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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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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 systolic blood pressure, Elevated diastolic blood pressure, Elevated mean arterial 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
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Paragangliomas 6
Hypertension OMIM:618464
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Transient ischemic attack, Lacunar stroke, Hypertension OMIM:616779
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Hypertension OMIM:610947
Liddle Syndrome 3
Hypertension OMIM:618126
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Preeclampsia
Elevated circulating creatinine concentration, Elevated systolic blood pressure, Elevated diastol... ORPHA:275555
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension OMIM:615703
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hypertension OMIM:123550
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Abnormal left ventricular... OMIM:540000
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... OMIM:614473
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension OMIM:619111
Moyamoya Disease 6 With Or Without Achalasia
Hypertension, Raynaud phenomenon, Ischemic stroke OMIM:615750
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension OMIM:616733
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Familial Cervical Artery Dissection
Cerebral ischemia, Transient ischemic attack, Hypertension, Subarachnoid hemorrhage, Recurrent ce... ORPHA:36382
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Pulmonary Hypertension, Primary, 1
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis... OMIM:178600
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Senior-Loken Syndrome
Hypertension ORPHA:3156
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Takayasu Arteritis
Pulmonary arterial hypertension, Cerebral ischemia, Hypertension, Hypertrophic cardiomyopathy, My... ORPHA:3287
Denys-Drash Syndrome
Hypertension ORPHA:220
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage OMIM:133100
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613355
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy ORPHA:1349
C3 Glomerulopathy
Elevated circulating creatinine concentration, Hypertension ORPHA:329918
Nephronophthisis 2
Elevated circulating creatinine concentration, Pulmonary insufficiency, Hypertension OMIM:602088
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... ORPHA:31825
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hypertension OMIM:612924
Liddle Syndrome 2
Hypertension OMIM:618114
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Hypertension OMIM:173900
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
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy ORPHA:767
Glutaric Aciduria Iii
Hypertension OMIM:231690
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Fanconi Renotubular Syndrome 5
Aminoaciduria, Hypertension OMIM:618913
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... OMIM:600309
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
Pseudoxanthoma Elasticum
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... OMIM:264800
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hypertension OMIM:612925
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage, Dilated cardiomyopathy ORPHA:280679
Nephronophthisis 18
Hypertension OMIM:615862
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage, Hypertension ORPHA:231160
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Systemic Lupus Erythematosus 17
Hypertensive crisis, Raynaud phenomenon, Mitral regurgitation OMIM:301080
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage ORPHA:251992
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... ORPHA:90065
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... ORPHA:136
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Hypertension, Retinal neova... ORPHA:247691
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Extracranial Carotid Artery Aneurysm
Cerebral ischemia, Vasculitis, Hypertension, Subarachnoid hemorrhage, Arteritis ORPHA:494424
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension OMIM:618620
Liddle Syndrome 1
Hypertension OMIM:177200
Telangiectasia, Hereditary Hemorrhagic, Type 2
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... 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
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypertension OMIM:613095
Familial Hyperaldosteronism Type Iii
Epistaxis, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Juvenile Paget Disease
Hypertension ORPHA:2801
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations ORPHA:231625
Nephroblastoma
Hypertension ORPHA:654
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Polycythemia Vera
Pulmonary embolism, Intermittent claudication, Angina pectoris, Hypertension, Epistaxis, Gastroin... ORPHA:729
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Ochoa Syndrome
Hypertension ORPHA:2704
Paragangliomas 3
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:605373
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Stiff Skin Syndrome
Hypertension ORPHA:2833
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Primary Lipodystrophy
Hypertension, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:90970
Heme Oxygenase 1 Deficiency
Epistaxis, Hypertension, Diffuse alveolar hemorrhage OMIM:614034
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A... ORPHA:437572
Gaucher Disease, Type I
Pulmonary arterial hypertension, Hypertension, Epistaxis, Mitral regurgitation, Aortic valve sten... OMIM:230800
Tetanus
Tachycardia, Bradycardia, Hypertension ORPHA:3299
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension ORPHA:231580
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171300
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Fabry Disease
Transient ischemic attack, Congestive heart failure, Angina pectoris, Hypertension, Myocardial in... OMIM:301500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Elevated circulating creatinine concentration, Hypertension OMIM:174000
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Alagille Syndrome 2
Pulmonic stenosis, Hypertension OMIM:610205
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hypertension, Intracranial hemorrhage, Epistaxis, Second degree ... ORPHA:369929
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension OMIM:615954
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Hypertension ORPHA:79126
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Elevated circulating creatinine concentration, Hypertension, Tachycardia OMIM:223900
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension ORPHA:231632
Hyperaldosteronism, Familial, Type Iii
Hypertension OMIM:613677
Monosomy 18P
Hypertension ORPHA:1598
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy OMIM:208000
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Hypertensi... ORPHA:758
Eosinophilic Granulomatosis With Polyangiitis
Transient ischemic attack, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, M... ORPHA:183
Pediatric-Onset Graves Disease
Sinus tachycardia, Hypertension, Congestive heart failure, Palpitations, Atrial fibrillation ORPHA:525731
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Porphyria
Hypertension ORPHA:738
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Hypertensive crisis, Congestive heart failure, Telangiectasia of... ORPHA:220393
Pparg-Related Familial Partial Lipodystrophy
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:79083
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hypertension OMIM:235400
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch block, Blo... ORPHA:2299
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension OMIM:615812
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Buschke-Ollendorff Syndrome
Hypertension ORPHA:1306
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Frasier Syndrome
Hypertension ORPHA:347
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension OMIM:208060
Hereditary Amyloidosis With Primary Renal Involvement
Hypertension, Elevated circulating creatinine concentration, Congestive heart failure, Gastrointe... ORPHA:85450
Werner Syndrome
Hypertension, Myocardial infarction, Congestive heart failure, Telangiectasia of the skin ORPHA:902
Schimke Immuno-Osseous Dysplasia
Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Transient ischemic attack, C... ORPHA:1830
Congenital Hypothyroidism
Hypotension, Hypertension, Arrhythmia ORPHA:442
Simple Cryoglobulinemia
Raynaud phenomenon, Congestive heart failure, Hypertension, Pericarditis, Myocardial infarction, ... ORPHA:91139
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Second degree atrioventricular block, Hypertension OMIM:615474
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Coach Syndrome 1
Portal hypertension, Hypertension OMIM:216360
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Nephronophthisis 1
Hypertension OMIM:256100
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Hypertension OMIM:171400
Serotonin Syndrome
Hypotension, Tachycardia, Hypertension ORPHA:43116
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Igg4-Related Retroperitoneal Fibrosis
Large vessel vasculitis, Hypertension, Renovascular hypertension, Elevated circulating creatinine... ORPHA:49041
Arterial Tortuosity Syndrome
Cardiac arrest, Congestive heart failure, Hypertension, Dilated cardiomyopathy, Myocardial infarc... ORPHA:3342
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Joubert Syndrome 14
Hypertension, Intracranial hemorrhage OMIM:614424
Bardet-Biedl Syndrome
Hypertension ORPHA:110
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension OMIM:242900
Fabry Disease
Mucosal telangiectasiae, Transient ischemic attack, Bundle branch block, Telangiectasia of the sk... ORPHA:324
Alagille Syndrome
Hypertension, Telangiectasia of the skin ORPHA:52
Hemorrhagic Fever-Renal Syndrome
Hypotension, Intracranial hemorrhage, Internal hemorrhage, Hypertension, Shock, Epistaxis, Palpit... ORPHA:340
Ethylene Glycol Poisoning
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A... ORPHA:31826
Aicardi-Goutieres Syndrome 9
Pericarditis, Hypertension, Portal hypertension, Increased blood pressure OMIM:619487
Arterial Tortuosity Syndrome
Ischemic stroke, Hypertension, Aortic regurgitation, Telangiectases of the cheeks, Aortic valve s... OMIM:208050
Alstrom Syndrome
Hypertension, Congestive heart failure, Dilated cardiomyopathy OMIM:203800
Oligomeganephronia
Elevated circulating creatinine concentration, Hypertension ORPHA:2260
Overlap Myositis
Pulmonary arterial hypertension, Raynaud phenomenon, Hypertension ORPHA:206572
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Hypertension ORPHA:730
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Livedoid Vasculopathy
Hypertension, Ischemic stroke, Telangiectasia of the skin ORPHA:542643
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hypertension OMIM:120330
Acquired Generalized Lipodystrophy
Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy ORPHA:79086
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Carney Triad
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia OMIM:614052
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic valve stenosis, Hypertension, Heart murmur ORPHA:402075
Spondyloenchondrodysplasia
Raynaud phenomenon, Hypertension, Vasculitis ORPHA:1855
Poliomyelitis
Hypotension, Hypovolemic shock, Hypertension ORPHA:2912
Caudal Regression Syndrome
Hypertension ORPHA:3027
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Arrhythmia, Bradycardia, Tach... ORPHA:94093
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension OMIM:610489
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Portal hypertension, Hypertension OMIM:263200
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Adrenocortical Carcinoma
Palpitations, Hypertension ORPHA:1501
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Hypovolemia, Transient ischemic attack, Hypertension, Aortic regurgitation, Abno... ORPHA:91387
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Lead Poisoning
Hypertension ORPHA:330015
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Renal Hypoplasia, Bilateral
Hypertension ORPHA:97362
Alkaptonuria
Aminoaciduria, Myocardial infarction, Hypertension ORPHA:56
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Myocardial infarction, Hypertension ORPHA:90038
Renal Hypoplasia
Hypertension ORPHA:93101
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia OMIM:614653
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypertension ORPHA:1764
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Wagro Syndrome
Hypertension OMIM:612469
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Congestive heart failure, Mitral regurgitation, Aortic val... ORPHA:363618
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Crimean-Congo Hemorrhagic Fever
Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope... ORPHA:99827
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Mitr... OMIM:614008
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Hurler Syndrome
Hypertension, Angina pectoris, Cardiomyopathy ORPHA:93473
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Paragangliomas 4
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:115310
Classic Homocystinuria
Pulmonary embolism, Cerebral ischemia, Hypertension, Intracranial hemorrhage, Gastrointestinal he... ORPHA:394
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Hallermann-Streiff Syndrome
Pulmonary arterial hypertension, Telangiectasia, Hypertension OMIM:234100
Von Hippel-Lindau Disease
Hypertension, Myocardial infarction, Abnormal left ventricular function, Palpitations, Arrhythmia... ORPHA:892
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Raynaud phenomenon, Dilated cardiomyopathy, Hypertension, Portal hypertension, Vasculitis OMIM:615688
Apert Syndrome
Hypertension ORPHA:87
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Gaisböck Syndrome
Hypovolemia, Hypertension, Angina pectoris, Myocardial infarction, Elevated diastolic blood pressure ORPHA:90041
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Renal Agenesis
Hypertension ORPHA:411709
Granulomatosis With Polyangiitis
Cerebral ischemia, Angina pectoris, Hypertension, Pericarditis, Epistaxis, Gastrointestinal hemor... ORPHA:900
Alexander Disease
Sudden cardiac death, Hypertension, Hypotension ORPHA:58
Sickle Cell Disease
Hypertension OMIM:603903
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Posterior Urethral Valve
Hypertension ORPHA:93110
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage ORPHA:90795
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension ORPHA:189427
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Hypertension ORPHA:567546
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Spider hemangioma, Hypertension OMIM:232240
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Hypertension OMIM:617913
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension OMIM:612780
Alport Syndrome 3, Autosomal Dominant
Hypertension OMIM:104200
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:216400
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Primary Pigmented Nodular Adrenocortical Disease
Hypertension ORPHA:189439
Glycogen Storage Disease Ia
Hypertension OMIM:232200
Aicardi-Goutieres Syndrome 7
Hypertension, Hypertrophic cardiomyopathy, Hematemesis, Hematochezia, Vasculitis OMIM:615846
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Prader-Willi Syndrome
Hypertension ORPHA:739
Tsh-Secreting Pituitary Adenoma
Hypotension, Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failure, Hyper... ORPHA:91347
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Premature ventricular contraction, Hypertension OMIM:602535
Postinfectious Vasculitis
Ischemic stroke, Raynaud phenomenon, Cerebral vasculitis, Vasculitis in the skin, Hypertension, C... ORPHA:48435
Senior-Boichis Syndrome
Portal hypertension, Hypertension ORPHA:84081
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Glycogen Storage Disease Ib
Hypertension OMIM:232220
Alport Syndrome
Hypertension ORPHA:63
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension ORPHA:90793
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Hunter-Macdonald Syndrome
Aortic regurgitation, Mitral regurgitation, Hypertension OMIM:611962
Blau Syndrome
Pericarditis, Hypertension OMIM:186580
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Heart murmur, Angina pectoris, Hypertension, Supravalvular aortic stenosis,... ORPHA:391665
Nelson Syndrome
Hypertension, Intracranial hemorrhage ORPHA:199244
Au-Kline Syndrome
Hypertension OMIM:616580
Denys-Drash Syndrome
Hypertension OMIM:194080
Myhre Syndrome
Hypertension ORPHA:2588
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension OMIM:202010
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Dilated cardiomyopathy, Third degree atrioventricular block, Hyp... OMIM:619573
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Myocarditis, Hypertension ORPHA:544482
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension ORPHA:139417
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Left ventricular diastolic dysfunction, Transient ischemic attac... ORPHA:740
Scalp-Ear-Nipple Syndrome
Hypertension, Supraventricular tachycardia, Congestive heart failure OMIM:181270
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
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, Hypertension, Heart murmur, Arrhythmia ORPHA:217085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hypertension, Pulmonary venous hypertension ORPHA:79259
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Hypertension, Heart murmur, Arrhythmia ORPHA:217093
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Mucopolysaccharidosis Type 2
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:580
Arima Syndrome
Hypertension OMIM:243910
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Aortic valve stenosis, Pulmonic stenosis, Hypertension OMIM:100300
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Hypertension, Ventricular fibrillation OMIM:270400
Atypical Werner Syndrome
Aortic valve stenosis, Hypertension, Congestive heart failure, Telangiectasia of the skin ORPHA:79474
Cockayne Syndrome
Retinal hemorrhage, Hypertension ORPHA:191
Pierson Syndrome
Retinal hemorrhage, Hypertension OMIM:609049
Hardikar Syndrome
Hematemesis, Portal hypertension, Hypertension OMIM:301068
Somatomammotropinoma
Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension ORPHA:314769
Acromegaly
Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension ORPHA:963
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Hypertension associated with pheochromocytoma, Palpitations ORPHA:653
Autosomal Recessive Polycystic Kidney Disease
Portal hypertension, Hypertension, Gastrointestinal hemorrhage ORPHA:731
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy ORPHA:3472
17Q11 Microdeletion Syndrome
Pulmonary arterial hypertension, Hypertension, Hypertrophic cardiomyopathy, Renovascular hyperten... ORPHA:97685
Neurofibromatosis, Type I
Hypertension OMIM:162200
Cushing Disease
Capillary fragility, Myocardial infarction, Hypertension ORPHA:96253
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Williams Syndrome
Sudden cardiac death, Cerebral ischemia, Hypertension, Congestive heart failure, Supravalvular ao... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Hematemesis, Shortened QT interval, Hypertension, Melena ORPHA:652
Blau Syndrome
Large vessel vasculitis, Hypertension, Pericarditis, Pulmonary arterial hypertension ORPHA:90340
Renal Dysplasia
Hypertension ORPHA:93108
Bartter Syndrome Type 4
Hypertension ORPHA:89938
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Orthostatic hypotension, Hypertension OMIM:606721
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension OMIM:220111
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99413
Turner Syndrome
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:881
Mosaic Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99228
Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99226
22Q11.2 Deletion Syndrome
Hypertensive crisis, Corneal neovascularization, Gastrointestinal hemorrhage ORPHA:567
Paroxysmal Nocturnal Hemoglobinuria
Pulmonary embolism, Myocardial infarction, Hypertension, Budd-Chiari syndrome ORPHA:447
Neurofibromatosis Type 1
Hypertension ORPHA:636
Keutel Syndrome
Pulmonic stenosis, Hypertension OMIM:245150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension OMIM:210710
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Williams-Beuren Syndrome
Hypertension, Supravalvular aortic stenosis, Mitral regurgitation, Portal hypertension, Pulmonic ... OMIM:194050
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Retinal hemorrhage, Transient ischemic attack, Hypertension, Lef... ORPHA:51608
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Corneal neovascularization OMIM:308205
Vascular Ehlers-Danlos Syndrome
Transient ischemic attack, Hypertension, Internal hemorrhage, Renovascular hypertension, Telangie... ORPHA:286
Cushing Syndrome Due To Ectopic Acth Secretion
Capillary fragility, Myocardial infarction, Hypertension ORPHA:99889
Carney Complex
Hypertension, Congestive heart failure ORPHA:1359
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypertension OMIM:201750
Alström Syndrome
Pulmonary arterial hypertension, Hypertension, Congestive heart failure, Dilated cardiomyopathy, ... 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.

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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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