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Gene: Agxt2 MGI:2146052

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Gene Summary

Name:
alanine-glyoxylate aminotransferase 2
Synonyms:
N/A

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
abnormal auditory brainstem response Agxt2em1(IMPC)Hmgu HET   Early adult 9.14×10-05
preweaning lethality, complete penetrance Agxt2em1(IMPC)Hmgu HOM   Early adult 1.79×10-07

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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 Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Agxt2 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 Agxt2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100

The table below shows human diseases predicted to be associated to Agxt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension OMIM:620734
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Morbid Obesity And Spermatogenic Failure
Hypertension, Myocardial infarction, Congestive heart failure OMIM:615703
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hypertension OMIM:123550
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis OMIM:615506
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension OMIM:619111
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension OMIM:616733
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... ORPHA:439232
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Preeclampsia
Elevated diastolic blood pressure, Elevated systolic blood pressure, Elevated circulating creatin... ORPHA:275555
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Senior-Loken Syndrome
Hypertension ORPHA:3156
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Denys-Drash Syndrome
Hypertension ORPHA:220
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Amyloidosis, Hereditary Systemic 2
Hypertension OMIM:105200
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
C3 Glomerulopathy
Elevated circulating creatinine concentration, Hypertension ORPHA:329918
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Nephronophthisis 2
Pulmonary insufficiency, Elevated circulating creatinine concentration, Hypertension OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hypertension OMIM:612924
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Fanconi Renotubular Syndrome 5
Aminoaciduria, Hypertension OMIM:618913
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hypertension OMIM:612926
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Polyarteritis Nodosa
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis ORPHA:767
Glutaric Aciduria Iii
Hypertension OMIM:231690
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation OMIM:301080
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Liddle Syndrome 1
Hypertension OMIM:177200
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Cerebral hemorrhage, Lacunar strok... ORPHA:136
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Nephronophthisis 18
Hypertension OMIM:615862
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage ORPHA:231160
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hypertension OMIM:612925
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Narcolepsy Type 1
Syncope, Hypertension ORPHA:2073
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concentration, Punct... ORPHA:247691
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypertension OMIM:613095
Ochoa Syndrome
Hypertension ORPHA:2704
Nephroblastoma
Hypertension ORPHA:654
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Juvenile Paget Disease
Hypertension ORPHA:2801
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension ORPHA:494424
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Stiff Skin Syndrome
Hypertension ORPHA:2833
Alopecia Universalis
Hypertension ORPHA:701
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Hypertension OMIM:614034
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Elevated circulating creatinine concentration, Hypertension, Orthostatic hypotension OMIM:223900
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension ORPHA:231580
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hypotension, Hypertension OMIM:174000
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension ORPHA:231632
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypertension, M... OMIM:301500
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:617021
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Hypertension ORPHA:79126
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Hyperaldosteronism, Familial, Type Iii
Hypertension OMIM:613677
Monosomy 18P
Hypertension ORPHA:1598
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension OMIM:615954
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Telangiectasia of the s... ORPHA:758
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Hypertension, Myocardial infarction, Congestive heart failure OMIM:208000
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage OMIM:300845
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp... ORPHA:183
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hypertension, Congestive hear... ORPHA:220393
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure ORPHA:79083
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hypertension OMIM:235400
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Frasier Syndrome
Hypertension ORPHA:347
Werner Syndrome
Telangiectasia of the skin, Hypertension, Myocardial infarction, Congestive heart failure ORPHA:902
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction OMIM:208060
Developmental And Epileptic Encephalopathy 111
Premature ventricular contraction, Hypertension, Sinus tachycardia OMIM:620504
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar... ORPHA:1830
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Gastrointestinal hemorrhage, Hypertension, Congest... ORPHA:85450
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:615474
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Coach Syndrome 1
Hypertension, Portal hypertension OMIM:216360
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Nephronophthisis 1
Hypertension OMIM:256100
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Hypertension OMIM:171400
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Raynaud phenomenon, Hypertensi... ORPHA:91139
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... ORPHA:3342
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large vessel vasculitis, Ren... ORPHA:49041
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Alagille Syndrome
Telangiectasia of the skin, Hypertension ORPHA:52
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Pulmonary arterial hypertension, Hypertension, Cerebral ischemia OMIM:242900
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine concen... ORPHA:340
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ischemic stroke, Telangiectases of the cheeks, Hyper... OMIM:208050
Aicardi-Goutieres Syndrome 9
Hypertension, Portal hypertension, Increased blood pressure, Pericarditis OMIM:619487
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Oligomeganephronia
Elevated circulating creatinine concentration, Hypertension ORPHA:2260
Overlap Myositis
Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon ORPHA:206572
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Livedoid Vasculopathy
Telangiectasia of the skin, Ischemic stroke, Hypertension ORPHA:542643
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Hypertension ORPHA:730
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Acquired Generalized Lipodystrophy
Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy ORPHA:79086
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hypertension OMIM:120330
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Arrhythmia, Hypertension OMIM:614052
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Caudal Regression Syndrome
Hypertension ORPHA:3027
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension ORPHA:402075
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Spondyloenchondrodysplasia
Vasculitis, Hypertension, Raynaud phenomenon ORPHA:1855
Adrenocortical Carcinoma
Palpitations, Hypertension ORPHA:1501
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension OMIM:610489
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Portal hypertension, Hematemesis OMIM:263200
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm... ORPHA:91387
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Lead Poisoning
Hypertension ORPHA:330015
Wagro Syndrome
Hypertension OMIM:612469
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Renal Hypoplasia, Bilateral
Hypertension ORPHA:97362
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypertension, Myocardial infarction ORPHA:90038
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Renal Hypoplasia
Hypertension ORPHA:93101
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Intracranial hemorrhage, H... ORPHA:363618
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Gaisböck Syndrome
Elevated diastolic blood pressure, Angina pectoris, Hypertension, Myocardial infarction, Hypovolemia ORPHA:90041
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hypertension OMIM:234100
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Hurler Syndrome
Angina pectoris, Hypertension, Cardiomyopathy ORPHA:93473
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:614947
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, Abnormal left ventricular function, Hypert... ORPHA:892
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype... ORPHA:394
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Alexander Disease
Hypertension, Hypotension, Sudden cardiac death ORPHA:58
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:216400
Glycogen Storage Disease Ic
Spider hemangioma, Pulmonary arterial hypertension, Hypertension OMIM:232240
Neuroblastoma
Hypertension ORPHA:635
Apert Syndrome
Hypertension ORPHA:87
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Hypertension OMIM:615688
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Renal Agenesis
Hypertension ORPHA:411709
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Posterior Urethral Valve
Hypertension ORPHA:93110
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Sickle Cell Disease
Hypertension OMIM:603903
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism ORPHA:567546
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Hypertension OMIM:617913
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hypertension ORPHA:189427
Alkaptonuria
Aortic valve stenosis, Aminoaciduria, Mitral regurgitation, Mitral stenosis, Hypertension, Myocar... ORPHA:56
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension OMIM:612780
Glycogen Storage Disease Ia
Hypertension OMIM:232200
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hematemesis, Hypertension OMIM:615846
Marshall-Smith Syndrome
Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension OMIM:602535
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Prader-Willi Syndrome
Hypertension ORPHA:739
Senior-Boichis Syndrome
Hypertension, Portal hypertension ORPHA:84081
Postinfectious Vasculitis
Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Raynaud phenomenon, Vasculitis in the skin,... ORPHA:48435
Alport Syndrome
Hypertension ORPHA:63
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr... ORPHA:91347
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Congestive heart failure OMIM:203800
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension ORPHA:90793
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Glycogen Storage Disease Ib
Hypertension OMIM:232220
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypertension, Mitral regurgitation OMIM:611962
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Au-Kline Syndrome
Hypertension OMIM:616580
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Denys-Drash Syndrome
Hypertension OMIM:194080
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi... OMIM:619573
Myhre Syndrome
Hypertension ORPHA:2588
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension OMIM:202010
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertensive crisis, Hypertension ORPHA:544482
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
Acute Transverse Myelitis
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension ORPHA:139417
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Transient ischemic attack, Left ventricular systolic... ORPHA:740
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Mucopolysaccharidosis Type 2, Severe Form
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:217085
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Mucopolysaccharidosis Type 2, Attenuated Form
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:217093
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hypertension, Pulmonary venous hypertension ORPHA:79259
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hypertension OMIM:266920
Generalized Glucocorticoid Resistance Syndrome
Hypertension ORPHA:786
Mucopolysaccharidosis Type 2
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:580
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Arima Syndrome
Hypertension OMIM:243910
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Homozygous Familial Hypercholesterolemia
Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina pectoris, Heart murmur,... ORPHA:391665
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Adams-Oliver Syndrome 1
Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis OMIM:100300
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Multicystic Dysplastic Kidney
Hypertension ORPHA:1851
Cockayne Syndrome
Retinal hemorrhage, Hypertension ORPHA:191
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Ventricular fibrillation, Hypertension OMIM:270400
Atypical Werner Syndrome
Aortic valve stenosis, Telangiectasia of the skin, Hypertension, Congestive heart failure ORPHA:79474
Hypomagnesemia 3, Renal
Elevated circulating creatinine concentration, Hypertension OMIM:248250
Pierson Syndrome
Retinal hemorrhage, Hypertension OMIM:609049
Hardikar Syndrome
Hypertension, Portal hypertension, Hematemesis OMIM:301068
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Renovascular hypertension, Hypertension, Cardiomyopathy ORPHA:3472
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypertension, Portal hypertension ORPHA:731
Blau Syndrome
Large vessel vasculitis, Pulmonary arterial hypertension, Hypertension, Pericarditis ORPHA:90340
Cushing Disease
Capillary fragility, Hypertension, Myocardial infarction ORPHA:96253
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Hypertension associated with pheochromocytoma ORPHA:653
Somatomammotropinoma
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation ORPHA:314769
Acromegaly
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation ORPHA:963
Williams Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Cerebral ischemia, Supravalvular aortic st... ORPHA:904
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Hypertension, Orthostatic hypotension OMIM:606721
Multiple Endocrine Neoplasia Type 1
Hypertension, Hematemesis, Shortened QT interval, Melena ORPHA:652
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Telangiectasia of the skin, Renovas... ORPHA:97685
Systemic Lupus Erythematosus
Hypertension, Raynaud phenomenon ORPHA:536
Neurofibromatosis, Type I
Hypertension OMIM:162200
Renal Dysplasia
Hypertension ORPHA:93108
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99226
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation OMIM:220111
Paroxysmal Nocturnal Hemoglobinuria
Budd-Chiari syndrome, Pulmonary embolism, Myocardial infarction, Hypertension ORPHA:447
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Corneal neovascularization ORPHA:567
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension OMIM:210710
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Bardet-Biedl Syndrome
Hypertension, Cardiomyopathy ORPHA:110
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Neurofibromatosis Type 1
Hypertension ORPHA:636
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Left ventricular systolic dysfunction, Weak pulse, Pulmonary arterial ... ORPHA:51608
Williams-Beuren Syndrome
Portal hypertension, Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Pulmonic ... OMIM:194050
Vascular Ehlers-Danlos Syndrome
Transient ischemic attack, Telangiectasia of the skin, Internal hemorrhage, Renovascular hyperten... ORPHA:286
Cushing Syndrome Due To Ectopic Acth Secretion
Capillary fragility, Hypertension, Myocardial infarction ORPHA:99889
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Corneal neovascularization OMIM:308205
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypertension OMIM:201750
Carney Complex
Hypertension, Congestive heart failure ORPHA:1359
Alström Syndrome
Dilated cardiomyopathy, Congestive heart failure, Portal hypertension, Pulmonary arterial hyperte... ORPHA:64

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 Agxt2

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 Agxt2.

No publications found that use IMPC mice or data for Agxt2.

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
Agxt2tm42687(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Agxt2em1(IMPC)Hmgu Exon Deletion Mice
Agxt2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Agxt2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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