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Gene: Drd3 MGI:94925

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Gene Summary

Name:
dopamine receptor D3
Synonyms:
D3 receptor,  D3R

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small heart Drd3em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Drd3em1(IMPC)Mbp HOM Early adult 0.00
small spleen Drd3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Drd3 mutations

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

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

The table below shows human diseases associated to Drd3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Schizophrenia
Social and occupational deterioration OMIM:181500

The table below shows human diseases predicted to be associated to Drd3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Mania, Depression OMIM:125480
Autism, Susceptibility To, X-Linked 3
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:300425
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Autism, Susceptibility To, 8
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:607373
Autism
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:209850
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
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Autism, Susceptibility To, X-Linked 2
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:300495
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Chromosome 15Q11-Q13 Duplication Syndrome
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Autism, Susceptibility To, 3
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:608049
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia OMIM:238700
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Manganese Poisoning
Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Memory impairment, Irritabi... ORPHA:306682
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Reduced phenylalanine hydroxylase level, Elevated ... OMIM:261600
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... OMIM:239500
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Hypertrophic cardiomyopathy, Ataxia, Aggressive behavior OMIM:620270
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age, Increased serum serotonin ORPHA:85288
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Obesity Due To Sim1 Deficiency
Cognitive impairment, Attention deficit hyperactivity disorder, Hypotension, Memory impairment, P... ORPHA:369873
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Dystonia ORPHA:382
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... OMIM:605899
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Dementia, Falls, Gait imbalan... ORPHA:240094
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin OMIM:617885
Perry Syndrome
Akinesia, Frontotemporal dementia, Depression, Inappropriate behavior, Disinhibition, Short stepp... OMIM:168605
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... ORPHA:98818
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Spinocerebellar Ataxia Type 21
Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Depression, Dementia, Agitation, Shuffling gait, Low frustration tolerance... ORPHA:411602
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... ORPHA:309246
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Coffin-Siris Syndrome 8
Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, Failure to thrive OMIM:618362
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Limb ataxia, Difficulty walking, Dysphagia, Jerky head movements, Spastic gait ORPHA:251282
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia ORPHA:71518
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Dementia, Akinesia, Aggressive behavior OMIM:300894
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Ataxia, Increased level of gamma-aminobuty... OMIM:271980
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Schizophrenia
Social and occupational deterioration OMIM:181500
Classic Progressive Supranuclear Palsy Syndrome
Impulsivity, Akinesia, Neuromuscular dysphagia, Social and occupational deterioration, Falls, Gai... ORPHA:240071
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circu... OMIM:608747
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Corticobasal Syndrome
Memory impairment, Dementia, Gait disturbance, Akinesia ORPHA:454887
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon... OMIM:620141
Serotonin Syndrome
Restlessness, Tachycardia, Confusion, Hypertension, Irritability, Agitation, Hypotension, Hepatic... ORPHA:43116
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Hyperi... ORPHA:363400
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Perry Syndrome
Dementia, Hypotension, Depression ORPHA:178509
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Dysmetria, Gait ataxia, Dysphagia, Hypertension, Pollakisuria, Dementia, Gait disturbance... ORPHA:93256
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creati... OMIM:212138
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im... ORPHA:247234
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Dementia, Gait disturbance, Dysphagia OMIM:606693
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Mercury Poisoning
Tachycardia, Confusion, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury ORPHA:330021
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... ORPHA:94093
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, ... OMIM:620300
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... ORPHA:449285
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Huntington Disease-Like 1
Restlessness, Abnormal head movements, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Je... ORPHA:157941
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Hypertension, Self-injuriou... ORPHA:449291
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Ataxia, Akinesia, Congestive heart failure... ORPHA:48818
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated creatine kinase after exercise, El... ORPHA:159
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Disinhibition, Ad... ORPHA:43
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Confusion, Heart block, Elevated circulating creatini... ORPHA:542323
Central Diabetes Insipidus
Lethargy, Polydipsia, Anorexia ORPHA:178029
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... OMIM:618917
Parkinson Disease 17
Akinesia OMIM:614203
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Akinesia OMIM:607598
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co... ORPHA:91547
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Citrullinemia Type Ii
Elevated hepatic transaminase, Restlessness, Hyperactivity, Decreased HDL cholesterol concentrati... ORPHA:247585
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Heparan sulfate excreti... OMIM:252920
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Increased circulating lactate deh... ORPHA:35069
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Jerky head movements, Dysphagia ORPHA:240103
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Hyperactivity, Ataxia, Aggressive behavior... ORPHA:168491
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Progressive language deteriorati... ORPHA:163681
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Dementia, Akinesia OMIM:616840
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... ORPHA:79155
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurre... OMIM:617600
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556037
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms OMIM:617393
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Renal insuffic... ORPHA:31826
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Congenital Myopathy 9A
Akinesia OMIM:618822
Postencephalitic Parkinsonism
Depression, Abnormal aggressive, impulsive or violent behavior, Akinesia, Dysphagia ORPHA:97349
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium OMIM:611489
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Hypomagnesemia, V... OMIM:263800
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Ataxia, Proteinuria, Anorexia, Myocarditis, Jaun... ORPHA:549
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Foxg1 Syndrome
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism ORPHA:561854
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:352490
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension, Renal salt wasting OMIM:264350
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556030
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Hypothyroidism, Self-injurious behavior, Skin-picking, Abnorm... OMIM:600430
Nipah Virus Disease
Hypotension, Anorexia ORPHA:99825
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hyperactivity, Atrial fibrillation, Congestive heart failure, Jaun... ORPHA:525731
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Meningococcal Meningitis
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Anorexia, Irri... ORPHA:33475
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolem... ORPHA:427
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Hypotension, Prolonged neonatal jaundice ORPHA:199296
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Bundle branch block, Hyperactivity, Short attention span, First degree atrioventric... ORPHA:589821
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the thyroid gland, Self hugging, Head-banging, Onychotillomania, Ab... OMIM:182290
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Rett Syndrome
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... ORPHA:778
Infant Botulism
Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia ORPHA:178478
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Tricuspid regurgitation, Anorexia, Right ventricular failure, Mele... ORPHA:100080
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Self-mutilation of tongue and lips due to involuntary m... ORPHA:2388
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r... OMIM:618342
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Galloway-Mowat Syndrome 6
Hypothyroidism, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased response... OMIM:618347
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Oliguria, ... ORPHA:31824
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Supranuclear Palsy, Progressive, 2
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia OMIM:609454
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... OMIM:617695
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Dysphagia, Moto... OMIM:252930
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Renal insufficiency, Confusion, Elevated circulating C-reac... ORPHA:319213
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Self-biting, Hypogonadism, Abnormal repet... ORPHA:3306
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Depression, Nephrocalcinosis, Hyperphosphatemia, Hypoca... ORPHA:428
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Tricuspid regurgitation, Anorexia, Right ventricular failure, Hema... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Tricuspid regurgitation, Anorexia, Right ventricular failure, Hema... ORPHA:100082
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Jerky head movements OMIM:245348
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Irri... ORPHA:173
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing OMIM:614104
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Lysosomal Acid Lipase Deficiency
Psychomotor deterioration, Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Hyp... ORPHA:275761
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Huntington Disease-Like 3
Abnormal head movements, Progressive gait ataxia, Broad-based gait ORPHA:157946
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Beta-Ketothiolase Deficiency
Ketonuria, Ataxia, Anorexia, Hyperammonemia, Hypertension, Agitation, Hyperuricemia, Hypotension,... ORPHA:134
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Acute kidney injury, Ataxia, Confusion, Elevated circulating creatine kina... ORPHA:466650
Cutaneous Mastocytoma
Elevated total serum tryptase, Telangiectasia of the skin, Hypotension, Telangiectasia macularis ... ORPHA:79455
Whipple Disease
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Ataxia, Myocardial infarction, Anorexia,... ORPHA:3452
Staphylococcal Necrotizing Pneumonia
Shock, Confusion, Elevated circulating C-reactive protein concentration, Addictive alcohol use, H... ORPHA:36238
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:177735
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms ORPHA:280763
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... OMIM:269700
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Inhalational Anthrax
Confusion, Internal hemorrhage, Hypotension ORPHA:247257
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Elevated circulating alkaline phospha... ORPHA:98850
Gaucher Disease, Perinatal Lethal
Hepatic failure, Progressive neurologic deterioration, Akinesia, Dysphagia OMIM:608013
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Decreased circulating cortisol level, Confusion, Primary adr... ORPHA:139396
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... OMIM:610217
Poliomyelitis
Confusion, Anorexia, Inability to walk, Hypertension, Hypovolemic shock, Irritability, Agitation,... ORPHA:2912
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium, Multilobulated spleen, Pu... OMIM:601186
Supranuclear Palsy, Progressive, 1
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia OMIM:601104
Christianson Syndrome
Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia ORPHA:85278
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... ORPHA:188
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Potocki-Lupski Syndrome
Hypothyroidism, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Dpagt1-Cdg
Prolonged QT interval, Elevated hepatic transaminase, Ataxia, Akinesia, Aggressive behavior, Inab... ORPHA:86309
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Salt craving, Renal insufficiency, Hypercalcemia, Myocardi... ORPHA:95409
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Urinary incontinence, Neonatal hyperbilirubinemia, Urinary urgency, Urinary hesita... OMIM:609727
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Anorexia, Right ventricular failure, Palpitations, Facial telangiectasia... ORPHA:97287
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Abnormal repetitive mannerisms OMIM:619877
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Tricuspid regurgitation, Anorexia, Right ventricular failure, Hema... ORPHA:100075
Congenital Myopathy 12
Akinesia OMIM:612540
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Hyperlysinemia
Short attention span, Hyperactivity, Abnormal circulating enzyme concentration or activity, Argin... ORPHA:2203
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Hyp... ORPHA:361
Xq28 (MECP2) duplication
Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Congenital Enterovirus Infection
Myocarditis, Hepatitis, Hyperammonemia, Cardiomyopathy, Irritability, Hypoalbuminemia, Hypotensio... ORPHA:292
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Central hypothyroidism, Stereotypical b... OMIM:300912
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
East Syndrome
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia ORPHA:199343
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Renal insufficiency, Recurrent urinary tract infections, Confusion, Glomerulo... ORPHA:36234
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:300986
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Urinary incontinence, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive m... ORPHA:447997
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Orotica... OMIM:207800
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Ketonuria, Ataxia, Cardiac arrest, Anorexia, Jaundice, Dilated car... ORPHA:20
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Decreased response to growth hormone stimulation... ORPHA:457240
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Hellp Syndrome
Elevated hepatic transaminase, Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Inc... ORPHA:244242
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Cystinosis
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Delayed puberty, Type I diabetes ... ORPHA:213
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
48,Xxyy Syndrome
Hypergonadotropic hypogonadism, Abnormal repetitive mannerisms, Type II diabetes mellitus, Attent... ORPHA:10
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... OMIM:619580
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms OMIM:619092
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:618430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms OMIM:613443
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Postural hypotension with compensatory tachycardia, Self-mutil... OMIM:256800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Type I d... ORPHA:488618
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:411986
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Ataxia, Confusion, Jaundice, H... ORPHA:90062
Familial Cold Urticaria
Polydipsia ORPHA:47045
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Hypothyroidism, Pica, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia ORPHA:99828
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism OMIM:616351
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Tuberous Sclerosis Complex
Hyperactivity, Renal insufficiency, Abnormality of the kidney, Impulsivity, Aggressive behavior, ... ORPHA:805
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Anorexia, Hyperkalemia, Hepatitis, Hyperuri... ORPHA:199299
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Aplasia/Hypoplasia of t... ORPHA:1727
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Scrub Typhus
Myocarditis, Renal insufficiency, Hypotension ORPHA:83317
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... ORPHA:100078
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms OMIM:618067
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Ogden Syndrome
Lethargy, Shuffling gait, Abnormal head movements ORPHA:276432
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
African Trypanosomiasis
Abnormal EKG, Pericarditis, Akinesia, Aggressive behavior, Myocarditis, Congestive heart failure,... ORPHA:3385
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Oppositional... OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:300260
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Abnormal repetitive mannerisms ORPHA:500159
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, Attention deficit hyperactivity disorder, D... OMIM:619312
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Hypoalbuminemia, Internal hemorrhag... ORPHA:99826
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Elevated total serum tryptase, Hypotension ORPHA:79456
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Alexander Disease
Ataxia, Sudden cardiac death, Depression, Hypertension, Self-injurious behavior, Gait disturbance... ORPHA:58
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin OMIM:614008
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms ORPHA:927
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Atypical Werner Syndrome
Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Insulin-resistant diab... ORPHA:79474
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Teratoma, Pineal
Polydipsia OMIM:273120
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Sepsis In Premature Infants
Tachycardia, Elevated circulating C-reactive protein concentration, Jaundice, Oliguria, Bradycard... ORPHA:90051
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Necrotizing Enterocolitis
Shock, Hyponatremia, Bradycardia, Hypotension ORPHA:391673
Arthrogryposis Multiplex Congenita 5
Cardiac arrest, Akinesia OMIM:618947
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness OMIM:619293
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:819
Leptospirosis
Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinary casts, Jaundice, Re... ORPHA:509
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Pituitary Apoplexy
Hyponatremia, Hypertension, Confusion, Hypotension ORPHA:95613
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Ritscher-Schinzel Syndrome 4
Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior OMIM:619435
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... OMIM:619103
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Ochoa Syndrome
Polydipsia ORPHA:2704
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618205
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, H... ORPHA:90791
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Abnormal repetitive mannerisms OMIM:617807
Addison Disease
Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting,... ORPHA:85138
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619121
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619428
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Pde4D Haploinsufficiency Syndrome
Hypospadias, Hypotension ORPHA:439822
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Legius Syndrome
Short attention span, Hyperactivity, Paroxysmal atrial tachycardia, Nephrolithiasis, Male urethra... ORPHA:137605
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repetitive mannerisms... OMIM:616364
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hypovolemia, Abnormal urine potassium concentration, Hyperkalem... ORPHA:168558
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension ORPHA:100079
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia ORPHA:369929
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hypovolemia, Abnormal urine potassium concentration, Hyperkalem... ORPHA:289548
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... ORPHA:476126
Brain-Lung-Thyroid Syndrome
Hyperactivity, Ataxia, Abnormal eating behavior, Abnormal drinking behavior, Choreoathetosis, Fal... ORPHA:209905
Hennekam-Beemer Syndrome
Irritability, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Dysdiadochokinesis, Salt craving, Ataxia OMIM:612780
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Congenital Disorder Of Glycosylation, Type Iia
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior OMIM:212066
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Rett Syndrome, Congenital Variant
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism OMIM:613454
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Phelan-Mcdermid Syndrome
Tongue thrusting, Abnormal repetitive mannerisms, Aggressive behavior, Bruxism OMIM:606232
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Nephronophthisis 4
Polydipsia OMIM:606966
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Hereditary Sensory And Autonomic Neuropathy Type 4
Short attention span, Nail-biting, Hyperactivity, Impulsivity, Chronic kidney disease, Syncope, A... ORPHA:642
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Monosomy 22Q13.3
Renal dysplasia, Hyperactivity, Hair-pulling, Bruxism, Vesicoureteral reflux, Recurrent pyeloneph... ORPHA:48652
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:300352
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:615656
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Abnormal repetitive mannerisms ORPHA:2479
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms, Abnormal temper tantrums, Aggressive behavior ORPHA:457279
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Bainbridge-Ropers Syndrome
Precocious puberty, Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:615485
Den Hoed-De Boer-Voisin Syndrome
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing, Dysphagia OMIM:619229
Systemic Mastocytosis With Associated Hematologic Neoplasm
Elevated total serum tryptase, Tachycardia, Syncope, Hypotension ORPHA:98849
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... ORPHA:468678
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Kleefstra Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior ORPHA:261494
Joubert Syndrome 6
Abnormal repetitive mannerisms OMIM:610688
Hereditary Angioedema Type 1
Hypotension, Dysphagia ORPHA:100050
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:261197
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ... OMIM:619575
Nephronophthisis 3
Polydipsia OMIM:604387
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Sandhoff Disease
Exaggerated startle response OMIM:268800
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Nephronophthisis 1
Polydipsia OMIM:256100
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal repetitive mannerisms ORPHA:300570
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting ORPHA:522077
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Nephronophthisis 11
Polydipsia OMIM:613550
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... ORPHA:96121
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hyponatremia, Renal salt wasting, Long penis, Hypovolemia, Hyperkalemia, Elevated urinary ... ORPHA:90794
Wiedemann-Steiner Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Dyspha... ORPHA:319182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia, Hypotension ORPHA:293978
Plague
Tachycardia, Anorexia, Hematemesis, Unsteady gait, Depression, Hypotension, Arrhythmia, Delirium ORPHA:707
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... ORPHA:740
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms OMIM:300672
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:610954
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... OMIM:619475
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ... OMIM:619512
Renal Hypoplasia
Polydipsia ORPHA:93101
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Hypokalemia, Palpitations, H... ORPHA:91347
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Van Esch-O'Driscoll Syndrome
Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder, Abnormal repetitive mann... OMIM:301030
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Helix Syndrome
Polydipsia OMIM:617671
Panhypophysitis
Polydipsia ORPHA:95513
Prolactinoma
Hypotension ORPHA:2965
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Erdheim-Chester Disease
Polydipsia, Ataxia ORPHA:35687
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Diabetes insipidus, Self-injurious behavior, Abnormal circulating calcium-ph... ORPHA:534
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:508533
Wolfram Syndrome
Polydipsia, Ataxia ORPHA:3463
Kinsship Syndrome
Abnormal repetitive mannerisms, Bruxism OMIM:619297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Posterior pituitary hypoplasia, Abnormal repetitive mannerisms, Attention deficit hyperactivity d... ORPHA:464311
Oligomeganephronia
Polydipsia ORPHA:2260
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Anterior pituitary hypoplasia ORPHA:464306
Developmental And Epileptic Encephalopathy 100
Abnormal repetitive mannerisms, Dysphagia OMIM:619777
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... ORPHA:580
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia ORPHA:537
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements ORPHA:369837
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:468631
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms, Pinea... ORPHA:513456
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms OMIM:618653
Ogden Syndrome
Abnormal repetitive mannerisms, Maternal diabetes, Dysphagia OMIM:300855
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia ORPHA:293987
Hypotonia, Ataxia, And Delayed Development Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:617330
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:616268
Parathyroid Carcinoma
Polydipsia, Dysphagia ORPHA:143
1P36 Deletion Syndrome
Hypothyroidism, Polyphagia, Self-injurious behavior, Hypogonadism, Dysphagia, Abnormal repetitive... ORPHA:1606
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Nmda Receptor Encephalitis
Neoplasm of the thymus, Hypersexuality, Agitation, Abnormal repetitive mannerisms ORPHA:217253
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Cystinosis, Nephropathic
Polydipsia, Dysphagia, Oral-pharyngeal dysphagia OMIM:219800
Primrose Syndrome
Restlessness, Diabetes mellitus, Hypergonadotropic hypogonadism, Aggressive behavior, Hypothyroid... OMIM:259050
Gitelman Syndrome
Polydipsia, Salt craving ORPHA:358
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Abnormal repetitive mannerisms OMIM:616682
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:614756
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:612474
Coffin-Siris Syndrome 12
Hypothyroidism, Abnormal repetitive mannerisms OMIM:619325
Norrie Disease
Diabetes mellitus, Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed pub... ORPHA:649
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Wolf-Hirschhorn Syndrome
Precocious puberty, Abnormal repetitive mannerisms OMIM:194190
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal repetitive mannerisms, Dysphagia, Bruxism ORPHA:261537
Mowat-Wilson Syndrome
Abnormal repetitive mannerisms, Dysphagia, Bruxism ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal repetitive mannerisms, Dysphagia, Bruxism ORPHA:261552

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 Drd3

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 Drd3.

No publications found that use IMPC mice or data for Drd3.

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MGI Allele Allele Type Produced
Drd3em1(IMPC)Mbp Exon Deletion Mice, Tissue
Drd3tm208592(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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