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Gene: Mir145a MGI:2676830

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Gene Summary

Name:
microRNA 145a
Synonyms:
Mirn145,  mmu-mir-145,  mmu-mir-145a

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mir145a 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 Mir145a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, X-Linked 3
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior OMIM:300496
Autism, Susceptibility To, X-Linked 1
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior OMIM:300425
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Autism, Susceptibility To, 8
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior OMIM:607373
Autism
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Seizure, Truncal ataxia, Abnormal repetitiv... OMIM:608636
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chorea, Seizure... OMIM:619150
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Abnormal repe... OMIM:617171
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... OMIM:239500
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, H... OMIM:617600
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Clonic seizure, Self-injurious behavior, Seizure, Arthrogryposis multiplex congenita, Abnormal re... OMIM:615282
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Gait ... OMIM:618917
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Joint contracture, Abnormal repeti... OMIM:617393
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetit... OMIM:617862
N-Acetylaspartate Deficiency
Seizure, Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Developmental And Epileptic Encephalopathy 58
Seizure, Abnormal repetitive mannerisms, Status epilepticus OMIM:617830
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Elbow flexion contracture, Seizure, Abnormal repetitive manne... OMIM:619470
Autism, Susceptibility To, X-Linked 2
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior OMIM:300495
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Bilateral tonic-clonic seizure, Tonic seizure, Bilateral... OMIM:618067
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... ORPHA:208447
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Abnormal heart morphology, Seizure, Congenital con... ORPHA:352490
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis, Status ep... ORPHA:561854
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Skin-pi... OMIM:600430
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Pulmonic stenosis, Fac... OMIM:620141
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... OMIM:620292
Obesity, Hyperphagia, And Developmental Delay
Seizure, Abnormal repetitive mannerisms, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Focal-onset seizure, Gait ataxia, ... OMIM:619092
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Ataxia, Limb ataxia, Seizure, Self-injurious behavior, Attention deficit... OMIM:617695
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic seizure, Aggressive b... OMIM:619580
Nipah Virus Disease
Seizure, Myoclonus, Hypotension, Anorexia ORPHA:99825
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
Christianson Syndrome
Decreased muscle mass, Generalized-onset seizure, Dysphagia, Gait ataxia, Inappropriate laughter,... ORPHA:85278
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure OMIM:619690
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Abnormal repetitive mannerisms, Self-injurious behavior, Compulsive be... OMIM:617044
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Seizure, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxys... OMIM:618718
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Postural hypotension with compensatory tachycardia, Pol... ORPHA:369873
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seizure, ... ORPHA:168491
Lopes-Maciel-Rodan Syndrome
Dysphagia, Seizure, Agitation, Focal impaired awareness seizure, Bruxism, Abnormal repetitive man... OMIM:617435
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, Abnormal heart morphology, Se... OMIM:182290
Baker-Gordon Syndrome
Choreoathetosis, Abnormal repetitive mannerisms, Self-injurious behavior, Ataxia OMIM:618218
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Bilateral tonic-clonic seizure, Abnormal heart morphology, Seizure, Myoclonic spasms... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Mitral valve prolapse, Hypertension, Seizure, Self-injurious ... ORPHA:449291
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Ataxia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Attention deficit hyperact... OMIM:619725
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Neuromuscular dysphagia, Intracran... ORPHA:449285
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Atonic seizure, Tonic se... OMIM:300912
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Seizure, Inappropriate laughter, Febrile seizure (within the age range of ... OMIM:614104
Coffin-Siris Syndrome 6
Seizure, Tics, Attention deficit hyperactivity disorder, Atrial septal defect, Diaphragmatic even... OMIM:617808
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Myoclonus, Abnormal rep... OMIM:600795
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Primary Dystonia, Dyt13 Type
Torticollis, Abnormal repetitive mannerisms ORPHA:98807
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Abnormal repetitive mannerisms, Generalized non-motor (absence) seizure, Focal ... ORPHA:411986
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Macroglossia, Seizure, Hypotension, Atrial septal defect, Febrile seiz... OMIM:615668
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Seizure, Bradycardia, ... ORPHA:66529
Severe Intellectual Disability And Progressive Spastic Paraplegia
Seizure, Abnormal repetitive mannerisms, Facial hypotonia ORPHA:280763
Autism, Susceptibility To, 3
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior OMIM:608049
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Seizure, Mitral regurgitation, Self-injurious behavior, Attention deficit hy... ORPHA:313892
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Facial hypotonia, Ataxia, Tonic seizure, Repetitive compulsive behavior, Chor... OMIM:300260
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Bilateral tonic-clonic seizure, Generalized m... ORPHA:435638
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obses... OMIM:618825
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris... ORPHA:228402
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Bilateral tonic-clonic seizure, Cerebral hemorrhage, Dilated cardiomyopa... OMIM:620300
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Secundum atrial septal defect, Dysmetria, Facial diplegia, Attention deficit... OMIM:619121
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Ventricular septal defect, Attention deficit hyperactivi... OMIM:618504
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Ventricular septal defect, Aggressive behavior, Self-biting, Seizure, Tetralogy of... ORPHA:3306
Snijders Blok-Campeau Syndrome
Infantile spasms, Myoclonic seizure, Perimembranous ventricular septal defect, Pulmonic stenosis,... OMIM:618205
Developmental And Epileptic Encephalopathy 64
Chorea, Seizure, Self-injurious behavior, Status epilepticus, Bruxism, Abnormal repetitive manner... OMIM:618004
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Small thenar eminence, Self-inj... OMIM:618914
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Mitral valve prolapse, Seizure, Self-injurious behavior, Compulsive ... OMIM:300986
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Myocardial infarction, Seizure, Abnormal repetitive mannerisms, S... ORPHA:457240
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Abnormal rep... OMIM:301029
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100080
Xq28 (MECP2) duplication
Seizure, Abnormal repetitive mannerisms, Dysphagia, Gait ataxia DECIPHER:45
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Ataxia, Myocardial infarction, Anorexia, Myo... ORPHA:3452
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Seizure, Agitation, Cerebral ischemia, Abnormal repetitive mannerisms ORPHA:927
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Patent foramen ovale, Seizure, Atrial septal defect, Ab... OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Pain insensitivity, Ventricular septal defect, Aggressive behavior, Seizure, Se... OMIM:617061
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Alazami Syndrome
Abnormal eating behavior, Seizure, Atrial septal defect, Abnormal repetitive mannerisms, Self-mut... ORPHA:319671
22Q11.2 Duplication Syndrome
Ventricular septal defect, Seizure, Hypoplastic left heart, Transposition of the great arteries, ... ORPHA:1727
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Serotonin Syndrome
Restlessness, Tachycardia, Rhabdomyolysis, Hypertension, Seizure, Agitation, Myoclonus, Hypotension ORPHA:43116
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Choreoathetosis, Seizur... ORPHA:261197
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Ataxia, Aggres... ORPHA:457279
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100082
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Ataxia, Repetitive compulsive behavior, Muscular ventricular septal defect... ORPHA:66634
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Abnormal repetitive mannerisms, Abnormal heart ... ORPHA:500159
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Seizure, Attention deficit hyp... OMIM:620242
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Elbow contracture, Abnormal heart morphology, Seizure, Compulsive behaviors, Attention de... OMIM:615656
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Seizure, Abnormal repetitive man... OMIM:617751
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Abnormal repetitive mannerisms, Generalized-onset seizure, Facial hypotonia, Gait ataxia OMIM:617807
Hydroxykynureninuria
Tachycardia, Abnormal repetitive mannerisms, Hypotension ORPHA:79155
Meningococcal Meningitis
Shock, Anorexia, Seizure, Paresthesia, Hypotension ORPHA:33475
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Seizure, Hypotension, Arrhythmia ORPHA:159
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms ORPHA:85277
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Ataxia, Generalized clonic seizure, Focal-onset seizure, Generalized n... OMIM:619229
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Tongue thrusting, Choreoathetosis, Athetosis, Myoclonus, Hypotension, Limb hypertonia OMIM:608643
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... OMIM:619435
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Focal-onset seizure, Seizure, Status epilepticus, Dysphagia, Abnormal ... OMIM:617802
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Secundum atrial septal defect, Generaliz... OMIM:615802
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Anorexia, Abnormal skeletal muscle morpho... ORPHA:2912
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r... OMIM:618342
Mercury Poisoning
Tachycardia, Anorexia, Hypertension, Seizure, Hypotension ORPHA:330021
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:97287
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Rhabdomyolysis, Ventricular tachycardia, Seizure, Pa... OMIM:263800
Galloway-Mowat Syndrome 6
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Coffin-Siris Syndrome 7
Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Severe temper tantrums, Abnormal... OMIM:618027
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Seizure, Hypotension ORPHA:91354
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Infantile spasms, Generalized non-... ORPHA:457351
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Bilateral tonic-clonic seizure, Myocar... ORPHA:90068
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequ... OMIM:619103
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Radio-Tartaglia Syndrome
Ventricular septal defect, Ataxia, Impulsivity, Aggressive behavior, Seizure, Attention deficit h... OMIM:619312
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Seizure, Abnormal repetitive mannerisms OMIM:613443
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:228384
Transketolase Deficiency
Ventricular septal defect, Abnormal repetitive mannerisms, Abnormal heart morphology, Self-injuri... ORPHA:488618
Scrub Typhus
Myocarditis, Seizure, Hypotension ORPHA:83317
Perry Syndrome
Hypotension ORPHA:178509
Analbuminemia
Hypotension OMIM:616000
Legionnaires Disease
Pericarditis, Ataxia, Anorexia, Myocarditis, Endocarditis, Hypotension, Arrhythmia ORPHA:549
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Hypertension, Seizure, Agitation, Hypotension, Oral aversion ORPHA:134
Hijazi-Reis Syndrome
Seizure, Abnormal repetitive mannerisms OMIM:301094
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ... ORPHA:31826
48,Xxyy Syndrome
Seizure, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Hyperactivity, Pica, Seizure, Obsessive-compulsive trait, Abnormal repetitive m... OMIM:617796
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Facial hypotonia, Diastasis recti, Impaired pain sensation, Gait ataxia, Abnormal repetitive mann... OMIM:616579
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100075
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Attention deficit hyperactivity disor... ORPHA:98784
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... ORPHA:64280
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Aggressive behavior, Macroglossia, Seizure, Sel... ORPHA:261494
Inhalational Anthrax
Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomen... ORPHA:247257
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (wi... OMIM:620073
Childhood Disintegrative Disorder
Seizure, Abnormal repetitive mannerisms ORPHA:168782
4Q21 Microdeletion Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Aa Amyloidosis
Hypotension, Abnormal heart morphology ORPHA:85445
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Dysesthesia, Dysmetria, Gait ataxia, Dysphagia, Hypertension, Hypotension, Compulsive beh... ORPHA:93256
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia, Infantile spasms, Myoclonic seizure ORPHA:572013
Blepharophimosis-Impaired Intellectual Development Syndrome
Flexion contracture, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive manne... OMIM:619293
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Infant Botulism
Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia ORPHA:178478
White-Sutton Syndrome
Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, Aggressive behavior, Abnormal r... OMIM:616364
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Complete atrioventricular canal defect, Gait ataxia, Seizure, Compulsive beh... ORPHA:476126
White-Sutton Syndrome
Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, Aggressive behavior, Abnormal h... ORPHA:468678
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... OMIM:300672
Kleefstra Syndrome 1
Aggressive behavior, Conotruncal defect, Macroglossia, Seizure, Compulsive behaviors, Abnormal re... OMIM:610253
Mucopolysaccharidosis Type 2
Hyperactivity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Impulsivity,... ORPHA:580
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Macrocephaly-Developmental Delay Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:188
Cri-Du-Chat Syndrome
Hyperactivity, Diastasis recti, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilat... OMIM:123450
Chromosome 5P13 Duplication Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Cystinosis
Myopathy, Polydipsia, Abnormal repetitive mannerisms, Portal hypertension ORPHA:213
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Rett Syndrome
Skeletal muscle atrophy, Seizure, Agitation, Abnormal repetitive mannerisms, Stereotypical hand w... ORPHA:778
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Abnormal heart morphology ORPHA:391673
Alexander Disease
Ataxia, Facial palsy, Sudden cardiac death, Chorea, Hypertension, Seizure, Self-injurious behavio... ORPHA:58
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Seizure, Athetosis, Bruxism, Abnormal repetitive mannerisms OMIM:613454
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:529965
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hypotension ORPHA:199296
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Ataxia, Dysphagia, Arthrogryposis multip... ORPHA:496641
Phelan-Mcdermid Syndrome
Ventricular septal defect, Impaired pain sensation, Aggressive behavior, Tongue thrusting, Seizur... OMIM:606232
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Head-banging, Hematochezia, Seizure, Self-injurious behavior, Attentio... OMIM:619575
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Cardiac arrest, Anorexia, Dilated cardiomyopathy, Seizure, Myoclonus, Hypotension ORPHA:20
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Seizure, Abnormal repetitive mannerisms ORPHA:261144
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Ab... OMIM:300352
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Smith-Magenis Syndrome
Impaired pain sensation, Seizure, Self-injurious behavior, Attention deficit hyperactivity disord... ORPHA:819
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Pilarowski-Bjornsson Syndrome
Seizure, Abnormal repetitive mannerisms OMIM:617682
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Progressive flexion contractures, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Ch... ORPHA:522077
Acute Radiation Syndrome
Seizure, Hypotension, Telangiectasia ORPHA:454831
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Aggressive behavior, Seizure, Abnormal repetitive mannerisms, Self-mut... OMIM:212066
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Ventricular septal defect, Congenital diaphragmatic hernia, Aggress... ORPHA:96121
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Dengue Fever
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension ORPHA:99828
Nmda Receptor Encephalitis
Orthostatic hypotension, Generalized-onset seizure, Focal-onset seizure, Chorea, Hypersexuality, ... ORPHA:217253
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Chorea, Rhabdomyolysis, Hypertension, Agitation, Bradycardia, Hy... ORPHA:94093
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Seizure, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:1001
Lujo Hemorrhagic Fever
Shock, Bilateral tonic-clonic seizure, Myocarditis, Subconjunctival hemorrhage, Seizure, Bradycar... ORPHA:319213
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Anorexia ORPHA:98850
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypoglycemic seizures, Hypotension, Anorexia ORPHA:361
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:619475
Tuberous Sclerosis Complex
Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impulsivity, Focal-onset s... ORPHA:805
Congenital Enterovirus Infection
Pericardial effusion, Cardiomyopathy, Myocarditis, Hypotension ORPHA:292
Staphylococcal Necrotizing Pneumonia
Shock, Addictive alcohol use, Hypotension ORPHA:36238
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Focal-onset seizure, Congenital fibrosis of extraocular muscles, Sei... ORPHA:300570
Pde4D Haploinsufficiency Syndrome
Seizure, Hypotension ORPHA:439822
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Seizure, Hypotension, Arrhythmia ORPHA:2135
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Simple febrile seizur... ORPHA:464311
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased heart rate variability, Impaired pain sensation, Seizure, Attention deficit hyperactivi... OMIM:619005
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Genera... ORPHA:513456
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Facial palsy, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizu... OMIM:615873
Megalocornea-Intellectual Disability Syndrome
Seizure, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Bilateral tonic-clonic seizure, Macroglossia, Seizure, Perimembranous ... OMIM:301040
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... OMIM:619512
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hyperactivity, Multiple joint contractures, Ventricular septal defect, Seiz... ORPHA:464306
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Multiple joint contractures, Bilateral tonic-clonic seizure, Infantile spasms, Hai... ORPHA:447997
Autosomal Dominant Hypocalcemia
Congestive heart failure, Paresthesia, Hypotension, Arrhythmia, Cortical myoclonus ORPHA:428
Acute Adrenal Insufficiency
Orthostatic hypotension, Salt craving, Myocardial infarction, Anorexia, Hypovolemia, Seizure, Hyp... ORPHA:95409
Bacterial Toxic-Shock Syndrome
Shock, Myositis, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Prader-Willi Syndrome Due To Translocation
Abnormal repetitive mannerisms, Head-banging, Abnormal heart morphology, Seizure, Compulsive beha... ORPHA:177907
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Rhabdomyolysis, Seizure, ST segment depression, Hypotension, Abnor... ORPHA:466650
Late-Onset Isolated Acth Deficiency
Seizure, Orthostatic hypotension, Hypotension, Anorexia ORPHA:199299
Ogden Syndrome
Torticollis, Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventr... OMIM:300855
Cholera
Seizure, Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Ventricular septal defect, Bilateral tonic-clonic seizure, Congenital diaphr... OMIM:301044
Niemann-Pick Disease, Type C2
Seizure, Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Seizure, Truncal ataxia, Weakness ... OMIM:617330
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, ... ORPHA:353281
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Atrial... OMIM:301030
Bainbridge-Ropers Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Self-injurious behavior, Sei... OMIM:615485
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Elbow flexion contracture, Mitral valve prolapse, Seizure, Distal lowe... ORPHA:508533
Hereditary Angioedema Type 1
Paresthesia, Hypotension, Dysphagia ORPHA:100050
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Pericardi... ORPHA:99827
Marburg Hemorrhagic Fever
Shock, Pericarditis, Tachycardia, Anorexia, Aggressive behavior, Dysesthesia, Hypovolemia, Atypic... ORPHA:99826
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Ventricular septal defect, Bilateral tonic-clonic seizure, Aggre... OMIM:620330
Pitt-Hopkins Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Sepsis In Premature Infants
Seizure, Tachycardia, Bradycardia, Hypotension ORPHA:90051
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension ORPHA:100079
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Leptospirosis
Pericarditis, First degree atrioventricular block, Anorexia, Rhabdomyolysis, Retinal hemorrhage, ... ORPHA:509
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
1P36 Deletion Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopathy, Polyphagia, Tel... ORPHA:1606
Non-Functioning Pituitary Adenoma
Seizure, Hypotension ORPHA:91349
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Bilateral tonic-clonic seizure, Muscular ventricular... OMIM:612474
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Abnormal repetitive mannerisms, Upper l... OMIM:616268
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Seizur... ORPHA:91347
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Patent foramen ovale, Heart murmur OMIM:618653
Prolactinoma
Seizure, Hypotension ORPHA:2965
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Pain insensitivity, Ataxia, Intracranial hemorrhage, Seizure,... ORPHA:90062
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Seizure, Abnormal repetitive mannerisms, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, ... ORPHA:353277
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Seizure, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Camptodactyly of finger, Ankle flexion contracture, Knee flexion con... ORPHA:468631
Addison Disease
Orthostatic hypotension, Salt craving, Anorexia, Seizure, Hypotension ORPHA:85138
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized myoclonic... OMIM:614756
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Seizure, Multifocal seizures, Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure, Hypotension ORPHA:293978
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Hyperactivity, Flexion contracture, Seizure, Camptodactyly, Abnormal rep... OMIM:309590
Coffin-Siris Syndrome 12
Facial palsy, Abnormal repetitive mannerisms, Heart murmur, Seizure, Tetralogy of Fallot, Patent ... OMIM:619325
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Plague
Tachycardia, Anorexia, Hematemesis, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Restlessness, Ataxia, Aggressive behavior, Flexion cont... OMIM:259050
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Hypovolemia, Hypotension ORPHA:275761
Oculocerebrorenal Syndrome Of Lowe
Seizure, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disorder,... ORPHA:534
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Ventricular septal defect, Seizure, Atrial septal defect, Abnormal repetit... OMIM:194190
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Mowat-Wilson Syndrome
Bicuspid aortic valve, Ataxia, Impaired pain sensation, Focal-onset seizure, Flexion contracture,... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Impaired pain sensation, Focal-onset ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Impaired p... ORPHA:261552
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Atrial s... OMIM:619522
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Aggressive behavior, Seizure, Joint contracture of the hand, Abnormal re... OMIM:309000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Hypotension ORPHA:90794
Combined Pituitary Hormone Deficiencies, Genetic Forms
Seizure, Hypotension ORPHA:95494
Norrie Disease
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity... ORPHA:649
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695

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 Mir145a

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 Mir145a.

No publications found that use IMPC mice or data for Mir145a.

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MGI Allele Allele Type Produced
Mir145atm1(mirKO)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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