Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
corticotropin releasing hormone receptor 2
Synonyms:
CRH-R2,  CRFR2alpha,  CRF-R2,  CRF 2 receptor,  Crfr2,  CRFR2beta

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Crhr2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Crhr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Lithium Transport
Bipolar affective disorder OMIM:152420
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Major Affective Disorder 1
Depression OMIM:125480
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Geniospasm 1
Anxiety OMIM:190100
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertension, Type II diabetes mellitus, Polyphagia, Hypertriglyceridem... ORPHA:71529
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolem... OMIM:610947
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus a... ORPHA:280356
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hypertension, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Lipodystrophy, Familial Partial, Type 4
Hypertension, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista... OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Lipodystrophy, Familial Partial, Type 3
Hypertension, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL chol... OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Chorea, Benign Hereditary
Anxiety OMIM:118700
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Insulin resistance, Lipoatrophy, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Dorsocervical fat p... OMIM:615830
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level OMIM:618464
Melorheostosis With Osteopoikilosis
Hypertension, Multiple lipomas ORPHA:1879
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin, Ataxia, Emotional lability, Broad-based gait OMIM:206570
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hypertension, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid ... ORPHA:225
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Gait disturbance, Dysphagia, Hypertension, Intracranial hemorrhage, Lacunar ... ORPHA:136
Spastic Paraplegia-Nephritis-Deafness Syndrome
Gait disturbance, Hypertension ORPHA:2820
Adrenocortical Carcinoma
Hypertension, Increased urinary cortisol level, Increased circulating androstenedione concentrati... ORPHA:1501
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Primary Lipodystrophy
Hypertension, Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Cardi... ORPHA:90970
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased adipose tissue, Gait disturbance, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, ... ORPHA:1349
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Maternal diabetes, Loss of subcutaneous adipose tissue... ORPHA:79083
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Morgagni-Stewart-Morel Syndrome
Hypertension, Suicidal ideation, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Depression ORPHA:77296
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610489
Coproporphyria, Hereditary
Anxiety, Hypertension, Depression, Tachycardia OMIM:121300
Glucocorticoid Resistance, Generalized
Anxiety, Hypertension, Hypoglycemia OMIM:615962
Trimethylaminuria
Hypertension, Depression, Tachycardia OMIM:602079
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Acquired Generalized Lipodystrophy
Hypertension, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Hyperlipid... ORPHA:31825
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Increased urinary cortisol level, Hyperglycemia, Increased circulating cortisol lev... OMIM:615954
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Primary Pigmented Nodular Adrenocortical Disease
Hypertension, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia, Glucos... ORPHA:189439
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension, Increased urinary cortisol level, Hyperlipidemia, Glucose intolerance, Increased ci... ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Knee flexion contracture, Irri... OMIM:618156
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Hypertension, Lipoatrophy, Type II diabetes mellitus ORPHA:2833
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated circulating creatinine concentration, E... ORPHA:275555
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Congestive heart failure, Diabetes mellitus, Wolff-Parkinson-White syndrome, Abnorm... OMIM:540000
Rowley-Rosenberg Syndrome
Hypertension, Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue OMIM:268500
Cirrhosis, Familial
Increased level of propylene glycol in blood, Hypertension, Pulmonary arterial hypertension, Leth... OMIM:215600
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:219080
Familial Cervical Artery Dissection
Hypertension, Abnormality of connective tissue, Recurrent cerebral hemorrhage, Cerebral ischemia,... ORPHA:36382
Early-Onset Schizophrenia
Unhappy demeanor, Polyphagia, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotio... ORPHA:96369
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Torticollis, Focal dystonia, Bradykinesia, Ataxia, Generalized dystonia, Transient ... ORPHA:98808
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... OMIM:618620
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Aggressive behavior, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:613355
Riboflavin Transporter Deficiency
Aggressive behavior, Ataxia, Dysphagia, Hypertension ORPHA:97229
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration OMIM:161900
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Pulmonary arterial hypertension, Lethargy OMIM:605711
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Dysmetria, Spastic gait, Elevated circulating creatine kinase concentration,... ORPHA:96180
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hypocholesterolemia OMIM:610883
Overlap Myositis
Hypertension, Dysphagia, Abnormality of connective tissue, Elevated circulating creatine kinase c... ORPHA:206572
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Diabetes... ORPHA:449291
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Hypertension, Type I diabetes mellitus ORPHA:1192
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Dysphagia, Raynaud phenomenon OMIM:615750
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Hyperglycemia, ST segment depression, Prolonged QTc i... ORPHA:90065
Pediatric-Onset Graves Disease
Mood swings, Hypertension, Increased circulating T4 level, Atrial fibrillation, Polydipsia, Polyp... ORPHA:525731
Xfe Progeroid Syndrome
Hypertension, Absence of subcutaneous fat, Enamel hypoplasia OMIM:610965
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
C3 Glomerulopathy
Hypertension, Elevated circulating creatinine concentration, Lipodystrophy ORPHA:329918
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Familial Hyperaldosteronism Type I
Hypertension, Intracranial hemorrhage, Polydipsia, Hypokalemia, Epistaxis, Dexamethasone-suppress... ORPHA:403
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Hypertension, Abnormal T-wave, Re... ORPHA:563
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Atrophic scars, Ischemic stroke OMIM:182410
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia, Patent ductus arteriosus OMIM:617021
Stiff-Person Syndrome
Hypertension, Agoraphobia, Tachycardia, Diabetes mellitus, Anxiety, Depression OMIM:184850
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Rhabdoid Tumor
Hypertension, Hypercalcemia, Irritability, Internal hemorrhage ORPHA:69077
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Hyperuricemia, Ataxia, Arrhythmia ORPHA:3222
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Elevated circulating creatinine concentration, Flexion contracture OMIM:616733
Familial Hyperaldosteronism Type Iii
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Polydipsia, Hypokalemia, Epistaxis,... ORPHA:251274
Beta-Ketothiolase Deficiency
Hypertension, Hypoglycemia, Hyperglycemia, Apathy, Hyperammonemia, Hyperuricemia, Ataxia, Oral av... ORPHA:134
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Hypertension, Intracranial hemorrhage, Polydipsia, Hypokalemia, Epistaxis, Pulmonary a... ORPHA:369929
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension, Hypoalbuminemia ORPHA:54370
Postorgasmic Illness Syndrome
Palpitations, Hypertension, Irritability, Depression ORPHA:279947
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear/anxiety-related behavior, Hypertension, Hypokalemia, Glucose intolerance, Impaired ... OMIM:219090
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Dysphagia, Hypertension, Dysmetria, Bradykinesia, Ataxia, Depression, Anxiety, ... ORPHA:93256
Senior-Loken Syndrome
Ataxia, Hypertension ORPHA:3156
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Abnormal subcutaneous fat tissue distribution, Cardiomyopathy, Ataxia, Flexi... OMIM:212065
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Seckel Syndrome 10
Hypertension, Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucos... OMIM:617253
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension, Type I diabetes mellitus ORPHA:181
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia, Hypokalemia ORPHA:526
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Gaisböck Syndrome
Hypertension, Hyperproteinemia, Elevated diastolic blood pressure, Increased circulating renin le... ORPHA:90041
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure, Hypophosphatemic rickets OMIM:614473
Non-Functioning Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Palpitations, Congestive heart failure, Panic attack, Hyperte... ORPHA:94080
Grange Syndrome
Hypertension, Aortic regurgitation, Patent ductus arteriosus ORPHA:79094
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Hyperaldosteronism, Familial, Type I
Hypertension, Decreased circulating renin level, Hyperaldosteronism OMIM:103900
Familial Hyperaldosteronism Type Ii
Hypertension, Intracranial hemorrhage, Hypokalemia, Epistaxis, Glucocortocoid-insensitive primary... ORPHA:404
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Decreased serum insulin-like growth factor 1, Hypocholesterolemia,... ORPHA:79324
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension, Abnormal dental enamel morphology ORPHA:757
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Extracranial Carotid Artery Aneurysm
Hypertension, Abnormality of connective tissue, Cerebral ischemia, Vasculitis, Arteritis, Diabete... ORPHA:494424
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Hypertensive crisis, Pulmonary arterial hypertension, ... ORPHA:3287
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Elevated circulating creatinine concentration ORPHA:567544
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Primary Unilateral Adrenal Hyperplasia
Hypertension, Polydipsia, Hypokalemia, Palpitations, Decreased circulating renin level, Epistaxis... ORPHA:231580
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Decreased HDL cholesterol concentration, Insulin-resistant ... OMIM:203800
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Hypokalemia, Decreased circulating renin ... ORPHA:231625
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Hypoalbuminemia ORPHA:84090
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Contractures of the interphalangeal joint of the thumb, Patent ductus ... OMIM:613870
Hyperaldosteronism, Familial, Type Iii
Hypertension, Decreased circulating renin level, Hypokalemia, Polydipsia, Hyperaldosteronism OMIM:613677
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypoglycemia OMIM:201910
Paragangliomas 3
Palpitations, Tachycardia, Episodic paroxysmal anxiety, Elevated circulating catecholamine level,... OMIM:605373
Cushing Disease
Hypertension, Increased urinary cortisol level, Capillary fragility, Suicidal ideation, Increased... ORPHA:96253
Joubert Syndrome 14
Ataxia, Irritability, Hypertension OMIM:614424
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Elevated circulating creatinine concentration, Apathy, Cardiomyopat... ORPHA:247691
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating renin level, Hypokalemia, Polydipsia, Abnormality of circulat... ORPHA:320
Liddle Syndrome 3
Hypertension, Hypokalemia OMIM:618126
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Hypercholesterolemia, Lipoatrophy, H... ORPHA:363618
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Dysmetria, Steppage gait, Abnormal ... ORPHA:14
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Gait disturbance, Hypertension, Steppage gait, Elevated circulating creatine kinase concentration... ORPHA:437572
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus ORPHA:157835
Fanconi Renotubular Syndrome 5
Hypertension, Hypophosphatemia, Glycosuria, Hypophosphatemic rickets OMIM:618913
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Poor eye contact ORPHA:444002
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypertension, Dysphagia, Hyperphosphatemia, Hyponatremia, Hypernatremia, Elevated c... ORPHA:94093
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Ischemic stroke, Decreased response to... ORPHA:280679
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Prolonged QT inter... ORPHA:71212
Paragangliomas 1
Palpitations, Tachycardia, Episodic paroxysmal anxiety, Elevated circulating catecholamine level,... OMIM:168000
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy OMIM:618810
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypertension, Congestive heart failure, Hypophosphatemic rickets OMIM:208000
Congenital Hypothyroidism
Hypertension, Umbilical hernia, Anxiety, Depression, Arrhythmia, Hypotension ORPHA:442
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypertension, Hypocalcemic tetany, Prolonged QT i... ORPHA:79443
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive p... ORPHA:767
Alexander Disease
Gait disturbance, Dysphagia, Hypertension, Self-injurious behavior, Ataxia, Emotional lability, D... ORPHA:58
Werner Syndrome
Hypertension, Chondrocalcinosis, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Te... ORPHA:902
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Increased circulating androstenedione concentra... ORPHA:90795
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:613623
Primary Progressive Freezing Gait
Hypertension, Dysphagia, Gait imbalance, Shuffling gait, Bradykinesia, Difficulty walking ORPHA:75567
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:608406
Porphyria Variegata
Hypertension, Hyponatremia, Scarring, Tachycardia, Anxiety, Abnormal circulating porphyrin concen... ORPHA:79473
Coach Syndrome 2
Hypertension, Elevated circulating creatinine concentration OMIM:619111
Tetanus
Hypertension, Dysphagia, Elevated circulating creatine kinase concentration, Bradycardia, Tachyca... ORPHA:3299
Poliomyelitis
Hypertension, Dysphagia, Hypovolemic shock, Low self esteem, Inability to walk, Irritability, Hyp... ORPHA:2912
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia OMIM:607765
Pituitary Apoplexy
Hypertension, Hyponatremia, Hypoglycemia, Increased circulating cortisol level, Elevated circulat... ORPHA:95613
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Hypertension, Diabetes mellitus ORPHA:69663
Ectopic Aldosterone-Producing Tumor
Hypertension, Decreased circulating renin level, Hypokalemia, Epistaxis, Glucocortocoid-insensiti... ORPHA:231632
Buschke-Ollendorff Syndrome
Hypertension, Atypical scarring of skin, Flexion contracture, Connective tissue nevi ORPHA:1306
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Hypertension, Increased serum insulin-like gro... OMIM:102200
Porphyria
Hypertension, Dupuytren contracture, Abnormal circulating porphyrin concentration ORPHA:738
Aicardi-Goutieres Syndrome 9
Dystonia, Hypertension, Pericarditis, Self-mutilation, Increased blood pressure, Irritability, Hy... OMIM:619487
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Palpitations, Episodic paroxysmal anxiety, Congestive heart f... ORPHA:276621
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:615812
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension OMIM:145260
Livedoid Vasculopathy
Hypertension, Hyperhomocystinemia, Abnormal circulating lipid concentration, Atrophic scars, Tela... ORPHA:542643
Serotonin Syndrome
Hypertension, Tachycardia, Irritability, Anxiety, Hypotension ORPHA:43116
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Gait disturbance, Dysphagia, Hypertrophic cardiomyopathy, Hypertension, Recurrent in... ORPHA:183
Infant Botulism
Hypertension, Dysphagia, Hyponatremia, Cardiac arrest, Hypotension ORPHA:178478
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Hypertension, Increased urinary 11-deoxycorticosterone level,... ORPHA:90793
Generalized Glucocorticoid Resistance Syndrome
Hypertension, Increased urinary cortisol level, Hypoglycemia, Hypokalemia, Increased circulating ... ORPHA:786
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Hypercalcemia, Polyphagia, Abnormal dental enamel morphology, Increased blood urea ... ORPHA:251004
Ethylene Glycol Poisoning
Shock, Hypertension, Hyperkalemia, Prolonged QT interval, Atrial fibrillation, Tachycardia, Eupho... ORPHA:31826
Monosomy 18P
Hypertension, Generalized dystonia ORPHA:1598
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Hypertension, Increased circulating cortisol level, Elevated calcitonin OMIM:171400
Heme Oxygenase 1 Deficiency
Hypertension, Epistaxis, Increased circulating ferritin concentration, Diffuse alveolar hemorrhag... OMIM:614034
Porphyria, Acute Intermittent
Anxiety, Hypertension, Depression, Tachycardia OMIM:176000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Inguinal hernia, Hyperammonemia, Hyperalaninemia, Atax... OMIM:614052
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Mercury Poisoning
Dystonia, Hypertension, Hypokalemia, Tachycardia, Hypotension ORPHA:330021
Arterial Tortuosity Syndrome
Hypertension, Congenital diaphragmatic hernia, Aortic regurgitation, Inguinal hernia, Telangiecta... OMIM:208050
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Generalized lipod... OMIM:616914
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Glycogen Storage Disease Ia
Hypertension, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma OMIM:232200
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Hyperlipidemia, Mitral regurgitation, Abnormal circula... ORPHA:324
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Palpitations, Episodic paroxysmal anxiety, Elevated calcitoni... ORPHA:29072
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... OMIM:264800
Lead Poisoning
Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, D... ORPHA:330015
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Hypocholesterol... ORPHA:90363
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage ORPHA:251992
Schimke Immuno-Osseous Dysplasia
Hypertension, Hyperlipidemia, Pulmonary arterial hypertension, Cerebral ischemia, Transient ische... ORPHA:1830
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Nelson Syndrome
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Type II diabetes mellitu... ORPHA:199244
Senior-Boichis Syndrome
Hypertension, Polydipsia, Suicidal ideation, Aggressive behavior, Increased total bilirubin, Atte... ORPHA:84081
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Telangiectasia of ... ORPHA:758
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... OMIM:171420
Glycogen Storage Disease Ib
Hypertension, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma OMIM:232220
Cushing Syndrome Due To Ectopic Acth Secretion
Hypertension, Increased urinary cortisol level, Capillary fragility, Suicidal ideation, Increased... ORPHA:99889
Methylcobalamin Deficiency Type Cble
Hypertension, Hypomethioninemia, Hyperhomocystinemia, Lethargy ORPHA:2169
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Scorpion Envenomation
Prominent U wave, Myocarditis, Hypertension, Premature ventricular contraction, Hypokalemia, Card... ORPHA:466677
Caudal Regression Sequence
Hypertension, Maternal diabetes, Impulsivity ORPHA:3027
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Hypertension, Elevated circulating C-reactive protein concentration, Pann... OMIM:615688
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Omphalocele, Hypertension, Type I diabetes mellitus ORPHA:371428
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Elevated circulating creatinine concentration, Tachycardia... OMIM:223900
Ochoa Syndrome
Hypertension, Polydipsia ORPHA:2704
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Hypoketotic hypoglycemia, Prolonged QT interval, Ventric... ORPHA:26793
Popov-Chang syndrome
Self-injurious behavior, Hypertension, Pulmonic stenosis OMIM:618428
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Prader-Willi Syndrome
Hypertension, Polyphagia, Decreased response to growth hormone stimulation test, Decreased inhibi... ORPHA:739
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyper... OMIM:235400
Acute Intermittent Porphyria
Hypertension, Hyponatremia, Pseudobulbar paralysis, Tachycardia, Anxiety, Depression ORPHA:79276
Nestor-Guillermo Progeria Syndrome
Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Lipoatrophy, Decreased serum... OMIM:614008
Diffuse Cutaneous Systemic Sclerosis
Dysphagia, Pulmonary arterial hypertension, Hypertensive crisis, Telangiectasia of the skin, Cong... ORPHA:220393
Frasier Syndrome
Hypertension, Decreased serum estradiol, Increased circulating gonadotropin level ORPHA:347
Schimke Immunoosseous Dysplasia
Hypertension, Waddling gait, Transient ischemic attack, Cerebral ischemia OMIM:242900
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Gait disturbance, Hypertension, Scarring, Ataxia, ... ORPHA:90321
Coach Syndrome 1
Dystonia, Portal hypertension, Ataxia, Hypertension OMIM:216360
Glycogen Storage Disease Ic
Spider hemangioma, Hypertension, Hypoglycemia, Hyperlipidemia, Pulmonary arterial hypertension, H... OMIM:232240
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Hypertension, Decreased circulating renin level, Hypokalemia, Pulmonary arterial hyper... OMIM:615474
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypertension, Abnormality of connective tissue, Aortic regurgitation, Patent ductus arteriosus, T... ORPHA:91387
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hypocholesterolemia, Aggressive behavior, Self-mutilation, Patent ... OMIM:270400
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating renin level, Hypokalemia OMIM:218030
Polycythemia Vera
Hypertension, Budd-Chiari syndrome, Epistaxis, Intermittent claudication, Gastrointestinal hemorr... ORPHA:729
Denys-Drash Syndrome
Hypertension ORPHA:220
Bardet-Biedl Syndrome 1
Hypertension, Gait imbalance, Insulin resistance, Ataxia, Diabetes mellitus OMIM:209900
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614495
Atypical Werner Syndrome
Hypertension, Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin lev... ORPHA:79474
Fabry Disease
Hypertension, Myocardial infarction, Transient ischemic attack, Congestive heart failure, Arrhyth... OMIM:301500
Tuberous Sclerosis Complex
Shagreen patch, Hypertension, Self-injurious behavior, Aggressive behavior, Hyperactivity, Impuls... ORPHA:805
Oligomeganephronia
Congenital diaphragmatic hernia, Elevated circulating creatinine concentration, Hypertension, Pol... ORPHA:2260
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Elevated circulating creatinine concentration OMIM:613095
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hypertension, Hypercalcemia, Multiple lipomas, Increased serum serotonin, ... ORPHA:652
Glutaric Aciduria Iii
Hypertension OMIM:231690
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Hypertension, Elevated circulating follicle stimulating hormo... ORPHA:95699
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614496
Aortic Arch Interruption
Shock, Hypertension, Truncus arteriosus, Systolic heart murmur, Aortic regurgitation, Aortopulmon... ORPHA:2299
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Increased circulating androstenedione concentra... OMIM:202010
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Hypoglycemia, Hyperlipidemia, Epistaxis, Hyperuricemia, Hypercholesterolemia, Xanth... ORPHA:79259
Liddle Syndrome 1
Hypertension, Decreased circulating renin level, Hypokalemia OMIM:177200
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentration OMIM:618886
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Hurler Syndrome
Hypertension, Cardiomyopathy, Hernia, Camptodactyly of finger, Depression, Angina pectoris ORPHA:93473
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Palpitations, Cardiomyopathy, Myocardial infarction, Anxiety, Elevated... ORPHA:892
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Telangiectasia of... ORPHA:3342
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Elevated circul... ORPHA:90068
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Acute Interstitial Pneumonia
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... ORPHA:79126
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Hypercalcemia, Palpitations, Hypertensive crisis,... ORPHA:653
Gaucher Disease, Type I
Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Epistaxis, Aortic valve sten... OMIM:230800
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Familial Dysautonomia
Gait disturbance, Hypertension, Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia ORPHA:1764
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Hereditary Amyloidosis With Primary Renal Involvement
Hypertension, Decreased HDL cholesterol concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Telangiectasia, Hypertension, Pulmonary arterial hypertension, Elevate... OMIM:178600
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating cr... ORPHA:90038
Galloway-Mowat Syndrome 3
Hypertension, Hypoalbuminemia, Hiatus hernia, Camptodactyly OMIM:617729
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... ORPHA:99827
Simple Cryoglobulinemia
Hypertension, Pericarditis, Raynaud phenomenon, Myocardial infarction, Gastrointestinal hemorrhag... ORPHA:91139
Marshall-Smith Syndrome
Omphalocele, Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, Umbilical h... OMIM:602535
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hutchinson-Gilford Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Insulin resistance, Absence of subcu... ORPHA:740
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypertension, Type II diabetes mellitus, Prolonged QT interval, Hyperlipidemia, Glucose intoleran... ORPHA:99413
Turner Syndrome
Hypertension, Type II diabetes mellitus, Prolonged QT interval, Hyperlipidemia, Glucose intoleran... ORPHA:881
Mosaic Monosomy X
Hypertension, Type II diabetes mellitus, Prolonged QT interval, Hyperlipidemia, Glucose intoleran... ORPHA:99228
Monosomy X
Hypertension, Type II diabetes mellitus, Prolonged QT interval, Hyperlipidemia, Glucose intoleran... ORPHA:99226
Neuroblastoma, Susceptibility To, 1
Ataxia, Hypertension OMIM:256700
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Mucopolysaccharidosis Type 2
Hypertension, Aggressive behavior, Inguinal hernia, Cardiomyopathy, Hyperactivity, Contractures o... ORPHA:580
Nephroblastoma
Hypertension ORPHA:654
Nephronophthisis 1
Hypertension, Polydipsia OMIM:256100
Spondyloenchondrodysplasia
Hypertension, Decreased response to growth hormone stimulation test, Vasculitis, Raynaud phenomenon ORPHA:1855
Hunter-Macdonald Syndrome
Hypertension, Umbilical hernia, Mitral regurgitation, Aortic regurgitation, Joint contracture of ... OMIM:611962
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Umbilical hernia ORPHA:1555
Homozygous Familial Hypercholesterolemia
Hypertension, Mitral regurgitation, Hyperlipidemia, Supravalvular aortic stenosis, Heart murmur, ... ORPHA:391665
Hemorrhagic Fever-Renal Syndrome
Shock, Hypertension, Hyperphosphatemia, Intracranial hemorrhage, Hyperkalemia, Palpitations, Subc... ORPHA:340
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Dysphagia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Budd-Chiari ... ORPHA:447
Cryoglobulinemia, Familial Mixed
Hypertension, Elevated circulating creatinine concentration OMIM:123550
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Renal Hypoplasia
Hypertension, Polydipsia ORPHA:93101
Cockayne Syndrome A
Gait disturbance, Hypertension, Reduced subcutaneous adipose tissue, Ataxia, Atypical scarring of... OMIM:216400
Acromegaly
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Diabetes mellitus, Elevated circ... ORPHA:963
Somatomammotropinoma
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Diabetes mellitus, Elevated circ... ORPHA:314769
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Classic Homocystinuria
Hypertension, Intracranial hemorrhage, Hernia, Cerebral ischemia, Gastrointestinal hemorrhage, Pu... ORPHA:394
Cockayne Syndrome
Gait disturbance, Hypertension, Retinal hemorrhage, Reduced subcutaneous adipose tissue, Progress... ORPHA:191
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... OMIM:171300
Trichotillomania
Hair-pulling OMIM:613229
Igg4-Related Retroperitoneal Fibrosis
Hypertension, Renovascular hypertension, Budd-Chiari syndrome, Elevated circulating creatinine co... ORPHA:49041
Tsh-Secreting Pituitary Adenoma
Hypertension, Ventricular arrhythmia, Hypokalemia, Palpitations, Decreased circulating ACTH level... ORPHA:91347
Alagille Syndrome
Hypertension, Telangiectasia of the skin ORPHA:52
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Bardet-Biedl Syndrome
Hypertension ORPHA:110
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Portal hypertension OMIM:263200
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... OMIM:600309
Cockayne Syndrome B
Hypertension, Reduced subcutaneous adipose tissue, Ataxia, Atypical scarring of skin, Loss of fac... OMIM:133540
Paragangliomas 4
Palpitations, Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Tachyca... OMIM:115310
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Elevated circulating creatinine concentration, Hypotension, Hyperuricemia OMIM:174000
Williams Syndrome
Gait imbalance, Abnormal dental enamel morphology, Patent ductus arteriosus, Cerebral ischemia, A... ORPHA:904
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Hyponatremia, Hyperkalemia, Hypertensive crisis, Diabetes mellitus, Hy... ORPHA:544482
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Hypertension OMIM:194080
Hardikar Syndrome
Hypertension, Decreased serum insulin-like growth factor 1, Hematemesis, Hyperbilirubinemia, Pate... OMIM:301068
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Posterior Urethral Valve
Hypertension, Lethargy ORPHA:93110
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Hypokalemia, Pulmonary... OMIM:619573
Aorta Coarctation
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, Patent ductus arteriosus ORPHA:1457
Hallermann-Streiff Syndrome
Telangiectasia, Hyperactivity, Hypertension, Pulmonary arterial hypertension OMIM:234100
Xq21 Microdeletion Syndrome
Hypertension, Ataxia, Dysdiadochokinesis, Decreased response to growth hormone stimulation test, ... ORPHA:1435
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Granulomatosis With Polyangiitis
Hypertension, Pericarditis, Epistaxis, Recurrent intrapulmonary hemorrhage, Cerebral ischemia, Ga... ORPHA:900
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Williams-Beuren Syndrome
Hypertension, Hypercalcemia, Gait imbalance, Mitral regurgitation, Supravalvular aortic stenosis,... OMIM:194050
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension OMIM:208060
Alport Syndrome 3, Autosomal Dominant
Hypertension, Azotemia, Hypophosphatemia OMIM:104200
Cranioectodermal Dysplasia 2
Hypertension, Inguinal hernia, Patent ductus arteriosus, Hyperbilirubinemia OMIM:613610
Apert Syndrome
Hypertension ORPHA:87
Myhre Syndrome
Hypertension, Inguinal hernia, Femoral hernia ORPHA:2588
22Q11.2 Deletion Syndrome
Truncus arteriosus, Hypertensive crisis, Abnormal dental enamel morphology, Inguinal hernia, Pate... ORPHA:567
Postinfectious Vasculitis
Hypertension, Vasculitis in the skin, Raynaud phenomenon, Cardiomyopathy, Cerebral vasculitis, El... ORPHA:48435
Alport Syndrome
Hypertension, Dysphagia ORPHA:63
Myhre Syndrome
Hypertension, Patent ductus arteriosus, Ataxia, Camptodactyly, Aortic valve stenosis OMIM:139210
Orofaciodigital Syndrome I
Hypertension, Enamel hypoplasia OMIM:311200
Carney Triad
Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Tachycardia ORPHA:139411
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Elevated circulating creatinine concentration ORPHA:730
Acute Transverse Myelitis
Gait disturbance, Hypertension, Orthostatic hypotension, Decreased circulating copper concentrati... ORPHA:139417
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Inguinal hernia, Cardiomyopathy, Flexion contracture, Camptodactyly of finger, Arrh... ORPHA:217085
Neurofibromatosis Type 1
Ataxia, Attention deficit hyperactivity disorder, Hypertension, Multiple lipomas ORPHA:636
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Inguinal hernia, Cardiomyopathy, Flexion contracture, Camptodactyly of finger, Arrh... ORPHA:217093
Blau Syndrome
Hypertension, Pericarditis, Flexion contracture of toe, Camptodactyly of finger OMIM:186580
Orofaciodigital Syndrome Type 1
Dystonia, Hypertension, Ataxia, Abnormal dental enamel morphology ORPHA:2750
Scalp-Ear-Nipple Syndrome
Hypertension, Type I diabetes mellitus ORPHA:2036
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral hemorrhage, Hypertension, Fingerpad telangiectases, Lip telangiectasia, Ischemic stroke,... OMIM:600376
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Sickle Cell Anemia
Hypertension OMIM:603903
Autosomal Recessive Polycystic Kidney Disease
Hypertension, Hyponatremia, Polydipsia, Gastrointestinal hemorrhage, Increased serum bile acid co... ORPHA:731
Alkaptonuria
Myocardial infarction, Hypertension ORPHA:56
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Scalp-Ear-Nipple Syndrome
Hypertension OMIM:181270
Carney Complex
Hypertension, Increased serum insulin-like growth factor 1, Increased circulating cortisol level,... ORPHA:1359
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis OMIM:108050
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:613834
Alström Syndrome
Dilated cardiomyopathy, Hypertension, Type II diabetes mellitus, Hyperlipidemia, Polyphagia, Insu... ORPHA:64
Renal Agenesis
Hypertension ORPHA:411709
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Familial Bicuspid Aortic Valve
Hypertension, Aortic regurgitation, Aortic valve stenosis, Heart murmur ORPHA:402075
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Adams-Oliver Syndrome 1
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:100300
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Generalized Arterial Calcification Of Infancy
Hypertension, Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Irritabilit... ORPHA:51608
Blau Syndrome
Hypertension, Pericarditis, Pulmonary arterial hypertension, Large vessel vasculitis, Camptodacty... ORPHA:90340
17Q11 Microdeletion Syndrome
Elevated circulating parathyroid hormone level, Hypertension, Hypertrophic cardiomyopathy, Renova... ORPHA:97685
Yunis-Varon Syndrome
Hypertension, Pulmonary arterial hypertension, Cardiomyopathy, Renovascular hypertension ORPHA:3472
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Neurofibromatosis, Type I
Hypertension OMIM:162200
Vascular Ehlers-Danlos Syndrome
Hypertension, Hypokalemia, Renovascular hypertension, Cigarette-paper scars, Telangiectasia of th... ORPHA:286
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions ORPHA:177907
Renal Dysplasia
Hypertension ORPHA:93108
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Dysphagia ORPHA:447997
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Abnormal social behavior ORPHA:363958
Mend Syndrome
Abnormal social behavior ORPHA:401973
Choreoacanthocytosis
Dilated cardiomyopathy, Hair-pulling, Dysphagia ORPHA:2388
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Monosomy 22Q13.3
Hair-pulling ORPHA:48652

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 Crhr2

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 Crhr2.

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

Title Journal IMPC Allele PubMed ID
Corticotropin releasing hormone receptor 2 exacerbates chronic cardiac dysfunction. The Journal of experimental medicine (May 2017) Crhr2tm1c(KOMP)Wtsi Crhr2tm1a(KOMP)Wtsi PMC5502432

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MGI Allele Allele Type Produced
Crhr2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Crhr2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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