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Genes Phenotypes Help, News, Blog

Gene: Adamts19 MGI:2442875

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Gene Summary

Name:
ADAM metallopeptidase with thrombospondin type 1 motif 19
Synonyms:
D230034E10Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

15 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Adamts19tm4a(EUCOMM)Wtsi
HOM, Female, WTSI
Adamts19tm4a(EUCOMM)Wtsi
HOM, Male, WTSI
Adamts19tm4a(EUCOMM)Wtsi
HOM, Male, WTSI
Adamts19tm4a(EUCOMM)Wtsi
HOM, Male, WTSI
Adamts19tm4a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 72 images

Adamts19tm4a(EUCOMM)Wtsi
fused cornea and lens, HOM, Male, WTSI

Human diseases caused by Adamts19 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Adamts19 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Subvalvular a... OMIM:620067

The table below shows human diseases predicted to be associated to Adamts19 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... OMIM:314400
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Subvalvular a... OMIM:620067
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Mitral regurgitation, Patent foramen ovale, Bicuspid... OMIM:614823
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro... ORPHA:228410
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy OMIM:615382
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve OMIM:619825
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ... ORPHA:402075
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis OMIM:607016
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function OMIM:132900
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse OMIM:609008
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis OMIM:220220
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Mitral valve prolapse, Joint hemor... OMIM:193400
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation ORPHA:98892
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation OMIM:252605
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis OMIM:250951
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonic stenosis OMIM:185500
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Bicuspid aortic valve, Double outlet right ventricle OMIM:618845
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... OMIM:615415
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Sneddon Syndrome
Bicuspid aortic valve, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect, Mitral stenosis OMIM:617660
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Pulmonary ar... OMIM:614185
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Heart murmur, Congestive heart failure ORPHA:1054
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal cardiac atrium morphology,... ORPHA:2306
Meckel Syndrome, Type 7
Aortic valve stenosis, Situs inversus totalis, Portal hypertension, Atrial septal defect, Right v... OMIM:267010
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Abnormal ca... ORPHA:96147
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral regurgitat... ORPHA:230851
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Mitral regurgitation, Dou... ORPHA:2326
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis ORPHA:1338
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Mitral regurgitation, M... ORPHA:363618
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale OMIM:619149
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ... ORPHA:254346
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Mitral regurgitation, Right ventricular hypertrophy, Congestive heart failure ORPHA:423461
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614114
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Emanuel Syndrome
Aortic valve stenosis, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Pulmo... OMIM:609029
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Abnormal aortic valve morphology, Bicuspi... ORPHA:1120
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Ischemic stroke, Telangiect... OMIM:208050
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect OMIM:277600
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Aortic regurgitation OMIM:619745
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart ORPHA:261290
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Antisynthetase Syndrome
Myocarditis, Aortic regurgitation, Pulmonary arterial hypertension, Telangiectasia of the skin ORPHA:81
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Mitral regurgitation OMIM:253010
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Anauxetic Dysplasia 1
Aortic valve stenosis OMIM:607095
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Hunter-Macdonald Syndrome
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicuspid aortic valve, Hyperte... OMIM:611962
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... ORPHA:1600
Emanuel Syndrome
Aortic valve stenosis, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Pulmo... ORPHA:96170
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... OMIM:601808
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis ORPHA:2780
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:100300
Grange Syndrome
Bicuspid aortic valve, Renovascular hypertension, Coronary artery stenosis OMIM:602531
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Severely reduced left ventricular ejection fraction, Cardiomyopathy OMIM:252600
Temtamy Syndrome
Aortic regurgitation OMIM:218340
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Syndromic Diarrhea
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:84064
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology OMIM:615009
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Bicuspid aortic valve, Mitral regurgitation OMIM:613563
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Arrhythmia, Subvalvular aortic stenosis ORPHA:3191
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal heart morphology, Dilatation of the ventricular cavity, Aortic regurgitation, Mitral val... ORPHA:85438
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Mitral regurgit... ORPHA:576
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos... ORPHA:56
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Mitral atresia, Aortic regurgitation, Abnormal cardiac septum morphology ORPHA:140952
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:607015
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Ventricular septal defect,... OMIM:608328
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Situs inversus totalis, Atrial septal defect, Portal hypertension OMIM:208540
Hurler Syndrome
Aortic regurgitation, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:607014
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Ventricular septal defect ORPHA:464311
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal heart morphology, Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect ORPHA:500159
Geleophysic Dysplasia 1
Aortic valve stenosis, Congestive heart failure, Mitral stenosis, Pulmonary arterial hypertension... OMIM:231050
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect OMIM:620072
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation OMIM:617168
Scheie Syndrome
Aortic regurgitation ORPHA:93474
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect OMIM:609460
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... OMIM:607721
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Subvalvular aortic stenosis, Mitral stenosis OMIM:619461
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Mi... OMIM:143095
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect OMIM:619721
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... ORPHA:508498
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect OMIM:617751
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... OMIM:618164
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Subvalvular aortic stenosis, Atrial septal defect ORPHA:1052
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Tricuspid valve prolapse, Pulmonary arterial hypertension ORPHA:2396
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular septal defect ORPHA:464306
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Congestive heart failure, Tricuspid regurgita... OMIM:154700
Alpha-Mannosidosis, Adult Form
Aortic regurgitation ORPHA:309288
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, A... OMIM:614866
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Aortic regurgitation, Pulmonic stenosis, Ventricular septal defect OMIM:222470
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Contractural Arachnodactyly, Congenital
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... OMIM:121050
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Ventricular septal defect ORPHA:329224
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Truncus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:261330
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology ORPHA:401973
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Aortic regurgitation,... ORPHA:740
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation OMIM:616603
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:620511
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Mend Syndrome
Aortic valve stenosis OMIM:300960
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation ORPHA:261349
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:252500
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect OMIM:616652
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Atrial septal defect, Ventricular septal defect ORPHA:96121
Reactive Arthritis
Aortic regurgitation, Pericarditis ORPHA:29207
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Patent foramen ovale, M... OMIM:617402
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Supravalvular aortic stenosis OMIM:219100
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Tricu... OMIM:601776
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Abnormal pulmonary valve ... ORPHA:268261
Myhre Syndrome
Aortic valve stenosis, Ventricular septal defect, Atrial septal defect, Pericardial effusion, Hyp... OMIM:139210
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Atrial septal defect, Pulmonic stenosis ORPHA:536471
Hajdu-Cheney Syndrome
Aortic valve stenosis, Mitral stenosis, Ventricular septal defect ORPHA:955
Marfan Syndrome
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Mitral valve prolapse, Tric... ORPHA:558
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Abnormal heart morphology, Mitral regurgitation, Left ventricular hypertrop... ORPHA:284984
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect ORPHA:2308
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
X Small Rings
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect ORPHA:96201
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Ventricular sep... ORPHA:353281
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... ORPHA:2729
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect OMIM:619720
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Ventricular septal defect, Bicuspi... OMIM:608978
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:457279
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Turnpenny-Fry Syndrome
Aortic regurgitation, Tricuspid valve prolapse, Atrial septal defect, Mitral valve prolapse OMIM:618371
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Congestive heart failure, Ventricular septal defect, Bicuspid aortic valve,... OMIM:619475
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral... OMIM:182250
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral regurgitation, Congestive hear... ORPHA:90348
Loeys-Dietz Syndrome 3
Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Bicus... OMIM:613795
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Zttk Syndrome
Aortic regurgitation, Atrial septal defect, Ventricular septal defect OMIM:617140
Gaucher Disease, Type Iiic
Aortic valve calcification, Cardiomegaly, Mitral stenosis, Mitral valve calcification OMIM:231005
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Mitral valve prolaps... ORPHA:79474
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mitral regurgitation ORPHA:309282
Kleefstra Syndrome
Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia, Ventricular septal defect ORPHA:261494
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610759
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ... ORPHA:353277
Koolen-De Vries Syndrome
Bicuspid aortic valve, Abnormal cardiac septum morphology ORPHA:96169
Koolen-De Vries Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610443
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale OMIM:300707
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Mitral valve prolapse, Cerebral hemorrhage ORPHA:666
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Bidirectional shunt, Unbalanced atrioventricular canal defect, Secundum atr... OMIM:619534
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:130720
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect OMIM:620654
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Encephalocraniocutaneous Lipomatosis
Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect OMIM:613001
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve OMIM:301111
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Right-to-left shunt, Tetralogy of Fallot, Atriove... OMIM:265380
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal defect, Bicuspid aor... ORPHA:453499
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Common atrium, Total anomalous pulmonary venous return, Mitral atresia, A... OMIM:306955
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:613355
Distal Deletion 15Q
Hypoplastic left heart, Double outlet right ventricle with doubly committed ventricular septal de... ORPHA:1596
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Subvalvular aortic stenosis ORPHA:65286
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Pulmonic stenosis, Patent foramen ovale OMIM:617137
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Arterial rupture, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, ... ORPHA:536545
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Mitral regurgitation, Atrial septal defect, Ventricular septal defect OMIM:271640
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Bicuspid aortic valve, Transient ischemic attack OMIM:619656
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Bicuspid aortic valve, Left ve... OMIM:220111
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonary valve m... ORPHA:261537
Ogden Syndrome
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... OMIM:300855
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonar... ORPHA:261552
Mowat-Wilson Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Bicuspid aortic valve, Abn... ORPHA:2152
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Bicuspid aortic valve, Tachycardia ORPHA:1772
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr... ORPHA:363958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect ORPHA:352665
Fontaine Progeroid Syndrome
Abnormal heart morphology, Tricuspid regurgitation, Bicuspid aortic valve, Left ventricular hyper... OMIM:612289
Pallister-Killian Syndrome
Aortic valve stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:601803
Cranioectodermal Dysplasia 1
Bicuspid aortic valve OMIM:218330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:438213
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Bicuspid pulmonary valve OMIM:609192
Proximal Renal Tubular Acidosis
Subvalvular aortic stenosis, Hypovolemia ORPHA:47159
Williams Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Cerebral ischemia, Su... ORPHA:904
Williams-Beuren Syndrome
Coronary artery stenosis, Myxomatous mitral valve degeneration, Supravalvular aortic stenosis, Mi... OMIM:194050
Loeys-Dietz Syndrome 2
Patent foramen ovale, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Bicuspi... OMIM:610168
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Non... OMIM:607872
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper... ORPHA:99413
Turner Syndrome
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper... ORPHA:881
Mosaic Monosomy X
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper... ORPHA:99228
Monosomy X
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper... ORPHA:99226
Trichorhinophalangeal Syndrome, Type Ii
Partial anomalous pulmonary venous return, Bicuspid aortic valve, Right ventricular hypertrophy, ... OMIM:150230
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Subvalvular ... OMIM:280000
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Partial atrioventricular canal defect, Patent foramen ovale, Ventricul... OMIM:616462
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Patent foramen ovale, Ventricular septal defect, Cardiomega... OMIM:619991
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ischemic stroke, Port... OMIM:619503
Microphthalmia, Syndromic 1
Bicuspid aortic valve OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Adamts19

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adamts19.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation. PLoS genetics (March 2021) Adamts19tm4a(EUCOMM)Wtsi PMC8018652
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Adamts19tm4a(EUCOMM)Wtsi PMC7263671
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease. Nature genetics (December 2019) Adamts19tm4a(EUCOMM)Wtsi Adamts19tm4b(EUCOMM)Wtsi PMC7197892
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Adamts19tm4a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Adamts19tm4a(EUCOMM)Wtsi