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Gene: Dll4 MGI:1859388

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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:
delta like canonical Notch ligand 4
Synonyms:
Delta4

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 Dll4 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 Dll4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Arteriovenous malformati... ORPHA:974
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Aplasia Cutis Congenita
Facial palsy, Spinal dysraphism ORPHA:1114

The table below shows human diseases predicted to be associated to Dll4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous fistula, Arteriovenous malformation OMIM:608354
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Arterial Dissection-Lentiginosis Syndrome
Arterial dissection, Arteriovenous malformation ORPHA:1682
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Cerebral Arteriovenous Malformation
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:46724
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Patent ductus arteriosus, Weak grip, Distal amyotrophy, Distal uppe... OMIM:619519
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... ORPHA:229
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... ORPHA:60041
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Edema, Venous insufficiency, Patent ductus arteriosus, Hydrops ... ORPHA:90308
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosi... OMIM:249670
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Edema ORPHA:624
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Arteriovenous fistula OMIM:600419
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... OMIM:126320
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology, Intrauterine growt... ORPHA:1110
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Sub... ORPHA:53719
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula ORPHA:141179
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis ORPHA:79094
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula ORPHA:141184
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation ORPHA:53721
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Blue Rubber Bleb Nevus
Arteriovenous malformation ORPHA:1059
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... ORPHA:97339
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,... ORPHA:137667
Phakomatosis Pigmentovascularis
Arteriovenous malformation ORPHA:2875
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ... OMIM:616276
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... OMIM:614702
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Frontal encephalocele, Congenital diaphragmatic hernia, Aortic aneurysm ORPHA:261102
Mucopolysaccharidosis Type 7
Lymphedema, Hydrops fetalis, Arteriovenous malformation, Umbilical hernia, Ascites ORPHA:584
Melorheostosis
Peripheral arteriovenous fistula, Lymphedema ORPHA:2485
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Arteriovenous malformati... ORPHA:974
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... ORPHA:247691
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformation, Intrauterine growth reta... ORPHA:1556
Pelizaeus-Merzbacher Disease
Short stature, Arteriovenous malformation ORPHA:702
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Scimitar Syndrome
Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,... ORPHA:185
Congenital Myopathy 11
Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Weakness of facial musculature, P... OMIM:619967
Currarino Syndrome
Arteriovenous malformation ORPHA:1552
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... OMIM:620070
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... OMIM:617044
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... OMIM:115197
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Pentasomy X
Short stature, Camptodactyly of finger, Patent ductus arteriosus, Abnormal cardiac septum morphol... ORPHA:11
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arteriovenous malformation ORPHA:60040
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hypertrophic ca... OMIM:618775
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Phace Association
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ... OMIM:606519
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... ORPHA:568051
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short stature OMIM:618330
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Li-Campeau Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ... OMIM:619189
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Foix-Alajouanine Syndrome
Myelopathy, Cervical myelopathy, Arteriovenous fistula, Venous malformation ORPHA:79093
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis ORPHA:1192
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Lymphedema, Intracranial hemorrhage, Arteriovenous malformation, Aortic aneurysm ORPHA:109
Hennekam Syndrome
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, ... ORPHA:2136
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... OMIM:601927
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Growth delay, Pleural effusion... ORPHA:90362
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Polyhydramnios, Patent ductus arteriosus, Flexi... OMIM:616867
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... ORPHA:36412
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Takayasu Arteritis
Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Hypertension, Ascendin... ORPHA:3287
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Desc... ORPHA:91387
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Partial Atrioventricular Septal Defect
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Fanconi Anemia
Short stature, Spina bifida, Patent ductus arteriosus, Growth delay, Intrauterine growth retardat... ORPHA:84
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Hereditary Hemorrhagic Telangiectasia
Peripheral arteriovenous fistula, Transient ischemic attack, Cerebral hemorrhage, Abnormal cerebr... ORPHA:774
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm ORPHA:98892
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... OMIM:235510
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Klippel-Trenaunay-Weber Syndrome
Arteriovenous fistula, Lymphedema OMIM:149000
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Patent ductus arteriosus, A... ORPHA:1120
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of ... OMIM:608978
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Left ventricular noncompaction OMIM:616501
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... ORPHA:3400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Patent ductus arteriosus, Hypoplastic left heart, Short stature OMIM:617661
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... ORPHA:3092
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Patent ductus arteriosus, Hypoplastic left heart ORPHA:1972
Noonan Syndrome 8
Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Pleural effus... OMIM:615355
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Abnormal cardiac v... ORPHA:2306
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Short stature, Patent ductus a... OMIM:619657
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Macular coloboma, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch OMIM:107550
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... ORPHA:980
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly, Atrial septal defect, Intrauter... OMIM:614846
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pedal edema, Abnormal pulmonary vein morphology, Pleural effusion, Pulmonar... ORPHA:199241
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... ORPHA:99050
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicose veins, Abnormal venous mor... ORPHA:79452
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhyd... OMIM:616843
Superficial Siderosis
Abnormal vertebral artery morphology, Arteriovenous malformation, Subarachnoid hemorrhage ORPHA:247245
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Coronary artery calcification, Congestive heart failure, Carotid artery ca... OMIM:208000
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... ORPHA:536532
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Mit... ORPHA:1900
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Pulmonary arteriovenous fistulas, Pleural empyema, Ischemic stroke, Ba... ORPHA:2038
Classic Homocystinuria
Intracranial hemorrhage, Arteriovenous malformation ORPHA:394
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Proteus Syndrome
Venous malformation OMIM:176920
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Patent ductus arteriosus, Flexion contrac... OMIM:616866
Aicardi-Goutieres Syndrome 9
Pericarditis, Edema, Pericardial effusion, Left ventricular hypertrophy, Intrauterine growth reta... OMIM:619487
Q Fever
Pericarditis, Abnormal heart valve morphology, Abnormal vascular morphology, Pericardial effusion... ORPHA:781
Microphthalmia, Syndromic 9
Atrial septal defect, Severe short stature, Ventricular septal defect, Short stature, Congenital ... OMIM:601186
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Proportionate short stature, Patent d... ORPHA:488618
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation, Edema ORPHA:75508
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-like episode, Cardio... OMIM:212065
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Growth delay, Delayed puberty, Abnormal myocardium morphology,... ORPHA:77259
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Juvenile Polyposis Syndrome
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... ORPHA:2929
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Peripheral edema ORPHA:79126
Aymé-Gripp Syndrome
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Patent ductus ar... ORPHA:1272
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:93552
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... OMIM:618164
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion, Epidural hemorrhage, Abnormal lymphatic vessel morphology ORPHA:464329
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Choroidal neovascularization, Angina pe... OMIM:264800
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... OMIM:306955
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Coarcta... OMIM:139210
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Patent ductus ar... OMIM:602782
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri... ORPHA:90186
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... OMIM:270100
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor... OMIM:605275
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... ORPHA:26793
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Noonan Syndrome 10
Ventricular septal defect, Short stature, Patent ductus arteriosus, Increased nuchal translucency... OMIM:616564
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Alg9-Cdg
Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fetalis, Abnormal heart morp... ORPHA:79328
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Poems Syndrome
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:2905
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Classical Ehlers-Danlos Syndrome
Mitral valve prolapse, Joint swelling, Dilatation of the cerebral artery, Aortic root aneurysm, A... ORPHA:287
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... OMIM:600001
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Aicardi-Goutieres Syndrome 7
Edema, Pericardial effusion, Vasculitis, Intrauterine growth retardation, Hypertrophic cardiomyop... OMIM:615846
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Vascu... ORPHA:2637
Dysbetalipoproteinemia
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Tendon xanthomatosi... ORPHA:412
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... OMIM:613854
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... OMIM:600142
Hughes-Stovin Syndrome
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... ORPHA:228116
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... ORPHA:286
Kaposi Sarcoma
Venous insufficiency, Lymphedema ORPHA:33276
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites OMIM:618183
Thymic Carcinoma
Abnormal vena cava morphology, Palpebral edema, Edema ORPHA:99868
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy ORPHA:300751
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... OMIM:265380
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... ORPHA:51608
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Anomalous pulmonary ... ORPHA:244
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Predominantly lower limb lymphedema ORPHA:33001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... ORPHA:2255
Proteus Syndrome
Sirenomelia, Arteriovenous malformation, Lymphedema ORPHA:744
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Short stature, Intrauterine growth reta... ORPHA:166035
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:187300
Meckel Syndrome, Type 7
Situs inversus totalis, Patent ductus arteriosus, Oligohydramnios, Atrial septal defect, Aortic v... OMIM:267010
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morpholo... ORPHA:163956
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Neonatal death, Atrial septal de... OMIM:620244
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, Lymphedema OMIM:613089
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Anencephaly, Transposition of the grea... OMIM:313850
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... OMIM:612541
Ehlers-Danlos Syndrome, Classic-Like, 2
Umbilical hernia, Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductus arteriosus, ... ORPHA:96191
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation OMIM:618343
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:565
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Peripheral edema, Abnor... ORPHA:1677
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Retinal crystals, Optic neuropathy, Raynaud phenomenon, Arterial oc... OMIM:259900
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction OMIM:618620
Lymphangioleiomyomatosis
Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis ORPHA:538
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
Gitelman Syndrome
Pericardial effusion, Varicose veins, Delayed puberty ORPHA:358
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... ORPHA:565612
Familial Thrombocytosis
Transient ischemic attack, Peripheral arterial stenosis, Syncope, Cerebral ischemia, Pulmonary ar... ORPHA:71493
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Renovascular hypertension, Carotid artery stenosis OMIM:602531
Livedoid Vasculopathy
Abnormal capillary morphology, Venous insufficiency, Pedal edema, Varicose veins, Ischemic stroke ORPHA:542643
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:609192
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Dupuytren contracture, Upper limb amyotrophy, Varicose veins, Leg m... ORPHA:100991
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Hypercholesterolemia, Familial, 1
Tendon xanthomatosis, Coronary artery atherosclerosis OMIM:143890
Congenital Tracheal Stenosis
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... ORPHA:141127
Clapo Syndrome
Varicose veins, Venous malformation, Lymphedema ORPHA:168984
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition OMIM:125310
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Peri... ORPHA:580
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Polyhydramnios, Ret... ORPHA:567
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema ORPHA:73224
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... ORPHA:99125
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho... ORPHA:217085
Knobloch Syndrome 2
Encephalocele, Retinal detachment, Vitreous floaters, Patent ductus arteriosus, Vitreoretinopathy OMIM:618458
Liposarcoma
Varicose veins ORPHA:69078
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho... ORPHA:217093
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty ORPHA:91347
Erythrocytosis, Familial, 2
Varicose veins, Stroke, Cerebral hemorrhage OMIM:263400
Crimean-Congo Hemorrhagic Fever
Pericardial effusion, Myocarditis, Ascites, Subdural hemorrhage ORPHA:99827
Varicose Veins
Varicose veins OMIM:192200
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop... ORPHA:31150
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Hypovolemia, Peripheral arterial stenosis, Elevated diast... ORPHA:90041
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction OMIM:615812
Renal Nutcracker Syndrome
Varicose veins, Vulval varicose vein, Renal artery stenosis, Dilatation of mesenteric artery ORPHA:71273
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:600376
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Varicose veins, Torticollis OMIM:314300
Thymic Neuroendocrine Tumor
Abnormal vena cava morphology, Prominent veins on trunk ORPHA:97289
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins OMIM:617107
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Spinal dysraphism OMIM:612918
Proteus-Like Syndrome
Venous insufficiency ORPHA:2969
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... ORPHA:500095
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Abnormal cerebral vascular morphology ORPHA:276280
Sitosterolemia 1
Coronary artery atherosclerosis, Carotid artery stenosis OMIM:210250
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
H Syndrome
Short stature, Upper eyelid edema, Varicose veins, Delayed puberty, Camptodactyly ORPHA:168569
Williams Syndrome
Myocardial infarction, Abnormal cerebral vascular morphology, Spina bifida occulta, Overriding ao... ORPHA:904
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Prominent superficial veins, Skeletal muscle atrophy, Telang... ORPHA:79474
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Aortic valve calcification, Calcification of the aorta, Growth delay,... ORPHA:2072
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Hypertension, Arterial stenosis, Chorioretinal coloboma ORPHA:636
Ehlers-Danlos Syndrome, Vascular Type
Short stature, Descending aortic dissection, Mitral valve prolapse, Varicose veins, Dilatation of... OMIM:130050
Microphthalmia With Limb Anomalies
Venous insufficiency, Camptodactyly of 2nd-5th fingers, Short stature ORPHA:1106
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor... ORPHA:285
Occipital Horn Syndrome
Venous insufficiency, Vascular dilatation ORPHA:198
Pmm2-Cdg
Pericarditis, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarca, Hypertrophic c... ORPHA:79318
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Norrie Disease
Venous insufficiency, Delayed puberty ORPHA:649
Aplasia Cutis Congenita
Facial palsy, Spinal dysraphism ORPHA:1114

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 Dll4

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 Dll4.

No publications found that use IMPC mice or data for Dll4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dll4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dll4tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dll4tm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dll4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dll4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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