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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 5.66×10-05
preweaning lethality, complete penetrance Agxt2em1(IMPC)Hmgu HOM   Early adult 1.79×10-07

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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.

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
Sensorineural hearing impairment, Abnormal auditory evoked potentials 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
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration OMIM:161900
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia 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
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Preeclampsia
Hypertension, Elevated systolic blood pressure, Elevated circulating creatinine concentration, El... ORPHA:275555
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction OMIM:615703
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Cryoglobulinemia, Familial Mixed
Hypertension, Elevated circulating creatinine concentration OMIM:123550
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... OMIM:614473
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Elevated circulating creatinine concentration ORPHA:567544
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Coach Syndrome 2
Hypertension, Elevated circulating creatinine concentration OMIM:619111
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Elevated circulating creatinine concentration OMIM:616733
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Familial Cervical Artery Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... ORPHA:36382
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Senior-Loken Syndrome
Hypertension ORPHA:3156
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Takayasu Arteritis
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... ORPHA:3287
Denys-Drash Syndrome
Hypertension ORPHA:220
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
C3 Glomerulopathy
Hypertension, Elevated circulating creatinine concentration ORPHA:329918
Nephronophthisis 2
Hypertension, Pulmonary insufficiency, Elevated circulating creatinine concentration OMIM:602088
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Elevated circulating creatinine concentration OMIM:612924
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Elevated circulating creatinine concentration OMIM:612926
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Glutaric Aciduria Iii
Hypertension OMIM:231690
Fanconi Renotubular Syndrome 5
Hypertension, Aminoaciduria OMIM:618913
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Liddle Syndrome 1
Hypertension OMIM:177200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Elevated circulating creatinine concentration OMIM:612925
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Lacunar st... ORPHA:136
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Nephronophthisis 18
Hypertension OMIM:615862
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Elevated circu... ORPHA:247691
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis ORPHA:494424
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Elevated circulating creatinine concentration OMIM:613095
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Ochoa Syndrome
Hypertension ORPHA:2704
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Nephroblastoma
Hypertension ORPHA:654
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Juvenile Paget Disease
Hypertension ORPHA:2801
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Stiff Skin Syndrome
Hypertension ORPHA:2833
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Heme Oxygenase 1 Deficiency
Hypertension, Epistaxis, Diffuse alveolar hemorrhage OMIM:614034
Gaucher Disease, Type I
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... OMIM:230800
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Primary Unilateral Adrenal Hyperplasia
Hypertension, Palpitations, Epistaxis ORPHA:231580
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Elevated circulating creatinine concentration, Hypotension OMIM:174000
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:617021
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Elevated circulating creatinine concentration, Tachycardia OMIM:223900
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Acute Interstitial Pneumonia
Hypertension, Elevated circulating creatinine concentration ORPHA:79126
Ectopic Aldosterone-Producing Tumor
Hypertension, Epistaxis ORPHA:231632
Hyperaldosteronism, Familial, Type Iii
Hypertension OMIM:613677
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension OMIM:615954
Monosomy 18P
Hypertension ORPHA:1598
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage OMIM:300845
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction OMIM:208000
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... ORPHA:183
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia ORPHA:525731
Pparg-Related Familial Partial Lipodystrophy
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:79083
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... ORPHA:220393
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Elevated circulating creatinine concentration OMIM:235400
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Frasier Syndrome
Hypertension ORPHA:347
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction OMIM:208060
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hypertension, Elevated circulating creatinine concentration, Congest... ORPHA:85450
Werner Syndrome
Hypertension, Telangiectasia of the skin, Congestive heart failure, Myocardial infarction ORPHA:902
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:615474
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... ORPHA:1830
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Coach Syndrome 1
Hypertension, Portal hypertension OMIM:216360
Nephronophthisis 1
Hypertension OMIM:256100
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Palpitations OMIM:171400
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Bardet-Biedl Syndrome
Hypertension ORPHA:110
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Renovascular hypertension, Large vessel vasculitis... ORPHA:49041
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Alagille Syndrome
Hypertension, Telangiectasia of the skin ORPHA:52
Schimke Immunoosseous Dysplasia
Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, Transient ischemic attack OMIM:242900
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Elevated circulating creatinine concentration, Capill... ORPHA:340
Aicardi-Goutieres Syndrome 9
Hypertension, Pericarditis, Increased blood pressure, Portal hypertension OMIM:619487
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Arterial Tortuosity Syndrome
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... OMIM:208050
Oligomeganephronia
Hypertension, Elevated circulating creatinine concentration ORPHA:2260
Overlap Myositis
Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension ORPHA:206572
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure OMIM:203800
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Elevated circulating creatinine concentration ORPHA:730
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Livedoid Vasculopathy
Telangiectasia of the skin, Hypertension, Ischemic stroke ORPHA:542643
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Papillorenal Syndrome
Hypertension, Elevated circulating creatinine concentration OMIM:120330
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension ORPHA:79086
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614052
Caudal Regression Syndrome
Hypertension ORPHA:3027
Spondyloenchondrodysplasia
Raynaud phenomenon, Hypertension, Vasculitis ORPHA:1855
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur ORPHA:402075
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Adrenocortical Carcinoma
Hypertension, Palpitations ORPHA:1501
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension OMIM:610489
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... ORPHA:91387
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hypertension, Portal hypertension OMIM:263200
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Lead Poisoning
Hypertension ORPHA:330015
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Wagro Syndrome
Hypertension OMIM:612469
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Renal Hypoplasia, Bilateral
Hypertension ORPHA:97362
Alkaptonuria
Hypertension, Aminoaciduria, Myocardial infarction ORPHA:56
Renal Hypoplasia
Hypertension ORPHA:93101
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Elevated circulating creatinine concentration, Myocardial infarction ORPHA:90038
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic val... ORPHA:363618
Nestor-Guillermo Progeria Syndrome
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... OMIM:614008
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Pulmonary arterial hypertension OMIM:613834
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Hypertension ORPHA:90041
Hurler Syndrome
Cardiomyopathy, Hypertension, Angina pectoris ORPHA:93473
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Apert Syndrome
Hypertension ORPHA:87
Renal Agenesis
Hypertension ORPHA:411709
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension OMIM:615688
Glycogen Storage Disease Ic
Hypertension, Pulmonary arterial hypertension, Spider hemangioma OMIM:232240
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Posterior Urethral Valve
Hypertension ORPHA:93110
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypertension, Aminoaciduria OMIM:617913
Sickle Cell Disease
Hypertension OMIM:603903
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hypertension ORPHA:189427
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism ORPHA:567546
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension OMIM:612780
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Glycogen Storage Disease Ia
Hypertension OMIM:232200
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy OMIM:615846
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Senior-Boichis Syndrome
Hypertension, Portal hypertension ORPHA:84081
Prader-Willi Syndrome
Hypertension ORPHA:739
Postinfectious Vasculitis
Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti... ORPHA:48435
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
Alport Syndrome
Hypertension ORPHA:63
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypertension, Mitral regurgitation OMIM:611962
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Au-Kline Syndrome
Hypertension OMIM:616580
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Denys-Drash Syndrome
Hypertension OMIM:194080
Myhre Syndrome
Hypertension ORPHA:2588
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension OMIM:202010
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Hypertensive crisis ORPHA:544482
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Immunodeficiency 87 And Autoimmunity
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... OMIM:619573
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Generalized Glucocorticoid Resistance Syndrome
Hypertension ORPHA:786
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hypertension OMIM:266920
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur ORPHA:217085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Pulmonary venous hypertension, Epistaxis ORPHA:79259
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur ORPHA:217093
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Arima Syndrome
Hypertension OMIM:243910
Mucopolysaccharidosis Type 2
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:580
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... ORPHA:391665
Adams-Oliver Syndrome 1
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:100300
Myhre Syndrome
Hypertension, Aortic valve stenosis OMIM:139210
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Smith-Lemli-Opitz Syndrome
Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation OMIM:270400
Atypical Werner Syndrome
Hypertension, Aortic valve stenosis, Telangiectasia of the skin, Congestive heart failure ORPHA:79474
Systemic Lupus Erythematosus
Raynaud phenomenon, Hypertension ORPHA:536
Cockayne Syndrome
Hypertension, Retinal hemorrhage ORPHA:191
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Hardikar Syndrome
Hematemesis, Hypertension, Portal hypertension OMIM:301068
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy ORPHA:3472
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypertension, Portal hypertension ORPHA:731
Blau Syndrome
Hypertension, Pericarditis, Pulmonary arterial hypertension, Large vessel vasculitis ORPHA:90340
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Cushing Disease
Hypertension, Capillary fragility, Myocardial infarction ORPHA:96253
Acromegaly
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Somatomammotropinoma
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:314769
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Renovascular hypertension, Hypertension, Pulmonic stenosis, Pulmonary... ORPHA:97685
Neurofibromatosis, Type I
Hypertension OMIM:162200
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Williams Syndrome
Sudden cardiac death, Myocardial infarction, Congestive heart failure, Renovascular hypertension,... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Melena, Hypertension, Shortened QT interval, Hematemesis ORPHA:652
Renal Dysplasia
Hypertension ORPHA:93108
Bartter Syndrome Type 4
Hypertension ORPHA:89938
Lipodystrophy, Familial Partial, Type 7
Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension OMIM:606721
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy OMIM:220111
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
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis ORPHA:567
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Budd-Chiari syndrome, Myocardial infarction, Pulmonary embolism ORPHA:447
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension OMIM:210710
Neurofibromatosis Type 1
Hypertension ORPHA:636
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Williams-Beuren Syndrome
Portal hypertension, Hypertension, Mitral regurgitation, Pulmonic stenosis, Supravalvular aortic ... OMIM:194050
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... ORPHA:51608
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Corneal neovascularization OMIM:308205
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertension, Hypertension, I... ORPHA:286
Cushing Syndrome Due To Ectopic Acth Secretion
Hypertension, Capillary fragility, Myocardial infarction ORPHA:99889
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypertension OMIM:201750
Carney Complex
Hypertension, Congestive heart failure ORPHA:1359
Alström Syndrome
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Abnormal cor... 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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