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Gene: Vgll4 MGI:2652840

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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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
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Loeffler Endocarditis
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Ethanolaminosis
Cardiomegaly OMIM:227150
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect OMIM:618496
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, Patent ductus ... OMIM:615382
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... ORPHA:228410
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation ORPHA:3449
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Pulmonic stenosis, Mitral regurg... OMIM:616201
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Failure to thrive, Weight loss, Aortic valve stenosis OMIM:143880
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Failure to thrive, Pulmonic stenosis, Tetralogy of Fallot, Ventric... OMIM:601127
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, ... OMIM:615415
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... ORPHA:324410
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis OMIM:261560
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis OMIM:248950
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Craniosynostosis 1
Systolic heart murmur, Aortic valve stenosis OMIM:123100
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis OMIM:220220
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mit... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Epis... OMIM:193400
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... OMIM:620067
Familial Bicuspid Aortic Valve
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Small for gestational age, Patent ductus arteriosus,... OMIM:613355
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Mend Syndrome
Aortic valve stenosis OMIM:300960
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Failure to thrive, Bicuspid aortic valve, Aortic valve stenosis OMIM:243310
Bardet-Biedl Syndrome 2
Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Hypertension, Pulmonary ... OMIM:230800
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Aortic valve stenosis ORPHA:75496
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:609029
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Cardiomegaly, Cardiomyopathy, Atrioventricular block ORPHA:85447
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, S... OMIM:267010
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic valve stenosis, Aortic regurgit... OMIM:619698
Monosomy 18Q
Absence of the pulmonary valve, Slender build, Failure to thrive, Aortic valve stenosis, Secundum... ORPHA:1600
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Failure to thrive, Aortic valve stenosis, Tetralogy of Fallot... ORPHA:96147
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... OMIM:601808
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy OMIM:250951
Geleophysic Dysplasia 2
Mitral stenosis, Hepatomegaly, Aortic valve stenosis, Tricuspid stenosis, Mitral regurgitation, M... OMIM:614185
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Emanuel Syndrome
Failure to thrive, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular se... ORPHA:96170
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... OMIM:619433
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Aortic regurgitation, Ventricular hypertroph... OMIM:208050
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Patent ductu... ORPHA:2306
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... OMIM:115197
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Bicuspid aortic valve, Atrial septal defect OMIM:617744
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Patent ductus arteriosus, Transposition of the great arteries, Truncus art... OMIM:612474
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... ORPHA:363618
Trisomy 17P
Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart ORPHA:261290
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Bicuspid aortic valve, Aortic valve stenosis OMIM:614501
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Patent... OMIM:277600
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Hepatomegaly OMIM:253010
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Pulmo... OMIM:100300
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiom... OMIM:212140
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Infantile Sialic Acid Storage Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Cardiomegaly, Congestive heart failure OMIM:269920
Supravalvular Aortic Stenosis
Pulmonic stenosis, Supravalvular aortic stenosis OMIM:185500
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... ORPHA:57777
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis ORPHA:2780
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Subaortic Stenosis-Short Stature Syndrome
Obesity, Subvalvular aortic stenosis, Arrhythmia, Membranous subvalvular aortic stenosis ORPHA:3191
Sneddon Syndrome
Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Enlarged kidney, Situs i... OMIM:208540
Anauxetic Dysplasia 1
Aortic valve stenosis OMIM:607095
Geleophysic Dysplasia 1
Mitral stenosis, Hepatomegaly, Aortic valve stenosis, Tricuspid stenosis, Congestive heart failure OMIM:231050
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated car... OMIM:300257
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Palpitations, Partial diaphragmatic... ORPHA:2847
Progeroid Short Stature With Pigmented Nevi
Bicuspid aortic valve, Aortic valve stenosis, Small for gestational age OMIM:176690
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Decreased body weight, Dysplastic pulmonary valve OMIM:300958
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmona... ORPHA:2414
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Aortic valve stenosis, Small for gestational age, Ventricular septal defect, A... ORPHA:464311
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Sc phocomelia syndrome
Aortic valve stenosis OMIM:269000
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Patent... OMIM:608328
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopathy, O... ORPHA:401923
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Mitral regurgitation, Bicuspid aortic valve, Aortic valve stenosis OMIM:613563
Noonan Syndrome 8
Failure to thrive, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral ... OMIM:615355
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Large for gestational age, Paten... OMIM:239850
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Hypertroph... OMIM:615279
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Aortic valve stenosis, Small for gestational age, Ventricular septal defect, A... ORPHA:464306
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Hutchinson-Gilford Progeria Syndrome
Mitral stenosis, Abnormal mitral valve morphology, Aortic valve calcification, Angina pectoris, A... ORPHA:740
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatosplenomegaly OMIM:618955
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Ve... ORPHA:284169
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Teebi-Shaltout Syndrome
Ventricular septal defect, Aortic valve stenosis OMIM:272950
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:96121
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Mend Syndrome
Failure to thrive, Aortic valve stenosis, Abnormal heart morphology ORPHA:401973
Chromosome 2Q37 Deletion Syndrome
Obesity, Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... ORPHA:1120
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Failure to thrive, Atrial septal defect, P... OMIM:619343
Hajdu-Cheney Syndrome
Mitral stenosis, Failure to thrive, Aortic valve stenosis, Hepatomegaly, Splenomegaly, Ventricula... ORPHA:955
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Mitral stenosis, Aortic valve stenosis, Tricuspid regurgitation, Tricuspid stenosis, Pulmonic ste... OMIM:143095
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Hypotension, Shortened PR interval, Biventricular hypertrophy, Cardiomy... OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Myhre Syndrome
Atrial septal defect, Aortic valve stenosis, Small for gestational age, Ventricular septal defect... OMIM:139210
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Failure to thrive, Subvalvular aortic stenosis OMIM:619461
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, C... ORPHA:99931
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Pulmonary arterial hypertension, Aortic valve stenosis ORPHA:2396
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... OMIM:612863
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... OMIM:235200
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure OMIM:253250
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormal pulmonary valve morphology, Aortic valve stenosis, Small for gestational age, Ventricula... ORPHA:268261
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal left ventricular function, Aortic regur... OMIM:132900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hyp... ORPHA:308552
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, Aortic regurgitation OMIM:619825
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Patent ductus arteriosus, Bic... OMIM:609192
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Failure to thrive, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Pulmonic s... ORPHA:353281
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Singleton-Merten Syndrome 1
Aortic valve calcification, Decreased body weight, Aortic valve stenosis, Mitral valve calcificat... OMIM:182250
Microphthalmia, Syndromic 2
Double outlet right ventricle, Decreased body weight, Aortic valve stenosis, Atrial septal defect... OMIM:300166
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Patent ductus arteriosus, Patent foram... OMIM:615009
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Familial Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic regurgitation ORPHA:229
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Aortic valve stenosis, Atrial septal defect ORPHA:536471
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly OMIM:255120
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Small for gestational age OMIM:613320
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Failure to thrive, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart OMIM:619721
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... ORPHA:500159
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Arrhythmia, Hepatomegaly, Cardiomegaly ORPHA:42
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Failure to thrive, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent... ORPHA:329224
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart ORPHA:2308
Grange Syndrome
Bicuspid aortic valve, Decreased body weight, Renovascular hypertension, Coronary artery stenosis OMIM:602531
Double Outlet Right Ventricle
Double outlet right ventricle, Failure to thrive, Hypoplastic left heart, Pulmonic stenosis, Tach... ORPHA:3426
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Splenomegal... ORPHA:2729
Atypical Werner Syndrome
Telangiectasia of the skin, Aortic valve calcification, Decreased body weight, Aortic valve steno... ORPHA:79474
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Mungan Syndrome
Pulmonic stenosis, Hypoperistalsis, Tricuspid regurgitation, Perimembranous ventricular septal de... OMIM:611376
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Elevated jugular venous pressure, Portal hypertension, We... ORPHA:465508
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus OMIM:617751
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly OMIM:105210
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Failure to thrive, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Pulmonic s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Failure to thrive, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Pulmonic s... ORPHA:353277
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Tetralogy of Fallot OMIM:618780
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... ORPHA:980
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... OMIM:616028
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Squalene Synthase Deficiency
Bicuspid aortic valve, Failure to thrive in infancy OMIM:618156
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Patent ductus arteriosus, Bic... OMIM:610168
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, ... ORPHA:91387
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Aortic Valve Disease 2
Bicuspid aortic valve OMIM:614823
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale OMIM:618027
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Small for gestational age OMIM:616897
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:371428
Peters Plus Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Pulmonic stenosis, Patent ductus arte... ORPHA:709
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... ORPHA:137675
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Reduced left ventricular ejection fraction, Abnormal EKG, Right bu... ORPHA:268
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Mit... OMIM:121050
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Small for gestational age, Ventricular septal defect, Aortic regurgitation,... OMIM:614114
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Failure to thrive, Subvalvular aortic stenosis, Patent ductus ar... ORPHA:65286
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:619259
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Fucosidosis
Failure to thrive, Hepatomegaly, Cardiomegaly ORPHA:349
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... ORPHA:3384
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Cardiomyopathy, Cardiomegaly, Hypovolemic shock ORPHA:158687
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Subarachnoid he... OMIM:232300
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Tachycardia, Ventricular septal defect, Pulmonary arterial hy... OMIM:614921
Aortic Aneurysm, Familial Thoracic 10
Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... OMIM:602782
Syndromic Diarrhea
Bicuspid aortic valve, Hepatomegaly, Atrial septal defect, Splenomegaly, Small for gestational ag... ORPHA:84064
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abn... ORPHA:457279
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly ORPHA:1517
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Sickle Cell Anemia
Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Small for gestational age OMIM:300707
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Atr... OMIM:265380
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Koolen-De Vries Syndrome
Failure to thrive, Bicuspid aortic valve, Atrial septal defect, Small for gestational age, Pulmon... OMIM:610443
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect OMIM:619720
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia ORPHA:96129
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect OMIM:613001
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pulmonary valve morphology, Failure to thrive, Bicuspid aortic valve, Aortic valve steno... ORPHA:261552
Kleefstra Syndrome
Bicuspid aortic valve, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect, Obesity ORPHA:261494
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal pulmonary valve morphology, Failure to thrive, Bicuspid aortic valve, Aortic valve steno... ORPHA:261537
Congenital Tracheomalacia
Failure to thrive, Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septa... ORPHA:95430
Mowat-Wilson Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Decreased body weight, Aortic valve st... ORPHA:2152
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Double inlet right ventricle, Atrial septal defect, Hypoplastic le... OMIM:619702
Friedreich Ataxia And Congenital Glaucoma
Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormal EKG, Hyper... OMIM:229310
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis ORPHA:96201
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:610759
Subaortic Stenosis--Short Stature Syndrome
Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis OMIM:271960
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Eunuchoid habitus, Cardiomegaly ORPHA:2463
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Cardiomyopathy, Cardiomegaly ORPHA:228308
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... OMIM:601992
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Arrhythmia, Enlarged kidney, Dilated cardiomyopathy, Antenatal intracerebral hemorr... OMIM:608836
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa ORPHA:79280
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Failure to thrive, Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ve... ORPHA:453499
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Mitral regurgitation, Mitral valve prolapse, Aortic regurgitation, Patent ... OMIM:611962
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hyp... ORPHA:365
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Gaucher Disease, Perinatal Lethal
Decreased body weight, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:608013
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Loeys-Dietz Syndrome 4
Mitral valve prolapse, Bicuspid aortic valve OMIM:614816
Leopard Syndrome 1
Bundle branch block, Pulmonic stenosis, Third degree atrioventricular block, Subvalvular aortic s... OMIM:151100
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... ORPHA:1596
Lateral Meningocele Syndrome
Bicuspid aortic valve, Patent ductus arteriosus OMIM:130720
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Hepatomegaly, Splenomegaly, Mitral regurgitation, Enlarged kidney, Heart murmu... OMIM:252500
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total ab... OMIM:600001
Robinow Syndrome
Tricuspid atresia, Pulmonary valve atresia, Atrial septal defect, Small for gestational age, Pulm... ORPHA:97360
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Slender build, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventric... OMIM:300967
Pallister-Killian Syndrome
Aortic valve stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... OMIM:601803
Ogden Syndrome
Torsade de pointes, Bicuspid aortic valve, Premature atrial contractions, Secundum atrial septal ... OMIM:300855
Degcags Syndrome
Failure to thrive, Hepatomegaly, Atrial septal defect, Dysplastic pulmonary valve, Small for gest... OMIM:619488
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal def... ORPHA:508498
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... OMIM:302900
Proximal Renal Tubular Acidosis
Hypovolemia, Subvalvular aortic stenosis, Failure to thrive ORPHA:47159
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Subdural hemorrhage, Cerebral hemorrhage, Dextrocardia, Arterial rupture, ... ORPHA:536545
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Frontometaphyseal Dysplasia 2
Pulmonic stenosis, Bicuspid aortic valve, Patent ductus arteriosus, Patent foramen ovale OMIM:617137
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Splenomegaly, Abnormal ao... ORPHA:581
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Bicuspid aortic valve, Atrial septal defect, Small for gestational age, Pulmonic s... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Bicuspid aortic valve, Atrial septal defect, Small for gestational age, Pulmonic s... ORPHA:363958
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Decreased body weight, Atrial septal defect, Mitral regurgitation, Ventric... OMIM:271640
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Severe failure to thrive, Cardiomegaly, Bradycardia ORPHA:97297
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Subvalvular aortic stenosis, Atrial septal defect ORPHA:1052
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Tricuspid regurgit... OMIM:154700
Abetalipoproteinemia
Failure to thrive, Hepatomegaly, Cardiomegaly, Congestive heart failure ORPHA:14
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary valve atresia, Atrial septal defect OMIM:301030
Liver Disease, Severe Congenital
Failure to thrive, Abnormal left ventricular function, Hepatomegaly, Atrial septal defect, Spleno... OMIM:619991
Chime Syndrome
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... ORPHA:3474
Fontaine Progeroid Syndrome
Failure to thrive, Bicuspid aortic valve, Atrial septal defect, Tricuspid regurgitation, Small fo... OMIM:612289
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Cardiomegaly ORPHA:96191
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Heart murmur, Ventricular septal... OMIM:619475
Williams Syndrome
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... ORPHA:904
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnormal heart morphology ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnormal heart morphology ORPHA:352665
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity, Bicuspid aortic valve, Tachycardia, Prolonged QT interval ORPHA:1772
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mit... OMIM:613795
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Hepatomegaly, Splenomegaly, Arrhythmia, Cardiomegaly, Congestive heart failure OMIM:256040
Williams-Beuren Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Myxomatous ... OMIM:194050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... ORPHA:438213
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Nonc... OMIM:607872
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Raynaud phenomenon ORPHA:51
Yunis-Varon Syndrome
Atrial septal defect, Severe failure to thrive, Tetralogy of Fallot, Renovascular hypertension, V... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Weak pulse, Myocardial calcification, Retinal hemorrhage, Failure to thrive in infancy, Left vent... ORPHA:51608
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Myocardial infarction, Obesi... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Myocardial infarction, Obesi... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Myocardial infarction, Obesi... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Myocardial infarction, Obesi... ORPHA:99226
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hepatomegaly OMIM:218330
Wiedemann-Rautenstrauch Syndrome
Slender build, Failure to thrive, Dysplastic pulmonary valve, Pulmonic stenosis, Congenital malfo... ORPHA:3455
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Large for gestational age, Visceromegaly, Obesity, H... ORPHA:116
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Double outlet right ventricle, Failure to thrive, Hypoplastic left heart, Muscular ventricular se... OMIM:619503
Trichorhinophalangeal Syndrome, Type Ii
Partial anomalous pulmonary venous return, Bicuspid aortic valve, Myocardial infarction, Right ve... OMIM:150230
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 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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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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