Gene Summary

Name:
vimentin
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased blood uric acid level Vimtm2Cba HOM Early adult 5.12×10-08
increased granulocyte number Vimtm2Cba HOM Early adult 1.48×10-05

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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 Vim 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 Vim by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 30, Multiple Types
OMIM:116300

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Azotemia, Familial
Azotemia OMIM:109160
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Lesch-Nyhan Syndrome
Hyperuricemia, Anemia ORPHA:510
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Anemia OMIM:613092
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, C... OMIM:605361
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Simplified gyral pattern, Ataxia, Hyperactivity OMIM:613402
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Neutropenia OMIM:617056
Hyperuricemia, Hprt-Related
Hyperuricosuria, Hyperuricemia OMIM:300323
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Abnormal cerebellum morphology, Irritability, Anxiety,... OMIM:123400
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Chorea, Ataxia, Bradykinesia, Progressive cerebellar... ORPHA:248111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia ORPHA:543
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Cerebral cortical atrophy, Cerebellar a... OMIM:604326
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Frontotemporal cerebral atrophy... ORPHA:412066
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Gray matter heterotopia, Abnormality of neuronal migration, Poly... OMIM:604317
Xanthinuria, Type Ii
Hypouricemia OMIM:603592
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Cerebral atrophy, Irritability, Hyperactivity OMIM:616657
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity OMIM:618090
Cystinuria
Hyperuricemia ORPHA:214
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Anemia, Leukopenia, Hypomagnesemia OMIM:613845
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:3222
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral atrophy, Hyperactivity OMIM:609924
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia, Gray matter heterotopia OMIM:604213
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Bradykinesia, Craniofacial dystonia, Emotional lability, Cerebellar atro... ORPHA:71517
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Aggressive behavior, Depression, Cerebral atrophy, Neurodegeneratio... OMIM:615157
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Elevated circulating gamma-aminobutyric acid concentration, Increased level ... OMIM:271980
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Depression, Chorea, Ataxia, Cerebellar atrophy, Irritability, Anxiety, Dys... OMIM:618093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia, Abnormal left ventricular functio... OMIM:613155
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Hyperammonemia, Hyperuricemia, Anemia OMIM:246450
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia OMIM:300661
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia ORPHA:411536
Cln5 Disease
Atrophy/Degeneration affecting the central nervous system, Dysdiadochokinesis, Inability to walk,... ORPHA:228360
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hyperprolinemia, Type I
Aggressive behavior, Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, Hyperprolinemia, Hyp... OMIM:239500
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Xq25 Microduplication Syndrome
Cerebellar hypoplasia, Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Cerebellar hypoplasia, Anxiety, Hyperactivity OMIM:300979
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Cerebral atrophy, Ataxia, Hypertriglyceridemia, Hyperactivity, Mental deterioration, Ne... OMIM:615924
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Ataxia... ORPHA:370022
Coach Syndrome 2
Elevated circulating creatinine concentration, Cerebellar vermis hypoplasia, Hypertension OMIM:619111
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Hypouricemia, Renal, 1
Hypouricemia OMIM:220150
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Diffuse cerebellar atrophy, Dementia, Dysesthesia, Hypotension, Depression, Gait dis... ORPHA:93256
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia ORPHA:261222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hyperuricosuria, Hyperuricemia OMIM:300322
Glycine Encephalopathy
Lethargy, Aggressive behavior, Hyperglycinemia, Hyperglycinuria, Impulsivity, Irritability, Hyper... OMIM:605899
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Cognitive impairment, Punctate vasculitis skin lesions, Gas... ORPHA:247691
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Thrombocytosis, Hyperuricemia ORPHA:134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Elevated cir... OMIM:615181
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Optic Atrophy 11
Cerebellar hypoplasia, Ataxia, Brain atrophy, Dysmetria, Hyperactivity OMIM:617302
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Gliosis, Depression, Gait disturbance, Cerebellar dysplasia, Myocardial infarcti... ORPHA:457240
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia, Splenomegaly ORPHA:79083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebell... OMIM:613153
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Hypouricemia, Autoimmune hemolytic anemia, Decreased proportion of C... ORPHA:760
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia ORPHA:411543
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Emotional lability, Cerebellar atr... ORPHA:35069
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Gait ataxia, Disinhibition, Dementia, Depression, Bradykinesia, Cerebellar at... OMIM:300623
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnormal cerebellum morphology, Gait imbalanc... ORPHA:101070
Preeclampsia
Elevated diastolic blood pressure, Hypertension, Elevated circulating creatinine concentration, E... ORPHA:275555
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Depression, Chorea, Cerebral atrophy, Polymicrogyria, Impulsivity, Hyperactivity ORPHA:88616
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Steppage gait, Depression, Emotional lability, Social and occup... ORPHA:98818
Pandas
Claustrophobia, Depression, Chorea, Agoraphobia, Emotional lability, Separation insecurity, Impul... ORPHA:66624
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar atrophy, Telangiectasia OMIM:604391
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Hyperuricemia, Anemia, Leukopenia, Hyperammonemia ORPHA:20
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Rhombencephalosynapsis, Depression, Self-injurious behavior, Cerebell... OMIM:601853
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Normocytic anemia, Hypercalcemia, Eosinophilia, Macrocytic anemia ORPHA:199299
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Neurodegeneration, Bradykine... OMIM:610217
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Elevated circulating cre... ORPHA:94093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Corpus callosum atrophy, Aggressive behavior, Brain atrophy, Cerebral cortical atrophy, Cerebella... ORPHA:369939
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Corpus callosum atrophy, Dementia, Aggressive behavior, Gait disturbance, Cere... ORPHA:168491
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hyperuricemia OMIM:142625
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Cerebral atrophy, Hypertension, Ataxia, Progressive psychomotor deterioration, Hyper... ORPHA:363400
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Phenylketonuria
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Depression, Hyperphenylalan... OMIM:261600
Mental Retardation, Autosomal Dominant 43
Impulsivity, Cerebral atrophy, Anxiety, Hyperactivity OMIM:616977
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Cognitive impairment, Memory imp... ORPHA:369873
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Bipolar affective disorder, Aggressive behavi... ORPHA:3077
Glycogen Storage Disease Ib
Neutropenia, Hyperuricemia, Hyperlipidemia OMIM:232220
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:203800
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Aggressive behavior, Polymicrogyria, Cerebellar vermis atrophy, Hyperactivity, Simpl... OMIM:300354
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension OMIM:616733
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dil... OMIM:615960
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Adenylosuccinase Deficiency
Inability to walk, Self-mutilation, Gait ataxia, Inappropriate laughter, Aggressive behavior, Cer... OMIM:103050
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Transient hyperphenylalaninemia, Aggressive behavior, Ataxia, Hyperactivity, Choreoathe... OMIM:612716
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Normocytic anemia, Hypercalcemia,... ORPHA:95409
Mental Retardation, Autosomal Recessive 13
Abnormal cerebellar vermis morphology, Hyperactivity OMIM:613192
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Chorea, Self-injurious behavior, Cer... ORPHA:485350
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Impaired pain sensation, Aggressive behavior, Chorea, C... ORPHA:500180
Mental Retardation, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia, Dilated fourth ventric... OMIM:617751
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Neurodegeneration, Ataxia, Cerebellar atrophy, Unsteady gait, Telang... OMIM:615919
C3 Glomerulopathy
Elevated circulating creatinine concentration, Hypertension ORPHA:329918
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Global brain atrophy, Emotional lability, Subcortical cerebral a... ORPHA:1929
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Addison Disease
Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperuricemia, Increased circulating reni... ORPHA:85138
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia, Decreased serum creatinine ORPHA:54057
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Elevated c... ORPHA:439232
Ck Syndrome
Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity ORPHA:251383
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Chronic neutropenia, Hyperuricemia, Hypertriglyceridemia, Abnormal myeloid ... ORPHA:79259
Hypomagnesemia 3, Renal
Hypomagnesemia, Hyperuricemia OMIM:248250
Glycogen Storage Disease Ia
Hyperuricemia, Hyperlipidemia OMIM:232200
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Ck Syndrome
Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity OMIM:300831
47,Xyy Syndrome
Azoospermia, Oligospermia, Cerebellar dysplasia, Impulsivity, Dysgenesis of the cerebellar vermis... ORPHA:8
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... ORPHA:542323
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Lethargy, Hyperactivity OMIM:274270
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hyponatremia, Decreased circulating renin level, Irritability, ... OMIM:300539
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia OMIM:616026
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hyperuricosuria OMIM:229600
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Abnormal erythrocyte enzyme level ORPHA:1187
Hydroxykynureninuria
Hypotension, Tachycardia, Aminoaciduria OMIM:236800
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Perry Syndrome
Hypotension, Apathy, Dementia, Depression ORPHA:178509
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Chorea, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Relapsing Fever
Increased total bilirubin, Hypotension, Elevated circulating creatinine concentration, Epistaxis,... ORPHA:91547
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Sotos Syndrome 3
Hyperactivity OMIM:617169
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Abnormal pons morphology, Aggressive behavior, Hyperactivity ORPHA:85327
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, So... ORPHA:43
Nephronophthisis 2
Pulmonary insufficiency, Elevated circulating creatinine concentration, Hyperkalemia, Hypertension OMIM:602088
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Self-injurious behavior, Brain atrophy, Paroxysmal bursts of laughter, Hyperac... OMIM:618718
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Disorganization of the anterior cerebellar vermis, Cerebellar hypoplasia, Retrocereb... OMIM:300486
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block... OMIM:212138
Argininemia
Hyperargininemia, Cerebellar atrophy, Spastic gait, Irritability, Hyperactivity, Diaminoaciduria,... OMIM:207800
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... OMIM:223900
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Glycogen Storage Disease Ic
Hyperuricemia, Hyperlipidemia OMIM:232240
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine, Arterial occlusion, Abnormal cardiovascular system physiology ORPHA:289601
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension, Cogni... OMIM:235400
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Aggressive behavior, Pain insensitivity, Self-injurious behavior, Hyperactivity OMIM:600430
Mend Syndrome
Aortic valve stenosis, Dandy-Walker malformation, Hyperactivity OMIM:300960
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypertension OMIM:613095
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia OMIM:615501
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Meningococcal Meningitis
Lethargy, Paresthesia, Hypotension, Irritability, Elevated circulating C-reactive protein concent... ORPHA:33475
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Cerebral cortical atrophy, Hyperactivity, Happy... OMIM:614104
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... ORPHA:230
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Tachycardia, Hypoalbumi... ORPHA:36234
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Hyperlysinemia, Type I
Cognitive impairment, Hyperlysinemia, Hyperactivity OMIM:238700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hyperuricemia ORPHA:93111
Graves Disease, Susceptibility To, 1
Congestive heart failure, Irritability, Hyperactivity OMIM:275000
Cockayne Syndrome
Hyperuricemia, Splenomegaly ORPHA:191
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Arrhythmia, Lethargy, Hypotension, Ventricular tachycardia, Elevated ... ORPHA:159
19P13.12 Microdeletion Syndrome
Arrhythmia, Aortic regurgitation, Self-injurious behavior, Aplasia/Hypoplasia of the cerebellar v... ORPHA:254346
Analbuminemia
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Hypoalbuminemi... OMIM:616000
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Brain atrophy OMIM:615286
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Cerebellar vermis hypoplasia, Ataxia, Elongated superior ce... OMIM:213300
Autosomal Dominant Hypocalcemia
Hypocalcemia, Arrhythmia, Paresthesia, Depression, Hypotension, Emotional lability, Writer's cram... ORPHA:428
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612926
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Hypotension, Blepharospasm, Emotional lability, Torticollis, Oculogyric crisis, Irritab... OMIM:608643
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Chorea, Abnormal circulating creatine concentration, Ataxia, Hyperacti... ORPHA:52503
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Happy demeanor, Broad-based gait, Hyperactivity OMIM:617865
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Head-banging, Hypertriglyceridemia, Impaired pain sensatio... OMIM:182290
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Cerebellar hypoplasia, Ataxia, Cerebral cortical atrophy, Unsteady gait, Hip... OMIM:614756
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Choreoacanthocytosis
Hair-pulling, Emotional lability, Head-banging, Cerebral cortical atrophy, Progressive inability ... ORPHA:2388
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Aggressive behavior, Acute hyperammonemia, Hyper... ORPHA:247585
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Hypertension, Irritability, Anxiety, Hy... ORPHA:449291
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Aggressive behavior, Progressive neurologic deterioration, Hyperac... OMIM:252920
Lhermitte-Duclos Disease
Polymicrogyria, Ataxia, Enlarged cerebellum ORPHA:65285
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Elevated circulating creatinine concentration ORPHA:90060
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Large vessel vasculitis, Renovascular hypertension, Elevated circu... ORPHA:49041
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Thrombotic Thrombocytopenic Purpura, Hereditary
Myocardial infarction, Transient ischemic attack, Elevated circulating creatinine concentration, ... OMIM:274150
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Global brain atrophy, Difficulty walking, Gait disturbance, Ataxia, Abnormal c... ORPHA:139396
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Hyperuricemia, Elevated circulating C-reac... ORPHA:97214
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia OMIM:252160
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Dengue Fever
Hypoproteinemia, Lethargy, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Cerebral hemorrhage ORPHA:99828
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hyponatremia, Hypertension, Myocardial infarction,... ORPHA:90038
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Choreoathetosis, Dementia, Global brain atrophy, Akinesia, Depression, Gait disturbance... OMIM:234200
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Depression, Hypotension, Hyponatremia, Ataxia, Myocard... ORPHA:3452
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hypertension OMIM:123550
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Hyperactivity OMIM:300912
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Postural hypotension with compensatory tachycardia, Pain insensitivity, Emotiona... OMIM:256800
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Myocardial infa... ORPHA:449285
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia OMIM:252150
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Reduced sperm motility, Hypertension ORPHA:730
Fragile X Syndrome
Periventricular heterotopia, Hyperactivity OMIM:300624
Pediatric-Onset Graves Disease
Palpitations, Sinus tachycardia, Atrial fibrillation, Hypertension, Congestive heart failure, Irr... ORPHA:525731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Type II lissencephaly, Cerebellar cyst, Partial absence of cerebellar vermis, Cerebel... OMIM:613150
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension, Unsteady gait OMIM:618480
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Lissencephaly, Gray matter heterotopia OMIM:617822
19P13.3 Microduplication Syndrome
Self-injurious behavior, Cerebral atrophy, Irritability, Hyperactivity, Pulmonary arterial hypert... ORPHA:447980
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Tachycardia, Anxiety, Hyperactivity, Attention deficit hyperactivity d... ORPHA:485405
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Ataxia, Congestive heart failure, T... ORPHA:31826
Poliomyelitis
Inability to walk, Low self esteem, Paresthesia, Hypotension, Hypertension, Irritability, Hypovol... ORPHA:2912
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Congenital Hypothyroidism
Arrhythmia, Paresthesia, Depression, Hypotension, Hypertension, Anxiety ORPHA:442
Legionnaires Disease
Arrhythmia, Pericarditis, Hypotension, Hyponatremia, Ataxia, Myocarditis ORPHA:549
7Q11.23 Microduplication Syndrome
Aggressive behavior, Self-injurious behavior, Cerebellar hypoplasia, Unsteady gait, Aortic valve ... ORPHA:96121
Serotonin Syndrome
Hypotension, Hypertension, Irritability, Tachycardia, Anxiety, Mental deterioration ORPHA:43116
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Dystonia, Pachygyria, Self-injurious behavior, Cerebellar atrophy, Hyperactivity... ORPHA:1934
13Q12.3 Microdeletion Syndrome
Self-mutilation, Impaired pain sensation, Hyperactivity ORPHA:412035
Familial Hypoaldosteronism
Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating ... ORPHA:427
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, Ataxia, ... ORPHA:72
Congenital Enterovirus Infection
Hypotension, Irritability, Hypoalbuminemia, Myocarditis, Hyperammonemia, Cardiomyopathy ORPHA:292
White-Sutton Syndrome
Aggressive behavior, Self-injurious behavior, Subcortical cerebral atrophy, Cerebral cortical atr... ORPHA:468678
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Self-biting, Hyperactivity OMIM:618314
Cholera
Hypocalcemia, Lethargy, Hypotension, Hyponatremia, Abnormal blood ion concentration, Hypokalemia,... ORPHA:173
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Angelman Syndrome
Progressive gait ataxia, Cerebral cortical atrophy, Paroxysmal bursts of laughter, Hyperactivity,... OMIM:105830
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Motor deterioration, Hyperactivity OMIM:252930
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... OMIM:145600
Mercury Poisoning
Dystonia, Hypotension, Hypertension, Hypokalemia, Tachycardia ORPHA:330021
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Impaired vibratory sensation, Hyperactivity OMIM:609727
Seckel Syndrome 1
Cerebellar vermis hypoplasia, Pachygyria, Hyperactivity OMIM:210600
Mastocytosis
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Impaired temperature sensation, Telangiecta... ORPHA:98292
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Gitelman Syndrome
Palpitations, Paresthesia, Hypotension, Ataxia, Ventricular tachycardia, Increased circulating re... OMIM:263800
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556037
Alexander Disease
Depression, Hypotension, Chorea, Gait disturbance, Self-injurious behavior, Ataxia, Hypertension,... ORPHA:58
Oligomeganephronia
Elevated circulating creatinine concentration, Hypertension ORPHA:2260
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556030
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
Scrub Typhus
Hypotension, Lethargy, Myocarditis ORPHA:83317
Necrotizing Enterocolitis
Lethargy, Hypotension, Hyponatremia, Shock, Bradycardia ORPHA:391673
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnormality of neuronal migration, Dysmetria,... ORPHA:98889
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Hyperactivity OMIM:619239
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Elevated circulating creatinine concentration, Small vessel vasculitis, Art... ORPHA:93126
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia ORPHA:91354
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Aggressive behavior, Dandy-Walker malformation, Hyperactivity OMIM:619148
Staphylococcal Necrotizing Pneumonia
Hypotension, Lethargy, Elevated circulating C-reactive protein concentration, Shock ORPHA:36238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cerebellar malformation, Pachygyria, Type II lissencephaly, Cerebellar dysplasia, Cerebellar hypo... OMIM:236670
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Orthostatic hypotension due to autonomic dysfunction, Difficulty walking, Pain i... ORPHA:642
Hyperlysinemia
Hypoornithinemia, Hyperlysinemia, Cystinuria, Argininuria, Dysmetria, Hyperactivity, Hyperammonem... ORPHA:2203
Nipah Virus Disease
Hypotension ORPHA:99825
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hyperactivity OMIM:252900
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
16P11.2P12.2 Microdeletion Syndrome
Impaired pain sensation, Arrhythmia, Tricuspid regurgitation, Hyperactivity ORPHA:261211
Colchicine Poisoning
Cardiogenic shock, Hypocalcemia, Hypophosphatemia, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:177735
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation, Melena, Facial tel... ORPHA:100080
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyponatremia, Hyperkalemia OMIM:264350
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Paresthesia, Hyperproteinemia ORPHA:29073
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation,... ORPHA:97287
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Reduced ejection fraction, Disinhibition, Aggressive behavi... ORPHA:581
Yellow Fever
Lethargy, Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Congestive heart failure ORPHA:99829
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100082
Hallermann-Streiff Syndrome
Hypertension, Hyperactivity, Pulmonary arterial hypertension, Choreoathetosis, Telangiectasia OMIM:234100
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cardiac conduction abnormality, Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotio... ORPHA:353281
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Glass Syndrome
Happy demeanor, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:612313
Adult Acute Respiratory Distress Syndrome
Hypotension, Vasculitis, Shock ORPHA:70578
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctiva... ORPHA:340
Igg4-Related Kidney Disease
Arteritis, Pericarditis, Elevated circulating creatinine concentration, Decreased retinol-binding... ORPHA:449395
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Aggressive behavior, Hyperactivity OMIM:309520
Hydroxykynureninuria
Hypotension, Tachycardia, Abnormal circulating tryptophan concentration ORPHA:79155
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Irritability, Telangiectasia of the skin ORPHA:2135
Brain-Lung-Thyroid Syndrome
Dystonia, Chorea, Ataxia, Falls, Hyperactivity, Pulmonary arterial hypertension, Choreoathetosis ORPHA:209905
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Hyperactivity OMIM:252940
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depre... ORPHA:466650
Mend Syndrome
Aggressive behavior, Elevated 8-dehydrocholesterol, Aortic valve stenosis, Hyperactivity, Elevate... ORPHA:401973
Infant Botulism
Hypotension, Hyponatremia, Cardiac arrest, Hypertension ORPHA:178478
Acute Liver Failure
Gastrointestinal hemorrhage, Depression, Intracranial hemorrhage, Hypotension, Pain insensitivity... ORPHA:90062
Koolen-De Vries Syndrome
Gray matter heterotopia, Pulmonic stenosis, Impulsivity, Anxiety, Hyperactivity, Conspicuously ha... OMIM:610443
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Acquired Von Willebrand Syndrome
Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hyp... ORPHA:99147
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Congenital Isolated Acth Deficiency
Hypotension, Hyponatremia ORPHA:199296
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Systolic heart murmur OMIM:617478
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:188
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Aa Amyloidosis
Hypotension ORPHA:85445
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Arrhythmia, Aggressive behavior, Hypertension, Impulsivity,... ORPHA:580
Familial Glucocorticoid Deficiency
Azoospermia, Hypotension, Hyponatremia, Hyperkalemia, Hypertrophic cardiomyopathy ORPHA:361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, ... OMIM:253280
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Right ventricular failure, Hematemesis, Hypotension, Tricuspid r... ORPHA:100075
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Monosomy 9Q22.3
Hyperactivity, Arnold-Chiari malformation ORPHA:77301
Distal Trisomy 17Q
Cerebellar hypoplasia, Hyperactivity ORPHA:3379
Aggressive Systemic Mastocytosis
Hypotension, Portal hypertension, Gastrointestinal hemorrhage ORPHA:98850
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Impaired pain sensation, Cerebellar cortical atrophy ORPHA:48652
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage OMIM:263400
Tuberous Sclerosis Complex
Aggressive behavior, Internal hemorrhage, Depression, Self-injurious behavior, Hypertension, Impu... ORPHA:805
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cardiac conduction abnormality, Aggressive behavior, Self-injurious behavior, Arnold-Chiari type ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cardiac conduction abnormality, Aggressive behavior, Self-injurious behavior, Arnold-Chiari type ... ORPHA:353277
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Low frustration tolerance, Anxiety, Hyperactivity ORPHA:319182
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Azoospermia, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:90791
Coffin-Siris Syndrome
Simplified gyral pattern, Aggressive behavior, Dandy-Walker malformation, Hyperactivity ORPHA:1465
Sepsis In Premature Infants
Hypotension, Tachycardia, Elevated circulating C-reactive protein concentration, Bradycardia ORPHA:90051
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Gait disturbance, Cerebral cortical atrophy, Aortic valve stenosis, Anxiety... ORPHA:464306
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypovolemia, Hypotension, Psychomotor deterioration, Hyponatremia, Hypertri... ORPHA:275761
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100077
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Olivopontocerebellar hypoplasia, Hyperactivity ORPHA:457284
Pituitary Apoplexy
Hypotension, Hyponatremia, Hypertension ORPHA:95613
Tetrasomy 9P
Pachygyria, Pericarditis, Oligospermia, Lissencephaly, Raynaud phenomenon, Polymicrogyria, Inappr... ORPHA:3310
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Smith-Lemli-Opitz Syndrome
Self-mutilation, Aggressive behavior, Periventricular heterotopia, Elevated 7-dehydrocholesterol,... OMIM:270400
Hepatocellular Carcinoma
Internal hemorrhage, Hypotension, Budd-Chiari syndrome, Hyponatremia, Hyperbilirubinemia, Emotion... ORPHA:88673
Bartter Syndrome, Type 3
Hypotension, Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hematemesis, Hypotension,... ORPHA:100076
Histidinemia
Histidinuria, Hyperhistidinemia, Hyperactivity ORPHA:2157
Hereditary Angioedema Type 1
Hypotension, Paresthesia ORPHA:100050
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Hyponatremia ORPHA:293978
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Syncope ORPHA:98849
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Elevated circulating creatinine concentration, Elevated circulating C-reacti... ORPHA:91500
Cog1-Cdg
Pulmonary arterial hypertension, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Temporal cor... ORPHA:263508
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal... ORPHA:289548
Oculoectodermal Syndrome
Hyperactivity, Transient ischemic attack, Hypertrophic cardiomyopathy OMIM:600268
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Brain atrophy ORPHA:447997
Prolactinoma
Hypotension ORPHA:2965
Plague
Arrhythmia, Hematemesis, Hypotension, Depression, Unsteady gait, Tachycardia, Anxiety ORPHA:707
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Internal hemorrhage ORPHA:244242
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Heart murmur, Tricuspid stenosis ORPHA:100079
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, Hyperpro... ORPHA:509
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypovolemia, Hypotension, Hyponatremia, Hypochloremia, Shock, Hyperkalemia ORPHA:90794
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Cataract 30, Multiple Types
OMIM:116300

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 Vim

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 Vim.

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

Title Journal IMPC Allele PubMed ID
Lack of vimentin impairs endothelial differentiation of embryonic stem cells. Scientific reports (August 2016) Vimtm1(KOMP)Vlcg PMC4969593

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MGI Allele Allele Type Produced
Vimtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Vimtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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