Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 19
Synonyms:
D230034E10Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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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Viewing: all phenotypes

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 Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Eye Morphology

Images Slit Lamp

1 Images

Legacy Phenotype Associated Images

View all 72 images

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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis OMIM:241550
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... OMIM:615779
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification OMIM:114065
Aortic Valve Disease 3
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis OMIM:618496
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Short chordae tendineae of th... OMIM:314400
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis OMIM:261560
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Polyvalvular Heart Disease Syndrome
Mitral valve prolapse, Tricuspid regurgitation, Pulmonic stenosis, Abnormal heart valve morpholog... ORPHA:228410
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Weill-Marchesani Syndrome
Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... OMIM:108800
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... ORPHA:3093
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Syncope, Partial atrioventricular canal defect, Mi... ORPHA:1330
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... ORPHA:2041
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Storm Syndrome
Myxomatous mitral valve degeneration, Mitral valve prolapse, Mitral valve calcification, Mitral s... OMIM:185069
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Abnormal left ventricular outflow trac... ORPHA:402075
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve OMIM:615599
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve OMIM:300049
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation OMIM:225320
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic regurgitation, Renovascular hypertension ORPHA:401923
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect OMIM:615981
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Aortic regurgitation, Abnormal left ventricular function OMIM:132900
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri... ORPHA:324410
Hypercalcemia, Infantile, 1
Aortic valve stenosis, Pulmonic stenosis OMIM:143880
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Situs inversus totalis, Pulmonic stenosis, Aorti... OMIM:615415
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... ORPHA:2299
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis OMIM:220220
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... ORPHA:99094
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology ORPHA:98892
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonary arterial hypertension, Hypertension OMIM:613355
Von Willebrand Disease, Type 1
Mitral valve prolapse, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Aortic valve ste... OMIM:193400
Mcdonough Syndrome
Ventricular septal defect, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis OMIM:248950
Acquired Von Willebrand Syndrome
Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Epistaxis, Joint hemorrhage,... ORPHA:99147
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Mitral valve prolapse, Pulmonic stenosis OMIM:609008
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis OMIM:250951
Mend Syndrome
Aortic valve stenosis OMIM:300960
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Transposition of the great arteries OMIM:612474
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... OMIM:220210
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonic stenosis OMIM:185500
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Gaucher Disease, Type I
Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Epistaxis, Aortic valve sten... OMIM:230800
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Pulmonary arteri... ORPHA:210122
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Mitral regurgitation OMIM:123700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Mitral stenosis, Atrial septal defect OMIM:617660
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... ORPHA:1457
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart OMIM:618845
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Co... ORPHA:1686
Geleophysic Dysplasia 2
Mitral valve prolapse, Tricuspid stenosis, Mitral regurgitation, Pulmonary arterial hypertension,... OMIM:614185
Arterial Tortuosity Syndrome
Hypertension, Ventricular hypertrophy, Aortic regurgitation, Telangiectases of the cheeks, Ischem... OMIM:208050
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Aortic Valve Disease 2
Bicuspid aortic valve OMIM:614823
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonic stenosis OMIM:619433
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis OMIM:243310
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Pul... ORPHA:363705
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Bicuspid aortic valve, Aortic valve stenosis OMIM:614501
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Atrial fibrillation, Mitral regurgitation OMIM:617047
Meckel Syndrome, Type 7
Portal hypertension, Right ventricular hypertrophy, Situs inversus totalis, Atrial septal defect,... OMIM:267010
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Aortic valve st... ORPHA:2306
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va... OMIM:609029
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Palpitations, Abnormal heart morphology, Mitral stenosis, Atrial septal de... ORPHA:2847
Marfanoid Hypermobility Syndrome
Aortic regurgitation, Mitral regurgitation OMIM:154750
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Aortic regurgitation, Tetralogy of Fallot, Abnormal cardiac septum morphology... ORPHA:96147
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... ORPHA:7
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... ORPHA:2326
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Mitral valve prolapse, Mitral regurgitation, Aortic regurgitation, Tricu... ORPHA:230851
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Mitral valve calcification, Ventricu... ORPHA:363618
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Cardiomegaly, Transient ischemic attac... ORPHA:91387
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis ORPHA:1338
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic regurgitation, Atrial septal defect, Arrh... ORPHA:254346
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Tricuspid... ORPHA:1120
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Atrial septal defect, Subvalvular aortic stenosis OMIM:614114
Antisynthetase Syndrome
Myocarditis, Aortic regurgitation, Pulmonary arterial hypertension, Telangiectasia of the skin ORPHA:81
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Pulmonic stenosis OMIM:619149
Meacham Syndrome
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Transposition of the great... ORPHA:3097
Sc phocomelia syndrome
Aortic valve stenosis OMIM:269000
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Supravalvular ao... ORPHA:1461
Weill-Marchesani Syndrome 1
Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis OMIM:277600
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Hypertension, Mitral valve prolapse, Mitral regurgitation, Aortic regurgit... OMIM:611962
Cardiomyopathy, Familial Hypertrophic 27
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation OMIM:618052
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Mitral regurgitation OMIM:617168
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Grange Syndrome
Bicuspid aortic valve, Coronary artery stenosis, Renovascular hypertension OMIM:602531
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis OMIM:253010
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Aortic valve stenosis, Mitral regurgitation OMIM:613563
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:607015
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis OMIM:217085
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pulmonary arterial hypertension, ... OMIM:100300
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation OMIM:157700
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va... ORPHA:96170
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis ORPHA:2780
Trisomy 17P
Hypoplastic left heart, Aortic valve stenosis ORPHA:261290
Chromosome 18Q Deletion Syndrome
Ventricular septal defect, Dysplastic aortic valve, Atrial septal defect, Dysplastic pulmonary va... OMIM:601808
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation OMIM:616603
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Progeroid Short Stature With Pigmented Nevi
Bicuspid aortic valve, Aortic valve stenosis OMIM:176690
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Right ventricular dilatation, Palpitations, Elevated jugular venous pressure, Pulmonary ... ORPHA:422
Geleophysic Dysplasia 1
Congestive heart failure, Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis OMIM:231050
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Aortic regurgitation... ORPHA:84064
Monosomy 18Q
Left-to-right shunt, Mitral regurgitation, Pulmonary valve defects, Dysplastic pulmonary valve, C... ORPHA:1600
Hurler Syndrome
Aortic regurgitation, Endocardial fibroelastosis, Cardiomyopathy, Mitral regurgitation OMIM:607014
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Atrial septal defect OMIM:208540
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal heart morphology, Aortic regurgitation, Mitral valve prolapse, Dilatation of the ventric... ORPHA:85438
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology OMIM:615009
Cutis Laxa, Autosomal Recessive, Type Iic
Mitral valve prolapse, Biventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, ... OMIM:617402
Mucolipidosis Type Ii
Pulmonary insufficiency, Mitral regurgitation, Abnormal mitral valve morphology, Abnormal aortic ... ORPHA:576
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular septal defect, Tricuspid stenosis, Mitral regurgitation, Ventricular hypertrophy, Aor... OMIM:143095
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... OMIM:618619
Temtamy Syndrome
Aortic regurgitation OMIM:218340
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Teebi-Shaltout Syndrome
Ventricular septal defect, Aortic valve stenosis OMIM:272950
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Aortic valve stenosis ORPHA:464311
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Aortic regurgitation, Pulmonic stenosis, ... OMIM:607721
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Weill-Marchesani Syndrome 2
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Congestive heart failure, Aor... OMIM:608328
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal heart morphology, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale ORPHA:500159
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Mitral atresia, Aortic regurgitation, Abnormal cardiac septum morphology ORPHA:140952
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... ORPHA:508498
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:222470
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Subvalvular aortic stenosis OMIM:619461
Scheie Syndrome
Aortic regurgitation ORPHA:93474
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Atrial septal defect, Subvalvular aortic stenosis ORPHA:1052
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Ventricular septal defect, Aortic valve stenosis ORPHA:464306
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Marfan Syndrome
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Mitral annular calcification,... OMIM:154700
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Aortic regurgitation, Atrial septal defect, Tricuspid regurgitation OMIM:601347
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Aortic regurgitation, Cardiomegaly, Congestive heart failure, Heart ... OMIM:252500
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Alpha-Mannosidosis, Adult Form
Aortic regurgitation ORPHA:309288
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral valve prolapse, Mitral regurgitation OMIM:173900
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Tricuspid valve prolapse, Pulmonary arterial hypertension ORPHA:2396
Hutchinson-Gilford Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Abnormal mitral valve morpholo... ORPHA:740
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, At... OMIM:121050
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation OMIM:252600
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Patent foramen ovale ORPHA:329224
Mungan Syndrome
Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosis OMIM:611376
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Double outlet right ... ORPHA:477817
Beh├žet Disease
Pericarditis, Mitral regurgitation, Endocarditis, Aortic regurgitation, Cerebral ischemia, Myocar... ORPHA:117
Reactive Arthritis
Aortic regurgitation, Pericarditis ORPHA:29207
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Atrial septal defect, Truncus arteriosus ORPHA:261330
Mend Syndrome
Abnormal heart morphology, Aortic valve stenosis ORPHA:401973
Noonan Syndrome 12
Supravalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... ORPHA:439
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation ORPHA:261349
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Aortic valve stenosis ORPHA:96121
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Congestive heart failure, ... OMIM:182250
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Abnormal heart morphology, Aortic regurgitation, Abnormal pulmonary va... ORPHA:268261
Turnpenny-Fry Syndrome
Aortic regurgitation, Atrial septal defect, Mitral valve prolapse, Tricuspid valve prolapse OMIM:618371
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve OMIM:300707
X Small Rings
Bicuspid aortic valve, Ventricular septal defect, Mitral stenosis ORPHA:96201
Myhre Syndrome
Hypertension, Ventricular septal defect, Pericardial effusion, Atrial septal defect, Aortic valve... OMIM:139210
Aneurysm-Osteoarthritis Syndrome
Atrial fibrillation, Mitral regurgitation, Abnormal heart morphology, Aortic regurgitation, Pulmo... ORPHA:284984
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart ORPHA:2308
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Hajdu-Cheney Syndrome
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis ORPHA:955
Okamoto Syndrome
Ventricular septal defect, Primum atrial septal defect, Abnormal mitral valve morphology, Abnorma... ORPHA:2729
Cogan Syndrome
Large vessel vasculitis, Aortic regurgitation, Vasculitis ORPHA:1467
Autosomal Dominant Cutis Laxa
Mitral regurgitation, Aortic regurgitation, Congestive heart failure, Dilatation of the ventricul... ORPHA:90348
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis ORPHA:536471
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Cardiac total anomalous pulmonary... OMIM:608978
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Atrial septal defect OMIM:617140
Gaucher Disease, Type Iiic
Cardiomegaly, Mitral stenosis, Mitral valve calcification, Aortic valve calcification OMIM:231005
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Mitral stenosis, Tricuspid valve prolapse, Tricuspid re... OMIM:212093
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353281
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Vasculitis, Congestive heart failur... OMIM:115250
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Microphthalmia, Syndromic 2
Dextrocardia, Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Pu... OMIM:300166
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Cardiomyopathy, Mitral regurgitation OMIM:226100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Ventricular septal defect, Aortic regurgitation, Congestive heart failure,... OMIM:619475
Lateral Meningocele Syndrome
Bicuspid aortic valve OMIM:130720
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Hypertension, Cardiac amyloidosis, Abnormal cardiac ventricular func... ORPHA:439232
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dextrocardia, Left-to-right shunt, Primum atrial septal defect, Ventricular septal defect, Portal... OMIM:619534
Kleefstra Syndrome
Bicuspid aortic valve, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia ORPHA:261494
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mitral regurgitation ORPHA:309282
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Muscular subvalvular aortic sten... OMIM:601992
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:610759
Koolen-De Vries Syndrome
Bicuspid aortic valve, Abnormal cardiac septum morphology ORPHA:96169
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Mus... OMIM:229310
Osteogenesis Imperfecta
Cerebral hemorrhage, Aortic regurgitation, Abnormal endocardium morphology, Mitral valve prolapse ORPHA:666
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Atrial septal defect, Subvalvular aortic stenosis OMIM:613001
Atypical Werner Syndrome
Hypertension, Mitral valve prolapse, Telangiectasia of the skin, Congestive heart failure, Aortic... ORPHA:79474
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:610443
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353277
Subaortic Stenosis--Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis OMIM:271960
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Abnormal heart m... ORPHA:453499
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... OMIM:265380
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Subvalvular aortic stenosis ORPHA:65286
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Bicuspid aortic valve, Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Sub... ORPHA:536545
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Patent foramen ovale, Pulmonic stenosis OMIM:617137
Distal Monosomy 15Q
Bicuspid aortic valve, Mitral atresia, Mitral stenosis, Hypoplastic left heart, Abnormal cardiac ... ORPHA:1596
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Bicuspid pulmonary valve, Mitral valve prolapse OMIM:609192
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Mitral regurgitation OMIM:271640
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Muscular subvalvular aortic sten... OMIM:302900
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Bundle branch block, Pulmonic s... OMIM:151100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal heart morphology, Pulmonic stenosis, Tetralogy of Fallot, Abnorma... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, T... ORPHA:261552
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Prolonged QT interval, Tachycardia ORPHA:1772
Mowat-Wilson Syndrome
Bicuspid aortic valve, Abnormal heart morphology, Pulmonic stenosis, Tetralogy of Fallot, Abnorma... ORPHA:2152
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect ORPHA:352665
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363958
Cranioectodermal Dysplasia 1
Bicuspid aortic valve OMIM:218330
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Abnormal heart morphology, Pulmonary arterial hypertension, Tricuspid regu... OMIM:612289
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Mitral valve prolapse, Atrial fibrillation, Mitral regurgitation, Ventricu... OMIM:613795
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Hypertens... OMIM:194050
Proximal Renal Tubular Acidosis
Hypovolemia, Subvalvular aortic stenosis ORPHA:47159
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... ORPHA:438213
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Aortic valve stenosis OMIM:601803
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Bicuspid pulmonary valve, Mitral valve prolapse OMIM:610168
Williams Syndrome
Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... ORPHA:904
Turner Syndrome
Bicuspid aortic valve, Hypertension, Prolonged QT interval, Myocardial infarction, Hypoplastic le... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Hypertension, Prolonged QT interval, Myocardial infarction, Hypoplastic le... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Hypertension, Prolonged QT interval, Myocardial infarction, Hypoplastic le... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Hypertension, Prolonged QT interval, Myocardial infarction, Hypoplastic le... ORPHA:99413
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Noncompaction cardiomyo... OMIM:607872
Homozygous Familial Hypercholesterolemia
Hypertension, Myocardial steatosis, Mitral regurgitation, Heart murmur, Supravalvular aortic sten... ORPHA:391665
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Mitral atresia, Subvalvular aortic sten... 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