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, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... OMIM:270100
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... OMIM:600884
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... ORPHA:185
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... ORPHA:90308
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atria... ORPHA:3304
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... OMIM:601927
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Nemaline Myopathy 9
Ventricular septal defect, Cleft palate, High palate, Arthrogryposis multiplex congenita, Nemalin... OMIM:615731
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... OMIM:617022
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... ORPHA:3426
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Muscular ventricular septal defect OMIM:620062
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... OMIM:619048
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... ORPHA:90064
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Birk-Aharoni Syndrome
Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia OMIM:620071
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Fanconi Anemia, Complementation Group Q
Biliary atresia, Primum atrial septal defect OMIM:615272
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Ol... ORPHA:163596
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Coarctation of aorta, Per... OMIM:600987
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Coarctatio... ORPHA:101028
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Biliary atresia, Dextrotransposition of the great arteries, Atrial ... OMIM:306955
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate, Campto... OMIM:618804
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... OMIM:611376
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:1918
Cirrhotic Cardiomyopathy
Cardiomegaly, Global systolic dysfunction, Abnormal bleeding, Hepatomegaly, Elevated pulmonary ar... ORPHA:57777
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardiu... ORPHA:2414
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent... OMIM:540000
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen oval... OMIM:600001
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Velopharyngeal insufficiency, Abnor... ORPHA:363444
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Perimembranous ventricular septal def... OMIM:608104
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... ORPHA:3405
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Congenital Myopathy 11
Elevated hepatic transaminase, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Pa... OMIM:619967
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fi... OMIM:613313
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... OMIM:617877
Acitretin/Etretinate Embryopathy
Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Median ... ORPHA:40366
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect, High palate OMIM:618354
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Abnormal heart m... ORPHA:70472
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Multiple muscular ventricular septal defects, Limb hypertonia, High palate,... OMIM:620070
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, High palate, Pulmonic stenosis OMIM:618205
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Pallor OMIM:613561
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Striae distensae, Mitral valve prolapse OMIM:604308
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy ORPHA:206546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:608099
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Adrenal insufficiency ORPHA:251076
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... OMIM:208000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased... ORPHA:275766
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... OMIM:618234
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:601355
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Cleft palate, Glossoptosis, Atrial septal defect ORPHA:1388
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Redundant skin OMIM:301021
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis, Arrhyt... OMIM:602390
Microphthalmia, Syndromic 9
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort... OMIM:601186
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology OMIM:615542
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Abnorma... ORPHA:1166
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Pa... ORPHA:3386
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit... ORPHA:1054
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... ORPHA:367
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe... OMIM:614262
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... ORPHA:2326
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... OMIM:615524
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Ascites OMIM:269920
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension, Hepatic steatosis, Premature coron... OMIM:615703
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... OMIM:618316
Dk1-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ... ORPHA:91131
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Mmep Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:3434
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... OMIM:611126
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Cleft palate, Ectopic anus ORPHA:2476
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup... OMIM:618164
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Congestive heart failure ORPHA:796
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Telangiectas... OMIM:235200
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural... ORPHA:330001
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... OMIM:618652
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate OMIM:616898
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Mitral Valve Prolapse 1
Mitral regurgitation, Striae distensae, Mitral valve prolapse OMIM:157700
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Polyhydramnios ORPHA:500533
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism OMIM:616816
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Abnormal intrahepa... ORPHA:363618
Methimazole Embryofetopathy
Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea... ORPHA:1923
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy... OMIM:616866
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141179
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... ORPHA:3099
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... OMIM:614886
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Sotos Syndrome
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... OMIM:117550
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Stroke, Arrhythmi... ORPHA:230839
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... OMIM:612946
Chromosome 9P Deletion Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow palate, Perimemb... OMIM:158170
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Okamoto Syndrome
Redundant neck skin, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial... ORPHA:2729
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Anter... OMIM:309801
Butyrylcholinesterase Deficiency
Abnormal circulating enzyme concentration or activity, Abnormality of the liver, Congestive heart... ORPHA:132
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valv... ORPHA:1194
14Q11.2 Microdeletion Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardiomyopathy, Hypochromic... ORPHA:66634
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Poly... OMIM:301056
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... OMIM:619227
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... OMIM:615355
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukopenia, Lymphopenia OMIM:620210
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141184
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... ORPHA:244
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Dehydration, Abnorm... ORPHA:1667
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia ORPHA:3469
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Atrial ... ORPHA:2847
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Beta-Thalassemia
Hepatomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyopathy ORPHA:848
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:94066
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Ehlers-Danlos Syndrome, Hypermobility Type
Striae distensae, Mitral valve prolapse OMIM:130020
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal aortic morphology, Truncus... ORPHA:2516
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Renal Tubular Dysgenesis
Tetralogy of Fallot, Polyhydramnios, Oligohydramnios ORPHA:3033
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Striae distensae, Angina pectoris, ... ORPHA:758
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Classic Multiminicore Myopathy
Congestive heart failure, Mitral valve prolapse, Right ventricular failure, Right ventricular hyp... ORPHA:324604
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:230500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor ORPHA:46532
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... ORPHA:2331
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Bruising susceptibility, Petechiae, Mitral valve prolapse OMIM:225310
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Hepatic fibrosis, Truncu... OMIM:616589
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect OMIM:613870
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Dextrocardia ORPHA:2863
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coarctat... OMIM:616145
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet... ORPHA:163956
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Polyhydramnios OMIM:616794
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul... OMIM:314390
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... OMIM:249270
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Refsum Disease, Classic
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa... OMIM:266500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, Pe... OMIM:612541
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Cutis ... OMIM:123700
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Down Syndrome
Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Patent du... OMIM:190685
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Congestive heart failure, Prominent veins on trunk, Hypertension, Cirrhosis, Hypert... ORPHA:79083
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Esophageal atresia, Pyloric stenosis... OMIM:101200
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d... OMIM:615508
Halperin-Birk Syndrome
Flexion contracture, High palate, Perimembranous ventricular septal defect, Congenital diaphragma... OMIM:618651
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Pallor ORPHA:99931
Cednik Syndrome
Congestive heart failure, Stroke ORPHA:66631
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow pala... OMIM:615102
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... OMIM:616564
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Skin ulcer, Cerebral ischemia, Aortic ... ORPHA:397
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Micronodular cirrhosis, Patent ductus arteriosus, Hepato... OMIM:606003
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Mitral valve prolapse, Hypertension, Mitral regurgitation, Cerebral berry aneurysm OMIM:173900
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Palmoplantar cutis laxa OMIM:618499
Noonan Syndrome 9
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Coronary ... ORPHA:2348
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula OMIM:619083
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextroca... OMIM:618280
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Hypothyroidism, Intrinsic hand muscle atrophy OMIM:618569
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Multiple muscu... ORPHA:391641
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Protruding tongue, Secundum atrial septal defect, Splenomegaly, Perimemb... OMIM:608779
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Increased mean pl... ORPHA:84064
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate OMIM:214300
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... ORPHA:67
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating aspartate aminotransferase concentration, Congestiv... OMIM:617253
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts OMIM:263630
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundant skin, Myocarditis, C... ORPHA:3342
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension ORPHA:3222
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Eryth... ORPHA:727
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis... OMIM:618021
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension OMIM:300887
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom... ORPHA:91139
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:1926
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis ORPHA:1296
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Cryptorchidism, Reduced alpha/beta synthesis ratio,... OMIM:301040
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary ven... ORPHA:1120
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Jaundice, Patent ductus arteriosus, Atrial septal defect... ORPHA:290
Trigonocephaly With Short Stature And Developmental Delay
High palate, Ventricular septal defect OMIM:314320
Alagille Syndrome 2
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... OMIM:610205
Stuve-Wiedemann Syndrome 2
Neonatal death, Congestive heart failure, Stillbirth, Pulmonary arterial hypertension OMIM:619751
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... ORPHA:183
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion, ... ORPHA:1666
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Cleft palate, Abnormal heart morphology, Hypoplasia of the thymus, Camptodactyly,... OMIM:214110
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate OMIM:609654
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect, Cleft palate OMIM:147800
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Intestinal malrotation, Cryptorchidism, Muscular ve... ORPHA:79324
Atelis Syndrome 1
Ventricular septal defect, Thrombocytopenia, Leukopenia, High palate, Atrial septal defect, Hypot... OMIM:620184
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor OMIM:609053
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Ventricular septal defect ORPHA:3369
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:607598
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Congestive heart failure, Ca... ORPHA:465508
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse OMIM:225320
Cap Myopathy
Aortic root aneurysm, Reduced systolic function, Sinus tachycardia, Mitral valve prolapse ORPHA:171881
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Hypotension, ... OMIM:615668
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Excessive wrinkled skin, Arteriovenous malformation ORPHA:137608
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Congestive heart failur... ORPHA:1900
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... OMIM:601808
Optic Atrophy 1
Pallor OMIM:165500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Conge... ORPHA:52430
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Peau d'orange, Ventricular septal... OMIM:614576
Gm1 Gangliosidosis
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Hydrops fetalis, H... ORPHA:354
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... OMIM:301043
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure... ORPHA:33226
Charge Syndrome
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... OMIM:214800
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate... OMIM:605275
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... OMIM:618494
Fragile X Syndrome
Ascending tubular aorta aneurysm, Mitral valve prolapse ORPHA:908
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Cleft palate, Coarctation of aorta, Submucous clef... OMIM:301022
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Intestinal atresi... ORPHA:436252
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Lymphedema, Intracranial hemorrhage, Pallor, Bruising susc... ORPHA:3226
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Congestive heart failure, Cirrhosis, Hypertrophic card... ORPHA:528
Boudin-Mortier Syndrome
Aortic root aneurysm, Elevated alkaline phosphatase of bone origin, Mitral valve prolapse OMIM:619543
Camurati-Engelmann Disease, Type 2
Elevated circulating alkaline phosphatase concentration, Mitral regurgitation, Mitral valve prolapse OMIM:606631
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Fumarase Deficiency
High palate, Necrotizing enterocolitis, Perimembranous ventricular septal defect, Polycythemia OMIM:606812
Immune-Mediated Necrotizing Myopathy
Raynaud phenomenon, Myocarditis, Palpitations, Congestive heart failure ORPHA:206569