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 granulocyte number Vimtm2Cba HOM Early adult 1.48×10-05
increased blood uric acid level Vimtm2Cba HOM Early adult 5.12×10-08

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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
Azotemia, Familial
Azotemia OMIM:109160
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia ORPHA:510
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... OMIM:232800
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ataxia, Hyperactivity, Cerebellar atrophy OMIM:613402
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Neutropenia OMIM:617056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia OMIM:613092
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Depression, Men... OMIM:605361
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia ORPHA:543
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232600
Xanthinuria, Type Ii
Hyperxanthinemia, Increased circulating hypoxanthine concentration, Hypouricemia OMIM:603592
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Hyperactivity... ORPHA:248111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Cerebellar atrophy OMIM:618090
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia OMIM:613845
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Hyperactivity, Impulsivity, Polymicrogyria, Lissencephaly, Aggressive be... OMIM:604317
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:3222
Cystinuria
Hyperuricemia ORPHA:214
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria OMIM:604213
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Anemia, Hyperuricemia, Hyperammonemia OMIM:246450
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Elevated circulating gamma-aminobutyric ... OMIM:271980
Aminoacylase 1 Deficiency
Hyperactivity, Cerebral atrophy, Cerebellar atrophy OMIM:609924
Cln5 Disease
Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the central nervous system, Hyp... ORPHA:228360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Inability to walk, Elevated circulating creatine kinase conce... OMIM:613155
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Ataxia, Hyperglycinuria, Hyperactivity, Hyperprolinemia, Aggressiv... OMIM:239500
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Coach Syndrome 2
Hypertension, Cerebellar vermis hypoplasia, Elevated circulating creatinine concentration OMIM:619111
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Cognitive impairment, Elevated circulating creati... ORPHA:370022
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration OMIM:161900
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia ORPHA:261222
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity, Cerebellar hypoplasia ORPHA:521258
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Ataxia, Hyperactivity, Cerebral atrophy, Mental deterior... OMIM:615924
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypopl... OMIM:616531
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Apathy, Raynaud phenomenon, Depression, Hypertension, Cognitive impairment, Anxiety, Retinal neov... ORPHA:247691
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia ORPHA:134
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Ataxia, Dysmetria, Depression, Anxiety, Hy... ORPHA:93256
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia, Splenomegaly ORPHA:79083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Cerebella... OMIM:613153
Landau-Kleffner Syndrome
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... ORPHA:98818
Optic Atrophy 11
Ataxia, Hyperactivity, Brain atrophy, Dysmetria, Cerebellar hypoplasia OMIM:617302
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Self-mutilation, Depression, Anxiety, Gait disturbance, Myocardial infarction, Cerebella... ORPHA:457240
Hypouricemia, Renal, 1
Hypouricemia OMIM:220150
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity, Cerebellar hypoplasia OMIM:300979
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar vermis hypopla... ORPHA:101070
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Hyperuricemia, Anemia ORPHA:20
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hyperuricemia OMIM:300322
Gomez-Lopez-Hernandez Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Depression, Rhombencephalos... OMIM:601853
Preeclampsia
Hypertension, Elevated systolic blood pressure, Elevated circulating creatinine concentration, El... ORPHA:275555
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... ORPHA:94093
Infantile Neuroaxonal Dystrophy
Ataxia, Impulsivity, Hyperactivity, Cerebellar gliosis, Mental deterioration, Gait disturbance, P... ORPHA:35069
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Cerebral cortical atrophy, Hyperactivity, Aggressive behavior OMIM:300983
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Impulsivity, Hyperactivity OMIM:617113
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Hyperactivity, Cerebral atrophy, Mental deterioration, Anxiety, Corpus... ORPHA:168491
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hyperuricemia OMIM:142625
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Cerebellar vermis atrophy, Hyperactivity, Progressive language deterioration, Self-mutila... ORPHA:163681
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Impulsivity, Cerebral atrophy, Depression, Chorea, Polymicrogyria ORPHA:88616
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411543
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... ORPHA:90041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Cerebellar hypoplasia... OMIM:615181
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Hyperactivity, Brain atrophy, Corpus callosum atrophy, Aggressive beha... ORPHA:369939
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Elevated circulating creatinine concentration ORPHA:567544
Severe Neurodegenerative Syndrome With Lipodystrophy
Neuronal loss in central nervous system, Ataxia, Hyperactivity, Cerebral atrophy, Progressive psy... ORPHA:363400
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Gait ataxia, Cerebellar atrophy, Telangiectasia OMIM:604391
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Glycogen Storage Disease Ib
Hyperlipidemia, Neutropenia, Hyperuricemia, Splenomegaly OMIM:232220
Glycine Encephalopathy
Hyperglycinuria, Impulsivity, Hyperactivity, Hyperglycinemia, Aggressive behavior, Irritability OMIM:605899
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration, Aggr... OMIM:612736
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Perisylvian polymicrogyria, Ataxia, Hyperlysinemia, Hypervali... OMIM:615673
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:203800
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cerebellar vermis atrophy, Hyperactivity, Polymicrogyria, Gait ataxia, Aggressive behavior, Emoti... OMIM:300354
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... OMIM:615960
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Falls, Aggressive behavior, Personality disorder ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... OMIM:619827
Neurodegeneration With Brain Iron Accumulation 2B
Impulsivity, Cerebral atrophy, Dysmetria, Hyperactivity, Mental deterioration, Dysdiadochokinesis... OMIM:610217
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Hypotension, Attention deficit hyperactivity disorder, P... ORPHA:369873
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... OMIM:617182
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenyla... OMIM:261600
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Elevated circulating creatinine concentration OMIM:616733
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Chorea, Athetosis, Aggressive behavior ORPHA:382
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity,... ORPHA:485350
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Cerebral atrophy, Self-mutilation, Gait ataxia,... OMIM:103050
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability, Simplified gyral pattern, Enlarged cerebellum OMIM:620047
Acute Adrenal Insufficiency
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... ORPHA:95409
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... ORPHA:439232
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Impulsivity, Cerebral atrophy, Hyperactivity, Chorea, Gait ataxia, Aggressive ... ORPHA:500180
C3 Glomerulopathy
Hypertension, Elevated circulating creatinine concentration ORPHA:329918
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Cerebral cortical hemiatrophy, Cognitive impairment, Memory imp... ORPHA:1929
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Hypertriglyceridemia, Chronic neutropenia,... ORPHA:79259
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar verm... OMIM:617751
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Conjunctival telangiectasia, Neurodegeneration, Unsteady gait, Cerebellar atrophy, Telang... OMIM:615919
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Retrocerebellar cyst, Self-mutilation, Cerebellar hypoplasia, Cerebellar vermis hy... OMIM:300486
Molybdenum Cofactor Deficiency, Complementation Group C
Hypertaurinemia, Hypocystinemia, Hypouricemia OMIM:615501
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Decreased serum creatinine, Arrhythmia ORPHA:54057
Glycogen Storage Disease Ia
Hyperlipidemia, Hyperuricemia OMIM:232200
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated circulating creatinine concent... ORPHA:542323
Addison Disease
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... ORPHA:85138
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Transient hyperphenylalaninemia, Choreoathetosis, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Cerebral cortical atrophy, Impulsivity OMIM:301008
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Hypomagnesemia 3, Renal
Hypomagnesemia, Hyperuricemia OMIM:248250
Relapsing Fever
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Increased total ... ORPHA:91547
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter ORPHA:411515
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Papillorenal Syndrome
Gliosis, Hypertension, Chiari type I malformation, Elevated circulating creatinine concentration OMIM:120330
Lethal Ataxia With Deafness And Optic Atrophy
Abnormal erythrocyte enzyme level, Hypouricemia ORPHA:1187
Perry Syndrome
Depression, Apathy, Hypotension, Dementia ORPHA:178509
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased serum creatinine, Hyponatremia, Decreased circulating... OMIM:300539
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia OMIM:300661
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Hereditary Xanthinuria
Hyperxanthinemia, Hypouricemia ORPHA:3467
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Cognitive impairment, Gait disturbance, Somatic sen... ORPHA:43
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
47,Xyy Syndrome
Impulsivity, Hyperactivity, Oligospermia, Dysgenesis of the cerebellar vermis, Attention deficit ... ORPHA:8
Nephronophthisis 2
Pulmonary insufficiency, Elevated circulating creatinine concentration, Hyperkalemia, Hypertension OMIM:602088
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Argininemia
Hyperactivity, Hyperammonemia, Hyperargininemia, Diaminoaciduria, Cerebellar atrophy, Spastic gai... OMIM:207800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Orthostatic hypotension, Tachycardia, Elevated circulating creatin... OMIM:223900
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
Glycogen Storage Disease Ic
Hyperlipidemia, Hyperuricemia OMIM:232240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Cognitive impairment, Elevated circulating creatin... OMIM:235400
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal cardiovascular system physiology, Decreased serum creatinine, Arterial occlusion ORPHA:289601
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Impulsivity, Frontal cortical atrophy, Hyperactivity, Pulmonic stenosis, Anxiety, Aggress... OMIM:616977
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Pulmonic stenosis, Anxiety, Chorea, Heart murmur, Attention deficit hyperactivity ... OMIM:617600
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hyperuricemia ORPHA:93111
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Abnormal pons morphology, Hyperactivity, Aggressive behavior ORPHA:85327
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... OMIM:212138
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Cockayne Syndrome
Hyperuricemia, Splenomegaly ORPHA:191
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Tachycardia, Myocarditis, Hypot... ORPHA:36234
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Hypouricemia, Hemol... OMIM:277900
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, O... ORPHA:85450
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic syncope, Elevated ci... ORPHA:230
Acute Interstitial Pneumonia
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... ORPHA:79126
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Hypertension, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Eisenmenger Syndrome
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Brain a... ORPHA:97214
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Elevated circulating creatinine concentration ORPHA:90060
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Hypovolemia, Elevated circulating creatine kinase concentration, Tac... ORPHA:99826
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Hemorrhagic Fever-Renal Syndrome
Melena, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, Shock, Elev... ORPHA:340
Thrombotic Thrombocytopenic Purpura, Hereditary
Myocardial infarction, Transient ischemic attack, Elevated circulating creatinine concentration, ... OMIM:274150
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia OMIM:252160
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Chorea, Athetosis, Abnormal circulating creatine concentr... ORPHA:52503
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Abnormal circulating fatty-acid concentration, Dysmetri... ORPHA:139396
Cryoglobulinemia, Familial Mixed
Hypertension, Elevated circulating creatinine concentration OMIM:123550
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Elevated circulating C-reactive protein concentration, Increased blood urea... ORPHA:49041
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension ORPHA:79455
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Hypotension, Shock, Paresthesia, Irritability ORPHA:33475
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Myocardial infarction, Elevated circulating creatinine concentration, Unconjugated h... ORPHA:90038
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Ataxia, Hyperactivity, Self-mutilation, Dysgenesis of the... OMIM:213300
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hyperactivity, Aggressive behavior, Progressive neurologic deterio... OMIM:252920
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Whipple Disease
Ataxia, Depression, Myocarditis, Hypotension, Myocardial infarction, Hyponatremia, Gastrointestin... ORPHA:3452
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Depression, Anxiety, Arrhythmia, Hypotension, Hyperphosphatemia, Em... ORPHA:428
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... ORPHA:247585
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia OMIM:252150
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Elevated circulating creatinine concentration, Reduced sperm motility ORPHA:730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Elevated circulating creatine kinase concentration, Cerebellar hypoplasia, Partial ab... OMIM:613150
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Choreoacanthocytosis
Frontal cortical atrophy, Mental deterioration, Chorea, Falls, Emotional lability, Bradyphrenia, ... ORPHA:2388
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension, Unsteady gait OMIM:618480
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Serotonin Syndrome
Mental deterioration, Anxiety, Tachycardia, Hypotension, Hypertension, Irritability ORPHA:43116
Legius Syndrome
Hyperactivity, Cognitive impairment, Pulmonic stenosis, Paroxysmal atrial tachycardia, Attention ... ORPHA:137605
Congenital Hypothyroidism
Depression, Anxiety, Arrhythmia, Hypotension, Paresthesia, Hypertension ORPHA:442
Ethylene Glycol Poisoning
Ataxia, Hypocalcemia, Euphoria, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillatio... ORPHA:31826
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... OMIM:145600
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Congenital Enterovirus Infection
Hyperammonemia, Myocarditis, Hypotension, Hypoalbuminemia, Cardiomyopathy, Irritability ORPHA:292
Oligomeganephronia
Hypertension, Elevated circulating creatinine concentration ORPHA:2260
Poliomyelitis
Inability to walk, Hypovolemic shock, Low self esteem, Hypotension, Paresthesia, Hypertension, Ir... ORPHA:2912
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Hyperactivity, Self-mutilation, Postural hypotension with compensatory tachyc... OMIM:256800
Legionnaires Disease
Ataxia, Arrhythmia, Myocarditis, Hypotension, Hyponatremia, Pericarditis ORPHA:549
Mastocytosis
Telangiectasia of the skin, Arrhythmia, Hypotension, Hypercalcemia, Gastrointestinal hemorrhage, ... ORPHA:98292
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:556037
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:556030
Alexander Disease
Ataxia, Self-injurious behavior, Depression, Sudden cardiac death, Chorea, Hypotension, Gait dist... ORPHA:58
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:203400
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Athetosis, Choreoathetosis, Emotional lability, Irritability OMIM:608643
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Nipah Virus Disease
Hypotension ORPHA:99825
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Hyperactivity, Diffuse cerebral atrophy, Choreoathetosis, Cerebellar atr... ORPHA:1934
Neuroendocrine Tumor Of The Colon
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Facial tel... ORPHA:100080
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia ORPHA:91354
Gitelman Syndrome
Ataxia, Hypokalemia, Hypomagnesemia, Palpitations, Increased circulating renin level, Hypotension... OMIM:263800
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Hyperactivity, Depression, Mental deterioration, Neurodegeneration, Gait distur... OMIM:234200
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Hypotension, Gastrointestinal hemorrhage, Epistaxis ORPHA:99828
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Elevated circulating creatine kinase concentration, Cerebellar hypoplasia, Polymicrogyria, Type I... OMIM:236670
Neuroendocrine Tumor Of The Rectum
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100082
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Elevated circulating creatinine concentration OMIM:617478
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:177735
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Dysmetria, Cerebellar vermis hypoplasia, Cerebellar dysplas... ORPHA:98889
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperkalemia, Hyponatremia OMIM:264350
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... ORPHA:173
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogenic shock, Hypotension,... ORPHA:97287
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Adult Acute Respiratory Distress Syndrome
Vasculitis, Shock, Hypotension ORPHA:70578
Pauci-Immune Glomerulonephritis
Arteritis, Pulmonary hemorrhage, Elevated circulating creatinine concentration, Small vessel vasc... ORPHA:93126
Multiple Myeloma
Paresthesia, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Impulsivity, Hyperactivity, Trophic limb changes, Self-mutilation, Abnormal e... ORPHA:642
Yellow Fever
Supraventricular arrhythmia, Hyperbilirubinemia, Hematemesis, Elevated circulating creatine kinas... ORPHA:99829
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Mental deterioration, Anxiety, Myocarditis... ORPHA:319213
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Ataxia, Cerebral cortical atrophy, Hyperactivity, Dysmetria, Hippocampal atroph... OMIM:614756
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration ORPHA:79155
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Hypotension, Arrhythmia, Irritability ORPHA:2135
Infant Botulism
Hypotension, Cardiac arrest, Hypertension, Hyponatremia ORPHA:178478
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Hypotension, Hyponatremi... ORPHA:427
Mercury Poisoning
Hypertension, Hypokalemia, Tachycardia, Hypotension ORPHA:330021
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Staphylococcal Necrotizing Pneumonia
Shock, Elevated circulating C-reactive protein concentration, Hypotension ORPHA:36238
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, P... ORPHA:449395
Neuroendocrine Tumor Of Stomach
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... ORPHA:100075
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Necrotizing Enterocolitis
Hypotension, Shock, Hyponatremia, Bradycardia ORPHA:391673
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational deterioration, Impul... ORPHA:353281
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Acute Liver Failure
Ataxia, Pain insensitivity, Euphoria, Hyperammonemia, Depression, Intracranial hemorrhage, Hypote... ORPHA:90062
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Systemic Capillary Leak Syndrome
Hypotension, Pericarditis, Arrhythmia, Myocarditis ORPHA:188
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Hypotension ORPHA:98850
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Scrub Typhus
Hypotension, Myocarditis ORPHA:83317
Congenital Isolated Acth Deficiency
Hypotension, Hyponatremia ORPHA:199296
Aa Amyloidosis
Hypotension ORPHA:85445
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension OMIM:263400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Tricuspid regurgitation, Left-t... OMIM:619534
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Exercise-Induced Malignant Hyperthermia
Ataxia, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depression, Elevated c... ORPHA:466650
Familial Glucocorticoid Deficiency
Hypotension, Hyponatremia, Azoospermia, Hypertrophic cardiomyopathy, Hyperkalemia ORPHA:361
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Emotional lability, Bundle ... ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Elevated circulating creatine kinase concentration, Cerebellar hypoplasia, Polymicrog... OMIM:253280
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Increased circulating renin level, Hyponatremia, Azoospermia, Hyperkalemia ORPHA:90791
Lysosomal Acid Lipase Deficiency
Cognitive impairment, Hypovolemia, Hypotension, Hypertriglyceridemia, Psychomotor deterioration, ... ORPHA:275761
Sepsis In Premature Infants
Tachycardia, Elevated circulating C-reactive protein concentration, Hypotension, Bradycardia ORPHA:90051
Hepatocellular Carcinoma
Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Hypotension, Hypoalbuminemia, Hyponatremia... ORPHA:88673
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100077
Pituitary Apoplexy
Hypotension, Hypertension, Hyponatremia ORPHA:95613
Bartter Syndrome, Type 3
Hypotension, Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Duodenal Neuroendocrine Tumor
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... ORPHA:100076
Hereditary Angioedema Type 1
Paresthesia, Hypotension ORPHA:100050
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Hyponatremia ORPHA:293978
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... ORPHA:289548
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Hypokalemia, Palpitations, Ventricular arrhythmia, Hypotension, Hype... ORPHA:91347
Prolactinoma
Hypotension ORPHA:2965
Hellp Syndrome
Internal hemorrhage, Cerebral hemorrhage, Hypotension ORPHA:244242
Histidinemia
Hyperhistidinemia, Histidinuria, Hyperactivity ORPHA:2157
Plague
Hematemesis, Depression, Anxiety, Arrhythmia, Tachycardia, Hypotension, Unsteady gait ORPHA:707
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Palpitations, Hypotension, Heart murmur ORPHA:100079
Leptospirosis
Pulmonary hemorrhage, Hyperproteinemia, Arrhythmia, Retinal hemorrhage, Hypotension, Subconjuncti... ORPHA:509
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypovolemia, Hypotension, Shock, Hyponatremia, Hypochloremia, 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
Vimtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Vimtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Vimtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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