Gene Summary

Name:
vestigial like family member 4
Synonyms:
VGL-4

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Vgll4tm1b(EUCOMM)Hmgu HET Early adult 6.13×10-05
preweaning lethality, complete penetrance Vgll4tm1b(EUCOMM)Hmgu HOM   Early adult 5.65×10-05
increased circulating lipase level Vgll4tm1b(EUCOMM)Hmgu HET Early adult 1.16×10-07
increased bone mineral content Vgll4tm1b(EUCOMM)Hmgu HET Early adult 7.21×10-05

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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 Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Vgll4 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 Vgll4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Partial Atrioventricular Septal Defect
Atrial flutter, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Angina pectoris, B... ORPHA:1330
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Ethanolaminosis
Cardiomegaly OMIM:227150
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... ORPHA:228410
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic v... OMIM:615382
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, D... OMIM:616201
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... ORPHA:330001
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Failure to thrive, Tetralogy of Fallot, Double outlet right ventricle, Ventric... OMIM:601127
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Aortic Valve Disease 2
Aortic regurgitation, Patent foramen ovale, Pulmonic stenosis, Aortic valve stenosis, Bicuspid ao... OMIM:614823
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Patent ductus arteriosus OMIM:220220
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Large for ge... ORPHA:363705
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Aortic valve stenosis, Joint hemorrhage, Epistaxis, Mitral valve pro... OMIM:193400
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo... OMIM:615415
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v... ORPHA:210122
Familial Bicuspid Aortic Valve
Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Hypertension, Aortic va... ORPHA:402075
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotension, Pulmonic stenosis, Aortic... ORPHA:99147
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Failure to thrive, Patent ductus arteriosus OMIM:243310
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m... ORPHA:860
Gaucher Disease, Type I
Hepatomegaly, Hypertension, Pulmonary arterial hypertension, Aortic valve stenosis, Epistaxis, Sp... OMIM:230800
Scheie Syndrome
Aortic valve stenosis, Mitral stenosis, Aortic regurgitation OMIM:607016
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Dysplastic aortic valve, Tricuspid r... OMIM:620067
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Aortic valve stenosis ORPHA:75496
Attrv30M Amyloidosis
Cardiomyopathy, Atrioventricular block, Weight loss, Arrhythmia, Cardiomegaly ORPHA:85447
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Obesity OMIM:615981
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Pulmonic stenosis, Abnormal m... ORPHA:7
Emanuel Syndrome
Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Patent ductus ar... OMIM:609029
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Aortic valve stenosis, Failure to thrive, Obesity, Tetralogy of Fallot, Con... ORPHA:96147
Meckel Syndrome, Type 7
Situs inversus totalis, Portal hypertension, Aortic valve stenosis, Hepatosplenomegaly, Right ven... OMIM:267010
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgitation, Left ventricular hypert... OMIM:619698
Monosomy 18Q
Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Absence of the pul... ORPHA:1600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Atrial septal defect, Mitral stenosis, Hypoplastic left heart OMIM:617660
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... OMIM:314400
Familial Atrial Myxoma
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon... ORPHA:615
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Dysplastic pulmonary valve, Absence of the pulmonary valve, Dysplastic ... OMIM:601808
Emanuel Syndrome
Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Patent ductus ar... ORPHA:96170
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Pulmonary arterial hypertension, Aortic valve stenosis, Mitral ... OMIM:614185
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation OMIM:252605
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L... OMIM:108900
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Aortic valve stenosis, Patent ductus arteriosus, Bicuspid ... ORPHA:2306
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension OMIM:614475
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Hep... OMIM:115197
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis OMIM:250951
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v... ORPHA:1457
Trisomy 17P
Aortic valve stenosis, Patent ductus arteriosus, Hypoplastic left heart ORPHA:261290
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... ORPHA:3097
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve, Small for gestational age OMIM:614501
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Ventricular hypertrophy, Hypertension, Mitral valve calcification, Aort... ORPHA:363618
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect, Mi... OMIM:277600
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic regurgitation, Ventricular hypertrophy, Hypertension, Aortic valve stenos... OMIM:208050
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Hepatomegaly, Mitral regurgitation OMIM:253010
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Failure to thrive, Cardiomegaly, ... OMIM:614702
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Pulmonary arterial hypertension, Aortic valve stenosis, Dou... OMIM:615067
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Hepatomegaly, Pr... ORPHA:57777
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Failure to thrive, Splenomegaly, Cardiomegaly OMIM:269920
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Failure to thrive, Atrial septal defect OMIM:617744
Adams-Oliver Syndrome 1
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Tetralog... OMIM:100300
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Failure to thrive, Hepatosplenomegaly, Splenomegaly, Bicuspid aortic valve... OMIM:613563
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis ORPHA:2780
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Portal hypertension, Aortic valve stenosis... OMIM:208540
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve, Small for gestational age OMIM:176690
Anauxetic Dysplasia 1
Aortic valve stenosis OMIM:607095
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Decreased body weight, Supravalvar pulmonary stenosis, Aortic valve ste... OMIM:618164
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Failure to t... OMIM:212140
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Failure to thrive, Secundum atrial septal defect, Severely reduced left... OMIM:620609
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Failure to thrive, Patent ductus arteriosus, Ventric... ORPHA:464311
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep... OMIM:618652
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Subaortic Stenosis-Short Stature Syndrome
Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Arrhythmia ORPHA:3191
Weill-Marchesani Syndrome 2
Congestive heart failure, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ven... OMIM:608328
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Failure to thrive, Patent ductus arteriosus, Ventric... ORPHA:464306
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Sneddon Syndrome
Bicuspid aortic valve, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Alkaptonuria
Abnormal heart valve morphology, Hypertension, Mitral valve calcification, Aortic valve stenosis,... ORPHA:56
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Atrial ar... OMIM:300257
Congenital Toxoplasmosis
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly ORPHA:858
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Abnormal aortic valve morphology, Severe failure to thrive... ORPHA:740
Geleophysic Dysplasia 1
Congestive heart failure, Hepatomegaly, Tricuspid stenosis, Pulmonary arterial hypertension, Aort... OMIM:231050
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Mend Syndrome
Aortic valve stenosis, Failure to thrive, Abnormal heart morphology ORPHA:401973
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Pericardial And Diaphragmatic Defect
Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp... ORPHA:2847
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Decreased body weight OMIM:300958
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS ... ORPHA:75565
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:619149
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar... ORPHA:99931
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Obesity, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... ORPHA:96121
Myhre Syndrome
Hypertension, Aortic valve stenosis, Pericardial effusion, Obesity, Patent ductus arteriosus, Atr... OMIM:139210
Hajdu-Cheney Syndrome
Hepatomegaly, Aortic valve stenosis, Failure to thrive, Mitral stenosis, Splenomegaly, Patent duc... ORPHA:955
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, Dilated cardiomyopathy, O... ORPHA:401923
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid stenosis, Pulmonary arterial hypertensio... OMIM:143095
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatosplenomegaly OMIM:618955
Cantu Syndrome
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Congenital hypertrophy of... OMIM:239850
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Tricuspid valve prolapse, Pulmonary arterial hypertension ORPHA:2396
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pulmonic stenosis, Failure to thrive, Abnormal heart morphology, Cardiac c... ORPHA:353281
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:284169
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Aortic valve stenosis, Abnormal heart morphology, Failure to thrive in infa... ORPHA:268261
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Failure to thrive, Mitral stenosis, Subvalvular aortic stenosis OMIM:619461
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Hemochromatosis, Type 1
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Cardiomegaly, T... OMIM:235200
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Mend Syndrome
Aortic valve stenosis, Failure to thrive OMIM:300960
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Atrial septal defect, Aortic valve stenosis ORPHA:536471
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hy... ORPHA:308552
Microphthalmia, Syndromic 2
Dextrocardia, Decreased body weight, Pulmonic stenosis, Aortic valve stenosis, Mitral valve prola... OMIM:300166
Singleton-Merten Syndrome 1
Congestive heart failure, Decreased body weight, Mitral valve calcification, Aortic valve stenosi... OMIM:182250
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspid regurgitation, Patent ... ORPHA:1120
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation, Patent ductus arteriosus ORPHA:229
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f... OMIM:619343
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Chromosome 2Q37 Deletion Syndrome
Obesity, Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Cachexia, Hepatomegaly, Arrhythmia ORPHA:42
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, Aortic regurgitation OMIM:619825
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... OMIM:261740
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Total anomalous ... OMIM:613854
Jacobsen Syndrome
Aortic valve stenosis, Ventricular septal defect, Hypoplastic left heart ORPHA:2308
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Okamoto Syndrome
Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ... ORPHA:2729
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Abnormal left ventricular function, Aortic regurgitation, Patent ductus ar... OMIM:132900
Atypical Werner Syndrome
Congestive heart failure, Hypertension, Decreased body weight, Aortic valve stenosis, Failure to ... ORPHA:79474
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Small for gestational age, Pulmonary arterial hypertension OMIM:613320
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent foramen ovale, Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Abnormal heart... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent foramen ovale, Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Abnormal heart... ORPHA:353277
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventric... OMIM:612863
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary... OMIM:620642
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Failure to thrive, Atrial septal defect, Hypoplastic left heart OMIM:619721
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Cardiomega... OMIM:201475
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:500159
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Failure to thrive, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... ORPHA:329224
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Tachycardia... ORPHA:980
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Grange Syndrome
Bicuspid aortic valve, Renovascular hypertension, Decreased body weight, Coronary artery stenosis OMIM:602531
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Cardiomyopathy, Portal ... ORPHA:465508
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Small for gestational age, Hypertrophic cardiomyopathy OMIM:616897
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Failure to thrive in infancy, Abnormal heart morphology, Bicuspid aortic va... ORPHA:477817
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction OMIM:208000
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Histiocytoid Cardiomyopathy
Congestive heart failure, Atrial flutter, Hepatomegaly, Wolff-Parkinson-White syndrome, Tachycard... ORPHA:137675
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus OMIM:617751
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Cardiomegaly, Aortic regurgitation, Hypertension, Transient ischemic attack, Hyp... ORPHA:91387
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Loeys-Dietz Syndrome 1
Bicuspid pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve,... OMIM:609192
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Right bundle branch block, Right ventricular hypertro... ORPHA:268
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Loeys-Dietz Syndrome 2
Patent foramen ovale, Bicuspid pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus, ... OMIM:610168
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility ORPHA:158687
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy OMIM:619259
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal... ORPHA:371428
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Peters Plus Syndrome
Abnormal cardiac septum morphology, Bicuspid pulmonary valve, Pulmonic stenosis, Patent ductus ar... ORPHA:709
Fucosidosis
Cardiomegaly, Failure to thrive, Hepatomegaly ORPHA:349
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Failure to thrive, Ventricular septal defect, Double outlet right ventricle OMIM:616652
3Q29 Microdeletion Syndrome
Failure to thrive, Subvalvular aortic stenosis, Pulmonary arterial hypertension, Patent ductus ar... ORPHA:65286
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defec... OMIM:614114
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Obesity, Ventricular septal defect OMIM:620511
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Cardiom... OMIM:614921
Truncus Arteriosus
Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal heart valve morp... ORPHA:3384
Squalene Synthase Deficiency
Bicuspid aortic valve, Failure to thrive in infancy OMIM:618156
Contractural Arachnodactyly, Congenital
Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ven... OMIM:121050
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Glycogen Storage Disease Ii
Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Splenomega... OMIM:232300
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pulmonary arterial hypertension, Pulmonic stenosis, Facial telangiectasia, Hepatosp... OMIM:602782
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1517
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonic stenosis, Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot... ORPHA:261552
Congenital Tracheomalacia
Patent ductus arteriosus, Pulmonary arterial hypertension, Failure to thrive, Abnormal heart morp... ORPHA:95430
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Abnormal heart morphology, Tetralogy... ORPHA:261537
Mowat-Wilson Syndrome
Decreased body weight, Aortic valve stenosis, Pulmonic stenosis, Abnormal heart morphology, Tetra... ORPHA:2152
Koolen-De Vries Syndrome
Pulmonic stenosis, Failure to thrive, Patent ductus arteriosus, Bicuspid aortic valve, Atrial sep... OMIM:610443
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Mitral regurgitation, Left ventricular hypertrophy OMIM:617168
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation OMIM:620306
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Eunuchoid habitus, Mucosal telangiectasiae ORPHA:2463
Syndromic Diarrhea
Hepatomegaly, Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Splenomegaly,... ORPHA:84064
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ven... ORPHA:457279
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomegaly ORPHA:228308
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Arrhythmia, Cardiomegaly, Antenatal intracerebral hemorrhage, Dila... OMIM:608836
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Partial anomalous... OMIM:265380
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, ... ORPHA:365
Kleefstra Syndrome
Obesity, Tetralogy of Fallot, Arrhythmia, Bicuspid aortic valve, Ventricular septal defect ORPHA:261494
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased body weight, Hepatosplenomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Pulmonic stenosis, Obesity, Patent ductus arteriosus, Bicuspid aortic va... OMIM:620654
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Bundle branch block, Third... OMIM:151100
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Hypertrophic cardi... OMIM:252500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, S... OMIM:300707
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Aortic valve stenosis, Obesity, Patent ductus arteriosus, Atrial sep... OMIM:601803
Noonan Syndrome 2
Atrioventricular canal defect, Patent foramen ovale, Cardiomyopathy, Hypertrophic cardiomyopathy,... OMIM:605275
Distal Deletion 15Q
Patent ductus arteriosus, Failure to thrive, Hypoplastic left heart, Double outlet right ventricl... ORPHA:1596
X Small Rings
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect ORPHA:96201
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric... OMIM:610759
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Failure to thrive, Abnormal heart morphology, Bicuspid aortic valv... ORPHA:453499
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, S... OMIM:300967
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Patent foramen ovale, Decreased body weight, Tricuspid regurgitation, Retina... OMIM:620371
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypertension, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aor... OMIM:611962
Fucosidosis
Cardiomegaly, Failure to thrive, Hepatomegaly, Splenomegaly OMIM:230000
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Secundum atrial septal defect, Patent ductus arteriosus, Bicuspi... OMIM:613355
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus OMIM:130720
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Pulmonic stenosis, Abnormal heart morphology, Atrial ... ORPHA:97360
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Reduced left ventricular ejection fraction, Abnor... ORPHA:581
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Bohring-Opitz Syndrome
Cardiomegaly, Severe failure to thrive, Bradycardia, Abnormal cardiac septum morphology ORPHA:97297
Proximal Renal Tubular Acidosis
Failure to thrive, Subvalvular aortic stenosis, Hypovolemia ORPHA:47159
Abetalipoproteinemia
Cardiomegaly, Congestive heart failure, Hepatomegaly, Failure to thrive ORPHA:14
Degcags Syndrome
Hepatomegaly, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonary arterial hypertension, ... OMIM:619488
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Aortic regurgitation, Subvalvular aortic stenosis ORPHA:1052
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Aortic regurgitation, Tr... ORPHA:508498
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Aortic valve atresia, Hypertension, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Fa... OMIM:220111
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Transposition of the great arteries, Hepatomegaly, Tetralogy of Fallot... OMIM:280000
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus ORPHA:96191
Intellectual Developmental Disorder, X-Linked 112
Bicuspid aortic valve, Abnormal heart morphology OMIM:301111
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Pulmonic stenosis, Slender build, Abnormal heart morphology, Bicuspid aortic valv... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Pulmonic stenosis, Slender build, Abnormal heart morphology, Bicuspid aortic valv... ORPHA:363958
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Systolic heart murmur, Failure to th... OMIM:619991
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Splenomegaly, Cardi... OMIM:620376
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Cerebral hemorrhage, Bicuspid aortic valve, Antenatal intracerebral hemorrhage, Sub... ORPHA:536545
Frontometaphyseal Dysplasia 2
Pulmonic stenosis, Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus OMIM:617137
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Decreased body weight, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mi... OMIM:271640
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect OMIM:301030
Marfan Syndrome
Congestive heart failure, Tricuspid valve prolapse, Aortic regurgitation, Mitral annular calcific... OMIM:154700
Chime Syndrome
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... ORPHA:3474
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Tricuspid regurgitation, Failure to th... OMIM:612289
Williams Syndrome
Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid... ORPHA:904
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Yunis-Varon Syndrome
Severe failure to thrive, Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Renovasc... ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Hepatomegaly, Failure to thrive, Splenomegaly, Arrhythmia, Cardiomegaly OMIM:256040
Loeys-Dietz Syndrome 6
Bicuspid aortic valve, Ventricular hypertrophy, Transient ischemic attack OMIM:619656
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Raynaud phenomenon, Hypertrophic cardiomyopathy ORPHA:51
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Obesity, Prolonged QT interval, Tachycardia ORPHA:1772
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Ventricular hypertrophy, Hypertension, Transient ischemic ... ORPHA:51608
Beckwith-Wiedemann Syndrome
Large for gestational age, Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopa... ORPHA:116
Loeys-Dietz Syndrome 3
Aortic regurgitation, Patent ductus arteriosus, Atrial fibrillation, Ventricular hypertrophy, Pul... OMIM:613795
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Pulmonic stenosis, Abnormal heart morphology, Patent ductus arteriosus, Bic... ORPHA:438213
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Portal ... OMIM:619503
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Hypertension, Portal hypertension, Coronary artery stenosis... OMIM:194050
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ... OMIM:607872
Wiedemann-Rautenstrauch Syndrome
Dysplastic pulmonary valve, Pulmonic stenosis, Failure to thrive, Congenital malformation of the ... ORPHA:3455
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Patent foramen ovale, Decreased b... OMIM:616462

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 Vgll4

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 Vgll4.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Skeletal muscle phenotyping of Hippo gene-mutated mice reveals that Lats1 deletion increases the percentage of type I muscle fibers. Transgenic research (January 2022) Vgll4tm1b(EUCOMM)Hmgu PMC8993742
VGLL4 promotes osteoblast differentiation by antagonizing TEADs-inhibited Runx2 transcription. Science advances (October 2020) Vgll4tm1c(EUCOMM)Hmgu Vgll4tm1a(EUCOMM)Hmgu Vgll4tm1b(EUCOMM)Hmgu PMC7608831
Dual function of VGLL4 in muscle regeneration. The EMBO journal (July 2019) Vgll4tm1c(EUCOMM)Hmgu Vgll4tm1a(EUCOMM)Hmgu 31328806

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vgll4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Vgll4tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Vgll4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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