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Gene: Nox1 MGI:2450016

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Gene Summary

Name:
NADPH oxidase 1
Synonyms:
GP91 phox homolog,  Nox-1

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.

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Nox1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nox1 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
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... ORPHA:229
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... OMIM:615779
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
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
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... OMIM:618780
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... OMIM:613854
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... ORPHA:66529
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Atrial fibrillation OMIM:616166
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
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
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Vasculitis, Abnormal circulating interl... ORPHA:70578
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... ORPHA:91387
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... ORPHA:3092
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis OMIM:618496
Partial Atrioventricular Septal Defect
Atrial flutter, Transient ischemic attack, Angina pectoris, Patent ductus arteriosus, Anomalous p... ORPHA:1330
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Increased circulating interleukin 6 concentration, Heart block, Capillary leak, Incr... ORPHA:542323
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Coarctation of aorta OMIM:616069
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Heart murmur, Coarctation of aorta, Hypertension, Asc... ORPHA:402075
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Increased circulating renin level, Hypotension OMIM:620125
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension OMIM:145600
Analbuminemia
Patent ductus arteriosus, Hypotension OMIM:616000
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Cardiac Diverticulum
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... ORPHA:1686
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Scimitar Syndrome
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Descendi... ORPHA:185
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1166
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Stroke, Cerebral ischemia... ORPHA:449285
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri... OMIM:212138
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Elevated circulating creatine kinase concentration, Cerebral hemorrhage,... OMIM:620300
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Increased circulating renin level, Hypotension ORPHA:556037
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Hypotension OMIM:203400
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta ORPHA:101028
Perry Syndrome
Hypotension ORPHA:178509
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... ORPHA:100080
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Increased circulating renin level, Hypotension ORPHA:556030
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis ORPHA:2248
Homozygous Familial Hypercholesterolemia
Angina pectoris, Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid art... ORPHA:391665
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... ORPHA:392
Nipah Virus Disease
Hypotension ORPHA:99825
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Double Outlet Right Ventricle
Tachycardia, Double outlet right ventricle, Heart murmur, Coarctation of aorta, Pulmonic stenosis... ORPHA:3426
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
Acute Lung Injury
Shock, Increased circulating interleukin 6 concentration, Diffuse alveolar hemorrhage, Abnormalit... ORPHA:178320
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Increased circulating renin level, Hypotension OMIM:177735
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... ORPHA:980
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho... ORPHA:3384
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens... ORPHA:97287
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... ORPHA:363705
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... ORPHA:3342
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Dengue Fever
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension ORPHA:99828
Diabetic Embryopathy
Abnormality of the pulmonary artery, Tetralogy of Fallot, Transposition of the great arteries, Ab... ORPHA:1926
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Arterial Tortuosity Syndrome
Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenosis, Hypertension, Aortic ... OMIM:208050
Familial Hypoaldosteronism
Orthostatic hypotension, Increased circulating renin level, Hypovolemia, Hypotension ORPHA:427
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta OMIM:616559
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... ORPHA:100075
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:188
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal aortic morphology, Transposition of... ORPHA:251071
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Tricuspid regurgitation, Anomalous pulmonary venous return, Coarctation... ORPHA:1120
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta ORPHA:284169
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension, Elevated creatine kinase after ... ORPHA:159
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... OMIM:208530
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... ORPHA:397
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta OMIM:620210
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta OMIM:614857
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Meningococcal Meningitis
Shock, Stroke, Hypotension ORPHA:33475
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Aa Amyloidosis
Hypotension ORPHA:85445
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dilated ca... OMIM:614921
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Transaldolase Deficiency
Patent ductus arteriosus, Telangiectasia, Coarctation of aorta OMIM:606003
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypotension ORPHA:3452
Legionnaires Disease
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:549
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Loeys-Dietz Syndrome 4
Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic dissection, A... OMIM:614816
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta ORPHA:2876
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Double outlet right ventricle, Atrioventricular block, Coarctation of aorta ORPHA:371428
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension, Increased circulating interleukin 6 concentration ORPHA:90051
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Aortic valve stenosis, Tetralogy ... ORPHA:96147
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Increased circulating interleukin 6 concentration, Epistaxis, Hematemesis, Ca... ORPHA:340
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Arterial rupture, Aortic dissection, Arterial dissection, Abnormal veno... ORPHA:1900
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Persistent left superior vena cava, Coarctation of aorta OMIM:618494
Meacham Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a... ORPHA:3097
Meacham Syndrome
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aorta, Right ... OMIM:608978
Alport Syndrome
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Pulmonary artery atresia, Trun... OMIM:601186
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta OMIM:618929
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Interna... ORPHA:99827
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Supravalvar pulmon... OMIM:618164
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Acute Adrenal Insufficiency
Orthostatic hypotension, Myocardial infarction, Hypovolemia, Stroke, Increased circulating renin ... ORPHA:95409
Cholera
Hypovolemic shock, Tachycardia, Stroke, Hypotension ORPHA:173
Noonan Syndrome 2
Abnormal coronary artery origin, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, ... OMIM:605275
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Loeys-Dietz Syndrome
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... ORPHA:60030
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta,... OMIM:617506
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection OMIM:618343
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Increased circulating renin level, Palpitations, ... OMIM:263800
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ... OMIM:270100
Noonan Syndrome 10
Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:616564
Pagod Syndrome
Sudden cardiac death, Pulmonary artery hypoplasia, Abnormal aortic morphology, Arrhythmia, Abnorm... ORPHA:991
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Kleefstra Syndrome
Pulmonary artery stenosis, Tetralogy of Fallot, Arrhythmia, Coarctation of aorta ORPHA:261494
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous p... OMIM:265380
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Pulmonary arterial hyp... ORPHA:2396
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Acrocardiofacial Syndrome
Truncus arteriosus, Tetralogy of Fallot, Mitral stenosis, Coarctation of aorta ORPHA:2008
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:617159
Bartter Syndrome, Type 3
Increased circulating renin level, Hypotension OMIM:607364
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology ORPHA:2059
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmonary artery stenosis, Paten... ORPHA:99125
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Dilatat... ORPHA:284984
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension ORPHA:199299
Heterotaxy, Visceral, 1, X-Linked
Mitral stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Dextrotransposition of the gr... OMIM:306955
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Fg Syndrome Type 1
Pulmonary arterial hypertension, Coarctation of aorta ORPHA:93932
Marfan Syndrome
Congestive heart failure, Descending aortic dissection, Dilatation of an abdominal artery, Ascend... ORPHA:558
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Stroke, Hypotension, Pulmonary a... ORPHA:275761
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Coarctation of aorta OMIM:600987
Galloway-Mowat Syndrome 3
Hypertension, Coarctation of aorta OMIM:617729
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating renin level, Hypotension ORPHA:90791
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta OMIM:614114
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Coarctation of aorta OMIM:617602
Kabuki Syndrome 2
Pulmonic stenosis, Coarctation of aorta OMIM:300867
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
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary artery hypoplasia, Aortic ro... OMIM:620025
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, ST segment depression,... ORPHA:466650
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Abnormal aortic morphology, Coarctation of aorta ORPHA:1052
Prolactinoma
Hypotension ORPHA:2965
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Increa... ORPHA:99826
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Decreased circulating antibody level ORPHA:293978
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
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
Holoprosencephaly
Arrhythmia, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:2162
Mucopolysaccharidosis Type 2, Attenuated Form
Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol... ORPHA:217093
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Interrupted aortic arch, Coarctation of aorta ORPHA:17
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Transient ischemic attack, Coronary artery calcification,... ORPHA:51608
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Tricuspid regurgitation, Mitral regurgitation, Aortic rupture OMIM:614557
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Transient ischemic attack, Coarctation of ... OMIM:600268
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia ORPHA:580
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Portal hypertension ORPHA:567983
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... ORPHA:90348
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta OMIM:618454
Fanconi Anemia
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... ORPHA:84
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Ascending tubular aorta ... OMIM:154700
Maternal Phenylketonuria
Double outlet right ventricle, Tetralogy of Fallot, Coarctation of aorta ORPHA:2209
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... ORPHA:358
Distal Deletion 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Truncus arteriosus, Tetralogy of Fallot, Coarctation of aorta ORPHA:508498
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
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Renovascular hypertensio... ORPHA:97685
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Addison Disease
Orthostatic hypotension, Hypotension ORPHA:85138
Hardikar Syndrome
Portal hypertension, Hematemesis, Pulmonary artery stenosis, Patent ductus arteriosus, Partial an... OMIM:301068
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... ORPHA:286
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Myhre Syndrome
Hypertension, Patent ductus arteriosus, Aortic valve stenosis, Coarctation of aorta OMIM:139210
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... OMIM:619472
Mosaic Trisomy 16
Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta ORPHA:1708
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries OMIM:617557
Orofaciodigital Syndrome Vi
Coarctation of aorta OMIM:277170
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
Alagille Syndrome 1
Coarctation of aorta, Stroke, Renal artery stenosis, Tetralogy of Fallot, Peripheral pulmonary ar... OMIM:118450
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial diss... ORPHA:666
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Diamond-Blackfan Anemia 1
Congestive heart failure, Tricuspid stenosis, Coarctation of aorta OMIM:105650
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Coarctation of aorta, Hypertension, Hypertrophic cardiomyopathy, Ventri... OMIM:270400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta ane... OMIM:612474
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2308
Igg4-Related Kidney Disease
Pericarditis, Abnormal aortic morphology, Arteritis ORPHA:449395
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:274000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Pu... ORPHA:353281
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Coarctation of aorta ORPHA:1772
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Coarctation of aorta, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy, Bilateral ... OMIM:220111
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Aortic isthmus hypoplasia, Persist... OMIM:180849
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Hypotension ORPHA:90794
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Pulmonary arterial hyperten... ORPHA:363611
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
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
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Meckel Syndrome, Type 1
Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta OMIM:249000
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
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Tetralogy of Fallot, Coarctation of aorta OMIM:210710
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta OMIM:163950
Diamond-Blackfan Anemia
Radial artery aplasia, Coarctation of aorta ORPHA:124
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Coarctation of aorta OMIM:619480
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Coarctation of aorta OMIM:617088
Bartter Syndrome, Type 1, Antenatal
Low-to-normal blood pressure OMIM:601678
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure OMIM:241200
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Pallister-Hall Syndrome
Patent ductus arteriosus, Coarctation of aorta ORPHA:672
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
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
Craniofacial Microsomia 1
Right aortic arch, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:164210
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Aortic valve stenosis, Coarctation of aorta 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 Nox1

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 Nox1.

No publications found that use IMPC mice or data for Nox1.

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
Nox1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nox1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Nox1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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