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Gene: Vcl MGI:98927

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
vinculin
Synonyms:
metavinculin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Vcl mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... OMIM:115197
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... ORPHA:1329
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... ORPHA:272
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Meningocele, Duodenal stenosis, Ab... ORPHA:1759
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... ORPHA:860
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, Spina bifida, Myelomeningoce... ORPHA:2437
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Alg3-Cdg
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Neural tube defect, Ca... ORPHA:79321
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Joubert Syndrome 15
Exencephaly OMIM:614464
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... OMIM:602668
Mosaic Trisomy 9
Ventriculomegaly, Ventricular septal defect, Rocker bottom foot, Spina bifida, Micromelia, Campto... ORPHA:99776
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Facial palsy, Spinal dysraphism, Calvarial skull defect ORPHA:1114
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle w... OMIM:616479
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Hand polydactyly... ORPHA:220493
Ritscher-Schinzel Syndrome 1
Syndactyly, Anal atresia, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle... OMIM:220210
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Sho... ORPHA:1908
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... OMIM:615351
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Short stature, Dextrocardia, Situs inversus totalis, Hydrocephalus, Myelomeningoce... OMIM:613686
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteri... OMIM:218350
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Short Stature-Wormian Bones-Dextrocardia Syndrome
Short stature, Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus, High palate, Anal... ORPHA:2863
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Abnormal cardiac septum morphology, Facial hypotonia, First degree atriovent... ORPHA:589821
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Flat occiput, Optic nerve hypoplasia, Brachycephaly, Lateral ventricle dila... OMIM:618736
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,... OMIM:173800
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... ORPHA:980
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, P... OMIM:264480
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterio... OMIM:617751
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Diabetic Embryopathy
Frontal bossing, Ventricular septal defect, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wa... ORPHA:1926
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion ORPHA:1666
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr... OMIM:314390
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Brachycephaly, High palate, Atrial septal defe... OMIM:201000
Limb Body Wall Complex
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of th... ORPHA:2369
Craniosynostosis 6
Bicoronal synostosis, Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocep... OMIM:616602
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Craniosynostosis, Pyloric stenosis, Cleft palate, ... ORPHA:261197
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Calvarial skull defect, Patent ductus arteriosus, Hydrocep... ORPHA:1571
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft pala... OMIM:313850
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Atrial septal defect, Frontal bossing, Ventricular septal defect, Rocker bottom foot, ... OMIM:612582
Houge-Janssens Syndrome 3
Frontal bossing, Muscular ventricular septal defect, Plagiocephaly, High palate, Atrial septal de... OMIM:618354
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Sagittal craniosynostosis, Trigonocephaly, Hydrocephalus, Scaphocephaly, Small han... ORPHA:459061
Fg Syndrome Type 1
High palate, Atrial septal defect, Finger syndactyly, Short stature, Malrotation of colon, Clinod... ORPHA:93932
Marden-Walker Syndrome
Decreased muscle mass, Arachnodactyly, Dextrocardia, Postnatal growth retardation, High, narrow p... OMIM:248700
Osteopathia Striata-Cranial Sclerosis Syndrome
Frontal bossing, Flat occiput, Severe short stature, Facial palsy, Facial hyperostosis, High, nar... ORPHA:2780
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Kleefstra Syndrome Due To A Point Mutation
Anal atresia, Short stature, Tapered finger, Brachycephaly, Abnormal heart morphology, Plagioceph... ORPHA:261652
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Arrhythmia ORPHA:480864
Cooper-Jabs Syndrome
Frontal bossing, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic her... ORPHA:1488
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval, Skeletal muscle atrophy OMIM:312750
Congenital Sialidosis Type 2
Abnormal EKG, Abnormal heart morphology, Telangiectasia ORPHA:93400
Chromosome 13Q33-Q34 Deletion Syndrome
Brachycephaly, Anteriorly placed anus, High palate, Distally placed thumb, Dandy-Walker malformat... OMIM:619148
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly OMIM:119580
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Frontal bossing, Abnormal mitral valve morphology, Short stature, Brachycep... ORPHA:1292
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Submucous cleft hard palate, Spinal dysraphism, Hypoplastic left heart, Aortic val... OMIM:617660
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Cranial asymmetry, Optic nerve hypoplasia, Pulmonic stenosis ORPHA:137634
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... OMIM:232300
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly OMIM:619576
Hemimegalencephaly
Cranial asymmetry, Optic atrophy, Ventriculomegaly ORPHA:99802
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... OMIM:614416
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Marden-Walker Syndrome
Skeletal muscle atrophy, Severe short stature, Arachnodactyly, Camptodactyly of finger, Ventricul... ORPHA:2461
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Atrial septal defect, Sup... ORPHA:97214
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Patent ductus arteriosus, Hydrocephalus, Cranial asymmetry, Scaphocephaly, Growth ... OMIM:614886
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Tapered finger, Short toe, Hydrocephalus, Cleft palate, Abnormal heart mor... OMIM:239300
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Alagille Syndrome
Hypoplasia of the ulna, Atrial septal defect, Frontal bossing, Ventricular septal defect, Telangi... ORPHA:52
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Cleft palate, Abnormal heart ... ORPHA:453499
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy OMIM:619322
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Primary Pulmonary Hypoplasia
Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Patellar hypoplas... ORPHA:2257
Distal Deletion 3P
Short stature, Postaxial hand polydactyly, Brachycephaly, Cleft palate, High palate, Clinodactyly... ORPHA:1620
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Short stature, Intestinal malrotation, P... OMIM:619657
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Frontal bossing, Tricuspid regurgitation, Dextrocardia, High palate, Atrioventricular canal defect OMIM:618929
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Broad hallux, Shortening of all distal phalanges of the fin... OMIM:614749
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft palate, Hand polydactyly, Talipes equinovarus, Ectopia cordis OMIM:217100
Opitz-Kaveggia Syndrome
Multiple joint contractures, Anteriorly placed anus, Prominent fingertip pads, Syndactyly, Broad ... OMIM:305450
Semilobar Holoprosencephaly
Short stature, Proboscis, Hydrocephalus, Flexion contracture, Cleft palate, Abnormal heart morpho... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Proboscis, Hydrocephalus, Flexion contracture, Cleft palate, Abnormal heart morpho... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Proboscis, Hydrocephalus, Flexion contracture, Cleft palate, Abnormal heart morpho... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Proboscis, Hydrocephalus, Flexion contracture, Cleft palate, Abnormal heart morpho... ORPHA:93924
Chromosome 15Q25 Deletion Syndrome
Flat occiput, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short sta... OMIM:614294
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Carpenter Syndrome 2
High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion contracture, Cu... OMIM:614976
Johanson-Blizzard Syndrome
Short stature, Dextrocardia, Malabsorption, Anteriorly placed anus, Abnormal cardiac septum morph... ORPHA:2315
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexi... OMIM:207410
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Brachycephaly, Tibial bowing, Short palm, ... ORPHA:175
Apert Syndrome
Brachycephaly, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, Bifid uvula, Synos... OMIM:101200
Catel-Manzke Syndrome
Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metacarpal, Overrid... OMIM:616145
Neurooculorenal Syndrome
Dextrocardia, Short hallux, Intestinal malrotation, Aqueductal stenosis, Postnatal growth retarda... OMIM:620305
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, ... ORPHA:185
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palat... OMIM:619227
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Baller-Gerold Syndrome
Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida occulta, Bi... OMIM:218600
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Congenital diaphrag... OMIM:618280
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... OMIM:614008
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Absent thumb, ... ORPHA:96097
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hypertension, Dextrocardia, Midface retrusion OMIM:613095
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, Long fingers, High, narrow palate, Abnormal heart morpho... ORPHA:96092
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Torticollis, Spina bifida, Tapered finger, Patent ductus arteriosus, Plagiocepha... OMIM:619480
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Ventriculomegaly, Optic nerve hypoplasia, Postaxial polydactyly, ... OMIM:605627
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... ORPHA:308552
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... OMIM:170390
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Short stature, Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Ta... OMIM:277380
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis ORPHA:94090
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Tetrasomy 9P
Myositis, Pericarditis, Abnormal mitral valve morphology, Dextrocardia, Median cleft lip and pala... ORPHA:3310
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, C... ORPHA:2911
Iniencephaly
Encephalocele, Anal atresia, Rhizomelia, Rocker bottom foot, Spina bifida, Congenital diaphragmat... ORPHA:63259
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Micromelia, Abnormal heart valve morphology, Situs inver... ORPHA:289
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Arachnodactyly, Dextrocardia, Cerebral hemorrhage... ORPHA:536545
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Atrial septal defect, Contracture of the proxi... OMIM:300166
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... ORPHA:358
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... ORPHA:79102
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Schinzel-Giedion Syndrome
Frontal bossing, Overlapping fingers, Overlapping toe, Aganglionic megacolon, Tibial bowing, Abno... ORPHA:798
Thrombocytopenia-Absent Radius Syndrome
Brachycephaly, Femoral bowing, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventric... OMIM:274000
Weill-Marchesani Syndrome 2
Broad skull, Short metatarsal, Brachycephaly, High palate, Broad metacarpals, Short metacarpal, S... OMIM:608328
Meacham Syndrome
Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal defect, Dextrocardi... OMIM:608978
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia ORPHA:2131
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, High, narrow pal... ORPHA:1101
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am... ORPHA:66634
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Short stature, Metatarsus adductus, Patent ductus ar... OMIM:611962
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... ORPHA:466650
Peters Plus Syndrome
Micromelia, Bicuspid pulmonary valve, Brachycephaly, Clinodactyly of the 5th finger, Spina bifida... ORPHA:709
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Abnormal T-wave, Limb h... ORPHA:444072
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... OMIM:617403
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Right bundle branch block, Mitral regurgitati... OMIM:617506
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Holoprosencephaly 7
Frontal bossing, Bilateral cleft palate, Flat occiput, Median cleft lip and palate, Alobar holopr... OMIM:610828
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... ORPHA:373
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Restrictive Dermopathy
Multiple joint contractures, Camptodactyly of finger, Dextrocardia, Large placenta, Patent ductus... ORPHA:1662
Ring Chromosome 7 Syndrome
Short stature, Situs inversus totalis, Small hand, Brachycephaly, Heart murmur, Genu valgum, Plag... ORPHA:1449
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Inte... OMIM:270100
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Brachycephaly, Neonatal death, Atrial septal defec... OMIM:265380
Down Syndrome
Brachycephaly, Short palm, Atrial septal defect, Atrioventricular canal defect, Patent foramen ov... OMIM:190685
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Knee flexion contracture, Right bundle branch bloc... OMIM:617402
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Floating-Harbor Syndrome
Atrial septal defect, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short s... OMIM:136140
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... ORPHA:3385
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... ORPHA:273
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension, Flexion contracture, Camptodactyly OMIM:620029
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Torticollis, Cranial asymmetry, Camptodactyly of 2nd-5th fingers... OMIM:609128
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Roberts-Sc Phocomelia Syndrome
Brachycephaly, Knee flexion contracture, High palate, Atrial septal defect, Wrist flexion contrac... OMIM:268300
Wiedemann-Rautenstrauch Syndrome
Congenital malformation of the left heart, Long toe, Short stature, Cranial asymmetry, 2-3 toe sy... ORPHA:3455
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis ORPHA:94089
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Floating-Harbor Syndrome
Short metacarpal, Brachydactyly, Short stature, Avascular necrosis of the capital femoral epiphys... ORPHA:2044
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis ORPHA:79444
Schimmelpenning-Feuerstein-Mims Syndrome
Short stature, Abnormal toe morphology, Cranial asymmetry, Abnormal finger morphology, Growth delay OMIM:163200
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Calcinosis ORPHA:79443
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... ORPHA:1772
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Flexion contracture, Camptodactyly ORPHA:86309
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99226
Multiple Endocrine Neoplasia Type 1
Melena, Hypertension, Shortened QT interval, Hematemesis ORPHA:652
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154

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 Vcl

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 Vcl.

No publications found that use IMPC mice or data for Vcl.

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
Vcltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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