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Gene: Tab1 MGI:1913763

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
TGF-beta activated kinase 1/MAP3K7 binding protein 1
Synonyms:
Map3k7ip1,  Tak1-binding protein 1,  b2b449Clo,  2310012M03Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tab1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tab1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Lipedema
Edema OMIM:614103
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Boomerang Dysplasia
Finger syndactyly, Abnormal tibia morphology, Abnormal femur morphology, Abnormal morphology of u... ORPHA:1263
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Prolonged bleeding time, Congestive heart... ORPHA:90308
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Chondrodysplasia, Blomstrand Type
Fetal ascites, Stillbirth, Flared metaphysis, Short ribs, Preductal coarctation of the aorta, Gen... OMIM:215045
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diamet... OMIM:616897
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs... ORPHA:2204
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Pulmo... OMIM:619003
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... ORPHA:3426
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Transaldolase Deficiency
Biventricular hypertrophy, Telangiectasia, Coarctation of aorta, Atrial septal defect, Hydrops fe... ORPHA:101028
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios, Hydrops fetalis, Pulmonary hyp... OMIM:613124
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio... OMIM:618815
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Ascites, Cardiomegaly, Hydrops fetalis, Metaphyseal irregul... OMIM:269920
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Stiff neck, Broad ribs, Overlapping fingers, Femo... OMIM:617022
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Nonimmune hydrops fetalis, Joint contracture, Flexion contracture, Abnormality of... OMIM:608540
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... ORPHA:1041
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Mulibrey Nanism
Congestive heart failure, Ascites, Cardiomegaly, Thickened cortex of long bones, Pericardial cons... OMIM:253250
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Singl... ORPHA:3405
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Ep... OMIM:256550
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Pulmonary insufficiency, Hydrops fe... OMIM:619433
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... ORPHA:392
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Achondrogenesis Type 1A
Abnormal enchondral ossification, Multiple rib fractures, Aplasia/Hypoplasia of the lungs, Hydrop... ORPHA:93299
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, ... OMIM:232500
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
Achondrogenesis Type 1B
Abnormal enchondral ossification, Thickened nuchal skin fold, Polyhydramnios, Aplasia/Hypoplasia ... ORPHA:93298
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Tracheobronchomalaci... ORPHA:70589
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... OMIM:192430
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... OMIM:179613
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:615297
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Achondrogenesis
Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Thickened nuchal skin fold, Po... ORPHA:932
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion OMIM:619462
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Achondrogenesis, Type Ib
Hypoplastic ilia, Absent or minimally ossified vertebral bodies, Short ribs, Breech presentation,... OMIM:600972
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... OMIM:601186
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe... OMIM:617228
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... OMIM:252011
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... ORPHA:45452
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Edema, Atelectasis OMIM:267450
Cutis Laxa-Marfanoid Syndrome
Limitation of joint mobility, Emphysema, Abnormal heart valve morphology, Congenital diaphragmati... ORPHA:171719
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Arteriovenous malformation, Abnormal bleeding, Congestive heart failure, ... ORPHA:137667
Fetal Gaucher Disease
Decreased fetal movement, Neonatal death, Fetal akinesia sequence, Stillbirth, Intracranial hemor... ORPHA:85212
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... ORPHA:980
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... OMIM:620014
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Limitation of joint mobility, Increased placental thickness, Broad long bones, ... ORPHA:1865
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal rib morphology, Abnormal lung loba... ORPHA:3378
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... ORPHA:1120
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Stillb... OMIM:200600
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Cardiomyopathy, Aspiration p... ORPHA:354
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Sialidosis Type 2
Skeletal muscle atrophy, Ascites, Osteoporosis, Flexion contracture, Hydrops fetalis, Pedal edema ORPHA:87876
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Abnormal bleeding, Cardiomyopathy, Fetal distress, Pleural effusion, ... ORPHA:292
Acrocardiofacial Syndrome
Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular septal defect, Coarctation ... ORPHA:2008
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl... OMIM:215140
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... OMIM:615415
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro... OMIM:228520
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal hip bone morphology, Joint stiffness, Congenital diaphragmatic hern... ORPHA:1166
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac... OMIM:619167
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Atelectasis, Axial muscle atrophy, Decreased cervical spi... ORPHA:254361
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Free Sialic Acid Storage Disease
Ascites, Aplasia/Hypoplasia of the abdominal wall musculature, Recurrent respiratory infections, ... ORPHA:834
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Ascending aortic dissection, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Hypoplasia of the capi... ORPHA:85166
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Lymphedema, Ascites, Abnormal pleura morphology, Epiphyseal stippling... ORPHA:584
Trisomy 1Q
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Increased nuchal translucency... ORPHA:261344
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Aspiration pneumonia, Cherry red spot of the macula, Broad long bone diaphyses, A... ORPHA:79255
Mosaic Trisomy 9
Limitation of joint mobility, Finger clinodactyly, Camptodactyly of finger, Abnormal lung lobatio... ORPHA:99776
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive... OMIM:620609
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Ventricular septal defect ORPHA:2876
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... OMIM:608978
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Abnormal card... ORPHA:367
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Tetrasomy 15Q26
Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus OMIM:614846
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Limitation of joint mobility, Cardiomyopathy, Abnor... OMIM:253220
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology, Congenital diaphragmatic hernia, Arachnodactyly, Hip disloc... OMIM:614100
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Premature birth, Broad long bones, Congestive ... OMIM:166210
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... OMIM:616276
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Arachnodactyly, Bicuspid aortic valve, Carotid a... ORPHA:91387
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bruising susceptibility, Joint hypermobility, Distal lower limb muscle weakness, Descending aorti... OMIM:620080
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Emanuel Syndrome
Aortic valve stenosis, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Paten... OMIM:609029
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Endocardial fibroelastosis, Neonatal death, Aplasia of the ulna, Hydrops fetalis OMIM:276822
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth ORPHA:2123
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... OMIM:200610
Mgat2-Cdg
Osteopenia, Abnormal bleeding, Abnormal heart morphology, Ventricular septal defect, Arrhythmia, ... ORPHA:79329
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... OMIM:616652
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... ORPHA:402075
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Myocardial infarction, Acute infectious pneumonia, Recurr... ORPHA:60033
Gaucher Disease Type 3
Aortic valve calcification, Osteolysis, Abnormal heart valve morphology, Increased susceptibility... ORPHA:77261
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fet... OMIM:620167
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Farber Disease
Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Short toe, Atelectasis, Sh... ORPHA:333
Feingold Syndrome Type 1
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... ORPHA:391641
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... OMIM:616843
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Decreased fetal movement, Atrial septal defect, Pericardial effusion, ... OMIM:608776
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... ORPHA:371428
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Noni... OMIM:620244
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint stiffness, Joint hypermobility, Ventricular septal defect, Coarctation of aorta, Recurrent ... OMIM:620210
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se... OMIM:153400
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Craniofacioskeletal Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:300712
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Atrial septal defect, Histiocytoid cardiomyopathy, Ventricular septal defect OMIM:309801
Emanuel Syndrome
Aortic valve stenosis, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Paten... ORPHA:96170
Alg9-Cdg
Hypoplasia of the musculature, Ventricular septal defect, Broad ischia, Atrial septal defect, Tor... ORPHA:79328
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Periphe... ORPHA:75249
Schneckenbecken Dysplasia
Hypoplastic scapulae, Stillbirth, Advanced tarsal ossification, Polyhydramnios, Short ribs, Nonim... OMIM:269250
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Small hand, Joint contracture of the hand, Periorbital edema, Intestina... OMIM:235510
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Abnormal epiphysis morphology, Prem... ORPHA:50945
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Osteomalacia, Retinal hemorrhage... ORPHA:51608
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
Noonan Syndrome 2
Prominent fingertip pads, Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal def... OMIM:605275
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopathy, Arrhythmia, Hydrops f... OMIM:609015
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Pulmonary hypoplasia, Ascites, Polydactyly,... OMIM:614091
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Renal Tubular Dysgenesis
Tetralogy of Fallot ORPHA:3033
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect OMIM:620511
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola... ORPHA:2396
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... ORPHA:69735
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge... ORPHA:896
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Pulmonary arterial hypertension, Abnormal pulmonary in... OMIM:612387
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Tricuspid ... OMIM:263520
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:618839
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... OMIM:612561
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Breech presentat... OMIM:620369
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Decreased calvarial ossification, Nonimmune hydrops fetalis, Brachy... OMIM:618265
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Gaucher Disease, Perinatal Lethal
Premature birth, Desquamation of skin soon after birth, Ascites, Petechiae, Decreased fetal movem... OMIM:608013
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Joint hypermobility... OMIM:300219
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618330
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tracheomalacia, Atelectasis, Tricuspid regurgitation, Retinal arterial tortuosity, Finger joint h... OMIM:620371
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... OMIM:615996
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Li-Campeau Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage... ORPHA:163979
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Short 2nd... OMIM:600987
Meconium Aspiration Syndrome
Premature rupture of membranes, Meconium stained amniotic fluid, Atelectasis, Aspiration pneumoni... ORPHA:70588
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor... ORPHA:2357
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... ORPHA:95430
Multiple Pterygium Syndrome, Escobar Variant
Dysplastic patella, Patellar aplasia, Congenital diaphragmatic hernia, Arachnodactyly, Dislocated... OMIM:265000
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Cardiomyopathy, Familial Restrictive, 3
Right atrial enlargement, Aortic aneurysm, Restrictive cardiomyopathy, Myocardial sarcomeric disa... OMIM:612422
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Overriding aorta ORPHA:3186
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Alg8-Cdg
Ascites, Oligohydramnios, Brachydactyly, Camptodactyly, Macroglossia, Hydrops fetalis, Edema, Pre... ORPHA:79325
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Ventricular septal defect, Decreased skull ossificat... ORPHA:3472
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Recurrent bronchiolitis, Coarctation of aorta, Polyhydramnios, Hypertension,... OMIM:616069
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Gaucher Disease
Aortic valve calcification, Gingival bleeding, Cherry red spot of the macula, Increased bone mine... ORPHA:355
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Coarctation of aorta,... ORPHA:17
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Spontaneous pneumothorax, Aortic root aneurysm, Bicuspid aortic valve, Asce... OMIM:619825
Congenital Syphilis
Pneumonia, Periostitis, Large placenta, Petechiae, Tibial bowing, Synovitis, Myocarditis, Hydrops... ORPHA:499009
Allergic Bronchopulmonary Aspergillosis
Emphysema, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
C1Q Deficiency 2
Atelectasis, Arthritis, Vasculitis in the skin, Recurrent lower respiratory tract infections, Bro... OMIM:620321
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctation of aorta,... ORPHA:268249
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Preaxial polydactyly, Congenital diaphragmatic hernia, Short ribs, Postaxial p... OMIM:616546
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Feingold Syndrome 1
Interrupted aortic arch, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus,... OMIM:164280
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Clinodactyly, Horizontal ribs, Patent foramen ovale, Polydactyly, Short ribs... OMIM:613610
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Abnormal heart morphology, Overlapping toe, Overlapping fingers, Oligoh... OMIM:618494
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Muscular dystrophy, Hydrops fetalis, Cardiomyopathy ORPHA:88618
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Aortic aneurysm, Atrial septal defect, Ventricular septal defect ORPHA:261330
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic... OMIM:153100
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of Virchow-Robin spaces,... ORPHA:261311
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Broad thumb, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventr... ORPHA:251071
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic root aneurysm, Dysplasia of the femoral head, Mitral valve prolapse, Arachnodactyly, Radio... ORPHA:536467
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal de... OMIM:301056
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch ORPHA:79321
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Emphysema,... OMIM:614816
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Campomelia, Cumming Type
Clubbing of toes, Lymphedema, Oligohydramnios, Bowing of the long bones, Brachydactyly, Abnormal ... ORPHA:1318
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Vasculitis, Hypertrophic cardiomyopathy, Dilatation of the cerebral a... ORPHA:365
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Hip dis... ORPHA:1900
Hemochromatosis, Neonatal
Oligohydramnios, Abnormal bleeding, Nonimmune hydrops fetalis OMIM:231100
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short toe, Atelectasis, Short finger, Ascites, Edema, Bowing of the legs, B... OMIM:269860
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Emphysema, Oligo... OMIM:219100
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... OMIM:618652
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Ventricular septal defect ORPHA:49827
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Pul... ORPHA:3427
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Cardiomyopathy OMIM:226100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... ORPHA:508498
Fetal Akinesia Deformation Sequence 1
Thin ribs, Decreased muscle mass, Hip contracture, Elbow ankylosis, Small placenta, Nonimmune hyd... OMIM:208150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of forearm, Short middle... OMIM:616738
Hypocomplementemic Urticarial Vasculitis
Angioedema, Emphysema, Abnormal heart valve morphology, Ascites, Pleural effusion, Arthritis, Per... ORPHA:36412
Hennekam Syndrome
Chylothorax, Finger syndactyly, Arteriovenous malformation, Camptodactyly of finger, Lymphedema, ... ORPHA:2136
Arterial Tortuosity Syndrome
Aortic root aneurysm, Arachnodactyly, Hip dislocation, Hypertrophic cardiomyopathy, Avascular nec... ORPHA:3342
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Mosaic Trisomy 16
Short forearm, Pulmonary hypoplasia, Clinodactyly, Short thumb, Premature birth, Abnormal heart m... ORPHA:1708
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology, Abnormal cardia... ORPHA:2059
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Morgagni diaphragmatic her... OMIM:613177
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Arachnodacty... OMIM:619656
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Cardiomyopathy, Stroke-like episode, Nonimmune hydrops fetalis, Prolonged prothrombin... OMIM:212065
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial septal defect OMIM:249270
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Patent ductus... OMIM:601005
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Mosaic Trisomy 1
Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septal defect, Arachn... ORPHA:1692
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Syncope, Abnormal... ORPHA:60032
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti... OMIM:620025
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Fetal distress, Horizontal ribs, Coarctation of aorta, Pulmonary arterial hypertension, Atrial se... OMIM:614857
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... OMIM:610978
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Distal Triplication 15Q
Abnormal heart morphology, Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus ORPHA:314588
Giant Cell Arteritis
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:397
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... OMIM:616564
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, D... ORPHA:90349
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, E... ORPHA:363618
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:613870
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Ventricular septal defe... OMIM:216340
Ehlers-Danlos Syndrome, Vascular Type
Mitral valve prolapse, Pulmonary bulla, Finger joint hypermobility, Diffuse alveolar hemorrhage, ... OMIM:130050
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale,... ORPHA:163956
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Aortic root aneurysm, Tricuspid regurgitation, Emphysema, ... ORPHA:284979
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension OMIM:210050
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Generalized arterial tortuosity, Congenital diaphragmatic hernia, Hypoplasi... OMIM:614437
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Hypophosphatasia
Emphysema, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metaphys... ORPHA:436
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Strok... ORPHA:79282
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... OMIM:618164
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Cardiomyopathy, Atelectasis, Absent muscle fiber merosin, Reduc... ORPHA:258
Lujo Hemorrhagic Fever
Facial edema, Periorbital edema, Hypotension, Generalized edema, Atelectasis, Shock, Stiff neck, ... ORPHA:319213
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Lymphedema, Telangiectasia of extensor s... OMIM:137940
Fabry Disease
Mitral regurgitation, Arrhythmia, Lymphedema, Hypertrophic cardiomyopathy, Bundle branch block, A... ORPHA:324
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Digeorge Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun... OMIM:188400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... OMIM:214800
Fraser Syndrome 3
Short toe, Abnormal lung lobation, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Cutaneous... OMIM:617667
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect OMIM:618142
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis OMIM:610205
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Marfan Syndrome
Aortic root aneurysm, Mitral regurgitation, Mitral valve prolapse, Limited elbow movement, Arachn... ORPHA:558
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic root aneurysm, Bruis... OMIM:208050
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Patent f... OMIM:617506
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... OMIM:300967
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Abnormal lung lobation, Ventricular septal defect, Coarct... OMIM:300514
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Retinal arteriolar tortuosity, Abnormal pul... ORPHA:567
Williams Syndrome
Peripheral pulmonary artery stenosis, Abnormal cerebral vascular morphology, Hypertrophic cardiom... ORPHA:904
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Bilateral f... OMIM:300868
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy, Atrial sept... OMIM:615355
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Hypertension, Lung adenocarcinoma OMIM:618913
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis OMIM:618223
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... OMIM:612474
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
Charge Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Aortic arch aneurysm, Abnormal aortic valve morphol... ORPHA:138
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Transaldolase Deficiency
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Pate... OMIM:606003
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Emphysema, Ascites, Pulmonary ... ORPHA:538
Keutel Syndrome
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... OMIM:245150
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Bronchiect... OMIM:244400
De Barsy Syndrome
Prominent veins on trunk, Ventricular septal defect, Persistent left superior vena cava, Hypoplas... ORPHA:2962
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Sandal gap, Congenital diaphragmatic hernia, Ventricular septal defect, Ara... OMIM:617602
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Prolonged prothrombin time, Nonimmune hydrops fetalis OMIM:617049
8Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Complete atrioventricular canal defect,... ORPHA:508488
Autoinflammatory Disease, Systemic, With Vasculitis
Premature birth, Cardiomegaly, Small vessel vasculitis, Arthritis, Periorbital edema, Hydrops fet... OMIM:620376
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Short clavicles, Coarctation of aorta, Fused cerv... OMIM:617159
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... OMIM:610168
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Clinodactyly, Abnormal lung lobation, Ventricular septal defect, Coarctatio... OMIM:614114
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Muscular dystrophy, Abnormal lung lobation, Ascites, Increased nuchal trans... ORPHA:1052
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect OMIM:219730
8Q12 Microduplication Syndrome