Gene Summary

Name:
ADAM metallopeptidase 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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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 Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 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.

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, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... 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, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... OMIM:607941
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis ORPHA:2871
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... OMIM:614823
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve OMIM:619825
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis, Arrhythmia 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, Tricuspid regurgitation, Reduced left ventricular ejection fraction, 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, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... 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
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Mitral valve prolapse OMIM:609008
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
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis OMIM:250951
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology ORPHA:98892
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Aortic valve stenosis, Joint hemor... OMIM:193400
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation OMIM:615476
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Gaucher Disease, Type I
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... OMIM:230800
Supravalvular Aortic Stenosis
Pulmonic stenosis, Supravalvular aortic stenosis OMIM:185500
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... ORPHA:210122
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve OMIM:618845
Sneddon Syndrome
Hypertension, Cerebral hemorrhage, Bicuspid aortic valve, Ischemic stroke OMIM:182410
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... 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
Geleophysic Dysplasia 2
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... OMIM:614185
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Atrial septal defect, Aortic valve stenosis, Right v... OMIM:267010
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Abnormal cardiac septum morphology, Aortic valve stenos... ORPHA:96147
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis ORPHA:1338
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Palpitations, Atrial septal defect, Mitral sten... ORPHA:2847
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:7
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis ORPHA:459061
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st... ORPHA:2306
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis OMIM:619433
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... ORPHA:2326
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis OMIM:619149
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Anomalous pulmonary venous return, Abnormal aorti... ORPHA:1120
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh... ORPHA:254346
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... ORPHA:3097
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis OMIM:614114
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenos... OMIM:208050
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va... OMIM:609029
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis OMIM:277600
Antisynthetase Syndrome
Aortic regurgitation, Myocarditis, Telangiectasia of the skin, Pulmonary arterial hypertension ORPHA:81
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosis, Hypoplastic left h... OMIM:618164
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart ORPHA:261290
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Mitral regurgit... OMIM:611962
Anauxetic Dysplasia 1
Aortic valve stenosis OMIM:607095
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension OMIM:602531
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Mitral regurgitation OMIM:253010
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis ORPHA:2780
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va... ORPHA:96170
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa... OMIM:601808
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Geleophysic Dysplasia 1
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis OMIM:217085
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Syndromic Diarrhea
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology... ORPHA:84064
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve OMIM:615009
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Temtamy Syndrome
Aortic regurgitation OMIM:218340
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Bicuspid aortic valve, Mitral regurgitation OMIM:613563
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... ORPHA:576
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:607015
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Portal hypertension, Situs inversus totalis OMIM:208540
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:608328
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:607014
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:500159
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Ventricular septal defect ORPHA:464311
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Subvalvular aortic stenosis OMIM:619461
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Aortic regurgitation OMIM:620072
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect OMIM:609460
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Scheie Syndrome
Aortic regurgitation ORPHA:93474
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perim... ORPHA:508498
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Aortic regurgitation, Subvalvular aortic stenosis ORPHA:1052
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Ventricular septal defect ORPHA:464306
Alpha-Mannosidosis, Adult Form
Aortic regurgitation ORPHA:309288
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Heart murmur, Mitral re... OMIM:614866
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... OMIM:121050
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse ORPHA:2396
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... OMIM:154700
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve ORPHA:329224
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic regurgitation ORPHA:261330
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... ORPHA:477817
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Aortic regurgitation, Mitral valve calcification, Mitral stenosis, Angin... ORPHA:740
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology ORPHA:401973
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation OMIM:616603
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation OMIM:252600
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Beh├žet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... ORPHA:117
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation ORPHA:261349
Mend Syndrome
Aortic valve stenosis OMIM:300960
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
7Q11.23 Microduplication Syndrome
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect ORPHA:96121
Reactive Arthritis
Aortic regurgitation, Pericarditis ORPHA:29207
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Biventricular hypertrophy, ... OMIM:617402
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Cardiomegaly, Congestive heart failure, Heart murmur, Mitral regurgitation,... OMIM:252500
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Mitral regurgitation, Tricu... OMIM:601776
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve... OMIM:139210
Spondylodysplastic Ehlers-Danlos Syndrome
Atrial septal defect, Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis ORPHA:536471
Hajdu-Cheney Syndrome
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis ORPHA:955
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart ORPHA:2308
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Abnormal heart morphology, Mitral regurgitation, Pulmo... ORPHA:284984
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... OMIM:608978
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353281
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Bicuspid aortic valve OMIM:619720
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v... OMIM:612474
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... OMIM:619475
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Mitral regu... ORPHA:90348
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu... OMIM:300166
Turnpenny-Fry Syndrome
Atrial septal defect, Aortic regurgitation, Tricuspid valve prolapse, Mitral valve prolapse OMIM:618371
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Zttk Syndrome
Atrial septal defect, Ventricular septal defect, Aortic regurgitation OMIM:617140
Gaucher Disease, Type Iiic
Aortic valve calcification, Mitral stenosis, Mitral valve calcification, Cardiomegaly OMIM:231005
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Atypical Werner Syndrome
Telangiectasia of the skin, Aortic valve calcification, Congestive heart failure, Mitral valve pr... ORPHA:79474
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mitral regurgitation ORPHA:309282
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis OMIM:610759
Kleefstra Syndrome
Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia ORPHA:261494
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Atrial septal defect, Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve OMIM:300707
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
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
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis OMIM:610443
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:130720
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Tricuspid regurgi... OMIM:619534
Osteogenesis Imperfecta
Abnormal endocardium morphology, Cerebral hemorrhage, Aortic regurgitation, Mitral valve prolapse ORPHA:666
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Heterotaxy, Visceral, 1, X-Linked
Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M... OMIM:306955
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, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Subvalvular aortic stenosis ORPHA:65286
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:453499
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:613355
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... OMIM:151100
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... ORPHA:536545
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation OMIM:271640
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse OMIM:609192
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ... OMIM:220111
Ogden Syndrome
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... OMIM:300855
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Abnormal heart morphology, Pulmonic s... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Hyphema, A... ORPHA:261552
Mowat-Wilson Syndrome
Bicuspid aortic valve, Abnormal heart morphology, Abnormal cardiac septum morphology, Pulmonic st... ORPHA:2152
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve ORPHA:1772
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:352665
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363958
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Abnormal heart morphology, ... OMIM:612289
Cranioectodermal Dysplasia 1
Bicuspid aortic valve OMIM:218330
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... OMIM:613795
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
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Mitral valve prolapse, Hyp... OMIM:194050
Pallister-Killian Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Aortic valve stenosis, Ventricular septal defect OMIM:601803
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Loeys-Dietz Syndrome 2
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse OMIM:610168
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... OMIM:607872
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99226
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Transposition of the great arteries, Subvalvular aortic stenosis, Doub... OMIM:280000
Trichorhinophalangeal Syndrome, Type Ii
Partial anomalous pulmonary venous return, Bicuspid aortic valve, Myocardial infarction, Right ve... OMIM:150230
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Portal hypertension, Muscular ventricular septal defec... 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