Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tolloid-like
Synonyms:
Tll-1,  b2b2476Clo

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Tll1 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 Tll1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tll1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... OMIM:231060
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... OMIM:600884
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... ORPHA:2041
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Lethal Congenital Contracture Syndrome 10
High palate, Torticollis, Narrow palate, Hypoplasia of the thymus, Ventricular septal defect, Ove... OMIM:617022
Catel-Manzke Syndrome
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Camptodactyly, Ventricular septal ... OMIM:616145
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Pallor, Paroxysmal atrial tachycardia, Ventricular septal defect, C... ORPHA:49827
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Hepatomegaly, Hydrops fetalis, Pulmonary ... ORPHA:90308
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:3304
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Over... OMIM:601927
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis OMIM:619608
Neurocardiofaciodigital Syndrome
Double inlet left ventricle, Patent ductus arteriosus, Tetralogy of Fallot, Atrial septal defect OMIM:619869
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... OMIM:618052
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... ORPHA:99095
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left ventricu... ORPHA:99050
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... OMIM:614954
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 4
Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... OMIM:115197
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Hypoplastic left heart, Cleft palate, Intestin... ORPHA:3426
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Muscular ventricular septal defect OMIM:620062
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... OMIM:605676
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Cutis laxa, Mitral regurgitation, Short chordae t... OMIM:314400
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... ORPHA:477817
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Situs inver... OMIM:605376
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... OMIM:220210
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Stroke, Absent ankle pulse, Pallor, Myocardial infarction, Abnormal... ORPHA:90064
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Left ventricular noncompaction, Atrial standstill, Mo... ORPHA:1344
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation of aorta, Biven... ORPHA:101028
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... ORPHA:363705
Fanconi Anemia, Complementation Group Q
Biliary atresia, Primum atrial septal defect OMIM:615272
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Congestive heart fai... OMIM:618234
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypert... OMIM:617021
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Anomalous pulmonary venous return, Stroke, Atrial arrhythmia, Systol... ORPHA:99105
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Atrioventricular canal def... OMIM:619534
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Stroke-like e... ORPHA:563
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pallor, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Congestive ... ORPHA:163596
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Pseudoxanthoma Elasticum
Mitral stenosis, Angina pectoris, Intermittent claudication, Stroke, Cutis laxa, Restrictive card... OMIM:264800
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:1918
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Cryptorchidism, Tetralogy of Fallot OMIM:615542
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Mungan Syndrome
Barrett esophagus, Pulmonic stenosis, Megaduodenum, Intestinal pseudo-obstruction, Perimembranous... OMIM:611376
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... ORPHA:980
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation of aorta, Ventricu... OMIM:600987
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Sandestig-Stefanova Syndrome
High palate, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal... OMIM:618804
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... ORPHA:99094
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Cardiome... OMIM:306955
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Jau... ORPHA:57777
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Stroke, Atrial arrhythmia, Restricti... ORPHA:85451
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pulm... ORPHA:2414
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular s... OMIM:617877
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... OMIM:126320
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Anal atresia, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventricular septal def... ORPHA:363444
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate ORPHA:2515
Grange Syndrome
Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... ORPHA:79094
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Mitral regurgitation, Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... ORPHA:3405
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Pyloric stenosis, Ventricular septal defe... OMIM:614262
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Camptodactyly, Hypothyroidism, Protein-losing enteropathy, Patent ductus arterios... OMIM:608104
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyopathy, Congest... OMIM:613313
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Ventricular septal defect, Pancreatic hypoplasia, Microcolon, Tetral... OMIM:600001
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus, Cleft palate OMIM:601355
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Elevated hepatic transaminase, Polyhydramnios, Patent ductus arteriosus, Pa... OMIM:619967
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure ORPHA:206546
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, ... OMIM:616166
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot ORPHA:251076
Mass Syndrome
Mitral valve prolapse, Ascending aortic dissection, Striae distensae, Aortic aneurysm OMIM:604308
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Atrioventricular canal defect, Hypoplasia of the thymus, Conotr... ORPHA:40366
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal left ventricular function, Supraventricular tachycardia, Sudden cardiac death, Ventricul... ORPHA:300751
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Decreased liver function, Abnormal enzyme/coenzyme activity, Hypertrop... ORPHA:70472
Catel-Manzke Syndrome
Atrial septal defect, Cleft palate, Glossoptosis, Camptodactyly of finger, Ventricular septal defect ORPHA:1388
Mmep Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:3434
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Ventricular septal defect, Hypoplastic left heart, Cleft palate ORPHA:2476
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:137667
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Congestive heart failure, Generalized arterial calcification, Myoca... OMIM:208000
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Ab... ORPHA:1166
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... OMIM:132900
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart fai... OMIM:602390
Diamond-Blackfan Anemia 6
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... OMIM:612561
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... OMIM:601186
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... OMIM:614300
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Pulmo... ORPHA:2326
American Trypanosomiasis
Hepatomegaly, Pallor, Arrhythmia, Myocarditis, Edema, Periorbital edema, Cardiomyopathy, Congesti... ORPHA:3386
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
46,Xx Sex Reversal 5
Increased serum testosterone level, Secundum atrial septal defect, Hypoplastic left heart, Aplasi... OMIM:618901
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death, Congestive heart failure OMIM:301021
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... OMIM:212093
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Nonimmune... ORPHA:367
Infantile Sialic Acid Storage Disease
Hepatomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive heart failure OMIM:269920
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276556
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Stroke, Heart murmur, Dilatation of the sinus of Valsalva, Aortic regurgi... ORPHA:1054
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Myocardial infarction, Hypertension, Hepatic steatosis... OMIM:615703
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... OMIM:212140
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... OMIM:108800
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Dilated cardiomyopathy, Biventricular hypertrophy, Elevated jugular venous ... OMIM:255160
Mitochondrial Complex I Deficiency, Nuclear Type 20
Stroke, Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Dilated... OMIM:611126
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... OMIM:613355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Congestive heart failure ORPHA:796
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... OMIM:243150
Dk1-Cdg
Abnormal enzyme/coenzyme activity, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fi... ORPHA:91131
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Peripheral arteriovenous fistula, Hepatic hemangioma, Prominent super... ORPHA:141179
Hemochromatosis, Type 1
Hepatomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Elevated hepatic transaminase, Ple... OMIM:235200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276575
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Ped... ORPHA:99103
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Wild Type Attr Amyloidosis
Pulmonary edema, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Orthostat... ORPHA:330001
Mitral Valve Prolapse 1
Mitral valve prolapse, Striae distensae, Mitral regurgitation OMIM:157700
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemor... ORPHA:363618
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Tracheoesophageal fistula, Coarctation of aorta, Ventricular se... ORPHA:1923
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276580
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Cleft palate OMIM:616898
Sotos Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Muscular ventricular septa... OMIM:117550
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Bruising susceptibility, Arrhythmia, Mitral valve prolapse, Gastrointestinal hemorrhage, ... ORPHA:230839
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... OMIM:617478
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Ascites, Cardiomega... OMIM:253250
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Diaphragmatic eventration, Hypochromic microcytic anemia, Hyp... ORPHA:66634
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch OMIM:617577
Hadziselimovic Syndrome
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... OMIM:612946
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension OMIM:106700
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... ORPHA:3099
Chromosome 9P Deletion Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Ventricular septal defect,... OMIM:158170
14Q11.2 Microdeletion Syndrome
High palate, Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Hepatic failure, Elevated he... OMIM:614886
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Hypotension, Shortened PR interval, Biventricular hype... OMIM:261740
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Tracheoesophageal fistula, Esophageal atres... OMIM:619227
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot OMIM:618624
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Atrial septal defect, Congestive heart failure ORPHA:500533
Congenital Tracheomalacia
Atrial septal defect, Cutis laxa, Single ventricle, Double aortic arch, Tetralogy of Fallot, Vent... ORPHA:95430
Tetraamelia Syndrome 2
Glossoptosis, Ventricular septal defect, Ankyloglossia, Hypoplastic pulmonary veins OMIM:618021
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Peripheral arteriovenous fistula, Hepatic hemangioma, Prominent super... ORPHA:141184
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:617044
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal aortic v... ORPHA:1194
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Palm... OMIM:615355
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Butyrylcholinesterase Deficiency
Myocardial infarction, Abnormal enzyme/coenzyme activity, Abnormality of the liver, Congestive he... ORPHA:132
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Abnormal le... ORPHA:2729
Xk Aprosencephaly Syndrome
Ventricular septal defect, Anal atresia, Atrial septal defect ORPHA:3469
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re... OMIM:615550
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Dilated cardiomyopathy, Noncompaction car... OMIM:610198
Fabry Disease
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Lymphedema, Ven... OMIM:301500
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Aortic ro... OMIM:609008
Microphthalmia, Syndromic 12
Ventricular septal defect, Cryptorchidism, Congenital diaphragmatic hernia, Hypoplastic left atrium OMIM:615524
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Oligohydramnios, C... OMIM:616866
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Ventricular se... OMIM:309801
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Palpitations, Partial diaphragmatic... ORPHA:2847
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Abnormal left ventricular function, Hepatomegaly, Pulmonic stenosi... OMIM:301056
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... ORPHA:324410
Polymyositis
Abnormal mitral valve morphology, Hepatomegaly, Elevated aldolase level, Arrhythmia, Vasculitis, ... ORPHA:732
Maternal Phenylketonuria
High palate, Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralo... ORPHA:2209
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... ORPHA:244
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, V... OMIM:619343
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Cleft palate, Ventricular septal defect, Abnormal aortic morphology, Truncus... ORPHA:2516
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... OMIM:177850
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Hepatomegaly, Acute hepatic failure, Dehydra... ORPHA:1667
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1913
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... ORPHA:228410
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse, Striae distensae OMIM:130020
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... OMIM:115250
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:619189
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:94066
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Gm1-Gangliosidosis, Type I
Hepatomegaly, Cherry red spot of the macula, Decreased beta-galactosidase activity, Hydrops fetal... OMIM:230500
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:153400
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Acute hepatic failure, Sudden cardiac death, Hepatic steatosis, Increased ... ORPHA:99901
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal def... ORPHA:210122
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension OMIM:613870
X-Linked Intellectual Disability, Nascimento Type
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Dry skin, T... ORPHA:163956
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy,... ORPHA:758
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular failure, Congestive heart failure, Right ventricular hyp... ORPHA:324604
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Renal Tubular Dysgenesis
Polyhydramnios, Oligohydramnios, Tetralogy of Fallot ORPHA:3033
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncu... OMIM:616589
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Card... OMIM:249270
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly ORPHA:46532
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse, Petechiae, Striae distensae, Bruising susceptibility OMIM:225310
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Cutis laxa, Mitral regurgitation, Redundant skin, Ventricul... OMIM:123700
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Cleft palate, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Intermittent thro... OMIM:612541
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1349
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... OMIM:190685
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Hypoparathyroidism, Narrow palate, Atrial septal defect, Decreased... OMIM:618223
Primary Lipodystrophy
Angina pectoris, Cirrhosis, Type IV atherosclerotic lesion, Hypertension, Hepatic steatosis, Card... ORPHA:90970
Tyshchenko Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate, Supernumerar... OMIM:615102
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Hypertension, Myocardial infarction, Congestive heart failure OMIM:614473
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Congestive heart failure OMIM:616794
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... OMIM:130090
Halperin-Birk Syndrome
High palate, Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Flexion c... OMIM:618651
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... OMIM:616564
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Retinitis Pigmentosa 60
Pallor OMIM:613983
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Cirrhosis, ... OMIM:606003
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Hepatomegaly, Cirrhosis, Atherosclerosis, Coronary artery atheroscleros... ORPHA:79083
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Cednik Syndrome
Stroke, Congestive heart failure ORPHA:66631
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Mitral regurgitation, Hepatic cysts, Mitral valve prolapse, Hypertension OMIM:173900
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Noonan Syndrome 11
Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism, Intrinsic hand muscle atrophy, Muscular ventricular septal defect OMIM:618569
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula OMIM:619083
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:601450
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Pulmonary e... ORPHA:137675
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Prolonged prothrombin time, Coarctation of aorta OMIM:616559
African Iron Overload
Abnormal heart morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Hepatocellular ... ORPHA:139507
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... OMIM:608406
Apert Syndrome
Ectopic anus, Narrow palate, Cleft palate, Bifid uvula, Pyloric stenosis, Ventricular septal defe... OMIM:101200
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Feingold Syndrome Type 1
Tricuspid atresia, Anal atresia, Duodenal atresia, Tricuspid stenosis, Patent ductus arteriosus, ... ORPHA:391641
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Retinitis Pigmentosa 81
Pallor OMIM:617871
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... ORPHA:1727
Optic Atrophy 8
Mitral valve prolapse, Mitral regurgitation OMIM:616648
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly ORPHA:99931
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate OMIM:214300
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating alkaline phosphatase concentration, Abnormal pericardium morphology, Pleural... ORPHA:67
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Polyhydramnios, Stillbirth OMIM:263630
Syndromic Diarrhea
Bicuspid aortic valve, Colitis, Gastritis, Atrial septal defect, Lymphopenia, Splenomegaly, Perip... ORPHA:84064
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia OMIM:613686
Optic Atrophy 9
Pallor OMIM:616289
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Atherosclerosis, Coronary artery atherosclerosis, Hypertrophic cardiomyopathy, Hepa... ORPHA:2348
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Diabetic Embryopathy
Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricu... ORPHA:1926
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia ORPHA:3222
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Ventricular sept... OMIM:301040
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... ORPHA:75249
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Trigonocephaly With Short Stature And Developmental Delay
High palate, Ventricular septal defect OMIM:314320
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... ORPHA:1120
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation ORPHA:3449
Simple Cryoglobulinemia
Stroke, Viral hepatitis, Raynaud phenomenon, Vasculitis, Myocardial infarction, Purpura, Acral ul... ORPHA:91139
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Abnormal... ORPHA:290
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Hepatopulmonary fusi... OMIM:618280
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... ORPHA:444013
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Abnormal carotid artery morphology, Redundant skin, Myocarditis, Myoc... ORPHA:3342
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Microscopic Polyangiitis
Subcutaneous hemorrhage, Arrhythmia, Erythema, Vasculitis, Skin ulcer, Gastrointestinal hemorrhag... ORPHA:727
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Chole... OMIM:609015
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Peripheral Cone Dystrophy
Pallor OMIM:609021
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Pulmonic s... OMIM:610205
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Diamond-Blackfan Anemia 5
Leukopenia, Erythroid hypoplasia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia OMIM:612528
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Ventricular septal defect ORPHA:3369
Angioosteohypertrophic Syndrome
Tricuspid valve prolapse, Telangiectasia of the skin, Peripheral arteriovenous fistula, Pulmonary... ORPHA:2346
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Cleft palate, Hypoplasia of the thymus, Camptodactyly, Cryptorchid... OMIM:214110
Dextrocardia
Congenital malformation of the great arteries, Situs inversus totalis, Dextrocardia, T-wave inver... ORPHA:1666
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Supravalvular aortic stenosis, Cutis laxa, Lack of skin ela... ORPHA:90349
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Edema OMIM:607598
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis, Vasculitis, M... ORPHA:183
Alg12-Cdg
Muscular ventricular septal defect, Intestinal malrotation, B lymphocytopenia, Camptodactyly, Biv... ORPHA:79324
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture, Cleft palate OMIM:147800
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate OMIM:609654
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Vascular ring OMIM:603387
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Symptomatic Form Of Hemochromatosis Type 1
Joint swelling, Cholangiocarcinoma, Hepatomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia... ORPHA:465508
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Stillbirth, Neonatal death, Congestive heart failure OMIM:619751
Seckel Syndrome 10
Elevated circulating aspartate aminotransferase concentration, Abdominal aortic aneurysm, Elevate... OMIM:617253
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Arteriovenous malformation, Venous insufficiency, Congestive heart failure ORPHA:137608
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Aortic valve stenosis, Dysplastic ... ORPHA:1600
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Atrial septal defect, Elevated circulating alkaline phosphatase concentration, Abno... OMIM:614576
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Aortic regurgitation, Mitral regurgitation, Bruising susceptibility OMIM:225320
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly ORPHA:1759
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries, Lower limb hyp... OMIM:619995
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Palmopla... OMIM:605275
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Pallor, Atrial septal defect, Patent foramen ovale OMIM:609053
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, C... OMIM:267010
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... OMIM:601808
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia OMIM:615067
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse, Elevated circulating alkaline phosphatase concentration, Mitral regurgitation OMIM:606631
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular sept... OMIM:248950
Cap Myopathy
Mitral valve prolapse, Sinus tachycardia, Aortic root aneurysm, Reduced systolic function ORPHA:171881
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... OMIM:301043
Gm1 Gangliosidosis
Cherry red spot of the macula, Decreased beta-galactosidase activity, Hepatosplenomegaly, Hydrops... ORPHA:354
Woods Syndrome
Ventricular septal defect, Supernumerary nipple OMIM:615236
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal enzyme/coenzyme activity, Bruising susceptibility, Abnormal bleeding, Arterial dissectio... ORPHA:1900
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Ventricular septal defect, ... ORPHA:436252
Transketolase Deficiency
Atrial septal defect, Hepatomegaly, Abnormal coronary artery course, Ventricular septal defect, P... ORPHA:488618
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Cardiomyopathy, Conge... ORPHA:52430
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holos... ORPHA:1677
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aplasia/Hypoplasia of the thy... OMIM:214800
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Camptodactyly, Ventricular septal defect, Protruding tongue, Patent ductus ... OMIM:300963
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Stroke, Hepatomegaly, Atrioventricular canal defect... ORPHA:97214
Fragile X Syndrome
Ascending tubular aorta aneurysm, Mitral valve prolapse ORPHA:908
Immune-Mediated Necrotizing Myopathy
Palpitations, Raynaud phenomenon, Myocarditis, Congestive heart failure ORPHA:206569
Congenital Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Prominent superficial veins, Hypertrophic cardiomyopathy, Hepatic steato... ORPHA:528
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Cryptorchidism, Tetralogy of Fallot ORPHA:1381