Gene Summary

Name:
versican
Synonyms:
DPEAAE,  PG-M,  5430420N07Rik,  Cspg2,  hdf,  heart defect

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart looping Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Vcanem2(IMPC)Mbp HET E15.5 0.00
abnormal somite shape Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal vitelline vasculature morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Vcanem2(IMPC)Mbp HOM   Early adult 0.00
persistence of hyaloid vascular system Vcanem2(IMPC)Mbp HET Early adult 6.41×10-08
abnormal eye morphology Vcanem2(IMPC)Mbp HET Early adult 0.00
abnormal visceral yolk sac morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Vcanem2(IMPC)Mbp HOM   E15.5 0.00
eye hemorrhage Vcanem2(IMPC)Mbp HET Early adult 7.65×10-06
abnormal heart morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Vcanem2(IMPC)Mbp HET E9.5 0.00
abnormal embryo turning Vcanem2(IMPC)Mbp HOM E9.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Vcan 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 Vcan by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Peripheral tractional retinal detachment, Optic atrophy OMIM:143200

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment ORPHA:90050
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Vitreous hemorrhage OMIM:612304
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Hypoplasia of right vent... ORPHA:1209
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Isolated Right Ventricular Hypoplasia
Cyanosis, Right atrial enlargement, Hypoxemia, Patent foramen ovale, Congestive heart failure, At... ORPHA:439
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal... ORPHA:860
Adams-Oliver Syndrome 4
Atrial septal defect, Cutis marmorata, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Eng-Strom Syndrome
Intrauterine growth retardation, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Atrioventricular Septal Defect 3
Cyanosis, Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulm... OMIM:600309
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Retinal detachment, Peripheral retinal... OMIM:193235
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect, Jaundice OMIM:614876
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Criss-Cross Heart
Cyanosis, Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pu... ORPHA:1461
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Death in childhood OMIM:253300
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Retinal Capillary Malformation
Hyphema, Vitreous hemorrhage ORPHA:71213
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Biventricular hypertrophy, Left ventricular non... OMIM:619424
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Macular Degeneration, Age-Related, 1
Macular degeneration, Geographic atrophy, Macular hemorrhage OMIM:603075
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Congenital Tricuspid Valve Dysplasia
Cyanosis, Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Hypoxemia, Paten... ORPHA:555874
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systol... ORPHA:99104
Congenital Pulmonary Lymphangiectasia
Cyanosis, Congestive heart failure, Pulmonic stenosis, Pulmonary arterial hypertension, Chyloperi... ORPHA:2414
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Congestive heart failure OMIM:301021
X-Linked Mandibulofacial Dysostosis
Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis, Short stature, Branchial anomaly ORPHA:1131
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization OMIM:180080
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect ORPHA:2515
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect, Wolff-Parkinson-White syndrome OMIM:614947
Branchiogenic-Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula OMIM:609166
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hemorrhage of the eye, Remnants of the hyaloid vascula... ORPHA:91495
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Arrhythmia, Patent ductus arteriosus, Hypertension, Ventricular ... OMIM:617021
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Patent ductus arteriosus after birth at t... OMIM:618782
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal detachment, Retinal neovascularization OMIM:133780
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Tractional retinal detachment OMIM:601813
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Pulmonic stenosis, Right ventricular hypertrophy,... OMIM:616028
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension... OMIM:261740
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Truncus arteriosus OMIM:228940
Eales Disease
Rhegmatogenous retinal detachment, Ischemic stroke, Vitreous hemorrhage, Transient ischemic attac... ORPHA:40923
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Grange Syndrome
Hypertension, Ventricular septal defect, Patent ductus arteriosus, Aortic regurgitation ORPHA:79094
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... ORPHA:444013
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effusion, Endocardial fibroelas... OMIM:619313
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Double Outlet Right Ventricle
Cyanosis, Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic left... ORPHA:3426
Vitreoretinochoroidopathy
Pigmentary retinopathy, Vitreous hemorrhage, Retinal detachment, Retinal neovascularization OMIM:193220
Apnea, Central Sleep
Cyanosis OMIM:207720
Breath-Holding Spells
Cyanosis OMIM:607578
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Pa... OMIM:617478
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Retinal neovascularization, Vitreous hemorrhage, Abnormality o... ORPHA:891
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Atrial se... OMIM:616749
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Myocardial infarcti... ORPHA:2038
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy, Left atrial... ORPHA:75249
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Right ventricular hypertrophy, Tachycardia, Left ventricular h... ORPHA:335
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Asbestos Intoxication
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Hepatojugular reflux, Right ventricular fai... ORPHA:2302
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Arrhythmia, Palpitations, Syncope, Tachycardia ORPHA:464453
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Subdural hemorrhage, Hypertension, Hematemesis, ... ORPHA:99827
Absence Of The Pulmonary Artery
Cyanosis, Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, C... ORPHA:980
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Tetralogy of Fallot, Aortopulmonary window, Congestive heart failure, Atrial septal def... ORPHA:99050
Infant Acute Respiratory Distress Syndrome
Cyanosis, Cardiac arrest, Hypoxemia, Hypotension, Bradycardia, Tachycardia ORPHA:70587
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Paroxy... ORPHA:49827
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Branchiogenic Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula ORPHA:50815
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Hyper... ORPHA:464321
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Uveal Melanoma
Vitreous hemorrhage, Retinal detachment ORPHA:39044
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:3304
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Bruising susceptibility, Ecchymosis, Epidural hemorrhage, Abnormal bl... ORPHA:464329
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Joubert Syndrome 18
Intrauterine growth retardation, Ventricular septal defect OMIM:614815
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Intrauterine growth retardation, Atrial septal defect, Abnormal heart morphology,... ORPHA:453499
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Adams-Oliver Syndrome 6
Portal hypertension, Cutis marmorata, Ventricular septal defect, Truncus arteriosus, Tricuspid re... OMIM:616589
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT interval, Ventr... OMIM:601005
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Petechiae, Ecchymosis, Shock, Hypotension, Capillary leak, Hypertensi... ORPHA:340
Eisenmenger Syndrome
Right-to-left shunt, Hypoxemia, Left-to-right shunt, Increased pulmonary vascular resistance, Rig... ORPHA:97214
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Ecchymosis, Purpura, Hypotension, Myocarditis, Excessive bleeding aft... ORPHA:319213
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Orthostatic hypotension OMIM:252320
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Stillbirth OMIM:263630
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Central Retinal Vein Occlusion
Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmentary retinopathy, Macular... ORPHA:411527
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Pulmonary arteri... OMIM:608406
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Dilated cardiomyopathy, Aortic regurgitation, Pulmonary insufficiency, Congestive heart... ORPHA:2326
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Congestive heart failure, Aortic reg... ORPHA:99094
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Primary Pulmonary Hypoplasia
Cyanosis, Intrauterine growth retardation, Hypoxemia, Dextrocardia, Secundum atrial septal defect ORPHA:2257
Weill-Marchesani Syndrome
Mitral regurgitation, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Pseudoxanthoma Elasticum
Optic disc drusen, Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Res... OMIM:264800
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium OMIM:615524
46,Xx Sex Reversal 5
Hypoplastic left heart, Ventricular septal defect, Secundum atrial septal defect OMIM:618901
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Hypertension, Ventricular septal defect, Tachycardia OMIM:613870
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Hereditary Bullous Dystrophy, Macular Type
Heart murmur, Acrocyanosis, Abnormal heart morphology ORPHA:1867
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Pulmonary Capillary Hemangiomatosis
Cyanosis, Diffuse alveolar hemorrhage, Hypoxemia, Elevated pulmonary artery pressure, Hemothorax,... ORPHA:199241
Familial Drusen
Abnormality of retinal pigmentation, Macular atrophy, Exudative retinal detachment, Reticular pig... ORPHA:75376
Retinoblastoma
Retinal calcification, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentat... ORPHA:790
Truncus Arteriosus
Cyanosis, Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Intrauterine ... ORPHA:3384
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, V... OMIM:612561
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Ventricular septal defect OMIM:613458
Cardiac Diverticulum
Tricuspid atresia, Premature ventricular contraction, Dextrocardia, Mitral stenosis, Ventricular ... ORPHA:1686
Idiopathic Aplastic Anemia
Epistaxis, Gingival bleeding, Ecchymosis, Retinal hemorrhage ORPHA:88
Histiocytoid Cardiomyopathy
Cyanosis, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failur... ORPHA:137675
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Death in infancy, Neonatal death, Pulmonary arterial hypertension OMIM:265120
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Double outlet right v... OMIM:220210
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Short neck, Spinal dysraphism, Ventricu... ORPHA:2162
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:615355
Congenital Rubella Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Jaundice, Ventri... ORPHA:290
Noonan Syndrome 12
Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pericardium morphology, Congestive... ORPHA:183
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Intrauterine growth retardation, Ventricular septal defect ORPHA:2772
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Ventricular septal de... ORPHA:1913
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus ORPHA:1455
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Cirrhotic Cardiomyopathy
Right atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Left atrial enlargement ORPHA:57777
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Ventricular tachycardia, Arrhythmia, Hypotension, Cardiomyopathy ORPHA:159
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventricular hypertrophy OMIM:612946
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia OMIM:611773
Bor Syndrome
Branchial cyst ORPHA:107
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Bruising susceptibility, Petechiae, Hypovolemia, Shock, Hypotension, ... ORPHA:99826
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Atrial septal defect, Growth delay, Short stature, Branchial fis... ORPHA:261330
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Acute Interstitial Pneumonia
Cyanosis, Hypertension, Hypoxemia, Pericardial effusion ORPHA:79126
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, Atrial septal defect, First degree atri... ORPHA:392
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Growth delay, Abnormal heart morphology, Ventricular septal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Growth delay, Abnormal heart morphology, Ventricular septal... ORPHA:352665
Waardenburg Syndrome Type 3
Atrial septal defect, Acrocyanosis ORPHA:896
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Scimitar anomaly, Dextrocard... OMIM:608978
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Patent ductus arteriosus, Congestive heart failure, Pulmonary ... ORPHA:1457
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cutis marmorata, Ventricular septal defect OMIM:602501
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Jaundice, Ventricular septal defect, Right ventricular hypertrophy, Death i... OMIM:208085
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect OMIM:147800
Leptospirosis
Subconjunctival hemorrhage, Arrhythmia, Retinal hemorrhage, First degree atrioventricular block, ... ORPHA:509
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Pulmonary arterial hypertension, Hypertension, V... OMIM:615474
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Prominent superficial veins, Conges... ORPHA:363705
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Acrocyanosis, Shock, Internal hemorrhage ORPHA:49566
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double outlet right ventricl... OMIM:179613
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus ORPHA:2516
Encephalopathy, Ethylmalonic
Acrocyanosis, Death in infancy, Petechiae OMIM:602473
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent ductus a... OMIM:618142
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:248950
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus ORPHA:401935
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Ve... ORPHA:284169
Warsaw Breakage Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Cutis marmorata, Ventricular septal defect OMIM:613398
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Patent ductus arteriosus, Tricuspid valve prolapse, Branchial fistula, Ventricular s... ORPHA:261337
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
Congenital Tracheomalacia
Cyanosis, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Partial anomalous ... ORPHA:95430
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Cardiomyopathy, Intrauterine growth retardation OMIM:618839
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Acrocyanosis, Atrioventricular block OMIM:614407
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Prolonged neonatal jaundice, Cardiomyopathy, Vasculitis, Acrocyanosis, Purpura OMIM:225750
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect ORPHA:1166
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Intrauterine growth retardation OMIM:618835
Scimitar Syndrome
Tetralogy of Fallot, Tricuspid atresia, Congestive heart failure, Atrial septal defect, Patent du... ORPHA:185
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Patent foramen ovale, Arrhythmia, Ventricular t... ORPHA:26793
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Cardiomegaly, Atrial septal dilatation, Right ventricular hypertrophy ORPHA:1677
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Retinal hemorrhage, Macular degeneration, Cerebral hemorrhage, Angin... OMIM:177850
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cutis marmorata, Intrauterine growth retardation, Patent ductus arteriosus, Hypertrophic cardiomy... OMIM:612938
Tyshchenko Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Ventricular sep... OMIM:601927
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Erythema, Urticaria, Vasculitis, Acrocyanosis, Purpura ORPHA:343
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycar... OMIM:618775
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... ORPHA:210122
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Roifman Syndrome
Noncompaction cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect OMIM:616651
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Pulmonary arterial hypertension, Hypertension, Ventricular ... ORPHA:369929
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Ventricular septal de... OMIM:600123
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Transaldolase Deficiency
Intrauterine growth retardation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal de... OMIM:606003
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Jaundice, Right ventricular hypertrophy OMIM:613404
Tetrasomy 5P
Cyanosis, Pulmonary arterial hypertension, Heart murmur, Congestive heart failure ORPHA:3309
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Emanuel Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosi... OMIM:609029
Woods Syndrome
Ventricular septal defect OMIM:615236
Cryptogenic Organizing Pneumonia
Cyanosis, Hypoxemia ORPHA:1302
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Abnormal hear... ORPHA:261183
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale OMIM:614261
Heterotaxy, Visceral, 12, Autosomal
Complete atrioventricular canal defect, Patent foramen ovale, Patent ductus arteriosus, Atrial se... OMIM:619702
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Sepsis In Premature Infants
Cyanosis, Petechiae, Hypotension, Jaundice, Bradycardia, Tachycardia, Purpura ORPHA:90051
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis, Tractional retinal detachment ORPHA:209959
Ethylene Glycol Poisoning
Cyanosis, Congestive heart failure, Hypotension, Atrial fibrillation, Hypertension, Prolonged QT ... ORPHA:31826
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect, Patent ductus arteriosus ORPHA:452
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Telangiectasia, Punctate vasculit... OMIM:192315
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:603387
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia ORPHA:91359
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect OMIM:600987
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Patent ductus arteriosus, Abnormal heart morphology, Bicuspid aortic valve,... ORPHA:500159
Catel-Manzke Syndrome
Overriding aorta, Intrauterine growth retardation, Dextrocardia, Ventricular septal defect OMIM:616145
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:613457
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Methimazole Embryofetopathy
Intrauterine growth retardation, Ventricular septal defect ORPHA:1923
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Death in infancy, Neonatal death, Hypoxemia OMIM:610921
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:610338
Retinoblastoma
Vitreous hemorrhage, Retinal calcification OMIM:180200
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect ORPHA:75389
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Fucosidosis
Acrocyanosis, Cardiomegaly, Vascular skin abnormality ORPHA:349
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Left atrial enlargement OMIM:614008
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, High-output congestive heart failure, Spontaneous, recurrent epistaxis, Conjunctival te... OMIM:610655
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Ventricular sept... OMIM:614576
Insulin-Like Growth Factor I, Resistance To
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Reduced subcutaneous... OMIM:270450
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... ORPHA:740
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, Arrhythmia OMIM:153400
Dravet Syndrome
Cyanotic episode ORPHA:33069
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Bicuspid aortic valve, Vent... ORPHA:329224
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:300963
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia OMIM:610910
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Aortic regurgitation, Arrhythmia, Atrial septal defect, Ventricu... ORPHA:254346
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Atrial septal defect, Dextrotransposition of the great arteries, Unbala... OMIM:619657
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Acrocardiofacial Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Mitral stenosis, Vent... ORPHA:2008
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:301039
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:616564
Pseudoxanthoma Elasticum
Bruising susceptibility, Gastrointestinal hemorrhage, Retinal hemorrhage, Sudden cardiac death, T... ORPHA:758
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Hypoxemia, Oxygen desaturation on exertion, Atrial septal defect, Ventricular septal defect, Abno... OMIM:610978
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Right ventricular dilatation ORPHA:70591
Ogden Syndrome
Minimal subcutaneous fat, Torsade de pointes, Premature ventricular contraction, Arrhythmia, Atri... OMIM:300855
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618870
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hypoxemia, Gastrointestinal hemorrhage, Nail bed telangiectasia, Telangiectasia of the skin, Gast... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cyanosis, Hematochezia, Nail bed telangiectasia, Ischemic stroke, Conjunctival telangiectasia, Sp... OMIM:600376
Meckel Syndrome, Type 4
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:611134
Rare Circulatory System Disease
Cyanosis, Intermittent claudication ORPHA:98028
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Intrauterine growth retardation, Ventricular septal defect OMIM:617164
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Patent ductus a... ORPHA:2519
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal def... OMIM:601186
Transketolase Deficiency
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal heart morphology, ... ORPHA:488618
Trisomy 13
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent ductus a... ORPHA:3378
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Noonan Syndrome 4
Bruising susceptibility, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ve... OMIM:610733
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Left ventricular hypertrophy, Ventricular septal defec... OMIM:618619
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal de... OMIM:616897
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Intrauterine growth retardation, Ventricular septal defect OMIM:617022
Prune Belly Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus ORPHA:2970
Tarp Syndrome
Cyanosis, Tetralogy of Fallot, Atrial septal defect, Intrauterine growth retardation ORPHA:2886
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Gingival bleeding, Vas... ORPHA:33226
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Intrauterine growth retardation, Ventricular septal defect ORPHA:447980
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Fanconi Anemia, Complementation Group I
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ... OMIM:609053
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Ventricular septal defect ORPHA:79243
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Double outlet right ventricle, Hypertension, Ventricular septal defect, Bic... ORPHA:371428
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Abno... ORPHA:477817
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Intrauterine growth retardation, Cutis marmorata, Ventricular septal defect OMIM:617602
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Kagami-Ogata Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertensio... OMIM:608149
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Primary Hyperoxaluria
Cutis marmorata, Heart block, Cardiomyopathy, Acrocyanosis, Intermittent claudication, Raynaud ph... ORPHA:416
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619769
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Intrauterine growth retardation, Death in childhood, Ventricular septal defect, Dea... OMIM:243150
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Intrauterine growth retardation, Ventricular septal defect ORPHA:494344
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Situs inversus t... ORPHA:1908
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Situs in... ORPHA:3097
Pulmonary Alveolar Microlithiasis
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Increased pulmonary vascular resistance, Mi... ORPHA:60025
Emanuel Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosi... ORPHA:96170
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:612582
Ogden Syndrome
Cardiogenic shock, Ventricular septal defect, Arrhythmia ORPHA:276432
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular septa... OMIM:612562
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:617452
Fanconi Anemia, Complementation Group B
Death in infancy, Intrauterine growth retardation, Ventricular septal defect, Patent ductus arter... OMIM:300514
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormal heart morphology, Ventricular septal defect, Patent foramen ovale ORPHA:369891
Alagille Syndrome
Intrauterine growth retardation, Atrial septal defect, Telangiectasia of the skin, Hypertension, ... ORPHA:52
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Unilateral Polymicrogyria
Cyanosis, Abnormal heart morphology, Epistaxis ORPHA:268943
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Noonan Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:605275
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Intrauterine growth retardation, Pulmonary valve atresia, Ventricular septa... OMIM:301030
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Concentric hypertrophic cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy OMIM:252010
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect ORPHA:3255
Dermatomyositis
Sinus tachycardia, Arrhythmia, Erythema, Cutaneous photosensitivity, Myocarditis, Myocardial infa... ORPHA:221
Chromosome 9P Deletion Syndrome
Atrial septal defect, Heart murmur, Ventricular septal defect, Patent ductus arteriosus OMIM:158170
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Total anomalous pulmonary venous return, Intrauterine growth retardation,... OMIM:270100
3P25.3 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
Diabetic Embryopathy
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1926
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Heart murmur, Ventricular septal defect ORPHA:166035
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Congenital Tracheal Stenosis
Cyanosis, Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus ORPHA:141127
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect ORPHA:505237
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Intrauterine growth retardation, Abnormal left ventricular function, Double outlet right ventricl... OMIM:301056
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Congestive heart failure, Dysplastic aortic valve, Atrial septal defect... OMIM:601808
Mosaic Variegated Aneuploidy Syndrome 2
Intrauterine growth retardation, Aortic regurgitation, Atrial septal defect, Subvalvular aortic s... OMIM:614114
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Subcutaneous lipoma, Subvalvular aortic stenosis, Ventricular septal defect OMIM:613001
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve,... OMIM:121050
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ventricular septal defect, Pulmonic stenosis OMIM:615508
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia ORPHA:747
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus ORPHA:2328
Noonan Syndrome 3
Bruising susceptibility, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Hy... OMIM:609942
Zellweger Syndrome
Death in infancy, Ventricular septal defect, Jaundice ORPHA:912
Pelger-Huet Anomaly
Ventricular septal defect OMIM:169400
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Pulmonic stenosis ORPHA:3071
Codas Syndrome
Ventricular septal defect ORPHA:1458
Sotos Syndrome
Atrial septal defect, Prolonged neonatal jaundice, Ventricular septal defect, Patent ductus arter... OMIM:117550
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Cutis marmorata, Atrioventricular block, Intermittent claudication, Acrocyano... OMIM:259900
Poems Syndrome
Pulmonary arterial hypertension, Acrocyanosis, Pericardial effusion ORPHA:2905
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic tricuspid va... OMIM:600001
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Short neck, Intrauterine growth retardati... ORPHA:508488
Kapur-Toriello Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent ductus a... OMIM:244300
Esophageal Atresia
Cyanosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1199
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrioventricular canal defect OMIM:619123
Choanal Atresia
Cyanosis ORPHA:137914
Phaver Syndrome
Intrauterine growth retardation, Ventricular septal defect ORPHA:2876
Seckel Syndrome 9
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:616777
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Pulmonary arterial hypertension, Hypoxemia OMIM:610913
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Cardiomegaly, Sudden cardiac death, Pulmonary arterial hypertension, Vent... OMIM:614921
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, Ven... ORPHA:457279
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Adams-Oliver Syndrome 1
Tetralogy of Fallot, Cutis marmorata, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial... OMIM:100300
Maternal Phenylketonuria
Tetralogy of Fallot, Intrauterine growth retardation, Double outlet right ventricle, Hypoplastic ... ORPHA:2209
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Gm1 Gangliosidosis
Patent ductus arteriosus, Congestive heart failure, Abnormal heart morphology, Cardiomyopathy, Ve... ORPHA:354
Branchiooculofacial Syndrome
Short neck, Intrauterine growth retardation, Postnatal growth retardation, Branchial anomaly, Low... OMIM:113620
Postinfectious Vasculitis
Vasculitis in the skin, Raynaud phenomenon, Cutis marmorata, Bacterial endocarditis, Cerebral vas... ORPHA:48435
Carpenter Syndrome 1
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricul... OMIM:201000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Tetralogy of Fallot, Right-to-left shunt, Patent foramen ovale, Right ventricular hypertrophy, Pu... OMIM:265380
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Ventricular septal defect ORPHA:217346
Thakker-Donnai Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of... ORPHA:1780
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus