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Gene: Lefty2 MGI:2443573

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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:
left-right determination factor 2
Synonyms:
Leftb,  Ebaf,  6030463A22Rik

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 Lefty2 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 Lefty2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... ORPHA:244
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea... OMIM:314390
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia OMIM:612776
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Intestinal malrotation, Meningocele, Duodenal stenosis, Abnormal tric... ORPHA:1759
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Gastroesophageal reflux, Dextrocardia, Polysplenia OMIM:615482
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao... OMIM:217085
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplenia... OMIM:270100
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Polysplenia OMIM:613807
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... OMIM:190685
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Cleft palate, Spinal dysraphism, Abnormal... ORPHA:1926
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... OMIM:619418
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... OMIM:264480
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplastic t... OMIM:600001
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An... ORPHA:1335
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia ORPHA:2863
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Vascular dilatation, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymu... OMIM:613177
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... OMIM:265380
Chromosome 16P13.3 Deletion Syndrome, Proximal
High palate, Hypoplastic left heart, Polysplenia OMIM:610543
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Hypoplastic left heart, P... OMIM:220210
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... ORPHA:2255
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... ORPHA:251071
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septal defect,... ORPHA:3304
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, High palate, Transposi... OMIM:201000
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... ORPHA:3405
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, Paten... OMIM:618316
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... OMIM:617877
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Patent ductus arteriosus, Dysplastic tricuspid valve, Submucous cleft hard p... OMIM:612863
Distal Duplication 17Q
Accessory spleen, High palate, Cleft palate, Abnormal heart morphology ORPHA:3379
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Intestinal malrotation, Malformation of the hepatic du... OMIM:249000
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula... OMIM:614294
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Meckel Syndrome
Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inv... ORPHA:564
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... OMIM:300972
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect OMIM:619306
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Ververi-Brady Syndrome
High palate, Transposition of the great arteries OMIM:617982
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition of the great arteries, Ectopia... OMIM:313850
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Thakker-Donnai Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... ORPHA:1780
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Hamartoma of tongue, Esophageal diverticulum, Complete atrioventricular canal... OMIM:617925
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Rubinstein-Taybi Syndrome 1
High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High palate, Gastroesophageal... OMIM:180849
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Carpenter Syndrome
Umbilical hernia, Patent ductus arteriosus, Polysplenia ORPHA:65759
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Poland Syndrome
Dextrocardia OMIM:173800
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Stillbirth, Duodenal atr... OMIM:243605
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... OMIM:277380
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... ORPHA:90308
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, D... OMIM:617063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... OMIM:253800
Johanson-Blizzard Syndrome
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Abnormal cardia... ORPHA:2315
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... OMIM:614886
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane... ORPHA:1667
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, High palate, Dextrocardia, Coarctation of aorta OMIM:618929
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Holoprosencephaly 11
Cleft palate, Polysplenia OMIM:614226
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Asplenia,... ORPHA:99776
Hamamy Syndrome
Microcytic anemia, Complete atrioventricular canal defect, High palate, Hypochromic anemia, Atria... OMIM:611174
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Cleft palate ORPHA:2257
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, High palate ORPHA:476126
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Intestinal polyposis, Atrioventricular canal defect, Tricuspid valve pr... ORPHA:276413
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly,... OMIM:236680
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Megarectum, Leukopenia, P... OMIM:301056
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... ORPHA:261197
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... OMIM:616652
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... ORPHA:2847
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... OMIM:612946
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... ORPHA:2326
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Faciocardiorenal Syndrome
Cleft palate, Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladd... ORPHA:96092
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val... OMIM:609942
Leopard Syndrome 1
Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse, Pulmonic stenosis, S... OMIM:151100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular... ORPHA:508488
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
High palate, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Intestinal malrotation, High, narrow... ORPHA:7
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology ORPHA:2412
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus,... OMIM:613610
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop... OMIM:618624
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... OMIM:229850
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Malrotation of small bowel, Biliary tract abnormalit... OMIM:194190
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Pyloric stenosis, Anal atresia OMIM:618419
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Distal Deletion 19P
Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Umbilical hernia, Pulmonary va... ORPHA:96129
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:280000
Marden-Walker Syndrome
Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi... OMIM:248700
Acitretin/Etretinate Embryopathy
Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Median ... ORPHA:40366
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Tracheoesophageal fistula, High palate, Spina bifid... ORPHA:2437
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis OMIM:619881
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Fanconi Anemia, Complementation Group W
Polysplenia, Duodenal atresia OMIM:617784
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th... ORPHA:3474
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A... OMIM:619123
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia ORPHA:96097
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Lymphangioma ORPHA:1571
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia ORPHA:1381
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aortic dissection, Aortic... OMIM:616166
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Proteus Syndrome
Lymphangioma, Splenomegaly, Venous malformation OMIM:176920
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Patent ductus arteriosus, Narrow palate, Cleft palate, T lymphocytopenia, ... OMIM:618223
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Dextrocardia, Cleft palate ORPHA:220493
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Patent ductus arteriosus, Frontal encephalocele, Bil... OMIM:268300
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Giant Cell Arteritis
Glossitis, Pericarditis, Mediastinal lymphadenopathy, Vasculitis, Gastrointestinal infarctions, A... ORPHA:397
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Leuk... ORPHA:2331
Mirror Movements 3
Situs inversus totalis OMIM:616059
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Gastrointestin... ORPHA:391641
Bifid Nose With Or Without Anorectal And Renal Anomalies
Anteriorly placed anus, Ebstein anomaly of the tricuspid valve, Rectovaginal fistula OMIM:608980
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatoblastoma, Atrial septal defect, Hepatomegaly, Exaggerated median tongue furrow, Patent duct... OMIM:312870
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Isolated Splenogonadal Fusion
Ectopia of the spleen, Polysplenia ORPHA:457083
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... OMIM:301043
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Splenomegaly, High, narrow palate, Cleft... ORPHA:373
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Neutropenia, ... ORPHA:163956
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn... ORPHA:33276
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... OMIM:192350
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Restrictive Dermopathy
Dextrocardia, Large placenta, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tu... ORPHA:1662
Neonatal Marfan Syndrome
High, narrow palate, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubu... ORPHA:284979
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Neurooculorenal Syndrome
Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of... OMIM:620305
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnor... ORPHA:485405
Charge Syndrome
Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Aplasia/Hypoplasia... OMIM:214800
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Cleft pa... ORPHA:1724
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, High, narrow palate, Pyloric stenosis, Midgut malrotation, C... ORPHA:2409
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate, Stillbirth, Tran... OMIM:256520
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat... OMIM:614976
Prune Belly Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Atrial septal defect... ORPHA:2970
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s... ORPHA:100078
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl... OMIM:616145
Chromosome 3Pter-P25 Deletion Syndrome
Gastroesophageal reflux, Atrioventricular canal defect, High palate, Anal atresia OMIM:613792
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef... ORPHA:2461
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Cleft... ORPHA:1908
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatic steatosis, Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertensi... OMIM:619503
Diets-Jongmans Syndrome
Ventricular septal defect, Heterotaxy, Interrupted inferior vena cava with azygous continuation, ... OMIM:618846
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Abdominal situs ambiguus OMIM:617092
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Macroglossia, High palate... ORPHA:261337
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... OMIM:602782
Microphthalmia, Syndromic 9
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Multilobulated sple... OMIM:601186
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect OMIM:243440
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Hep... ORPHA:84064
Renpenning Syndrome
Heterotaxy, Cleft palate, High, narrow palate, Anal atresia ORPHA:3242
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr... OMIM:249420
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He... OMIM:612541
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Spina bifida occulta, Mitra... ORPHA:500
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus OMIM:614874
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Submu... OMIM:300166
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal left ventricle... ORPHA:466791
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... OMIM:619472
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Umbilical hernia, High, narrow palate, Tricuspid valve prolapse ORPHA:1101
Congenital Contractural Arachnodactyly
Intestinal malrotation, Tracheoesophageal fistula, Aortic aneurysm, Mitral valve prolapse, High p... ORPHA:115
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate OMIM:619895
Marfan Syndrome
Bicuspid aortic valve, Mitral annular calcification, Narrow palate, Mitral valve prolapse, Ascend... OMIM:154700
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, High palate, Umbil... ORPHA:536545
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect... ORPHA:100079
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Ectopic anus, Cleft palate ORPHA:2549
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis OMIM:614185
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Rectal prolapse, Mitral valve prolapse, Dilatation of the cerebral artery, Aortic ... ORPHA:287
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cleft palate, Mitral valve prolapse, High palate, Tricuspi... OMIM:601776
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis OMIM:614017
Tetrasomy 9P
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Jaundice, B... ORPHA:3310
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation ORPHA:2328
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... OMIM:175050
Turnpenny-Fry Syndrome
Patent ductus arteriosus, Mitral valve prolapse, High palate, Gastroesophageal reflux, Tricuspid ... OMIM:618371
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Gast... ORPHA:453499
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis OMIM:612518
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed anus, Bone ma... OMIM:615272
Melnick-Needles Syndrome
Cleft palate, Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:612562
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Mitral valve prolapse, Aortic dissection, Arterial dissection, Umbilical her... ORPHA:1900
Kabuki Syndrome 2
Cleft palate, Coarctation of aorta, High palate, Pulmonic stenosis, Atrial septal defect, Atriove... OMIM:300867
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... ORPHA:2556
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Lymphangioma, Arteriovenous malformation ORPHA:137608
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Cleft palate, Abnormal cerebral vein morphology, Venou... ORPHA:60015
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... ORPHA:2473
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... ORPHA:1677
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Thymic Carcinoma
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy ORPHA:99868
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Cleft palate, Coarctation of aorta, Atrial septal def... ORPHA:2008
Congenital Tricuspid Stenosis
Tricuspid stenosis, Bacterial endocarditis ORPHA:95459
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Cleft pala... ORPHA:2369
Lymphatic Malformation 7
Pericardial effusion, Atrial septal defect, Anemia, Varicose veins OMIM:617300
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... ORPHA:980
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septu... ORPHA:96147
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Poland Syndrome
Encephalocele, Dextrocardia, Acute leukemia, Abnormality of the liver, Atrial septal defect, Spin... ORPHA:2911
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Large p... OMIM:222470
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Esophageal atresia, Ebstein anomaly of the tricuspid valve, High palat... ORPHA:506358
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology, Functional intestinal obstruction ORPHA:199276
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage ORPHA:624
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Eosinophilia, Spina bifida, Pancreatic cysts, Thr... OMIM:274000
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Tetralogy of F... OMIM:153400
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... ORPHA:95430
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect OMIM:619135
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... ORPHA:217085
Lymphatic Malformation 6
Splenomegaly, Varicose veins, Gastroesophageal reflux, Atrial septal defect, Intestinal lymphangi... OMIM:616843
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Gas... OMIM:619480
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... ORPHA:217093
22Q11.2 Deletion Syndrome
Anorectal anomaly, Abnormal aortic arch morphology, Hypoplasia of the thymus, Gastroesophageal re... ORPHA:567
Geleophysic Dysplasia 1
Hepatomegaly, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Aplasia of the epiglottis, Coarctation of a... OMIM:617088
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med... ORPHA:97289
Velocardiofacial Syndrome
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat... OMIM:192430
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Dilatation of the cerebral art... ORPHA:730
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina bifida, Coarctation o... ORPHA:508498
Coffin-Lowry Syndrome
Narrow palate, High palate, Abnormal tricuspid valve morphology, Abnormal aortic valve morphology... ORPHA:192
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Meningocele, Pulm... ORPHA:991
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Cleft palate OMIM:217100
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Bifid tongue, Abnormal aortic mor... ORPHA:1507
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... OMIM:600460
Codas Syndrome
Ventricular septal defect, Gastroesophageal reflux, Rectovaginal fistula, Atrial septal defect, A... OMIM:600373
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... ORPHA:97214
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... OMIM:609192
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Pancytopenia, Aortic valve calcification, Abnormality of the spleen, ... ORPHA:2072
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Pseudobulbar p... OMIM:125310
Distal Deletion 3P
Umbilical hernia, Atrioventricular canal defect, High palate, Cleft palate ORPHA:1620
Kleefstra Syndrome 1
Macroglossia, Gastroesophageal reflux, Conotruncal defect, Protruding tongue OMIM:610253
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection OMIM:618343
Classical-Like Ehlers-Danlos Syndrome Type 2
Long uvula, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve... ORPHA:536532
Doors Syndrome
Cleft palate, Sirenomelia, Narrow palate, High palate, Gastroesophageal reflux, Thrombocytosis, D... ORPHA:79500
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Livedoid Vasculopathy
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... ORPHA:542643
Liposarcoma
Varicose veins ORPHA:69078
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Venous malformation, Spinal dysraphism OMIM:612918
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... OMIM:118450
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Neoplasm of the... ORPHA:3047
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Proteus-Like Syndrome
Venous insufficiency, Splenomegaly, Thymus hyperplasia ORPHA:2969
Clapo Syndrome
Lymphangioma, Varicose veins, Venous malformation ORPHA:168984
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft... OMIM:100300
Robinow Syndrome
Ventricular septal defect, Bifid tongue, Abnormal heart morphology, Coarctation of aorta, Ankylog... ORPHA:97360
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Patent ductus arteriosus, Abn... ORPHA:818
Varicose Veins
Varicose veins OMIM:192200
Floating-Harbor Syndrome
Celiac disease, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persist... OMIM:136140
Foix-Alajouanine Syndrome
Myelopathy, Cervical myelopathy, Arteriovenous fistula, Venous malformation ORPHA:79093
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... OMIM:617107
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Floating-Harbor Syndrome
Celiac disease, Tetralogy of Fallot, Coarctation of aorta, Gastroesophageal reflux, Atrial septal... ORPHA:2044
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, High pal... OMIM:143095
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Menkes Disease
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial... ORPHA:565
Isolated Cleft Lip
Situs inversus totalis, Umbilical hernia, Velopharyngeal insufficiency ORPHA:199302
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph... ORPHA:276280
Orofaciodigital Syndrome Type 2
Hamartoma of tongue, Velopharyngeal insufficiency, Central retinal vessel vascular tortuosity, Cl... ORPHA:2751
H Syndrome
Microcytic anemia, Malabsorption, Lymphadenopathy, Hepatosplenomegaly, Varicose veins, Histiocytosis ORPHA:168569
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Meige Disease
Varicose veins, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate amin... OMIM:243800
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins ORPHA:100991
Occipital Horn Syndrome
Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Abnor... ORPHA:198
Renal Nutcracker Syndrome
Vulval varicose vein, Varicose veins, Renal artery stenosis, Anemia, Dilatation of mesenteric artery ORPHA:71273
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Cleft palate ORPHA:33001
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Varicose veins OMIM:314300
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... OMIM:187300
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Microglossia, Cleft palate, Coarctation of a... ORPHA:672
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Abnormal heart valve morphology, Arterial dissection, Transient... ORPHA:286
Ehlers-Danlos Syndrome, Vascular Type
Descending aortic dissection, Mitral valve prolapse, Varicose veins, Dilatation of the cerebral a... OMIM:130050
Gitelman Syndrome
Pericardial effusion, Varicose veins, Iron deficiency anemia, Neoplasm of the pancreas ORPHA:358
Hypermobile Ehlers-Danlos Syndrome
Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Ascending t... ORPHA:285
Microphthalmia With Limb Anomalies
Venous insufficiency, High palate, Cleft palate ORPHA:1106
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Norrie Disease
Venous insufficiency ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lefty2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lefty2.

No publications found that use IMPC mice or data for Lefty2.

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