3 TTN TWNK VPS13B VPS37D VWF XYLT1 XYLT2 ZNF469

Diseases (106) :ORPHA:758 OMIM:177850 OMIM:264800 ORPHA:536532 OMIM:618000 ORPHA:730 ORPHA:251066 OMIM:617402 ORPHA:536467 OMIM:245600 ORPHA:904 OMIM:300166 ORPHA:2712 ORPHA:500 ORPHA:444072 OMIM:616202 OMIM:236200 OMIM:601776 ORPHA:324410 ORPHA:287 OMIM:166200 ORPHA:230851 OMIM:225320 ORPHA:90653 OMIM:108300 OMIM:130050 ORPHA:286 OMIM:130000 ORPHA:2556 OMIM:180849 OMIM:607829 OMIM:615539 OMIM:610840 OMIM:194050 ORPHA:508533 OMIM:614185 OMIM:616914 OMIM:154700 OMIM:604308 ORPHA:284979 ORPHA:2462 ORPHA:115 OMIM:121050 ORPHA:500095 OMIM:617107 OMIM:314400 ORPHA:555877 OMIM:305620 OMIM:309350 OMIM:616193 OMIM:300624 ORPHA:908 ORPHA:449291 OMIM:163800 ORPHA:309155 OMIM:300986 OMIM:218040 ORPHA:3071 OMIM:619472 OMIM:615278 OMIM:609942 ORPHA:79474 OMIM:601216 OMIM:616564 ORPHA:3238 OMIM:619087 ORPHA:93932 OMIM:616166 ORPHA:371428 OMIM:259600 ORPHA:324604 ORPHA:171881 ORPHA:363700 OMIM:619543 OMIM:618371 OMIM:173900 OMIM:212093 ORPHA:1900 OMIM:258450 OMIM:607459 ORPHA:90354 ORPHA:2848 OMIM:612561 ORPHA:597 ORPHA:98 ORPHA:137834 OMIM:249420 OMIM:182212 OMIM:602782 OMIM:145350 OMIM:613795 OMIM:175050 ORPHA:137605 OMIM:619745 OMIM:614980 ORPHA:228410 OMIM:614816 OMIM:609192 OMIM:610168 ORPHA:230839 OMIM:606408 OMIM:216550 ORPHA:193 OMIM:193400 OMIM:605822 OMIM:229200
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.