Gene Summary

Name:
dynein, axonemal assembly factor 3
Synonyms:
6030429G01Rik,  b2b1739Clo

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Dnaaf3em1(IMPC)J HOM   Early adult 0.00
abnormal body wall morphology Dnaaf3em1(IMPC)J HOM E18.5 0.00

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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

14 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Dnaaf3 mutations

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

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

The table below shows human diseases associated to Dnaaf3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dnaaf3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Chronic rhinitis, Reduced forced expiratory volume in one second, Decre... OMIM:618300
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs ... OMIM:605376
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Cough, Dextrocardia, Situs inversus totalis, Abdominal situs invers... OMIM:619607
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Chronic rhinitis, De... OMIM:611884
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Right aortic ... OMIM:617577
Ciliary Dyskinesia, Primary, 25
Sinusitis, Immotile cilia, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... OMIM:615482
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:615451
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Dextrocardia, ... OMIM:615067
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Restrictive ventilatory defect, Dextrocardia, Situs inversus totalis, Vertebral ... OMIM:613686
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615504
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Dextrocardia, Double outlet right ventricle, Bronchiectasis, Cough,... OMIM:618254
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Heterotaxy, Cough, Situs inversus totalis, Bronchiectasi... OMIM:613807
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615505
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Asthma, Dextroc... OMIM:616037
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:614874
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusi... OMIM:300991
Nephronophthisis 16
Patent ductus arteriosus, Cholestasis, Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmo... OMIM:615382
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Neonatal respiratory distress, Br... OMIM:618699
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Marfanoid Habitus With Situs Inversus
Kyphosis, Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, Scoliosis, Obstructive... OMIM:609008
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615444
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis... OMIM:613193
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Abnormal ciliary mo... OMIM:614017
Ciliary Dyskinesia, Primary, 9
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Situs inversus totalis, Bronchi... OMIM:612444
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recur... OMIM:614679
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia,... OMIM:306955
Primary Ciliary Dyskinesia
Double outlet right ventricle, Productive cough, Recurrent sinopulmonary infections, Wheezing, An... ORPHA:244
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:614935
Laterality Defects, Autosomal Dominant
Heterotaxy, Asplenia, Situs inversus totalis OMIM:601086
Ciliary Dyskinesia, Primary, 2
Sinusitis, Immotile cilia, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... OMIM:606763
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Renal-Hepatic-Pancreatic Dysplasia 2
Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, Situs inversus totalis, Pulmonic stenosis... OMIM:615415
Dextrocardia
Pancreatic hypoplasia, Dextrocardia, Situs inversus totalis, Congenital malformation of the great... ORPHA:1666
Ciliary Dyskinesia, Primary, 38
Cough, Dextrocardia, Situs inversus totalis, Bronchiectasis, Rhinitis, Neonatal respiratory distr... OMIM:618063
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Chronic bronchitis, Cough, Situs inversus totalis, Bronchiectasis, Ciliary d... OMIM:613808
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Bilateral trilobed lungs, Total anomalous pulmonary venous return, Patent... OMIM:270100
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Chronic sinusitis, Situs inversus totalis, Ciliary dyskinesia OMIM:612518
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections... OMIM:617092
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Mirror Movements 3
Situs inversus totalis OMIM:616059
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Partial atrioventricular canal defect, ... ORPHA:1330
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Hypoxemia, Patent ductus ar... ORPHA:860
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Pulmonic stenosis, Abdominal situs inversus, Asplenia, Ventricular septal defect, Atrio... OMIM:619123
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Asplenia, Respiratory distress, Polysplenia OMIM:612776
Colonic Atresia
Abdominal situs inversus, Abnormality of mesentery morphology ORPHA:1198
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Isomerism, Atrial septal defect, Dextrotransposition of the great arter... OMIM:619657
Meacham Syndrome
Tetralogy of Fallot, Pulmonary sequestration, Aplasia/Hypoplasia of the lungs, Patent ductus arte... ORPHA:3097
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Meckel Syndrome, Type 7
Biliary cirrhosis, Portal hypertension, Hepatosplenomegaly, Patent ductus arteriosus, Cholestasis... OMIM:267010
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Tachypnea, Abnormal superior vena cav... ORPHA:3384
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Accessory spleen, Atrial septal defect, Scimitar a... OMIM:608978
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Chronic sinusitis, Situs inversus totalis, Primum atrial septal def... OMIM:619608
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Situs inversus totalis, Bronchiectasis, Recurrent br... OMIM:244400
Progressive Non-Infectious Anterior Vertebral Fusion
Scoliosis, Abdominal situs inversus, Hemivertebrae, Kyphosis ORPHA:2062
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Dextrocardia, Situs inversus totalis OMIM:613095
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Absence Of The Pulmonary Artery
Cardiomegaly, Pulmonary edema, Recurrent pneumonia, Patent foramen ovale, Patent ductus arteriosu... ORPHA:980
Double Outlet Right Ventricle
Tetralogy of Fallot, Heterotaxy, Tachypnea, Double outlet right ventricle, Pulmonic stenosis, Coa... ORPHA:3426
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis OMIM:249270
Distal Trisomy 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Left superior vena cava draining dir... OMIM:613759
Primary Pulmonary Hypoplasia
Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal respiratory di... ORPHA:2257
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacit... OMIM:619436
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis ORPHA:1908
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronchiectasis, Ciliary dyski... OMIM:616726
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Hepatomegaly, Pleural effusio... ORPHA:50251
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion, Dextrocardia OMIM:221950
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Mixed total anoma... ORPHA:99125
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmonary venous ... OMIM:617478
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Isomerism, Transposition of the great arteries, Atrioventricular c... OMIM:314390
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Hypoplastic spleen, Tetralogy of Fallot, Patent ductus arteriosus,... OMIM:601186
Familial Visceral Myopathy
Abdominal situs inversus ORPHA:2604
Nephronophthisis 2
Pulmonary hypoplasia, Respiratory insufficiency, Respiratory failure, Situs inversus totalis OMIM:602088
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Joubert Syndrome
Abnormal form of the vertebral bodies, Episodic tachypnea, Abnormal pattern of respiration, Situs... ORPHA:475
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Aplasia/Hypoplasia of the lungs, Abnormal form of the vertebral ... ORPHA:280
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Respiratory insufficiency, Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Agnathia-Otocephaly Complex
Tracheomalacia, Situs inversus totalis, Respiratory distress, Secundum atrial septal defect, Pulm... OMIM:202650
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Respiratory insufficienc... OMIM:601612
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atrial septal defect, Peripheral a... ORPHA:90308
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Abnormal coronary artery morphology, Ventr... ORPHA:3400
Cardiac Diverticulum
Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Mitral stenosis, Ventricular septal... ORPHA:1686
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Asthma, Dilated left subclavian artery... ORPHA:449400
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Ciliary Dyskinesia, Primary, 6
Sinusitis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent respiratory infections, Abnormal ci... OMIM:610852
Pagod Syndrome
Pulmonary artery hypoplasia, Situs inversus totalis, Hypoplastic left heart, Abnormality of the p... ORPHA:991
Proteus Syndrome
Kyphoscoliosis, Venous malformation, Splenomegaly OMIM:176920
Johnson Neuroectodermal Syndrome
Right aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Situs inversus totalis ORPHA:990
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Hallermann-Streiff Syndrome
Respiratory insufficiency, Abdominal situs inversus, Tracheomalacia ORPHA:2108
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Short Rib-Polydactyly Syndrome
Abnormality of the liver, Absent or minimally ossified vertebral bodies, Respiratory failure, Sit... ORPHA:1505
Ciliary Dyskinesia With Excessively Long Cilia
Immotile cilia, Sinusitis, Airway obstruction, Chronic rhinitis, Recurrent bronchitis, Ciliary dy... OMIM:242680
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Accessory spleen, Atrial septal defect, Dysplastic... OMIM:618280
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary artery hypoplasia, Double outlet right ventricle, Right aortic ... ORPHA:2326
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Patent ductus arteriosus, Thoracic aortic aneurysm, Descendin... OMIM:132900
Phaver Syndrome
Abnormal form of the vertebral bodies, Coarctation of aorta, Pulmonary artery atresia, Ventricula... ORPHA:2876
Poland Syndrome
Hemivertebrae, Dextrocardia OMIM:173800
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:745
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Vascular ring, Ventricular sept... OMIM:601927
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Atrial septal defect, Decreased liver function, Coarctation of ao... OMIM:614300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal defect, Abnormal aor... ORPHA:1166
Kaposi Sarcoma
Venous insufficiency, Abnormal lung morphology, Abnormality of the liver, Abnormality of the spleen ORPHA:33276
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Thoracic aortic aneurysm, Intervertebral disc degeneration, Carotid ar... OMIM:619656
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Renpenning Syndrome
Heterotaxy ORPHA:3242
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Sinusitis, Immotile cilia, Chronic rhinitis, Ciliary dysk... OMIM:242670
Transaldolase Deficiency
Abnormal respiratory system physiology, Hepatosplenomegaly, Atrial septal defect, Biventricular h... ORPHA:101028
Mosaic Trisomy 9
Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial fibroelastosis, Atrial sep... ORPHA:99776
Velocardiofacial Syndrome
Tetralogy of Fallot, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Ventricul... OMIM:192430
Familial Multiple Nevi Flammei
Venous insufficiency, Scoliosis, Arteriovenous malformation, Pulmonary embolism ORPHA:624
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Atrial septal defect, Dextrocardia, Co... OMIM:264480
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect OMIM:618929
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Cholestasis, Bile duct proliferation, Dextrocardia, Ventricular septal defect,... OMIM:619534
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:743
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior ve... OMIM:614954
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Recurrent respiratory infections, Ciliary dyskinesia ORPHA:1882
Lymphatic Malformation 7
Atrial septal defect, Respiratory distress, Varicose veins, Pericardial effusion, Pulmonary edema OMIM:617300
8P Inverted Duplication/Deletion Syndrome
Tetralogy of Fallot, Dextrocardia, Aplasia/Hypoplasia of the gallbladder, Abnormal heart morpholo... ORPHA:96092
Ellis Van Creveld Syndrome
Emphysema, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lungs, Atrial septal defect... ORPHA:289
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, Thoracolumbar kyp... OMIM:130090
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hypoplastic left heart, Scoliosis, Ventricular septal defect, Transposition ... ORPHA:1727
Diets-Jongmans Syndrome
Heterotaxy, Ventricular septal defect, Interrupted inferior vena cava with azygous continuation OMIM:618846
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Hypoplasia of lymphatic vessels, Varicose veins, Abnormal lymphatic vessel ... ORPHA:568051
Alg3-Cdg
Coarctation of the descending aortic arch, Cardiomyopathy, Pulmonary hypoplasia, Decreased liver ... ORPHA:79321
Marden-Walker Syndrome
Abnormal anatomic location of the heart, Kyphosis, Abnormal form of the vertebral bodies, Dextroc... ORPHA:2461
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Abnormal aortic ... ORPHA:1120
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
Thymic Carcinoma
Abnormal vena cava morphology, Cough, Dyspnea ORPHA:99868
Marden-Walker Syndrome
Scoliosis, Kyphosis, Dextrocardia, Pulmonary hypoplasia OMIM:248700
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Recurrent pneumonia, Thoracic scoliosis, Restrictive ventilatory defect,... ORPHA:1900
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Distal Tetrasomy 15Q
Kyphosis, Patent ductus arteriosus, Atrial septal defect, Abnormal heart morphology, Scoliosis, H... ORPHA:314588
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Dextrocardia, Abnormal pattern of respiration, Scoliosis, Apnea ORPHA:220493
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Dextrocardia, Abnormal aortic valve morphology, Abnormal vertebral morpholo... ORPHA:261197
Milroy Disease
Abnormal venous morphology, Varicose veins ORPHA:79452
Holt-Oram Syndrome
Kyphosis, Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Scoliosis, Vent... ORPHA:392
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, Thoracic aortic aneurysm OMIM:616166
Renpenning Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis, Scoliosis, Ventricular septal ... OMIM:309500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pu... OMIM:612541
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Scoliosis, Splenomegaly OMIM:612918
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pancreas, Abnormality of the pulmonary artery, Ventricula... ORPHA:1926
Czeizel-Losonci Syndrome
Spina bifida occulta, Thoracolumbar scoliosis, Dextrocardia, Pulmonary hypoplasia ORPHA:2437
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Double outlet r... OMIM:217095
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Situs inversus totalis, Congenital hepatic fibrosis, Cystic l... ORPHA:564
Transaldolase Deficiency
Hepatosplenomegaly, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Asthma,... OMIM:606003
Fixed Subaortic Stenosis
Patent ductus arteriosus, Bacterial endocarditis, Pulmonic stenosis, Coarctation of aorta, Dyspne... ORPHA:3092
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Tetralogy of Fallot, Patent foramen ovale, Double outlet left ... ORPHA:2255
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Carpenter Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Dextrocardia, Situs inversus totalis, Transpositi... OMIM:614976
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus ORPHA:2516
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology, Pulmonary hypop... ORPHA:2059
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Abnormality of the pancreas, Dextrocardia, Abnormal cardiac se... ORPHA:2315
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Digeorge Syndrome
Cholelithiasis, Tetralogy of Fallot, Recurrent pneumonia, Hepatic steatosis, Patent ductus arteri... OMIM:188400
Liposarcoma
Varicose veins ORPHA:69078
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Patent ductus arteriosus, Ascending aorta hypoplasia, Dyspnea... ORPHA:141127
Varicose Veins
Varicose veins OMIM:192200
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Absent gallbladder, Patent foramen ovale, Double outlet left ventricle, Hypo... OMIM:600001
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Pleural effusion, Hepatomegaly, Dyspnea, Abnormal vena cava morphology,... ORPHA:1677
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Venous malformation, Varicose veins OMIM:613089
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Thymic Neuroendocrine Tumor
Abnormal breath sound, Prominent veins on trunk, Cough, Abnormal vena cava morphology, Pancreatic... ORPHA:97289
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Dilated cardiomyopathy, Hepatic failure, Cholestasis, Atrial s... OMIM:243800
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Hypoplastic aortic arch, Abnormal cardiac ventricle morphology ORPHA:261311
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Abdominal aortic aneurysm, Aortic root aneurysm, Coronary artery atheroscle... OMIM:617168
Monosomy 18Q
Pulmonary valve defects, Patent ductus arteriosus, Aortic aneurysm, Secundum atrial septal defect... ORPHA:1600
Enlarged Parietal Foramina
Venous malformation ORPHA:60015
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve, Coarctation of aorta OMIM:614823
De Barsy Syndrome
Patent ductus arteriosus, Prominent veins on trunk, Ventricular septal defect, Recurrent sinopulm... ORPHA:2962
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Dextrocardia, Aortic aneurysm, Scoliosis, Bicuspid aortic valve, Kypho... ORPHA:536545
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Viss Syndrome
Carotid artery tortuosity, Double outlet right ventricle, Scoliosis, Ventricular septal defect, E... OMIM:619472
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Abnormal heart morphology, Varicose veins, Aortic dissection OMIM:618343
Atrial Septal Defect 1
Atrial septal defect, Subvalvular aortic stenosis, Atrial septal dilatation, Ventricular septal d... OMIM:108800
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries OMIM:313850
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Cholelithiasis, Tetralogy of Fallot, Abnormal aortic arch mo... ORPHA:567
Knobloch Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:1571
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Hyperventilation, Ventricular septal defect, Pericar... OMIM:618775
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Varicose veins, Ventricular septal defect, Patent ductus arteriosus OMIM:153400
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Patent foramen ovale, Patent ductus arteriosus, Hypertrophic cardiomyopathy, H... ORPHA:17
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent foramen ovale, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Perip... OMIM:617506
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Parkes Weber Syndrome
Arteriovenous fistula, Vascular tortuosity, Peripheral arteriovenous fistula, Cerebral arterioven... ORPHA:90307
Autosomal Dominant Spastic Paraplegia Type 10
Scoliosis, Varicose veins ORPHA:100991
Tetrasomy 9P
Absent gallbladder, Patent foramen ovale, Abnormal mitral valve morphology, Juxtaductal coarctati... ORPHA:3310
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Patent ductus arteriosus, Atrial septal defect, Pancreatic hypoplasia, Spleno... OMIM:602782
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Coarctation of aorta, Hypoplastic left heart, ... ORPHA:402075
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Varicose veins OMIM:263400
Lymphatic Malformation 6
Chylothorax, Intestinal lymphangiectasia, Atrial septal defect, Splenomegaly, Pleural effusion, S... OMIM:616843
Distal Monosomy 15Q
Abnormal aortic arch morphology, Patent ductus arteriosus, Double outlet right ventricle with dou... ORPHA:1596
Microphthalmia, Syndromic 2
Aortic valve stenosis, Patent ductus arteriosus, Atrial septal defect, Dextrocardia, Double outle... OMIM:300166
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect, Tracheomalacia ORPHA:513456
Proteus-Like Syndrome
Bronchogenic cyst, Splenomegaly, Venous insufficiency ORPHA:2969
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Charge Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Dysplastic... OMIM:214800
Clapo Syndrome
Venous malformation, Varicose veins ORPHA:168984
Poland Syndrome
Abnormality of the liver, Kyphosis, Atrial septal defect, Dextrocardia, Scoliosis, Spina bifida o... ORPHA:2911
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Scoliosis ORPHA:276280
Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, In... OMIM:300712
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Varicose veins OMIM:125310
Hepatocellular Carcinoma
Abnormality of the liver, Portal hypertension, Hepatomegaly, Jaundice, Dyspnea, Venous insufficie... ORPHA:88673
Restrictive Dermopathy
Thoracic kyphoscoliosis, Patent ductus arteriosus, Atrial septal defect, Dextrocardia, Transposit... ORPHA:1662
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Bacterial endocarditis, Splenomegaly, Spontaneous, recurrent ... ORPHA:2072
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatoblastoma, Abnormal aortic arch morphology, Hepatosplenomegaly, Restrictive ventilatory defe... ORPHA:96334
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Re... ORPHA:163979
1Q21.1 Microdeletion Syndrome
Scoliosis, Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Tricuspid valve prolapse, Pulmonary arterial hypertension, Abnormal aortic ... ORPHA:2396
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphosis, Aortic root aneurysm, Prominent veins on trunk, Carotid artery sten... ORPHA:536532
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrioventricular canal defect, Hypertrophic cardio... ORPHA:251071
Glomuvenous Malformation
Venous malformation, Gastrointestinal arteriovenous malformation, Arteriovenous malformation ORPHA:83454
Ring Chromosome 7 Syndrome
Lumbar kyphoscoliosis, Situs inversus totalis ORPHA:1449
Loeys-Dietz Syndrome 2
Scoliosis, Spontaneous pneumothorax, Patent ductus arteriosus, Aortic root aneurysm, Descending a... OMIM:610168
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Pulmonary ... OMIM:613426
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Varicose veins OMIM:314300
Foix-Alajouanine Syndrome
Venous malformation, Arteriovenous fistula ORPHA:79093
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Patent ductus arteriosus, Atrial septal defect, Asthma, Pulmonic stenosis, Coarctation... ORPHA:353281
Feingold Syndrome Type 1
Tricuspid atresia, Patent ductus arteriosus, Tricuspid stenosis, Multiple muscular ventricular se... ORPHA:391641
Angioosteohypertrophic Syndrome
Peripheral arteriovenous fistula, Pulmonary embolism, Tricuspid valve prolapse, Venous insufficie... ORPHA:2346
Craniofacial Microsomia
Tetralogy of Fallot, Block vertebrae, Vertebral hypoplasia, Patent ductus arteriosus, Coarctation... OMIM:164210
Loeys-Dietz Syndrome 3
Scoliosis, Ventricular hypertrophy, Left ventricular hypertrophy, Patent ductus arteriosus, Desce... OMIM:613795
Livedoid Vasculopathy
Venous insufficiency, Abnormal capillary morphology, Varicose veins ORPHA:542643
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm, Splenomegaly, Hepatomegaly,... OMIM:135500
Meige Disease
Varicose veins, Pleural effusion ORPHA:90186
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Varicose veins, Patent ductus arteriosus ORPHA:33001
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricl... ORPHA:163956
Floating-Harbor Syndrome
Atrial septal defect, Persistent left superior vena cava, Mesocardia, Coarctation of aorta OMIM:136140
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Tachypnea, Pulmonary arterial hypertension, D... OMIM:613834
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malformation, Aorti... OMIM:175050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Aspiration, Atrial septal defect, Asth... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Aspiration, Atrial septal defect, Asth... ORPHA:353277
Renal Nutcracker Syndrome
Vulval varicose vein, Dilatation of mesenteric artery, Varicose veins, Renal artery stenosis ORPHA:71273
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch, Scoliosis ORPHA:457284
Perlman Syndrome
Interrupted aortic arch, Pancreatic islet-cell hyperplasia OMIM:267000
Harrod Syndrome
Varicose veins OMIM:601095
Menkes Disease
Venous insufficiency, Prolonged neonatal jaundice, Arterial stenosis, Vascular dilatation, Abnorm... ORPHA:565
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Ascending aortic dissection, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hem... OMIM:130050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatic steatosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Aspiration, Subvalvular ... OMIM:619503
Aortic Arch Interruption
Aortic valve atresia, Aortopulmonary window, Patent ductus arteriosus, Tachypnea, Double outlet r... ORPHA:2299
H Syndrome
Hepatosplenomegaly, Chronic rhinitis, Bronchiectasis, Recurrent pharyngitis, Varicose veins ORPHA:168569
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Patent ductus arteriosus, Ventricular septal defect, Abnormal... OMIM:146510
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, Cerebral arteriovenous malformation, Dilata... OMIM:610655
Occipital Horn Syndrome
Kyphosis, Cholestasis, Jaundice, Platyspondyly, Venous insufficiency, Scoliosis, Hepatitis, Vascu... ORPHA:198
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Recurrent upper respiratory tract infections, Abnormal heart... ORPHA:580
Charge Syndrome
Aortic arch aneurysm, Tetralogy of Fallot, Patent ductus arteriosus, Abnormal aortic valve morpho... ORPHA:138
Rubinstein-Taybi Syndrome 1
Recurrent upper respiratory tract infections, Patent ductus arteriosus, Atrial septal defect, Vas... OMIM:180849
Familial Cerebral Cavernous Malformation
Venous malformation, Scoliosis ORPHA:221061
Constricting Bands, Congenital
Abnormal lung lobation, Scoliosis, Ectopia cordis OMIM:217100
Telangiectasia, Hereditary Hemorrhagic, Type 1
Venous varicosities of celiac and mesenteric vessels, Restrictive ventilatory defect, Reduced FEV... OMIM:187300
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Mitral valve prolapse, Ventricular septal defect OMIM:617107
Mucopolysaccharidosis Type 2, Severe Form
Abnormal pulmonary valve morphology, Recurrent upper respiratory tract infections, Abnormal heart... ORPHA:217085
8Q24.3 Microdeletion Syndrome
Complete atrioventricular canal defect, Truncus arteriosus, Exocrine pancreatic insufficiency, Th... ORPHA:508488
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal pulmonary valve morphology, Recurrent upper respiratory tract infections, Abnormal heart... ORPHA:217093
Floating-Harbor Syndrome
Tetralogy of Fallot, Mesocardia, Atrial septal defect, Coarctation of aorta, Kyphoscoliosis, Pers... ORPHA:2044
Alport Syndrome
Cough, Recurrent bronchitis, Dyspnea, Aortic aneurysm, Stridor, Abnormal aortic morphology, Renal... ORPHA:63
Limb Body Wall Complex
Progressive congenital scoliosis, Abnormality of the liver, Ectopia cordis, Atrial septal defect,... ORPHA:2369
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Spina bifida occulta, Varicose ve... ORPHA:500095
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Atrial septal defect, Pulmonary artery sling, V... OMIM:619268
Igg4-Related Kidney Disease
Sclerosing cholangitis, Cholecystitis, Interstitial pneumonitis, Pancreatitis, Decreased liver fu... ORPHA:449395
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Venous insufficiency, Scoliosis, Ascending tubular aorta aneurysm, Apnea ORPHA:285
1P36 Deletion Syndrome
Aortic arch aneurysm, Dilated cardiomyopathy, Tetralogy of Fallot, Hepatic steatosis, Abnormal he... ORPHA:1606
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Arteriovenous fistula, Peripheral arteriovenous fistula, Sleep a... ORPHA:286
Microphthalmia With Limb Anomalies
Venous insufficiency, Abnormal form of the vertebral bodies ORPHA:1106
Turner Syndrome
Aortic arch aneurysm, Hepatic steatosis, Biliary cirrhosis, Kyphosis, Atrial septal defect, Aorti... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Hepatic steatosis, Biliary cirrhosis, Kyphosis, Atrial septal defect, Aorti... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Hepatic steatosis, Biliary cirrhosis, Kyphosis, Atrial septal defect, Aorti... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Hepatic steatosis, Biliary cirrhosis, Kyphosis, Atrial septal defect, Aorti... ORPHA:99413
Gitelman Syndrome
Respiratory distress, Varicose veins, Pericardial effusion, Neoplasm of the pancreas ORPHA:358
Williams Syndrome
Scoliosis, Ventricular septal defect, Arterial stenosis, Cardiomegaly, Abnormal carotid artery mo... ORPHA:904
Norrie Disease
Venous insufficiency, Scoliosis ORPHA:649
Mowat-Wilson Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Pul... OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Pulmonic stenosis, Coarctation of aorta... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Patent ductus arteriosus, Pulmonic sten... ORPHA:261552
Mowat-Wilson Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta, Abnormal ... ORPHA:2152

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 Dnaaf3

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 Dnaaf3.

No publications found that use IMPC mice or data for Dnaaf3.

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MGI Allele Allele Type Produced
Dnaaf3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dnaaf3em1(IMPC)J Exon Deletion Mice
Dnaaf3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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