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Gene: Oxt MGI:97453

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
oxytocin
Synonyms:
Oxy

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Oxt 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 Oxt by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Postural tremor, Reduced social reciprocity, Torticollis OMIM:611092
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Excessive shyness OMIM:618221
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity OMIM:618103
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
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
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity OMIM:606053
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Polyphagia, Attention deficit hy... ORPHA:369873
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Autism, Susceptibility To, 8
Impaired ability to form peer relationships OMIM:607373
Autism
Impaired ability to form peer relationships OMIM:209850
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Inappropriate behavior, Tremor, Cognitive impairment, Dystonia ORPHA:401901
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Reduced social reciprocity OMIM:608636
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Oculogyric crisis, Increased circulating prolactin concentration, Tremor, Irritabili... ORPHA:35708
Nipah Virus Disease
Hypotension, Tremor, Anorexia ORPHA:99825
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Dystonia, Reduced social reciprocity OMIM:617820
Multiple System Atrophy, Cerebellar Type
Orthostatic syncope, Neuromuscular dysphagia, Depression, Resting tremor, Autonomic bladder dysfu... ORPHA:227510
Perry Syndrome
Hypotension, Depression, Tremor ORPHA:178509
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity ORPHA:329249
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypop... ORPHA:449285
Serotonin Syndrome
Hypotension, Abnormality of the autonomic nervous system, Tremor, Irritability, Hyperhidrosis, Ta... ORPHA:43116
Multiple System Atrophy, Parkinsonian Type
Orthostatic syncope, Depression, Resting tremor, Autonomic bladder dysfunction, Postural tremor, ... ORPHA:98933
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Reduced social reciprocity ORPHA:397933
Kleine-Levin Syndrome
Depression, Polydipsia, Abnormal eating behavior, Sweet craving, Irritability, Polyphagia, Repeti... ORPHA:33543
Autosomal Dominant Epilepsy With Auditory Features
Depression, Abnormal autonomic nervous system physiology, Impulsivity ORPHA:101046
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, T... OMIM:608643
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Depression, Restless legs, Orthostatic hypotension OMIM:616710
Hsd10 Disease
Abnormal social behavior, Short attention span, Choreoathetosis, Tremor ORPHA:391417
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Tremor, Aggressive behavior, Dysphagia, Abnormal autonomic ner... ORPHA:97229
Caribbean Parkinsonism
Autonomic bladder dysfunction, Action tremor, Orthostatic hypotension, Abnormal autonomic nervous... ORPHA:97355
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Intention tremor, Reduced social reciprocity ORPHA:137831
Mitchell Syndrome
Dysphagia, Abnormal autonomic nervous system physiology OMIM:618960
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Tremor, Aggressive behavior, Abnormal autonomic nervous system physiology, Dystonia ORPHA:329284
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Depression, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hypotension due to... OMIM:169500
Multiple System Atrophy
Orthostatic syncope, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Axial dyston... ORPHA:102
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:615548
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Short attention span, Abnormal social behavior ORPHA:444002
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Depression, Hypertension, Hypothyroidism, Abnormal autonomic nervous system physiolo... ORPHA:93256
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... ORPHA:91354
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Nail dystrophy, Self-mutilation, Emotional la... OMIM:256800
Mercury Poisoning
Hypotension, Tremor, Anorexia, Tachycardia, Dystonia, Hypertension ORPHA:330021
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Meningococcal Meningitis
Hypotension, Shock, Irritability, Papilledema, Anorexia ORPHA:33475
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Bronchial Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Increased circulating cortisol level, ... ORPHA:97287
Tetanus
Autonomic bladder dysfunction, Tremor, Opisthotonus, Dysphagia, Abnormal autonomic nervous system... ORPHA:3299
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Tremor, Hyperhidrosis, Abnormal autonomic nervous system physiology, Dystonia OMIM:618049
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Infant Botulism
Hypotension, Xerostomia, Dysphagia, Anorexia, Cardiac arrest, Hypertension ORPHA:178478
Post-Traumatic Pituitary Deficiency
Hypotension, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased... ORPHA:95619
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Hypotension, Elevated serum 11-deoxycortisol, Orthostati... ORPHA:556037
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Dementia, Semantic dementia, Abnormal social behavior ORPHA:1020
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Bruxism, Inappropriate laughter, Tremor, Stereotypical... ORPHA:3095
Pure Autonomic Failure
Syncope, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anhidrosis ORPHA:441
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Polydipsia, Depression, Hypothyroidism, Anorexia, Myoca... ORPHA:3452
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Tachycardia, Hypertension, A... OMIM:613870
Pediatric-Onset Graves Disease
Graves disease, Sinus tachycardia, Polydipsia, Congestive heart failure, Goiter, Palpitations, Em... ORPHA:525731
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Epilepsy, Familial Focal, With Variable Foci 4
Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology OMIM:617935
Alexander Disease
Self-injurious behavior, Hypotension, Depression, Emotional lability, Tremor, Hypothyroidism, Fac... ORPHA:58
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Action tremor, Tremor, Reduced social reciprocity, Dystonia OMIM:619738
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Hypotension, Elevated serum 11-deoxycortisol, Orthostati... ORPHA:556030
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitations, Facial t... ORPHA:100080
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Irritability, Premature ventricular contract... OMIM:212138
Attrv30M Amyloidosis
Atrioventricular block, Abnormal autonomic nervous system physiology, Cardiomyopathy, Arrhythmia ORPHA:85447
Hydroxykynureninuria
Tachycardia, Hypotension, Motor stereotypy ORPHA:79155
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitat... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitat... ORPHA:100082
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Foxg1 Syndrome
Reduced social reciprocity, Cognitive impairment, Dystonia, Paroxysmal bursts of laughter, Choreo... ORPHA:561854
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Cerebral vasculitis, Goiter, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomi... ORPHA:83601
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Erythermalgia, Primary
Palpitations, Xerostomia, Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:133020
Poliomyelitis
Hypovolemic shock, Hypotension, Abnormal motor nerve conduction velocity, Irritability, Dysphagia... ORPHA:2912
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability ORPHA:30925
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... ORPHA:330001
Scrub Typhus
Myocarditis, Hypotension, Hyperhidrosis, Tremor ORPHA:83317
Analbuminemia
Hypotension OMIM:616000
Familial Hyperaldosteronism Type I
Epistaxis, Polydipsia, Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism... ORPHA:403
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Oculogyric crisis, Pulmonary embolism, Tremor, Arrhythmia, Hype... ORPHA:94093
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hypotension, Pseudohypoaldosteronism OMIM:264350
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension, Pancreatitis ORPHA:70578
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypotension, Hypertension OMIM:611489
Cocaine Intoxication
Mania, Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Tremor, ... ORPHA:90068
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Hypotension, Hypertrophic cardiomyopathy, Adrenal insufficiency, Congenita... ORPHA:361
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Late-Onset Isolated Acth Deficiency
Hypotension, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrenal insufficien... ORPHA:199299
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Legionnaires Disease
Hypotension, Arrhythmia, Pancreatitis, Anorexia, Myocarditis, Pericarditis ORPHA:549
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Emotional lability, Dystonia, Hyperact... ORPHA:35069
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Short attention span, Reduced social reciprocity, Tremor, Cogn... ORPHA:2828
X-Linked Intellectual Disability, Van Esch Type
Increased circulating gonadotropin level, Attention deficit hyperactivity disorder, Reduced socia... ORPHA:163976
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Hypotension OMIM:203400
Inhalational Anthrax
Abnormal sweat gland morphology, Hypotension, Internal hemorrhage ORPHA:247257
Autosomal Dominant Hypocalcemia
Optic atrophy, Alopecia, Hypotension, Depression, Congestive heart failure, Emotional lability, A... ORPHA:428
Parkinson Disease, Late-Onset
Depression, Resting tremor, Tremor, Abnormal autonomic nervous system physiology, Dystonia, Dysph... OMIM:168600
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hypotension, Adrenocorticotropin deficient adrenal insuffic... ORPHA:199296
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hypotension OMIM:620125
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hypotension, Pseudohypoaldosteronism OMIM:177735
Familial Hypoaldosteronism
Hypotension, Adrenal insufficiency, Decreased circulating aldosterone level, Orthostatic hypotens... ORPHA:427
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Oral-pharyngeal dysphagia, Thin eyebrow, Cardiac conduction abno... ORPHA:2131
Acute Adrenal Insufficiency
Hypotension, Primary adrenal insufficiency, Sparse axillary hair, Decreased circulating cortisol ... ORPHA:95409
Aa Amyloidosis
Adrenal insufficiency, Hypotension, Hypothyroidism ORPHA:85445
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Adrenal hyperplasia, Prolonged QT interval, Intracranial hemorrhage, Hyper... ORPHA:251274
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Addictive alcohol use, Prolonged QT interval, Eupho... ORPHA:31826
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Dystonia, Agitation OMIM:617903
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Anorexia ORPHA:98850
Central Diabetes Insipidus
Depression, Polydipsia, Anorexia ORPHA:178029
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Anorexia, Pal... ORPHA:100075
Beta-Ketothiolase Deficiency
Hypotension, Oral aversion, Anorexia, Hypertension, Agitation ORPHA:134
Autism, Susceptibility To, 3
Impaired ability to form peer relationships OMIM:608049
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Cryptorchidism, Abnormal autonomic nervous system physiology ORPHA:168593
Neurodegeneration With Brain Iron Accumulation 5
Aggressive behavior, Dystonia, Abnormal autonomic nervous system physiology, Tremor OMIM:300894
Posttransplant Acute Limbic Encephalitis
Dystonia, Depression, Abnormal autonomic nervous system physiology ORPHA:163921
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Emotional lability, Dystonia, Intent... ORPHA:309263
Brain-Lung-Thyroid Syndrome
Congenital hypothyroidism, Abnormal eating behavior, Intention tremor, Compulsive behaviors, Abno... ORPHA:209905
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory tachycardia, Abno... ORPHA:85443
Staphylococcal Necrotizing Pneumonia
Shock, Addictive alcohol use, Hypotension ORPHA:36238
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypohidrosis, A... OMIM:301500
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Hypotension, Adrenocorticotropin deficient adrenal insuffici... ORPHA:91349
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity OMIM:616083
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Irritability, Arrhythmia, Ventricular tachycardia ORPHA:159
Fatal Familial Insomnia
Dysphagia, Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:600072
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Metachromatic Leukodystrophy, Adult Form
Depression, Memory impairment, Progressive psychomotor deterioration, Short attention span, Emoti... ORPHA:309271
Crimean-Congo Hemorrhagic Fever
Emotional lability, Anorexia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Adre... ORPHA:99827
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Polydipsia, Hyperaldosteronism, Adrenal hyperpla... ORPHA:369929
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Intellectual Developmental Disorder, Autosomal Dominant 56
Short attention span, Reduced social reciprocity, Attention deficit hyperactivity disorder, Dysto... OMIM:617854
Lujo Hemorrhagic Fever
Hypotension, Resting tremor, Shock, Hyperhidrosis, Bradycardia, Myocarditis, Subconjunctival hemo... ORPHA:319213
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Abnormal salivary gland morphology, Abnormal autonomi... ORPHA:314652
Familial Cold Urticaria
Polydipsia, Hyperhidrosis ORPHA:47045
Inherited Creutzfeldt-Jakob Disease
Depression, Emotional lability, Tremor, Irritability, Abnormal autonomic nervous system physiolog... ORPHA:282166
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Dengue Fever
Hypotension, Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage ORPHA:99828
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... ORPHA:95613
Ochoa Syndrome
Polydipsia, Hypertension, Cryptorchidism ORPHA:2704
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Depression, Short attention span, Reduced social reciprocity, Irritability, Attention deficit hyp... ORPHA:449291
Gitelman Syndrome
Hypotension, Polydipsia, Palpitations, Salt craving, Ventricular tachycardia, Prolonged QT interval OMIM:263800
Syngap1-Related Developmental And Epileptic Encephalopathy
Reduced social reciprocity, Tremor ORPHA:544254
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia, Palpitations, Adrenal hyperplasia, Hypertension, Glucocortocoid-insensitiv... ORPHA:231580
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Resting tremor, Tremor, Reduced social reciprocity, Cognitive impairment, Dystonia OMIM:615157
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Hypohidrosis, Abnormal autonomic nervous system physiology, A... OMIM:243000
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Polydipsia, Hypertension, Adrenal hyperplasia OMIM:613677
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Congenital Enterovirus Infection
Myocarditis, Hypotension, Cardiomyopathy, Irritability ORPHA:292
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Primary hypercortisolism, Adrenocorticotropic hormone excess, Anorexia... ORPHA:100079
Nmda Receptor Encephalitis
Mania, Testicular teratoma, Ovarian teratoma, Oculogyric crisis, Depression, Orthostatic tachycar... ORPHA:217253
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Panhypophysitis
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Polydip... ORPHA:95513
Hennekam-Beemer Syndrome
Optic atrophy, Hypotension, Irritability, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Addison Disease
Hypotension, Primary adrenal insufficiency, Hashimoto thyroiditis, Sparse axillary hair, Decrease... ORPHA:85138
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction, Postural tremor, Dystonia, Dysphagia, Intention tremor ORPHA:447896
Trichotillomania
Compulsive behaviors, Alopecia, Hair-pulling OMIM:613229
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating... OMIM:231550
Pde4D Haploinsufficiency Syndrome
Hypotension, Cryptorchidism ORPHA:439822
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Agitation, Hematemesis, ... ORPHA:340
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Pitt-Hopkins-Like Syndrome 1
Attention deficit hyperactivity disorder, Progressive language deterioration, Reduced social reci... OMIM:610042
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Anorexia, Cardiac arrest, Acute pancreatitis ORPHA:20
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Myoclonic-Astatic Epilepsy
Attention deficit hyperactivity disorder, Abnormal emotion, Reduced social reciprocity, Tremor ORPHA:1942
Choreoacanthocytosis
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Lingual dystonia, Dysphagia, Soc... ORPHA:2388
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Congenital adrenal hyperplasia, Decreased testicular size, Cryptorchidism, Hirsutism... ORPHA:90791
Multiple System Atrophy 1, Susceptibility To
Tremor, Hypohidrosis, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anhi... OMIM:146500
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Colchicine Poisoning
Hypotension, Cardiogenic shock, Alopecia, Congestive heart failure, Arrhythmia, Myocarditis, Hypo... ORPHA:31824
Prolactinoma
Secondary growth hormone deficiency, Hypotension, Adrenocorticotropin deficient adrenal insuffici... ORPHA:2965
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, ... ORPHA:247234
Cholera
Tachycardia, Hypotension, Hypovolemic shock, Irritability ORPHA:173
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Alexander Disease Type Ii
Dysphagia, Abnormal autonomic nervous system physiology ORPHA:363722
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Central hypothyroidism, Polydipsia, Increased circulating pr... ORPHA:293987
Gitelman Syndrome
Prominent U wave, Graves disease, Polydipsia, Abnormal T-wave, Palpitations, ST segment depressio... ORPHA:358
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Tremor, Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic ... OMIM:105210
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to... ORPHA:293978
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Rett Syndrome
Bruxism, Stereotypical hand wringing, Abnormal autonomic nervous system physiology, Dystonia, Mot... ORPHA:778
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Machado-Joseph Disease
Dystonia, Dysphagia, Abnormal autonomic nervous system physiology OMIM:109150
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Depression, Reduced social reciprocity OMIM:618798
Acute Radiation Syndrome
Telangiectasia, Hypotension ORPHA:454831
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypertension, Polydipsia ORPHA:320
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Depression, Shock, Adrenal insufficiency, Emotional lab... ORPHA:90062
Cystinosis
Motor stereotypy, Polydipsia, Hypothyroidism, Portal hypertension ORPHA:213
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Lambert-Eaton Myasthenic Syndrome
Orthostatic hypotension due to autonomic dysfunction, Hypohidrosis, Xerostomia, Abnormal autonomi... ORPHA:43393
48,Xxxy Syndrome
Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or... ORPHA:96263
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Dystonia, Abnormal social behavior ORPHA:309256
Hereditary Angioedema Type 1
Hypotension, Dysphagia ORPHA:100050
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Agitation ORPHA:100924
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Portal hypertension, Wh... OMIM:609136
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Tremor, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Anorexia, Capillary leak, Orchitis, Aggressive be... ORPHA:99826
Septo-Optic Dysplasia Spectrum
Polydipsia, Cryptorchidism, Hypohidrosis, Anterior pituitary hypoplasia, Septo-optic dysplasia, O... ORPHA:3157
Parkinsonian-Pyramidal Syndrome
Dystonia, Dysphagia, Intention tremor, Abnormal autonomic nervous system physiology ORPHA:171695
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Dec... ORPHA:168558
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Emotional lability, Abnormal autonomic nervous system physiology, Torticollis, Dystonia, Motor st... ORPHA:300570
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Dec... ORPHA:289548
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Nephronophthisis 9
Polydipsia OMIM:613824
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Vestibular areflexia, Abnormal autonomic nervous... OMIM:614575
East Syndrome
Hyperaldosteronism, Salt craving, Polydipsia, Action tremor ORPHA:199343
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Irritability OMIM:304800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
47,Xyy Syndrome
Increased circulating gonadotropin level, Attention deficit hyperactivity disorder, Reduced socia... ORPHA:8
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Hyperaldosteronism, Salt craving, Hypertension, Intention tremor OMIM:612780
Porphyria Variegata
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Hypertrichosis ORPHA:79473
Nephronophthisis 1
Polydipsia, Hypertension OMIM:256100
Helix Syndrome
Hyperparathyroidism, Polydipsia, Xerostomia, Hypohidrosis, Anhidrosis OMIM:617671
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, Papilledema, First degree atrioventricular block, ... ORPHA:509
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... ORPHA:466650
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Hypopituitarism, Decr... ORPHA:90695
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Dystonia, Choreoathetosis, Reduced social reciprocity ORPHA:261197
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Ramos-Arroyo Syndrome
High anterior hairline, Xerostomia, Self-mutilation, Aganglionic megacolon, Abnormal autonomic ne... ORPHA:1051
Bartter Syndrome, Type 3
Hyperaldosteronism, Hypotension OMIM:607364
Chromosome 15Q11.2 Deletion Syndrome
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Memory impairment, R... OMIM:615656
Tick-Borne Encephalitis
Depression, Abnormal cranial nerve morphology, Tremor, Abnormal glossopharyngeal nerve morphology... ORPHA:297
Wolfram Syndrome
Optic atrophy, Gastrointestinal hemorrhage, Polydipsia, Cardiomyopathy, Abnormal autonomic nervou... ORPHA:3463
Renal Nutcracker Syndrome
Tachycardia, Syncope, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:71273
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Panhypopituitarism, Hyperpituitarism, ... ORPHA:91351
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Decreased heart rate variability, Hyperhidrosis, Abnormal autonomic nervou... OMIM:209880
Parkinson Disease 23, Autosomal Recessive Early-Onset
Limb dystonia, Resting tremor, Abnormal autonomic nervous system physiology OMIM:616840
Nephrogenic Diabetes Insipidus
Anorexia, Polydipsia, Hypovolemia ORPHA:223
Neurodegeneration With Brain Iron Accumulation 2A
Reduced social reciprocity OMIM:256600
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary... ORPHA:95494
Hellp Syndrome
Hypotension, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Alg11-Cdg
Opisthotonus, Reduced social reciprocity ORPHA:280071
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Wagro Syndrome
Low frustration tolerance, Emotional lability, Reduced social reciprocity OMIM:612469
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Hyperhidrosis, Abnormal autonomic nervous system physiology, Spa... OMIM:601559
Lysosomal Acid Lipase Deficiency
Hypotension, Pulmonary arterial hypertension, Primary adrenal insufficiency, Hypovolemia ORPHA:275761
Rett Syndrome, Congenital Variant
Dystonia, Athetosis, Reduced social reciprocity, Irritability OMIM:613454
Cerebral Creatine Deficiency Syndrome 1
Attention deficit hyperactivity disorder, Dystonia, Reduced social reciprocity OMIM:300352
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Lead Poisoning
Memory impairment, Depression, Reduced social reciprocity, Attention deficit hyperactivity disord... ORPHA:330015
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Pontocerebellar Hypoplasia, Type 8
Reduced social reciprocity OMIM:614961
Trisomy 20P
Highly arched eyebrow, Coarse hair, Thick eyebrow, Cryptorchidism, Low anterior hairline, Low pos... ORPHA:261318
Renal Hypoplasia
Polydipsia, Hypertension ORPHA:93101
Teratoma, Pineal
Polydipsia OMIM:273120
Senior-Boichis Syndrome
Polydipsia, Portal hypertension, Aggressive behavior, Attention deficit hyperactivity disorder, H... ORPHA:84081
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Limb dystonia, Axial dyst... ORPHA:646
Plague
Hypotension, Depression, Arrhythmia, Hematemesis, Anorexia, Tachycardia ORPHA:707
Spinal Cord Injury
Abnormal autonomic nervous system physiology, Allodynia ORPHA:90058
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Frontal balding, Shock, Decreased testicular size, Primary adrenal insufficiency, Hi... ORPHA:90794
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Intention tremor, Abnormal social behavior ORPHA:314647
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Dysphagia, Hyperactivity, Motor stereotypy, Synophrys ORPHA:447997
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bruxism, Hypothyroidism, Cryptorchidism, Abnormal autonomic nervous system physiology ORPHA:453499
Oligomeganephronia
Polydipsia, Hypertension, Optic disc coloboma ORPHA:2260
Rabson-Mendenhall Syndrome
Polydipsia, Cardiomyopathy, Premature graying of hair, Hypertrichosis, Low anterior hairline, Hir... ORPHA:769
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low frustration tolerance, Emotional lability, Reduced social reciprocity OMIM:309520
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Pa... ORPHA:99880
Erdheim-Chester Disease
Polydipsia, Hyperhidrosis, Congestive heart failure ORPHA:35687
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal par... ORPHA:143
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Polydipsia, Pancreatitis, Dysphagia, Sudden cardiac death ORPHA:537
Intellectual Developmental Disorder, Autosomal Dominant 1
Inappropriate laughter, Short attention span, Reduced social reciprocity OMIM:156200
Acute Transverse Myelitis
Autonomic bladder dysfunction, Subarachnoid hemorrhage, Orthostatic hypotension, Abnormal autonom... ORPHA:139417
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Abnormal autonomic nervous system physiology ORPHA:478029
Leprosy
Epistaxis, Alopecia, Testicular mass, Sparse body hair, Loss of eyelashes, Hypohidrosis, Absent e... ORPHA:548
Congenital Disorder Of Deglycosylation 2
Reduced social reciprocity OMIM:619775
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Attention deficit hyperactivity disorder, ... ORPHA:177907
Hyperparathyroidism, Neonatal Severe
Polydipsia, Primary hyperparathyroidism OMIM:239200
Bartter Syndrome, Type 2, Antenatal
Hyperaldosteronism, Low-to-normal blood pressure, Polydipsia OMIM:241200
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability ORPHA:1675
Nephronophthisis 4
Polydipsia OMIM:606966
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Emotional lability, Hair-pulling, Polyphagia, Attenti... OMIM:620330
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas physio... ORPHA:93111
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Parathyroid hyperplasia OMIM:617994
Phelan-Mcdermid Syndrome
Hypohidrosis, Reduced social reciprocity OMIM:606232
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Reduced social reciprocity OMIM:300912
Nephronophthisis 11
Polydipsia OMIM:613550
Arima Syndrome
Optic atrophy, Polydipsia, Hypertension OMIM:243910
Bartter Syndrome, Type 1, Antenatal
Hyperaldosteronism, Hyperparathyroidism, Low-to-normal blood pressure OMIM:601678
Juvenile Nephropathic Cystinosis
Hypothyroidism, Polydipsia, Hypovolemia ORPHA:411634
Stüve-Wiedemann Syndrome
Hypothyroidism, Hypohidrosis, Hyperhidrosis, Abnormal autonomic nervous system physiology, Ectopi... ORPHA:3206
Monosomy 22Q13.3
Bruxism, Long eyelashes, Thick eyebrow, Hair-pulling, Hypohidrosis, Hyperactivity ORPHA:48652
Nephronophthisis 3
Polydipsia OMIM:604387
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Inappropriate laughter, Primary adrenal in... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Inappropriate laughter, Primary adrenal in... ORPHA:363958
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Polydipsia ORPHA:411629
Cornelia De Lange Syndrome 6
Highly arched eyebrow, Sparse eyebrow, Frontal upsweep of hair, Hair-pulling, Compulsive behavior... OMIM:620568
Mend Syndrome
Abnormal social behavior ORPHA:401973
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Cystinosis, Nephropathic
Polydipsia, Exocrine pancreatic insufficiency, Primary hypothyroidism, Hypohidrosis, Hypopigmenta... OMIM:219800
Tuberous Sclerosis Complex
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:805
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Polydipsia, Portal hypertension, Biliary hyperplasia, Pancreatic cys... ORPHA:731
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Depression, Short attention span, Emotional lability, Reduced social reciprocity, Irritability, D... OMIM:619475
Trichothiodystrophy
Intention tremor, Reduced social reciprocity ORPHA:33364
Adnp Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:404448
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Depression, Decreased nerve conduction velocity, Arrhythmia, Raynaud phenomenon, Abnor... ORPHA:285
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Attention deficit hyperactivity disorder, ... OMIM:615873
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Polydipsia OMIM:602522
7Q11.23 Microduplication Syndrome
Reduced social reciprocity ORPHA:96121
Proximal Renal Tubular Acidosis
Polydipsia, Hypovolemia ORPHA:47159
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Hypomagnesemia 3, Renal
Polydipsia, Hypertension OMIM:248250
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Reduced social reciprocity ORPHA:457359
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Williams Syndrome
Depression, Overfriendliness, Tremor, Attention deficit hyperactivity disorder, Hypothyroidism, A... ORPHA:904
17Q11 Microdeletion Syndrome
Memory impairment, Short attention span, Reduced social reciprocity ORPHA:97685
Chromosome 1P36 Deletion Syndrome, Distal
Congenital hypothyroidism, Hypothyroidism, Reduced social reciprocity OMIM:607872
Mowat-Wilson Syndrome
Reduced social reciprocity ORPHA:2152

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 Oxt

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 Oxt.

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

Title Journal IMPC Allele PubMed ID
Oxytocin receptor ligand binding in embryonic tissue and postnatal brain development of the C57BL/6J mouse. Frontiers in behavioral neuroscience (December 2013) Oxtrtm1(KOMP)Vlcg PMC3858721

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MGI Allele Allele Type Produced
Oxttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Oxttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Oxttm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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