Gene Summary

Name:
thrombospondin, type I, domain containing 4
Synonyms:
ADAMTSL6,  B230114P05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal locomotor behavior Thsd4em1(IMPC)J HOM Early adult 9.55×10-06
increased aggression Thsd4em1(IMPC)J HOM Early adult 3.18×10-06

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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.

Auditory Brain Stem Response

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

8 Images

Electrocardiogram (ECG)

Waveform Image

3 Images

Human diseases caused by Thsd4 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 Thsd4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta aneurysm OMIM:619825
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387

The table below shows human diseases predicted to be associated to Thsd4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Arterial Dissection With Lentiginosis
Arterial dissection, Cystic medial necrosis OMIM:600459
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Ascending tubular aorta aneurysm, Arterial tortuosity OMIM:132800
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:261102
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec... ORPHA:402075
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta OMIM:226100
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection OMIM:604308
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta aneurysm OMIM:619825
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a... OMIM:614823
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Aneurysm Of Interventricular Septum
Vascular dilatation OMIM:105805
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Joint contracture of the hand, Aor... OMIM:610168
Conotruncal Heart Malformations
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... OMIM:217095
Aneurysm Of Sinus Of Valsalva
Stroke, Dilatation of the sinus of Valsalva ORPHA:1054
Periventricular Nodular Heterotopia
Aortic aneurysm, Patent ductus arteriosus ORPHA:98892
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula ORPHA:1053
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy OMIM:252350
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Arterial Dissection-Lentiginosis Syndrome
Arterial dissection, Arteriovenous malformation ORPHA:1682
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Descending aortic dissection, Small thenar eminence, Ascending... OMIM:620080
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Hypoplastic Left Heart Syndrome
Hypoplastic aortic arch, Patent ductus arteriosus ORPHA:2248
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Transposition of the great arteries OMIM:619910
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Aortic root aneurysm, Patent ductus arteriosus OMIM:135500
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Cap Myopathy
Increased variability in muscle fiber diameter, Aortic root aneurysm, Lower limb muscle weakness,... ORPHA:171881
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Telangiectasia, Hereditary Benign
Vascular dilatation OMIM:187260
Takayasu Arteritis
Vasculitis, Arterial stenosis, Vascular dilatation, Ascending tubular aorta aneurysm ORPHA:3287
Marfanoid Habitus With Situs Inversus
Persistent left superior vena cava, Aortic root aneurysm OMIM:609008
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ... ORPHA:1166
Congenital Contractural Arachnodactyly
Congenital contracture, Camptodactyly of finger, Aortic aneurysm, Flexion contracture, Arthrogryp... ORPHA:115
Ciliary Dyskinesia, Primary, 40
Congenitally corrected transposition of the great arteries, Right aortic arch, Patent ductus arte... OMIM:618300
Fragile X Syndrome
Ascending tubular aorta aneurysm ORPHA:908
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Ectopia Lentis 1, Isolated, Autosomal Dominant
Aortic root aneurysm OMIM:129600
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Heterotaxy, Visceral, 6, Autosomal
Transposition of the great arteries, Total anomalous pulmonary venous return, Right aortic arch, ... OMIM:614779
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... OMIM:613751
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Left ventricular hypertrophy, Dilatation of the sinus of Val... ORPHA:99094
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Ascending tubular aorta aneurysm OMIM:620067
Aorta Coarctation
Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,... ORPHA:1457
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Aortic root aneurysm OMIM:301039
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Tetralogy... ORPHA:99050
Ciliary Dyskinesia, Primary, 37
Right aortic arch OMIM:617577
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Pulmonary arteriovenous malformation, Stroke, Hepatic arteriovenous malformati... OMIM:175050
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... OMIM:619656
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrotransposition of the great arteries, Double outlet right ventricle, Partial anomalous pulmo... OMIM:619657
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, De... ORPHA:860
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm
Celiac artery compression OMIM:116870
Charge Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Aortic arch aneurysm, Facial palsy, Patent ductus a... ORPHA:138
Rin2 Syndrome
Aortic aneurysm ORPHA:217335
Temtamy Syndrome
Aortic aneurysm OMIM:218340
Fixed Subaortic Stenosis
Coarctation of aorta, Patent ductus arteriosus, Left ventricular hypertrophy, Ascending tubular a... ORPHA:3092
Transaldolase Deficiency
Coarctation of aorta ORPHA:101028
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
1P36 Deletion Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Aortic arch aneurysm, Myopathy, Patent ductus arter... ORPHA:1606
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99413
Turner Syndrome
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:881
Mosaic Monosomy X
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99228
Monosomy X
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99226
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Truncus arteriosus, Transposition of the gre... OMIM:620294
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Epidermal Nevus Syndrome
Aortic aneurysm, Rhabdomyosarcoma, Weakness of long finger extensor muscles ORPHA:35125
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Foot dorsiflexor weakness, Persistent left superior vena cava, Aortic aneurysm... ORPHA:477817
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm, Limb hypertonia OMIM:620070
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Williams Syndrome
Peripheral pulmonary artery stenosis, Abnormal cerebral vascular morphology, Tetralogy of Fallot,... ORPHA:904
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Congenital diaphragmatic hernia, Vascular tortuosity, Ascen... OMIM:219100
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, C... ORPHA:284984
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm, Left ventricular hypertrophy ORPHA:3093
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... OMIM:300989
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta OMIM:620210
Contractural Arachnodactyly, Congenital
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Hip contracture, Knee fl... OMIM:121050
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Aplasia/Hyp... ORPHA:1926
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Noonan Syndrome 9
Coarctation of aorta OMIM:616559
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Patent ductus arteriosus ORPHA:404443
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Coarctation of aorta, Total anomalous pulmonary venous return ORPHA:261183
Tetrasomy 15Q26
Camptodactyly, Hypoplastic aortic arch, Patent ductus arteriosus OMIM:614846
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Vascular ring OMIM:601927
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Decreased muscle mass, Elbow ... ORPHA:1900
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle OMIM:616652
Loeys-Dietz Syndrome 3
Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatation of the cerebral ar... OMIM:613795
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Arterial Tortuosity Syndrome
Aortic root aneurysm, Generalized arterial tortuosity, Ischemic stroke, Congenital diaphragmatic ... OMIM:208050
Alkaptonuria
Coronary artery calcification, Aortic aneurysm, Thickened Achilles tendon OMIM:203500
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Camptodactyly of finger ORPHA:2876
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins OMIM:618000
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm OMIM:145420
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the pulmonary artery, Coronar... ORPHA:363618
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Camptodactyly of finger, Aortic aneu... ORPHA:60030
Skraban-Deardorff Syndrome
Right aortic arch OMIM:617616
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Patent ductus arteriosus OMIM:619351
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Coarctation of aorta, Aortic root aneurysm, Congenital diaphragmatic hernia OMIM:617602
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Flexion contracture, Ascending tubular aorta aneurysm OMIM:309520
Arterial Tortuosity Syndrome
Aortic root aneurysm, Aortic dissection, Arterial stenosis, Pulmonary artery stenosis, Aortic ane... ORPHA:3342
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Coarctation o... OMIM:270100
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Abnormal systemic arterial morphology, Aortic root aneurysm ORPHA:730
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmo... OMIM:620025
Macs Syndrome
Aortic aneurysm, Dilation of Virchow-Robin spaces OMIM:613075
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm ORPHA:449291
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Abnormal hemidiaphragm morphology, Anom... ORPHA:185
Holt-Oram Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:392
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Lower limb muscle weakness, Dilatation of the cerebral artery, Transient ischemic att... ORPHA:365
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao... ORPHA:42775
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Abnormal aortic morphology ORPHA:63
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Ri... OMIM:616749
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Transient ischemic attack, Coarctation of aorta, Double outlet right ventric... ORPHA:1330
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Coarctation of aorta, Congenital diaphragmatic hernia, Patent ductus arteriosus, Anomalous pulmon... ORPHA:1120
Giant Cell Arteritis
Vasculitis, Abdominal aortic aneurysm, Aortic dissection, Double outlet right ventricle with subp... ORPHA:397
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm, Joint contracture OMIM:615349
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Conotruncal defect, Persiste... ORPHA:2306
Cardiac-Valvular Ehlers-Danlos Syndrome
Tendon rupture, Left ventricular hypertrophy, Tendon thickening, Aortic root aneurysm ORPHA:230851
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Lateral Meningocele Syndrome
Aortic aneurysm, Patent ductus arteriosus, Decreased muscle mass OMIM:130720
Truncus Arteriosus
Interrupted aortic arch, Pulmonary artery hypoplasia, Arteria lusoria, Abnormal coronary artery m... ORPHA:3384
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Persistent l... OMIM:617478
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Vascular ring, Skeletal muscle atrophy OMIM:603387
Double Outlet Right Ventricle
Tetralogy of Fallot, Truncus arteriosus, Coarctation of aorta, Double outlet right ventricle, Pul... ORPHA:3426
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic root aneurysm, Multiple joint contractures, Stroke, Torticollis, Thoracic aortic aneurysm,... ORPHA:536467
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-like episode, Right aortic... OMIM:300845
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... OMIM:614437
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Skeletal muscle atrophy OMIM:614300
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Tetralogy of Fallot,... OMIM:208530
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Interrupted aortic arch, Transposition of the great arteries ORPHA:1727
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Skeletal muscle atrophy, Myopathy, Aortic aneurysm, Intracranial hemo... ORPHA:109
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Aortic atherosclerotic lesion, Accelerated atherosclerosis, Coronary artery atherosclerosis ORPHA:209902
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Ascending tubular aorta aneurysm OMIM:601808
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Patent ductus arteriosus ORPHA:284169
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Aortic aneurysm, Aplasia/Hypoplasia of the abdo... ORPHA:2990
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Patent ductus arteriosus OMIM:614857
Meacham Syndrome
Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Apl... OMIM:608978
Neonatal Marfan Syndrome
Flexion contracture, Aortic root aneurysm, Ascending tubular aorta aneurysm ORPHA:284979
Monosomy 18Q
Aortic aneurysm, Patent ductus arteriosus, Left aortic arch with right descending aorta and right... ORPHA:1600
Dysbetalipoproteinemia
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, T... ORPHA:412
Seckel Syndrome 10
Abdominal aortic aneurysm OMIM:617253
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm, Scapular winging OMIM:616914
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphragmatic hernia, Pulmonary arter... ORPHA:251071
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery OMIM:600460
Ciliary Dyskinesia, Primary, 53
Persistent left superior vena cava, Right aortic arch OMIM:620642
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Decreased muscle mass, Scapular winging, Ascending aortic dissection, Conge... OMIM:615582
X Small Rings
Aortic root aneurysm ORPHA:96201
Alg3-Cdg
Macroglossia, Arthrogryposis multiplex congenita, Coarctation of the descending aortic arch ORPHA:79321
Marfan Syndrome
Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Skelet... ORPHA:558
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Flexion contracture, Aortic root aneurysm, Generalized limb muscle atrophy OMIM:618891
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Limb hypertonia, Ascending tubular aorta aneurysm ORPHA:444072
Cardiomyopathy, Dilated, 1S
Left ventricular noncompaction, Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Hypoplasia of the musculature, Aor... OMIM:609192
Shprintzen-Goldberg Craniosynostosis Syndrome
Camptodactyly, Aortic aneurysm, Joint contracture of the hand OMIM:182212
Fliedner-Zweier Syndrome
Hypoplastic aortic arch OMIM:620511
Meacham Syndrome
Tetralogy of Fallot, Conotruncal defect, Congenital diaphragmatic hernia, Coarctation of aorta, T... ORPHA:3097
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Coarctation of aorta, Hypoplastic aor... OMIM:617506
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Coarctation of aorta OMIM:600987
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Hypotrophy of the small hand muscles OMIM:610443
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Aortic root aneurysm, Prominent veins on trunk, Varicose veins ORPHA:536532
Distal 22Q11.2 Microdeletion Syndrome
Aortic aneurysm, Camptodactyly of finger, Truncus arteriosus ORPHA:261330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Ascending tubular aorta aneurysm ORPHA:453499
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Persistent left superior vena cava, Coarctation of aorta OMIM:618494
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tetralogy of Fallot, Diastasis recti, Abnormal aortic morphology, Pu... ORPHA:1686
Transaldolase Deficiency
Coarctation of aorta, Patent ductus arteriosus OMIM:606003
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Limb hypertonia, Camptodactyly of finger OMIM:616920
Marfan Syndrome
Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissection, Decreased muscle mass, Camp... OMIM:154700
20Q13.33 Microdeletion Syndrome
Facial hypotonia, Hypoplastic aortic arch, Dilation of Virchow-Robin spaces ORPHA:261311
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Left ventricular hypertrophy, Aortic root aneurysm, Congenital diaphra... OMIM:245600
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Aortic root aneurysm, Patent ductus arteriosus OMIM:620654
Opitz Gbbb Syndrome
Aortic root aneurysm, Congenital diaphragmatic hernia, Persistent left superior vena cava, Coarct... ORPHA:2745
Alkaptonuria
Atherosclerosis, Tendon rupture, Thickened Achilles tendon, Aortic aneurysm, Coronary artery calc... ORPHA:56
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus OMIM:617159
Cutis Laxa, Autosomal Recessive, Type Iid
Camptodactyly, Joint contracture, Ascending tubular aorta aneurysm OMIM:617403
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Tetralogy of Fallot, Congenital diaphragmatic hern... OMIM:601186
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Pulm... OMIM:192430
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic morphology ORPHA:1001
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus OMIM:300514
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Subdural hemorrhage, Myopathy, Aortic aneurysm, Cerebral hemorrhage, Ant... ORPHA:536545
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta OMIM:618929
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Tetralogy of Fallot, Abno... ORPHA:980
Craniofaciofrontodigital Syndrome
Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, Stroke, Coarctation of ... ORPHA:363705
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Camptodactyly, Aortic dissection, Vascular dilatation, Varicose veins OMIM:618343
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Congenital diaphragmatic hernia, Abnormal a... ORPHA:2059
7Q11.23 Microduplication Syndrome
Aortic aneurysm, Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:96121
Larsen Syndrome
Aortic aneurysm OMIM:150250
Distal Triplication 15Q
Camptodactyly, Hypoplastic aortic arch, Flexion contracture, Patent ductus arteriosus ORPHA:314588
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Macroglossia, Coarctation of aorta, Conotruncal defect ORPHA:96147
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Dilatation of the ventricular cavity, Coarctation of aorta,... ORPHA:90348
Spondylodysplastic Ehlers-Danlos Syndrome
Elbow flexion contracture, Prominent scalp veins, Multiple joint contractures, Abnormal right hem... ORPHA:536471
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Abnormal tendon morphology, Aort... ORPHA:391665
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe... ORPHA:90324
Aicardi-Goutières Syndrome
Moyamoya phenomenon, Calcification of the aorta, Multiple joint contractures, Myositis, Aortic an... ORPHA:51
Otopalatodigital Syndrome, Type Ii
Dilatation of the sinus of Valsalva, Elbow contracture OMIM:304120
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Acrocardiofacial Syndrome
Tetralogy of Fallot, Coarctation of aorta, Camptodactyly of finger, Truncus arteriosus ORPHA:2008
Maternal Phenylketonuria
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle ORPHA:2209
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Dila... OMIM:619472
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Peripheral pulmonary artery stenosis, Aortic root aneury... ORPHA:280633
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Double outlet right ventricle ORPHA:371428
Lowry-Maclean Syndrome
Coarctation of aorta, Congenital diaphragmatic hernia ORPHA:2409
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarctation of aorta, Facial palsy ORPHA:2780
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Coarctation of aorta, Abnormal aortic morphology ORPHA:2396
Pagod Syndrome
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnorma... ORPHA:991
Au-Kline Syndrome
Aortic root aneurysm OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 73
Aortic aneurysm, Flexion contracture, Knee flexion contracture OMIM:620450
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Ascending tubular aorta aneurysm OMIM:620376
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Macroglossia, Aortic aneurysm, Type 1 muscle fiber atrophy ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Macroglossia, Aortic aneurysm, Type 1 muscle fiber atrophy ORPHA:352665
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Patent ductus arteriosus OMIM:617260
Blau Syndrome
Large vessel vasculitis, Aortic aneurysm, Facial palsy, Camptodactyly of finger ORPHA:90340
Aortic Arch Interruption
Truncus arteriosus, Patent ductus arteriosus, Aortopulmonary window, Transposition of the great a... ORPHA:2299
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Transposition of the great arteries, Camptodactyly, Pat... OMIM:612474
Restrictive Dermopathy
Camptodactyly of finger, Multiple joint contractures, Transposition of the great arteries, Arthro... ORPHA:1662
Tuberous Sclerosis Complex
Aortic aneurysm, Pulmonary lymphangiomyomatosis ORPHA:805
Osteogenesis Imperfecta
Arterial dissection, Aortic root aneurysm, Aortic dissection, Aortic aneurysm, Cerebral hemorrhag... ORPHA:666
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Congenital diaphragmatic hernia ORPHA:268249
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Venous insufficiency, Aplasia/Hypoplasia of the abdomi... ORPHA:285
Noonan Syndrome 10
Coarctation of aorta, Patent ductus arteriosus, Left ventricular hypertrophy OMIM:616564
De Barsy Syndrome
Prominent veins on trunk, Decreased muscle mass, Persistent left superior vena cava, Hypoplastic ... ORPHA:2962
Perlman Syndrome
Interrupted aortic arch, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic h... OMIM:267000
Koolen-De Vries Syndrome Due To A Point Mutation
Aortic aneurysm, Intraventricular hemorrhage, Hand muscle atrophy ORPHA:363965
17Q21.31 Microdeletion Syndrome
Aortic aneurysm, Intraventricular hemorrhage, Hand muscle atrophy ORPHA:363958
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Coarctation ... ORPHA:1692
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta, Rhabdomyolysis OMIM:614921
Kleefstra Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, Coarctation of aorta, Macroglossia ORPHA:261494
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,... ORPHA:17
Mosaic Trisomy 16
Single coronary artery origin, Coarctation of aorta, Patent ductus arteriosus ORPHA:1708
Galloway-Mowat Syndrome 3
Camptodactyly, Coarctation of aorta OMIM:617729
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Distal arthrogryposis, Facial hypotonia OMIM:617557
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta OMIM:614114
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Aortic root aneurysm, Patent ductus arteriosus ORPHA:444077
Fontaine Progeroid Syndrome
Aortic aneurysm, Patent ductus arteriosus, Left ventricular hypertrophy, Prominent superficial ve... OMIM:612289
Kabuki Syndrome 2
Coarctation of aorta OMIM:300867
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... OMIM:306955
Fg Syndrome Type 1
Coarctation of aorta, Progressive flexion contractures ORPHA:93932
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dilatation of the cerebral artery, Aortic aneurysm, Torticollis OMIM:619475
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Tetralogy of Fallot, Right aortic arch, Partial anomalous p... ORPHA:95430
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary artery dilatation, Tetralogy of Fallot, Diastasis recti, Right... OMIM:265380
Distal Deletion 15Q
Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Mosaic Variegated Aneuploidy Syndrome
Coarctation of aorta, Rhabdomyosarcoma, Muscular dystrophy, Abnormal aortic morphology ORPHA:1052
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Skeletal muscle atrophy, Type 1 muscle fiber predominance, Myopathy, Patent ductu... OMIM:614557
Oculoectodermal Syndrome
Transient ischemic attack, Coarctation of aorta, Patent ductus arteriosus OMIM:600268
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Preductal coarctation of the aort... ORPHA:141127
Classical Ehlers-Danlos Syndrome
Dilatation of the cerebral artery, Arterial dissection, Aortic root aneurysm, Arteriovenous fistula ORPHA:287
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Hypoplastic aortic arch ORPHA:457284
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus ORPHA:250989
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Tetralogy of Fallot, Congenital diaphragmatic hernia, Truncus arteriosus... OMIM:600001
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Coarctation of aorta OMIM:620066
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Pulmonary artery stenosis, Anomalous origin of right coronary artery f... OMIM:616462
Toriello-Carey Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus ORPHA:3338
Craniofacioskeletal Syndrome
Interrupted aortic arch, Patent ductus arteriosus OMIM:300712
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Feingold Syndrome Type 1
Interrupted aortic arch, Patent ductus arteriosus ORPHA:391641
Intellectual Developmental Disorder, X-Linked 112
Right aortic arch OMIM:301111
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Congenital diaphragmatic hernia, Patent ductus arteriosus OMIM:618454
Orofaciodigital Syndrome Vi
Coarctation of aorta OMIM:277170
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Patent ductus arteriosus, Torticollis, Unilateral facial palsy OMIM:619480
Cocaine Intoxication
Aortic dissection, Ischemic stroke, Rhabdomyolysis, Subarachnoid hemorrhage, Cerebral hemorrhage ORPHA:90068
Noonan Syndrome 2
Pulmonary artery stenosis, Coarctation of aorta, Distal arthrogryposis, Abnormal coronary artery ... OMIM:605275
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology, Camptodactyly of finger ORPHA:1507
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Pulmonary artery stenosis, Coarctation of aort... ORPHA:99125
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta, Facial palsy, Congenital diaphragmatic hernia OMIM:301022
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Intracranial hemorrhage, Patent ductus arteriosus ORPHA:163979
Holoprosencephaly
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology ORPHA:2162
Chromosome 1P36 Deletion Syndrome, Distal
Aortic root aneurysm, Camptodactyly of finger, Tetralogy of Fallot, Camptodactyly, Patent ductus ... OMIM:607872
Mucopolysaccharidosis Type 2
Contractures of the large joints, Flexion contracture of digit, Abnormal aortic morphology, Perip... ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Abnormal aortic morphology, Peripheral arterial stenosis, Macroglossia, ... ORPHA:217085
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Pulmonary artery atresia, A... OMIM:212093
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Abnormal aortic morphology, Peripheral arterial stenosis, Macroglossia, ... ORPHA:217093
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary artery s... ORPHA:2255
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Scimitar anomaly, Congenital diaphragmatic hernia, ... OMIM:618280
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Coarctation of aorta, Patent ductus arteriosus OMIM:617088
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Stroke, Coarcta... OMIM:118450
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Coarctation of aorta, Double outlet right ventricle, Joint contracture, Pulmonary artery atresia,... OMIM:618164
Catel-Manzke Syndrome
Camptodactyly, Overriding aorta, Coarctation of aorta OMIM:616145
Fanconi Anemia
Arteriovenous malformation, Tetralogy of Fallot, Abnormal aortic morphology, Abnormal carotid art... ORPHA:84
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Coarctation of aorta, Facial palsy, Truncus arteriosus ORPHA:508498
Noonan Syndrome
Pulmonary artery stenosis, Coarctation of aorta, Aplasia/Hypoplasia of the abdominal wall muscula... ORPHA:648
Sotos Syndrome
Ankle flexion contracture, Hip contracture, Bilateral camptodactyly, Aortic aneurysm, Flexion con... ORPHA:821
Myhre Syndrome
Generalized muscle hypertrophy, Coarctation of aorta, Camptodactyly, Patent ductus arteriosus, Sk... OMIM:139210
Feingold Syndrome 1
Interrupted aortic arch, Patent ductus arteriosus OMIM:164280
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Retinal arteriolar tortuosity, Truncus arte... ORPHA:567
Kabuki Syndrome
Coarctation of aorta, Congenital diaphragmatic hernia ORPHA:2322
Igg4-Related Kidney Disease
Arteritis, Abnormal aortic morphology ORPHA:449395
Generalized Arterial Calcification Of Infancy
Aortic dissection, Arterial calcification, Medial calcification of large arteries, Transient isch... ORPHA:51608
Diamond-Blackfan Anemia
Coarctation of aorta, Radial artery aplasia, Abnormality of the thenar eminence ORPHA:124
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Shoulder muscle hypoplasia OMIM:274000
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Diamond-Blackfan Anemia 1
Coarctation of aorta, Small thenar eminence OMIM:105650
Jacobsen Syndrome
Coarctation of aorta ORPHA:2308
Microphthalmia, Syndromic 2
Hypoplastic aortic arch, Contracture of the proximal interphalangeal joint of the 2nd toe, Contra... OMIM:300166
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Interphalangeal joint contracture of finger, Diastasis recti, Pu... ORPHA:96334
45,X/46,Xy Mixed Gonadal Dysgenesis
Coarctation of aorta, Muscle hypertrophy of the lower extremities ORPHA:1772
Hardikar Syndrome
Partial anomalous pulmonary venous return, Pulmonary artery stenosis, Coarctation of aorta, Paten... OMIM:301068
Cardiospondylocarpofacial Syndrome
Hypoplastic aortic arch, Congenital diaphragmatic hernia OMIM:157800
Meckel Syndrome, Type 1
Coarctation of aorta, Vascular dilatation, Patent ductus arteriosus, Camptodactyly of finger OMIM:249000
Robinow Syndrome
Coarctation of aorta ORPHA:97360
Ctcf-Related Neurodevelopmental Disorder
Coarctation of aorta, Joint contracture of the 5th finger, Patent ductus arteriosus ORPHA:363611
Rubinstein-Taybi Syndrome 1
Aortic isthmus hypoplasia, Persistent left superior vena cava, Coarctation of aorta, Flexion cont... OMIM:180849
8Q24.3 Microdeletion Syndrome
Hypoplastic aortic arch, Coarctation of aorta, Patent ductus arteriosus, Truncus arteriosus ORPHA:508488
Femoral-Facial Syndrome
Coarctation of aorta, Patent ductus arteriosus, Camptodactyly of finger, Truncus arteriosus OMIM:134780
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Coarctation of aorta, Patent ductus arteriosus, Vascular ring ORPHA:353281
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Flexion contracture, Elbow flexion contracture, Ischemic stroke, Foot dorsiflexor weakness, Hip c... OMIM:619503
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Coarctation of aorta, Bilateral superior vena cava, Left ventricular hypertrophy OMIM:220111
17Q11 Microdeletion Syndrome
Dilatation of the cerebral artery, Abnormal internal carotid artery morphology, Renal artery sten... ORPHA:97685
Noonan Syndrome 1
Coarctation of aorta, Patent ductus arteriosus OMIM:163950
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Tetralogy of Fallot, Elbow flexion contracture, Knee flexion contra... OMIM:210710
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Digeorge Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun... OMIM:188400
Smith-Lemli-Opitz Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:270400
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Coarctation of aorta, Patent ductus arteriosus, Vascular ring, Abnormal subclavian artery morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Coarctation of aorta, Patent ductus arteriosus, Vascular ring, Abnormal subclavian artery morphology ORPHA:353277
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Tetralogy of Fallot, Right aortic arch, Coarctation of aorta, P... OMIM:164210
Pallister-Hall Syndrome
Coarctation of aorta, Patent ductus arteriosus, Distal arthrogryposis ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tetralogy of Fallot, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of ... ORPHA:261537
Mowat-Wilson Syndrome
Tetralogy of Fallot, Pulmonary artery sling, Coarctation of aorta, Camptodactyly, Flexion contrac... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tetralogy of Fallot, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of ... ORPHA:261552
Pallister-Killian Syndrome
Camptodactyly of 2nd-5th fingers, Congenital diaphragmatic hernia, Coarctation of aorta, Macroglo... OMIM:601803

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 Thsd4

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 Thsd4.

No publications found that use IMPC mice or data for Thsd4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Thsd4em1(IMPC)J Exon Deletion Mice
Thsd4tm42994(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Thsd4tm42994(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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