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,  CRFR2beta,  Crfr2

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 Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Hypertriglyceridemia, Hypertension, Incr... ORPHA:71529
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hypertension, Loss of gluteal subcutaneous... ORPHA:280356
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction, Diabetes mellitus OMIM:608320
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Congestive heart failure, Increased ... OMIM:615703
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertension, Lipodystrophy, Hypertrigly... OMIM:613877
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Reduced subcutaneou... ORPHA:363400
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Hypertension, Increased C-pepti... OMIM:615238
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hypertension, Lipoatrophy, Diabetes mellitus ORPHA:79084
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... OMIM:615980
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity OMIM:606053
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad... OMIM:615830
Melorheostosis With Osteopoikilosis
Multiple lipomas, Hypertension ORPHA:1879
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension OMIM:618464
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ataxia, Broad-based gait, Emotional lability, Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Gait disturbance, Hypertension OMIM:616779
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Decreased HDL choleste... OMIM:151660
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple lipomas, ... ORPHA:1349
Spastic Paraplegia-Nephritis-Deafness Syndrome
Gait disturbance, Hypertension ORPHA:2820
Methanol Poisoning
Type I diabetes mellitus, Type II diabetes mellitus, Hyperlipidemia, Permanent atrial fibrillatio... ORPHA:31825
Trimethylaminuria
Tachycardia, Depression, Hypertension OMIM:602079
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Depression, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Emotional lability, Hy... ORPHA:136
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
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
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia... OMIM:615954
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus, Lipoatrophy, Abnormal circulating lipid concentration ORPHA:2833
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Pigmented Nodular Adrenocortical Disease, Primary, 1
Depression, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor... OMIM:610489
Morgagni-Stewart-Morel Syndrome
Depression, Hyperuricemia, Hypercholesterolemia, Hypertension, Diabetes mellitus ORPHA:77296
Pigmented Nodular Adrenocortical Disease, Primary, 2
Depression, Increased circulating cortisol level, Decreased circulating ACTH concentration, Prima... OMIM:610475
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol ... ORPHA:189427
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Increased circulating brain natriuret... OMIM:620734
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete... OMIM:618620
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Potocki-Lupski Syndrome
Hypocholesterolemia, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, ST segmen... ORPHA:90065
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Hypertension, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left... OMIM:540000
Coproporphyria, Hereditary
Tachycardia, Depression, Hypertension OMIM:121300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype... ORPHA:3077
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Hypertension OMIM:617027
Squalene Synthase Deficiency
Elbow flexion contracture, Hypocholesterolemia, Knee flexion contracture, Irritability, Decreased... OMIM:618156
Acth-Independent Macronodular Adrenal Hyperplasia
Depression, Increased circulating cortisol level, Decreased circulating ACTH concentration, Prima... OMIM:219080
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Narcolepsy Type 1
Depression, Restless legs, Attention deficit hyperactivity disorder, Syncope, Restlessness, Hyper... ORPHA:2073
Familial Cervical Artery Dissection
Abnormality of connective tissue, Transient ischemic attack, Cerebral ischemia, Subarachnoid hemo... ORPHA:36382
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... ORPHA:439232
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Hypertension, Hypoglycemia OMIM:201910
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Depression, Hypocholesterolemia, Dysmetria, Abetalipoproteinemia, Eleva... ORPHA:96180
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... ORPHA:449291
Overlap Myositis
Abnormal circulating lipid concentration, Abnormality of connective tissue, Difficulty walking, E... ORPHA:206572
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy OMIM:608776
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Gait disturbance, Hypertension ORPHA:1192
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Tachycardia, Flexion contracture, Hypertension, Patent d... OMIM:613870
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Hypertension OMIM:603278
Familial Hyperaldosteronism Type I
Epistaxis, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Intrac... ORPHA:403
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
C3 Glomerulopathy
Elevated circulating creatinine concentration, Lipodystrophy, Hypertension ORPHA:329918
Hypobetalipoproteinemia, Familial, 1
Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol c... OMIM:615558
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Riboflavin Transporter Deficiency
Hypertension, Aggressive behavior, Dysphagia, Ataxia ORPHA:97229
Moyamoya Disease 6 With Or Without Achalasia
Hypertension, Ischemic stroke, Dysphagia, Raynaud phenomenon OMIM:615750
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Decreased adipose tissue around neck, Absence of su... OMIM:606721
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypertension, Hypokalemia OMIM:605635
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity ORPHA:329249
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Increased circulating ACTH level, Glucose intolerance, Emotional ... OMIM:219090
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Congestive heart ... OMIM:617253
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hyperuricemia, Arrhythmia, Ataxia, Hypertension ORPHA:3222
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Autosomal Dominant Dopa-Responsive Dystonia
Depression, Gait ataxia, Progressive flexion contractures, Ataxia, Compulsive behaviors, Bradykin... ORPHA:98808
Pediatric-Onset Graves Disease
Polydipsia, Sinus tachycardia, Congestive heart failure, Palpitations, Emotional lability, Increa... ORPHA:525731
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Polydipsia, Second degree atrioventricular block, Hyperaldosteronism, Hypokalemia, Pul... ORPHA:369929
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Hypokalemia, Prolonged QT interval, Intracranial hemorrhage, Hypertension,... ORPHA:251274
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Ataxia OMIM:266510
Beta-Ketothiolase Deficiency
Hypotension, Hypoglycemia, Anorexia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Oral aversion,... ORPHA:134
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Hypertension, Congenital diaphragmatic hernia OMIM:166300
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus, Restless legs ORPHA:157835
Senior-Loken Syndrome
Hypertension, Ataxia ORPHA:3156
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Hypertension OMIM:616733
Rhabdoid Tumor
Hypertension, Hypercalcemia, Internal hemorrhage, Irritability ORPHA:69077
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Hypertension, Myocardial infarction ORPHA:54370
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension, Reduced circulating... OMIM:611489
Postorgasmic Illness Syndrome
Depression, Hypertension, Palpitations, Irritability ORPHA:279947
Preeclampsia
Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, El... ORPHA:275555
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus ORPHA:79094
Liddle Syndrome
Hypokalemia, Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Cardiomyopathy, Hypocholesterolemia, Dysmetria, Abnormal subcutaneous fat tissue... OMIM:212065
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension ORPHA:181
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Gait imbalance, Restless legs, Hypertension, Bradykinesia, Dy... ORPHA:75567
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Decreased serum insul... ORPHA:79324
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia, Palpitations, Decreased circulating renin level, Hypokalemia, Hypertension... ORPHA:231580
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Sneddon Syndrome
Atrophic scars, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension OMIM:613677
Stiff-Person Syndrome
Hypertension, Tachycardia, Depression, Diabetes mellitus OMIM:184850
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Depression, Gait ataxia, Dysmetria, Hypertension, Gait disturbance, Ataxia, Compulsi... ORPHA:93256
Apparent Mineralocorticoid Excess
Polydipsia, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokal... ORPHA:320
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Hypertension, Decreased circulating renin level OMIM:103900
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Hyperkalemia, Hypertension ORPHA:757
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Wagro Syndrome
Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsive behavi... OMIM:612469
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Fibronectin Glomerulopathy
Hypoalbuminemia, Hypertension, Cerebral hemorrhage ORPHA:84090
Alopecia Universalis
Type I diabetes mellitus, Hypertension, Abnormal circulating lipid concentration ORPHA:701
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Ataxia, Hypertension, ... OMIM:612780
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... ORPHA:231625
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Congestive heart failure, Type II diabetes mellitus, Hyper... ORPHA:902
Familial Hyperaldosteronism Type Ii
Epistaxis, Hypokalemia, Intracranial hemorrhage, Hypertension, Glucocortocoid-insensitive primary... ORPHA:404
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Abnormality of connective tissue, Cerebral ischemia, Hypertension, Subarac... ORPHA:494424
Abetalipoproteinemia
Hypoalbuminemia, Broad-based gait, Hypotriglyceridemia, Decreased HDL cholesterol concentration, ... ORPHA:14
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Difficulty walking, Abnorm... ORPHA:100924
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Infant Botulism
Hypotension, Hyponatremia, Hypertension, Anorexia, Cardiac arrest, Dysphagia ORPHA:178478
Alexander Disease
Self-injurious behavior, Hypotension, Depression, Emotional lability, Hypertension, Gait disturba... ORPHA:58
Tetanus
Elevated circulating creatine kinase concentration, Dysphagia, Bradycardia, Tachycardia, Hyperten... ORPHA:3299
Lead Poisoning
Depression, Decreased HDL cholesterol concentration, Decreased circulating osteocalcin level, Inc... ORPHA:330015
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypertension, Hypercholest... ORPHA:363618
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Hypertension, Glycosuria OMIM:618913
Cushing Disease
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Increased cir... ORPHA:96253
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Poliomyelitis
Hypovolemic shock, Hypotension, Inability to walk, Irritability, Hypertension, Anorexia, Dysphagi... ORPHA:2912
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a... OMIM:615474
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension OMIM:619111
Gaisböck Syndrome
Elevated diastolic blood pressure, Hyperuricemia, Hypertension, Hypovolemia, Angina pectoris, Hyp... ORPHA:90041
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Increased urinary 11-deoxycorticostero... ORPHA:90795
Mercury Poisoning
Hypotension, Hypokalemia, Anorexia, Tachycardia, Hypertension ORPHA:330021
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Serotonin Syndrome
Hypotension, Irritability, Tachycardia, Restlessness, Hypertension, Agitation ORPHA:43116
Polyarteritis Nodosa
Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Hypert... ORPHA:767
Amyloidosis, Hereditary Systemic 2
Hypertension OMIM:105200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Depression, Cardiomyopathy, Elevated circulating creatinine concentr... ORPHA:247691
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Hypocalcemia, Addictive alcohol use, Euphoria, Prol... ORPHA:31826
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt... OMIM:300845
Neuroblastoma
Elevated circulating catecholamine level, Increased circulating ferritin concentration, Antalgic ... ORPHA:635
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Hypertension, Polyphagia, Increased blood urea nitrogen, Hyper... ORPHA:251004
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation OMIM:301080
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H... ORPHA:466677
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Hypokalemia, Hypertension, Glucocortocoid-insensiti... ORPHA:231632
Pituitary Adenoma 1, Multiple Types
Increased circulating insulin-like growth factor 1 concentration, Hypertension, Elevated circulat... OMIM:102200
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Congestive heart fa... ORPHA:183
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Second degree atrioventricular block, Pulmonary arterial hypertension, Hypertens... OMIM:617021
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Portal hypertension, Raynaud phenom... OMIM:615688
Ochoa Syndrome
Hypertension, Polydipsia ORPHA:2704
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension OMIM:145260
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Fasting hypoglycemia, Hypertension OMIM:232200
Pituitary Apoplexy
Hypotension, Increased circulating cortisol level, Hypoglycemia, Hyponatremia, Elevated circulati... ORPHA:95613
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetan... ORPHA:79443
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Hypocalc... ORPHA:94093
Methylcobalamin Deficiency Type Cble
Lethargy, Hypertension, Hyperhomocystinemia, Hypomethioninemia ORPHA:2169
Livedoid Vasculopathy
Abnormal circulating lipid concentration, Atrophic scars, Ischemic stroke, Hypertension, Telangie... ORPHA:542643
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, D... ORPHA:90793
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Irritability, Ataxia OMIM:614424
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Fabry Disease
Atrioventricular block, Depression, Abnormal circulating lipid concentration, Congestive heart fa... ORPHA:324
Multiple Endocrine Neoplasia, Type Iia
Elevated circulating calcitonin concentration, Palpitations, Hypertension, Increased circulating ... OMIM:171400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Umbilical hernia, Hypertrophic cardiomyopathy, Hyperammonemia, Inguinal hernia, Arrhythmia, Hyper... OMIM:614052
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen,... OMIM:223900
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased circulating cortisol level, Hypoglycem... ORPHA:786
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Portal hypertension, Self-mutilation, Irritability, Hypertension, Increased bloo... OMIM:619487
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Marfanoid-Progeroid-Lipodystrophy Syndrome
Generalized lipodystrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hype... OMIM:616914
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re... ORPHA:90363
Birk-Landau-Perez Syndrome
Difficulty walking, Limb ataxia, Increased circulating creatine kinase MB isoform, Hyperkalemia, ... OMIM:617595
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Multiple lipomas, Telan... ORPHA:758
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Increased circulating ferritin concentration, Elevated ci... OMIM:614034
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Elevated circul... ORPHA:90068
Renal Hypoplasia, Bilateral
Glycosuria, Hyponatremia, Lethargy, Hyperkalemia, Hypertension ORPHA:97362
Caudal Regression Syndrome
Hypertension, Maternal diabetes, Impulsivity ORPHA:3027
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Hypertension, Pulmonary arter... OMIM:614008
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Hyperlipidemia, Cerebral is... ORPHA:1830
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Congestive heart failure, Pulmonary arterial hypertension, Telangiectasia of... ORPHA:220393
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficiency OMIM:602088
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Hypertension, Omphalocele, Atrioventricular block ORPHA:371428
Xfe Progeroid Syndrome
Hypoalbuminemia, Corneal scarring, Absence of subcutaneous fat, Enamel hypoplasia, Hypertension OMIM:610965
Nelson Syndrome
Increased circulating cortisol level, Increased urinary cortisol level, Type II diabetes mellitus... ORPHA:199244
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Developmental And Epileptic Encephalopathy 111
Sinus tachycardia, Umbilical hernia, Inguinal hernia, Premature ventricular contraction, Hyperten... OMIM:620504
Alstrom Syndrome
Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure, Hyperglyce... OMIM:203800
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia, Scarring, Tachycardia, Hypertension ORPHA:79473
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Cockayne Syndrome Type 1
Foot joint contracture, Difficulty walking, Scarring, Gait disturbance, Enamel hypoplasia, Increa... ORPHA:90321
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia, Hyperactivity OMIM:223370
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Melena, Depression, Increased circulating cortisol level, Shortened QT... ORPHA:652
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage ORPHA:231160
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Transient ischemic attack, Cerebr... OMIM:242900
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Increased cir... ORPHA:99889
Cirrhosis, Familial
Increased level of propylene glycol in blood, Lethargy, Pulmonary arterial hypertension, Hyperten... OMIM:215600
Monosomy 18P
Hypertension ORPHA:1598
Nephronophthisis 18
Hypertension OMIM:615862
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea... OMIM:235400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Elevated circulating catecholamine level, Hypertension associated with pheochromocyt... OMIM:605373
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypertrophic cardiomyopathy, Hypocholesterolemia, Elevated circulating 7-dehydro... OMIM:270400
Atypical Werner Syndrome
Aortic valve stenosis, Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fastin... ORPHA:79474
Glycogen Storage Disease Ib
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypertension OMIM:232220
Prader-Willi Syndrome
Decreased circulating gonadotropin concentration, Decreased circulating inhibin B concentration, ... ORPHA:739
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension, Umbilical hernia OMIM:619758
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Oligomeganephronia
Hypertension, Elevated circulating creatinine concentration, Polydipsia, Congenital diaphragmatic... ORPHA:2260
Frasier Syndrome
Increased circulating gonadotropin level, Decreased serum estradiol, Hypertension ORPHA:347
Porphyria, Acute Intermittent
Tachycardia, Depression, Hypertension OMIM:176000
Hurler Syndrome
Depression, Cardiomyopathy, Camptodactyly of finger, Hernia, Angina pectoris, Hypertension ORPHA:93473
Acute Intermittent Porphyria
Depression, Pseudobulbar paralysis, Hyponatremia, Tachycardia, Restlessness, Hypertension ORPHA:79276
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Abnormality of connective tissue, Transient ischemic attack, Ischemic strok... ORPHA:91387
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:218030
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Umbilical hernia, Ischemic stroke, Inguinal hernia, ... OMIM:208050
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618126
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Glycogen Storage Disease Ic
Spider hemangioma, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Pulmonary arterial h... OMIM:232240
Coach Syndrome 1
Hypertension, Portal hypertension, Ataxia OMIM:216360
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Inguinal hernia, Shortened PR interval, Wolff-Parkinson-White syndrome, Unsteady gait, Hy... OMIM:614947
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypertension, M... OMIM:301500
Liddle Syndrome 1
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:177200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Hernia, Anorexia, Intracrania... ORPHA:394
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Elevated circulating catecholamine level, Hypertension associated with pheochromocyt... OMIM:168000
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Inguinal hernia, H... ORPHA:3342
Senior-Boichis Syndrome
Polydipsia, Increased total bilirubin, Portal hypertension, Aggressive behavior, Attention defici... ORPHA:84081
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hypoglycemia, Xanthelasma, Hyperlipidemia, Pulmonary venous hypertension, Hyperuricemi... ORPHA:79259
Denys-Drash Syndrome
Hypertension ORPHA:220
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Hypertension, Elevated circulating al... OMIM:613095
Crimean-Congo Hemorrhagic Fever
Emotional lability, Anorexia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemo... ORPHA:99827
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentration OMIM:618886
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Elevated circulatin... ORPHA:340
Glutaric Aciduria Iii
Hypertension OMIM:231690
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large vessel vasculitis, Inc... ORPHA:49041
Familial Dysautonomia
Hyponatremia, Gait disturbance, Orthostatic hypotension, Ataxia, Tachycardia, Hypertension ORPHA:1764
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Nephronophthisis 1
Hypertension, Polydipsia OMIM:256100
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased circulating renin level, Hypokalem... OMIM:202010
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Elevated circulating creatinine concentrat... ORPHA:85450
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Hypocalcemia, Hyponatremia, Hypokalemia, Hypertension, Calcinosis, Dysphagia OMIM:617913
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Bardet-Biedl Syndrome 1
Insulin resistance, Gait imbalance, Ataxia, Hypertension, Diabetes mellitus OMIM:209900
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension OMIM:614653
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612926
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga... ORPHA:90038
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hypertension OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612924
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hypertension, Hyperlipidemia, Pulmonary embolism ORPHA:567546
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Contractures of the large joints, Cardiomyopathy, Umbilical hernia, Opp... ORPHA:580
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612925
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome, R... ORPHA:447
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Umbilical hernia ORPHA:1555
Galloway-Mowat Syndrome 3
Camptodactyly, Hiatus hernia, Hypertension, Hypoalbuminemia OMIM:617729
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Renal Hypoplasia
Hypertension, Polydipsia ORPHA:93101
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Aortic valve stenosis, Shuffling gait, Aortic regurgitation, Left ventricular... ORPHA:740
Neuroblastoma, Susceptibility To, 1
Hypertension, Ataxia OMIM:256700
Nephroblastoma
Hypertension ORPHA:654
Carney Triad
Gastrointestinal hemorrhage, Arrhythmia, Anorexia, Tachycardia, Hypertension ORPHA:139411
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Raynaud phenomenon, Hypertensi... ORPHA:91139
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Hyperammonemia, Inguinal hernia, Dysmet... OMIM:220111
Cockayne Syndrome
Congenital contracture, Contractures of the large joints, Difficulty walking, Inability to walk, ... ORPHA:191
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Hypertension, Myocard... OMIM:208000
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Hunter-Macdonald Syndrome
Aortic regurgitation, Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Mitral re... OMIM:611962
Bardet-Biedl Syndrome
Insulin resistance, Ataxia, Depression, Cardiomyopathy, Decreased HDL cholesterol concentration, ... ORPHA:110
Cockayne Syndrome A
Atypical scarring of skin, Loss of facial adipose tissue, Reduced subcutaneous adipose tissue, Hi... OMIM:216400
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hyperactivity, Hypertension, Choreoathetosis OMIM:234100
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hypotension, Hypertension, Hyperuricemia OMIM:174000
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Hardikar Syndrome
Umbilical hernia, Hyperbilirubinemia, Portal hypertension, Irritability, Decreased serum insulin-... OMIM:301068
Alagille Syndrome
Telangiectasia of the skin, Hypertension ORPHA:52
Postinfectious Vasculitis
Cerebral vasculitis, Elevated haptoglobin level, Cardiomyopathy, Ischemic stroke, Abnormal circul... ORPHA:48435
Williams Syndrome
Type II diabetes mellitus, Mitral regurgitation, Overfriendliness, Ataxia, Patent ductus arterios... ORPHA:904
Tsh-Secreting Pituitary Adenoma
Hypotension, Elevated circulating thyroid-stimulating hormone concentration, Congestive heart fai... ORPHA:91347
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Increased circulating ferritin concentration, Hypertrophic cardiomyopat... OMIM:615846
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Cockayne Syndrome B
Atypical scarring of skin, Loss of facial adipose tissue, Reduced subcutaneous adipose tissue, Ar... OMIM:133540
Spondyloenchondrodysplasia
Vasculitis, Hypertension, Raynaud phenomenon ORPHA:1855
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Patent ductus arteriosus, Congestive heart failure ORPHA:1457
Marshall-Smith Syndrome
Umbilical hernia, Premature ventricular contraction, Pulmonary arterial hypertension, Omphalocele... OMIM:602535
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... OMIM:201750
Turner Syndrome Due To Structural X Chromosome Anomalies
Atypical scarring of skin, Depression, Hyperinsulinemia, Glucose intolerance, Type II diabetes me... ORPHA:99413
Turner Syndrome
Atypical scarring of skin, Depression, Hyperinsulinemia, Glucose intolerance, Type II diabetes me... ORPHA:881
Mosaic Monosomy X
Atypical scarring of skin, Depression, Hyperinsulinemia, Glucose intolerance, Type II diabetes me... ORPHA:99228
Monosomy X
Atypical scarring of skin, Depression, Hyperinsulinemia, Glucose intolerance, Type II diabetes me... ORPHA:99226
Posterior Urethral Valve
Lethargy, Hypertension ORPHA:93110
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Hypokalemia, Pulmonary arterial hype... OMIM:619573
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypocalcemia, Hyponatremia, Hypertension, Myocarditis, Hyperkalemia, Diabete... ORPHA:544482
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, ... ORPHA:892
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Elevated circulating parathyroid hormone level, Palpitations, Reduced subcut... ORPHA:653
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hypertension OMIM:120330
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Alport Syndrome
Hypertension, Dysphagia ORPHA:63
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension, Patent ductus arteriosus OMIM:613834
Acromegaly
Depression, Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension, Elevated circulating... ORPHA:963
Somatomammotropinoma
Depression, Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension, Elevated circulating... ORPHA:314769
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Supravalvular aort... ORPHA:391665
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Multiple lipomas, Hypertension, Congestive heart failure OMIM:181270
Alport Syndrome 3A, Autosomal Dominant
Hypertension, Hypophosphatemia, Azotemia OMIM:104200
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Apert Syndrome
Hypertension ORPHA:87
Arima Syndrome
Hypertension, Polydipsia, Ataxia OMIM:243910
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction OMIM:208060
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Dysphagia, Hyperactivity, Hair-pulling ORPHA:447997
Myhre Syndrome
Femoral hernia, Hypertension, Inguinal hernia ORPHA:2588
Xq21 Microdeletion Syndrome
Hypertension, Gait ataxia, Dysdiadochokinesis, Ataxia ORPHA:1435
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Portal hypertension, Hematemesis OMIM:263200
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Dilated cardiomyopathy, Head-banging, Bruxism, Hair-pulling... ORPHA:2388
Myhre Syndrome
Aortic valve stenosis, Ataxia, Camptodactyly, Hypertension, Patent ductus arteriosus OMIM:139210
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Denys-Drash Syndrome
Hypertension, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Cranioectodermal Dysplasia 2
Patent ductus arteriosus, Hyperbilirubinemia, Hypertension, Inguinal hernia OMIM:613610
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Hypertension ORPHA:730
Au-Kline Syndrome
Attention deficit hyperactivity disorder, Hypertension OMIM:616580
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Arrhythmia, Heart mur... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Arrhythmia, Heart mur... ORPHA:217093
Williams-Beuren Syndrome
Umbilical hernia, Gait imbalance, Glucose intolerance, Inguinal hernia, Obsessive-compulsive trai... OMIM:194050
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ataxia, Hypertension, Umbilical hernia OMIM:266920
Systemic Lupus Erythematosus
Depression, Hypertension, Raynaud phenomenon, Anorexia ORPHA:536
Acute Transverse Myelitis
Subarachnoid hemorrhage, Gait disturbance, Orthostatic hypotension, Decreased circulating copper ... ORPHA:139417
Neurofibromatosis Type 1
Attention deficit hyperactivity disorder, Multiple lipomas, Hypertension, Ataxia ORPHA:636
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Depression, Umbilical hernia, Abnormal dental e... ORPHA:567
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Hypertension ORPHA:2036
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Aortic valve stenosis, Keloids, Abnormal fear-induced behavior, Emotiona... ORPHA:353281
Orofaciodigital Syndrome Type 1
Abnormal dental enamel morphology, Hypertension, Ataxia ORPHA:2750
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Polydipsia, Portal hypertension, Increased serum bile acid concentra... ORPHA:731
Blau Syndrome
Pericarditis, Hypertension, Camptodactyly of finger, Flexion contracture of toe OMIM:186580
Orofaciodigital Syndrome I
Hypertension, Enamel hypoplasia OMIM:311200
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Carney Complex
Increased circulating cortisol level, Congestive heart failure, Dorsocervical fat pad, Elevated c... ORPHA:1359
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Sickle Cell Disease
Hypertension OMIM:603903
Alström Syndrome
Ataxia, Insulin resistance, Abnormal coronary artery physiology, Dilated cardiomyopathy, Elevated... ORPHA:64
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hair-pulling, Polyphagia, Attention deficit hyperacti... OMIM:620330
Renal Agenesis
Hypertension ORPHA:411709
Alkaptonuria
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Hypertension, Myocardial infarction ORPHA:56
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Elbow flexion contracture, Hyperbilirubinemia, Knee flexion contrac... OMIM:210710
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Neonatal hyperbilirubinemia, Enamel hypoplasia OMIM:300896
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Aortic valve stenosis, Keloids, Abnormal fear-induced behavior, Corneal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Aortic valve stenosis, Keloids, Abnormal fear-induced behavior, Corneal ... ORPHA:353277
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension ORPHA:402075
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Pierson Syndrome
Retinal hemorrhage, Hypoproteinemia, Hypertension OMIM:609049
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Blau Syndrome
Camptodactyly of finger, Large vessel vasculitis, Pulmonary arterial hypertension, Hypertension, ... ORPHA:90340
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Left ventricular systolic dysfunction, Hypophosphatemic rickets, Weak ... ORPHA:51608
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Renovascular hypertension, Hypertension, Cardiomyopathy ORPHA:3472
Adams-Oliver Syndrome 1
Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis OMIM:100300
Monosomy 22Q13.3
Bruxism, Hyperactivity, Hair-pulling ORPHA:48652
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Reduced social reciprocity ORPHA:177907
17Q11 Microdeletion Syndrome
Elevated circulating parathyroid hormone level, Hypertrophic cardiomyopathy, Pulmonary arterial h... ORPHA:97685
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Neurofibromatosis, Type I
Hypertension OMIM:162200
Vascular Ehlers-Danlos Syndrome
Cigarette-paper scars, Umbilical hernia, Transient ischemic attack, Cystocele, Inguinal hernia, U... ORPHA:286
Renal Dysplasia
Hypertension ORPHA:93108
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Umbilical hernia, Corneal neovascularization, Inguinal hernia, Omphalocele, Hypertension OMIM:308205
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Multicystic Dysplastic Kidney
Hypertension ORPHA:1851
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363958
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Mend Syndrome
Abnormal social behavior ORPHA:401973
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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