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Gene: Acta2 MGI:87909

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Gene Summary

Name:
actin alpha 2, smooth muscle, aorta
Synonyms:
SMAalpha,  0610041G09Rik,  SMalphaA,  Actvs,  a-SMA,  alphaSMA

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart weight Acta2em1(IMPC)H HOM Early adult 4.23×10-05

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Acta2 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 Acta2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... ORPHA:91387
Moyamoya Disease
Abnormal cerebral vascular morphology, Telangiectasia ORPHA:2573
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... OMIM:613834

The table below shows human diseases predicted to be associated to Acta2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fibromuscular Dysplasia, Arterial
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... ORPHA:3400
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... OMIM:615779
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... ORPHA:229
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... OMIM:618780
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial tortuosity, Abnormal vascular morphology, Arterial occlus... ORPHA:289601
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Atrial fibrillation OMIM:616166
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... OMIM:613854
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... ORPHA:860
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... OMIM:614980
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow... ORPHA:99050
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... ORPHA:3092
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Coarctation of aorta OMIM:616069
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Partial Atrioventricular Septal Defect
Atrial flutter, Transient ischemic attack, Angina pectoris, Patent ductus arteriosus, Anomalous p... ORPHA:1330
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis OMIM:618496
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... ORPHA:91387
Moyamoya Disease
Abnormal cerebral vascular morphology, Telangiectasia ORPHA:2573
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Heart murmur, Coarctation of aorta, Hypertension, Asc... ORPHA:402075
Analbuminemia
Patent ductus arteriosus, Hypotension OMIM:616000
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... OMIM:613834
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta ORPHA:101028
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Stroke, Cerebral ischemia... ORPHA:449285
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Scimitar Syndrome
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Descendi... ORPHA:185
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic di... OMIM:619825
Cardiac Diverticulum
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... ORPHA:1686
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis ORPHA:2248
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Increased QRS voltage, Heart mur... ORPHA:3093
Perry Syndrome
Hypotension ORPHA:178509
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1166
Homozygous Familial Hypercholesterolemia
Angina pectoris, Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid art... ORPHA:391665
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Double Outlet Right Ventricle
Tachycardia, Double outlet right ventricle, Heart murmur, Coarctation of aorta, Pulmonic stenosis... ORPHA:3426
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... ORPHA:392
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... ORPHA:980
Nipah Virus Disease
Hypotension ORPHA:99825
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Dengue Fever
Hypotension, Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage ORPHA:99828
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... ORPHA:100080
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta OMIM:616559
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... ORPHA:3342
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100082
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho... ORPHA:3384
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... ORPHA:363705
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Arterial Tortuosity Syndrome
Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenosis, Hypertension, Aortic ... OMIM:208050
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Dysbetalipoproteinemia
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Peripheral arterial... ORPHA:412
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Tricuspid regurgitation, Anomalous pulmonary venous return, Coarctation... ORPHA:1120
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta OMIM:614857
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Chromosome 5Q12 Deletion Syndrome
Patent ductus arteriosus, Hypotension OMIM:615668
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal aortic morphology, Transposition of... ORPHA:251071
Meningococcal Meningitis
Shock, Stroke, Hypotension ORPHA:33475
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta ORPHA:284169
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... OMIM:208530
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Diabetic Embryopathy
Abnormality of the pulmonary artery, Tetralogy of Fallot, Transposition of the great arteries, Ab... ORPHA:1926
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens... ORPHA:97287
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... ORPHA:397
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Subarachnoid hemorrhage, Cerebral hemo... ORPHA:90068
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta OMIM:620210
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Aortic root aneurysm, Aortic ath... ORPHA:363618
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:188
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Transaldolase Deficiency
Patent ductus arteriosus, Telangiectasia, Coarctation of aorta OMIM:606003
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... ORPHA:100075
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Coarctation of aorta OMIM:614300
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Double outlet right ventricle, Atrioventricular block, Coarctation of aorta ORPHA:371428
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Alport Syndrome
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Aortic valve stenosis, Tetralogy ... ORPHA:96147
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Meacham Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a... ORPHA:3097
Aa Amyloidosis
Hypotension ORPHA:85445
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta OMIM:618929
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta ORPHA:2876
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Arterial rupture, Aortic dissection, Arterial dissection, Abnormal veno... ORPHA:1900
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Coarctation of aorta, Aborted sudden c... OMIM:614921
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Loeys-Dietz Syndrome 4
Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic dissection, A... OMIM:614816
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Supravalvar pulmon... OMIM:618164
Cholera
Hypovolemic shock, Tachycardia, Stroke, Hypotension ORPHA:173
Loeys-Dietz Syndrome
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... ORPHA:60030
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Pulmonary artery atresia, Trun... OMIM:601186
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Pagod Syndrome
Sudden cardiac death, Pulmonary artery hypoplasia, Abnormal aortic morphology, Arrhythmia, Abnorm... ORPHA:991
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Noonan Syndrome 2
Abnormal coronary artery origin, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, ... OMIM:605275
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Persistent left superior vena cava, Coarctation of aorta OMIM:618494
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the... ORPHA:2306
Noonan Syndrome 10
Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:616564
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Achalasia, Coarctation of aorta OMIM:600987
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypotension ORPHA:3452
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection OMIM:618343
Legionnaires Disease
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:549
Meacham Syndrome
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aorta, Right ... OMIM:608978
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Pulmonary arterial hyp... ORPHA:2396
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ... OMIM:270100
Hellp Syndrome
Hypotension, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Acrocardiofacial Syndrome
Truncus arteriosus, Tetralogy of Fallot, Mitral stenosis, Coarctation of aorta ORPHA:2008
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta,... OMIM:617506
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous p... OMIM:265380
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Kleefstra Syndrome
Pulmonary artery stenosis, Tetralogy of Fallot, Arrhythmia, Coarctation of aorta ORPHA:261494
Galloway-Mowat Syndrome 3
Hypertension, Coarctation of aorta OMIM:617729
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Stroke, Hypotension, Pulmonary a... ORPHA:275761
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmonary artery stenosis, Paten... ORPHA:99125
Acute Adrenal Insufficiency
Orthostatic hypotension, Myocardial infarction, Hypovolemia, Stroke, Hypotension ORPHA:95409
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary artery hypoplasia, Aortic ro... OMIM:620025
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Dilatat... ORPHA:284984
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:617159
Fg Syndrome Type 1
Pulmonary arterial hypertension, Coarctation of aorta ORPHA:93932
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta OMIM:614114
Marfan Syndrome
Congestive heart failure, Descending aortic dissection, Dilatation of an abdominal artery, Ascend... ORPHA:558
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Heterotaxy, Visceral, 1, X-Linked
Mitral stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Dextrotransposition of the gr... OMIM:306955
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology ORPHA:2059
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Kabuki Syndrome 2
Pulmonic stenosis, Coarctation of aorta OMIM:300867
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Mucopolysaccharidosis Type 2, Severe Form
Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol... ORPHA:217085
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Pulmonic stenosis, Tetralogy of F... ORPHA:3338
Mucopolysaccharidosis Type 2, Attenuated Form
Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol... ORPHA:217093
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Transient ischemic attack, Coarctation of ... OMIM:600268
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Abnormal aortic morphology, Coarctation of aorta ORPHA:1052
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Tricuspid regurgitation, Mitral regurgitation, Aortic rupture OMIM:614557
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Coarctation of aorta OMIM:300514
Neuroendocrine Neoplasm Of Appendix
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension ORPHA:100079
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Transient ischemic attack, Coronary artery calcification,... ORPHA:51608
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Coarctation of aorta OMIM:617602
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia ORPHA:580
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Interrupted aortic arch, Coarctation of aorta ORPHA:17
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Holoprosencephaly
Arrhythmia, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:2162
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... ORPHA:90348
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension ORPHA:199299
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta OMIM:618454
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Ascending tubular aorta ... OMIM:154700
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Fanconi Anemia
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... ORPHA:84
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Renovascular hypertensio... ORPHA:97685
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
Maternal Phenylketonuria
Double outlet right ventricle, Tetralogy of Fallot, Coarctation of aorta ORPHA:2209
Distal Deletion 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Hardikar Syndrome
Portal hypertension, Hematemesis, Pulmonary artery stenosis, Patent ductus arteriosus, Partial an... OMIM:301068
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Prolactinoma
Hypotension ORPHA:2965
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Truncus arteriosus, Tetralogy of Fallot, Coarctation of aorta ORPHA:508498
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... ORPHA:286
Myhre Syndrome
Hypertension, Patent ductus arteriosus, Aortic valve stenosis, Coarctation of aorta OMIM:139210
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Opitz Gbbb Syndrome
Patent ductus arteriosus, Persistent left superior vena cava, Aortic root aneurysm, Coarctation o... ORPHA:2745
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1507
Diamond-Blackfan Anemia 1
Congestive heart failure, Tricuspid stenosis, Coarctation of aorta OMIM:105650
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Mosaic Trisomy 16
Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta ORPHA:1708
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... OMIM:619472
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries OMIM:617557
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:99226
Acute Liver Failure
Intracranial hemorrhage, Shock, Gastrointestinal hemorrhage, Hypotension ORPHA:90062
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Coarctation of aorta, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy, Bilateral ... OMIM:220111
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Pulmonary arterial hyperten... ORPHA:363611
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Coarctation of aorta ORPHA:1772
Orofaciodigital Syndrome Vi
Coarctation of aorta OMIM:277170
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Pu... ORPHA:353281
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Coarctation of aorta, Hypertension, Hypertrophic cardiomyopathy, Ventri... OMIM:270400
Igg4-Related Kidney Disease
Pericarditis, Abnormal aortic morphology, Arteritis ORPHA:449395
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2308
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial diss... ORPHA:666
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta ane... OMIM:612474
Addison Disease
Orthostatic hypotension, Hypotension ORPHA:85138
Alagille Syndrome 1
Coarctation of aorta, Stroke, Renal artery stenosis, Tetralogy of Fallot, Peripheral pulmonary ar... OMIM:118450
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Robinow Syndrome
Pulmonic stenosis, Coarctation of aorta ORPHA:97360
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of ao... ORPHA:508488
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:274000
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta OMIM:163950
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Tetralogy of Fallot, Coarctation of aorta OMIM:210710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Ab... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Ab... ORPHA:353277
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Aortic isthmus hypoplasia, Persist... OMIM:180849
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Meckel Syndrome, Type 1
Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta OMIM:249000
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Hypotension ORPHA:90794
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Coarctation of aorta OMIM:619480
Diamond-Blackfan Anemia
Radial artery aplasia, Coarctation of aorta ORPHA:124
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Coarctation of aorta OMIM:617088
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Patent ductus arteriosus, Hyphema, Tetralogy of Fallot, Coarctation of ao... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Tetralogy of Fallot, Coarctation of aorta, Pulmonic stenosis, Aortic valv... ORPHA:261537
Pallister-Hall Syndrome
Patent ductus arteriosus, Coarctation of aorta ORPHA:672
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920
Mowat-Wilson Syndrome
Pulmonary artery sling, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Aortic... ORPHA:2152
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Aortic valve stenosis, Coarctation of aorta OMIM:601803
Craniofacial Microsomia 1
Right aortic arch, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:164210

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 Acta2

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 Acta2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of Acta2 in cardiac fibroblasts does not prevent the myofibroblast differentiation or affect the cardiac repair after myocardial infarction. Journal of molecular and cellular cardiology (August 2022) Acta2tm1c(EUCOMM)Wtsi Acta2tm1a(EUCOMM)Wtsi PMC10478266

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
Acta2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Acta2em1(IMPC)H Indel Mice
Acta2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Acta2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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