Not currently registered for phenotyping at IMPC

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

Gene Summary

toll-like receptor 3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tlr3 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 Tlr3 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration OMIM:613002
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930

The table below shows human diseases predicted to be associated to Tlr3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Immunodeficiency 20
Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Severe varicella zoster infec... OMIM:615707
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Wiskott-Aldrich Syndrome 2
Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Persistent Idiopathic Facial Pain
Paresthesia, Depression, Somatic sensory dysfunction, Anxiety, Impaired pain sensation ORPHA:398147
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Severe Combined Immunodeficiency, X-Linked
Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating IgE, Agammaglobuline... OMIM:300400
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Tracheopathia Osteoplastica
Cough, Wheezing, Dyspnea, Recurrent pneumonia OMIM:189961
Intellectual Developmental Disorder, X-Linked 63
Microcephaly, Anxiety OMIM:300387
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Huntington Disease-Like 1
Basal ganglia gliosis, Aggressive behavior, Dementia, Depression, Chorea, Anxiety, Dysmetria OMIM:603218
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Frontotemporal cerebral atrophy, Motor deteri... ORPHA:412066
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Impotence, Congeni... ORPHA:79230
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Chorea, Apathy, Basal ganglia calcification, Anxiety, Cognitive impairment,... OMIM:615483
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Striatal T2 hyperintensity, Abnormal corpus striatum morphology, Anxiety ORPHA:494541
Basal Ganglia Calcification, Idiopathic, 6
Dementia, Depression, Basal ganglia calcification, Cognitive impairment, Memory impairment, Chore... OMIM:616413
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Chorea, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Immunodeficiency 14B, Autosomal Recessive
Recurrent sinusitis, Decreased circulating IgA level, Candida esophagitis, Recurrent pneumonia, D... OMIM:619281
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections, ... OMIM:300291
Immunodeficiency 81
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Recurrent infecti... OMIM:619374
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Agammaglobulinemia, Recurrent respiratory infections OMIM:615214
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dementia, Depression, Progressive cerebellar ataxia, Cerebral cortical atroph... OMIM:604326
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Recurrent sinusitis, Recurrent upper respiratory tract infe... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Severe Epstein Barr virus infection, Decreased circulating antib... OMIM:308240
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Depression, Abnormal cerebral white matter morphology, Frontotemporal ... ORPHA:100070
Epilepsy, Progressive Myoclonic, 12
Depression, Ataxia, Anxiety, Dysmetria, Mental deterioration OMIM:619191
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... ORPHA:276556
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hyperuricemia,... OMIM:604367
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Huntington Disease-Like 2
Dementia, Depression, Chorea, Apathy, Irritability, Anxiety OMIM:606438
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ci... ORPHA:465508
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, Agammaglobulinemia OMIM:616941
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Persistent EBV viremia, Recurrent upper respiratory tract infections, Increased circulating antib... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Sepsis OMIM:267500
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan... ORPHA:552
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hypertriglyc... OMIM:608600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Chronic active Epstein-Barr virus infection, Decreased specific anti-polysa... OMIM:300853
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neo... OMIM:615294
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Dementia, Depression, Intracranial hemorrhage, Apathy, Recurrent subcortical inf... ORPHA:136
Raynaud-Claes Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Cerebral atrophy, Progressive cerebe... OMIM:300114
Ceroid Lipofuscinosis, Neuronal, 3
Dementia, Psychomotor deterioration, Cerebral atrophy, Concentric hypertrophic cardiomyopathy, An... OMIM:204200
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Neuropathy, Hereditary Sensory, Type Ie
Dementia, Apathy, Cerebral atrophy, Impulsivity, Irritability, Memory impairment, Osteomyelitis OMIM:614116
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Ataxia, Irritability, Cognitive impairment, Choreoathetosis OMIM:612126
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Cortical dysplasia, Abnormal fear/anxiety-related behavior, Microcephaly, Su... ORPHA:208441
Claustrophobia, Depression, Chorea, Agoraphobia, Emotional lability, Separation insecurity, Impul... ORPHA:66624
Chorea, Benign Hereditary
Chorea, Anxiety OMIM:118700
Spinocerebellar Ataxia 48
Gait ataxia, Depression, Chorea, Ataxia, Irritability, Anxiety, Dysmetria, Mental deterioration OMIM:618093
Wolfram-Like Syndrome
Dementia, Depression, Progressive cerebellar ataxia, Anxiety, Central diabetes insipidus ORPHA:411590
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Pneumonia, Abnormal circulating lipid concentration, In... ORPHA:2298
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Immunodeficiency 66
Meningitis, Sepsis, Defective T cell proliferation OMIM:618847
Parkinson Disease 6, Autosomal Recessive Early-Onset
Anxiety, Dementia, Depression OMIM:605909
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, He... OMIM:246200
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Chorea, Cerebral atrophy, Anxiety, Abnormal fear/a... ORPHA:309246
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Impaired T cell function, Decr... OMIM:607594
Geniospasm 1
Anxiety OMIM:190100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Aggressive behavior, Depression, Cerebral atrophy, Ataxia, Anxiety, Dysmetria... OMIM:615157
Huntington Disease
Mental deterioration, Aggressive behavior, Disinhibition, Depression, Chorea, Apathy, Bradyphreni... ORPHA:399
Myoclonus-Dystonia Syndrome
Panic attack, Personality disorder, Anxiety, Depression ORPHA:36899
Posterior Cortical Atrophy
Memory impairment, Inertia, Anxiety, Ataxia ORPHA:54247
Dystonia 11, Myoclonic
Agoraphobia, Anxiety, Depression OMIM:159900
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
Feingold Syndrome Type 2
Microcephaly, Anxiety, Emotional lability ORPHA:391646
Disinhibition, Aggressive behavior, Dementia, Self-mutilation of tongue and lips due to involunta... OMIM:200150
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperglycemia, Hyperinsulinemia OMIM:616214
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Cerebral calcification, ... OMIM:261600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Increased circulating IgE level, Recurrent upper respiratory ... ORPHA:277
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Susac Syndrome
Gait ataxia, Abnormal emotion/affect behavior, Apathy, Abnormal corpus callosum morphology, Somat... ORPHA:838
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Cerebral cortical atrophy, Reduction of neutrop... OMIM:266265
Adult-Onset Still Disease
Skin rash, Pericarditis, Abnormal circulating lipid concentration, Hepatomegaly, Meningitis, Hepa... ORPHA:829
Mahvash Disease
Palpitations, Pancreatic alpha-cell hyperplasia, Increased glucagon level, Recurrent pancreatitis... OMIM:619290
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Anxiety OMIM:602066
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Dementia, Depr... ORPHA:79264
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Hypopituitarism, Hy... ORPHA:90065
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Cholestasis, Pancreatic hyp... OMIM:615710
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm... ORPHA:97279
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Episodic hyp... ORPHA:681
Trisomy X
Cognitive impairment, Anxiety, Depression ORPHA:3375
Parkinsonism With Polyneuropathy
Diffuse cerebral atrophy, Anxiety, Depression OMIM:619279
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Hypocalcemia, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Familial Hemophagocytic Lymphohistiocytosis
Increased serum interferon-gamma level, Decreased circulating antibody level, Abnormality of seru... ORPHA:540
Inherited Creutzfeldt-Jakob Disease
Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Akinetic mutism, Dementia, Depression, C... ORPHA:282166
Necrotizing Enterocolitis
Peritonitis, Hypotension, Neonatal sepsis, Hyponatremia, Shock, Hyperglycemia, Bradycardia, Abnor... ORPHA:391673
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Gait ataxia, Disinhibition, Dementia, Depression, Anxiety, Impaired distal vi... OMIM:300623
Generalized Epilepsy With Febrile Seizures-Plus
Generalized cerebral atrophy/hypoplasia, Ataxia, Cortical dysplasia, Anxiety, Cognitive impairment ORPHA:36387
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Enlarged ovaries, Postprandial hyperglycemia, Impaired ... ORPHA:769
Autoinflammation With Infantile Enterocolitis
Meningitis, Reduced natural killer cell activity OMIM:616050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Social and occupational deterio... ORPHA:98818
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Increased cir... ORPHA:466677
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Cln5 Disease
Dysdiadochokinesis, Truncal ataxia, Aggressive behavior, Corpus callosum atrophy, Ataxia, Cerebra... ORPHA:228360
Usher Syndrome Type 1
Depression, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Anxiety ORPHA:231169
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Skin rash, Punctate vasculitis skin lesions, Gastrointestin... ORPHA:247691
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypogly... OMIM:220111
Kosaki Overgrowth Syndrome
Progressive neurologic deterioration, Anxiety, Depression OMIM:616592
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Hepatomegaly, Juvenile rheumatoid arthritis, Elevated circulating C-reac... ORPHA:85414
Xq28 (MECP2) duplication
Gait ataxia, Depression, Hypoplasia of the corpus callosum, Decreased circulating IgA level, Anxi... DECIPHER:45
Congenital Enterovirus Infection
Skin rash, Hyperammonemia, Hypotension, Cholestasis, Meningitis, Hepatitis, Encephalitis, Hypoalb... ORPHA:292
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Decrea... ORPHA:572
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Congestive heart failure, Irritability, Abnormal... ORPHA:3077
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Chorea, Congestive heart failure, Anxiety OMIM:606703
Antisynthetase Syndrome
Skin rash, Aortic regurgitation, Elevated circulating creatine kinase concentration, Telangiectas... ORPHA:81
Legionnaires Disease
Arrhythmia, Endocarditis, Pericarditis, Hypotension, Hyponatremia, Jaundice, Hepatitis, Encephali... ORPHA:549
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Cardiogenic shock, Reduced ejectio... ORPHA:563
Bardet-Biedl Syndrome 9
Irregular menstruation, Hyperglycemia OMIM:615986
Adiposis Dolorosa
Paresthesia, Depression, Telangiectasia of the skin, Anxiety, Memory impairment, Recurrent skin i... ORPHA:36397
Endocarditis, Pericarditis, Fungal meningitis, Unusual skin infection, Unusual CNS infection, Pul... ORPHA:449280
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus OMIM:609069
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Insulin resistance, Hypotension, Erectile dysfunction,... ORPHA:3452
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, A... OMIM:151660
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Inertia, Dementia, Dysesthesia, Depression, Hypotension, Ataxia, Hypertension, Cereb... ORPHA:93256
Felty Syndrome
Pericarditis, Chronic otitis media, Recurrent urinary tract infections, Synovitis, Hepatomegaly, ... ORPHA:47612
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Imp... ORPHA:2088
Rat-Bite Fever
Skin rash, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema, Septic ar... ORPHA:31205
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent otitis media, Panhypoga... OMIM:600802
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Impaired ADP-in... OMIM:608233
Thyrotoxic Periodic Paralysis
Palpitations, Thyrotoxicosis with toxic multinodular goiter, Graves disease, Hypomagnesemia, Post... ORPHA:79102
Perry Syndrome
Disinhibition, Depression, Apathy, Frontotemporal dementia, Anxiety, Inappropriate behavior, Suic... OMIM:168605
Immune-Mediated Necrotizing Myopathy
Palpitations, Skin rash, Congestive heart failure, Myocarditis, Elevated circulating creatine kin... ORPHA:206569
Skin rash, Pericarditis, Thyroiditis, Decreased circulating antibody level, Abnormality of the pe... ORPHA:99867
Beta-Ketothiolase Deficiency
Hyperammonemia, Hypotension, Hyperuricemia, Hypertension, Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Microcephaly, Anxiety OMIM:618906
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Chronic oral candidiasis, Partial IgA deficiency, Lack of T c... ORPHA:35078
Drug-Induced Lupus Erythematosus
Pericarditis, Increased blood urea nitrogen, Malar rash, Elevated circulating C-reactive protein ... ORPHA:231111
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Increased circula... OMIM:617241
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Elevated circulating creatine kinase conce... ORPHA:732
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia OMIM:601165
Pyruvate Carboxylase Deficiency
Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Peritonitis, Bronchiolitis, Thyroiditis, Pneumonia, Biliary tract abnormality, Abnormality of the... ORPHA:2552
Pigmented Nodular Adrenocortical Disease, Primary, 2
Depression, Hypertension, Emotional lability, Anxiety, Mental deterioration OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Depression, Hypertension, Emotional lability, Anxiety, Mental deterioration OMIM:610489
Polyarteritis Nodosa
Pericarditis, Cardiomyopathy, Hypertension, Elevated circulating C-reactive protein concentration... ORPHA:767
Isolated Permanent Neonatal Diabetes Mellitus
Hypovolemia, Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Red... ORPHA:99885
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia, Glycosuria ORPHA:2089
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Abnormality of serum cytokine level, Pulmonary ... ORPHA:464343
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperl... OMIM:608612
Short Syndrome
Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Spider hemangioma, Gastrointestinal hemorrh... ORPHA:2137
Granulomatosis With Polyangiitis
Skin rash, Pericarditis, Abnormality of the hypothalamus-pituitary axis, Cerebral ischemia, Eleva... ORPHA:900
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormal serum interleukin level, Abnormality of tumor necro... ORPHA:70578
Young-Onset Parkinson Disease
Dementia, Depression, Apathy, Panic attack, Impulsivity, Anxiety, Cognitive impairment, Frontal l... ORPHA:2828
Peritonitis, Acute colitis, Splenic abscess, Uveitis, Pneumonia, Hypoglycemia, Cholestasis, Ulcer... ORPHA:810
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bipolar affective disorder, Depression, Progressive gait ataxia, Hypoplasia of the corpus callosu... ORPHA:329308
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Depression, Pneumonia, Ataxia, Subcortical cerebral atrophy, Cerebral corti... ORPHA:309288
Scrub Typhus
Skin rash, Hypotension, Meningitis, Hyperhidrosis, Encephalitis, Anterior uveitis, Splenomegaly, ... ORPHA:83317
American Trypanosomiasis
Skin rash, Arrhythmia, Hepatomegaly, Splenomegaly, Congestive heart failure, Encephalitis, Myocar... ORPHA:3386
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Vasculitis, Pericarditis, Orchitis, Uveitis, Conjunctivitis, Erysipelas, ... ORPHA:32960
Q Fever
Osteomyelitis, Endocarditis, Pericarditis, Increased circulating antibody level, Abnormal left ve... ORPHA:781
Tyrosinemia, Type I
Cirrhosis, Gastrointestinal hemorrhage, Hypertyrosinemia, Hepatocellular carcinoma, Hypophosphate... OMIM:276700
Pyruvate Dehydrogenase E2 Deficiency
Eye of the tiger anomaly of globus pallidus, Dementia, Iron accumulation in globus pallidus, Anxi... ORPHA:79244
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Recurrent upper respiratory tract infections, Premature adrenarche, Central hypothy... ORPHA:293987
Peritonitis, Pericarditis, Pneumonia, Jaundice, Myocarditis, Spontaneous abortion, Hepatic granul... ORPHA:533
Acth-Independent Macronodular Adrenal Hyperplasia
Depression, Hypertension, Emotional lability, Anxiety, Mental deterioration OMIM:219080
Pericarditis, Pneumonia, Increased circulating IgG level, Elevated circulating C-reactive protein... ORPHA:1304
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent en... ORPHA:331206
Hypohidrosis, Intestinal bleeding, Pericarditis, Myelitis, Right ventricular failure, Uveitis, El... ORPHA:801
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Pneumonia, Ataxia, Emotional lability, Aqueductal stenosis, Somatic ... ORPHA:1136
Acute Lung Injury
Increased circulating interleukin 6, Abnormality of serum cytokine level, Abnormality of tumor ne... ORPHA:178320
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Suicidal ideation, Anxiety, Depression ORPHA:98784
Microscopic Polyangiitis
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Increased inflamma... ORPHA:727
Usher Syndrome
Depression, Abnormal cardiovascular system physiology, Ataxia, Cerebral cortical atrophy, Anxiety... ORPHA:886
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Hypocalcemia, Hyperkalemia, Severe viral infection, Hypertensive crisis, Pneumonia... ORPHA:544482
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Increased circulating IgG1 level, Pericarditis, Interstitial... ORPHA:449395
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Hypothyroidism, Hyperuricemia, Jaundice, Arthritis, Abnormality of exocrine pa... ORPHA:93111
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Hypotension, Pancreatitis, Myocarditis ORPHA:188
Systemic Lupus Erythematosus, Susceptibility To, 6
Spontaneous abortion, Malar rash, Pericarditis, Arthritis OMIM:609939
Familial Mediterranean Fever
Peritonitis, Pericarditis, Orchitis, Elevated circulating amyloid A, Hepatomegaly, Meningitis, Er... OMIM:249100
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Epistaxis, Sinusitis, Myocarditis, Recurrent pharyngitis,... ORPHA:3099
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestasis, Hepatitis, Cholestatic liver disease, Portal hypertension ORPHA:440713
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Gait ataxia, Anxiety, Depression OMIM:613077
Mixed Connective Tissue Disease
Skin rash, Pericarditis, Gastrointestinal hemorrhage, Hepatomegaly, Meningitis, Xerostomia, Kerat... ORPHA:809
Thymic Tumor
Pericarditis, Neuroendocrine neoplasm, Neoplasm of the thymus, Dysgammaglobulinemia, Cardiac arrest ORPHA:100100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Calcinosis, Hy... OMIM:248370
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Enlarged ovaries, Insul... ORPHA:508
Mcleod Syndrome
Personality disorder, Depression, Atrial fibrillation, Anxiety, Dilated cardiomyopathy, Cardiomyo... OMIM:300842
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Hepatitis, Tubulointerst... ORPHA:139402
Dystonia-Aphonia Syndrome
Cognitive impairment, Cerebral atrophy, Anxiety ORPHA:412217
Hemophagocytic Lymphohistiocytosis, Familial, 2
Meningitis, Encephalitis, Reduced natural killer cell activity OMIM:603553
Dystonia 26, Myoclonic
Anxiety, Depression OMIM:616398
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Increased circulating ferritin concentration, Nephritis, Inc... ORPHA:2442
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Coccidioidal meningitis, Peritonitis, Skin rash, Pericarditis, Abnormal sperm morphology, Pneumon... ORPHA:228123
Atypical Werner Syndrome
Ovarian neoplasm, Decreased fertility, Delayed puberty, Secondary amenorrhea, Type II diabetes me... ORPHA:79474
Increased circulating ferritin concentration, Decreased circulating copper concentration, Abnorma... ORPHA:48818
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersensit... OMIM:242700
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Vasculitis, Endocarditis, Increased inflammatory response, Recurrent intrapulmonary he... ORPHA:183
Juvenile Dermatomyositis
Skin rash, Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Angina pec... ORPHA:93672
Von Hippel-Lindau Disease
Palpitations, Pancreatic endocrine tumor, Arrhythmia, Pancreatic cysts, Cardiomyopathy, Abnormal ... ORPHA:892
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Congestive heart failure, Pericarditis, Splenomegaly ORPHA:163596
Systemic Sclerosis
Hypohidrosis, Osteomyelitis, Intestinal bleeding, Pericarditis, Right ventricular failure, Nail b... ORPHA:90291
Porphyria Due To Ala Dehydratase Deficiency
Apathy, Anxiety, Abnormal fear/anxiety-related behavior, Depression ORPHA:100924
Immunodeficiency 58
Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decreased specific a... OMIM:618131
Peritonitis, Pericarditis, Melena, Myocarditis, Sinusitis, Endocarditis, Splenic abscess, Epistax... ORPHA:73263
Primary Sjögren Syndrome
Thyroiditis, Optic neuritis, Chronic hepatitis, Lymphocytic interstitial pneumonia, Myositis, Cho... ORPHA:289390
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Decreased circulating IgG2 level, Recurrent viral ... OMIM:242840
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Congestive heart failure, Hypoalbuminemia, Liver abscess ORPHA:67
Behçet Disease
Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Pulmonary embolism, Cerebral ischemia, ... ORPHA:117
Hair-pulling, Emotional lability, Head-banging, Cerebral cortical atrophy, Socially inappropriate... ORPHA:2388
Peritonitis, Osteomyelitis, Cutaneous abscess, Endocarditis, Pericarditis, Scleritis, Lymphadenit... ORPHA:31204
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Keratoconjunctivitis s... OMIM:617321
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Biliary atresia, Glycosuria, Pulmonic stenosis, Pancreatic hypoplasia, Absent gall... OMIM:600001
Colchicine Poisoning
Cardiogenic shock, Hypocalcemia, Hypophosphatemia, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Familial Mediterranean Fever
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Orchitis, Meningitis, Erysipelas, Myocardial in... ORPHA:342
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Recurrent... OMIM:600903
Giant Cell Arteritis
Arrhythmia, Pericarditis, Epistaxis, Sudden cardiac death, Meningitis, Hyperhidrosis, Cerebral is... ORPHA:397
Wiskott-Aldrich Syndrome
Recurrent herpes, Recurrent pneumonia, Increased circulating IgE level, Decreased specific anti-p... OMIM:301000
Skin rash, Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhag... ORPHA:509
Congenital Heart Defects, Multiple Types, 7
Pulmonic stenosis, Anxiety, Depression OMIM:618780
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Increased circulating IgE level, Increased c... ORPHA:449432
Kawasaki Disease
Skin rash, Arrhythmia, Pericarditis, Cheilitis, Meningitis, Jaundice, Hepatitis, Conjunctivitis, ... ORPHA:2331
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Large vessel vasculitis, Uveitis, Conju... ORPHA:728
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Pituitary adenoma, Abnormal fear/anxiety-related behavior, Emotional lability OMIM:219090
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Congestive heart failure, Aspiration pneumonia, Pulmonary arterial hypertension, ... ORPHA:444077
African Trypanosomiasis
Pericarditis, Optic neuritis, Jaundice, Myocarditis, Spontaneous abortion, Abnormality of renin-a... ORPHA:3385
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Insulin-resistant diabetes mellitus, Type I diabetes mellitus, Reduced pancreatic b... OMIM:226980
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... OMIM:167800
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Vasculitis in the skin, Hepatomegaly, Meningitis, Enlargement of parotid glan... ORPHA:50918
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Recurrent infections, Decreased specific anti-polysaccharide antibody l... OMIM:614576
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:603909
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Aortic regurgitation, Recurrent urina... ORPHA:29207
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Severe varicella zoster infectio... OMIM:618213
Sweet Syndrome
Increased circulating interleukin 6, Abnormal serum interleukin level, Abnormality of tumor necro... ORPHA:3243
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration OMIM:613002
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... OMIM:612132
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:66628
Arrhythmia, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Myocardial infarction, M... ORPHA:221
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Bundle branch block, Increased circulating IgE level, Polysplenia, Cardiomyopathy... ORPHA:373
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:179494
Arterial Tortuosity Syndrome
Esophagitis, Hypertension, Telangiectasia of the skin, Myocardial infarction, Congestive heart fa... ORPHA:3342
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Cardiac conduction abnormality, Self-injurious behavior, Agoraphobia, Pneumo... ORPHA:353281
Blau Syndrome
Pericarditis, Iritis, Uveitis, Synovitis, Hypertension, Nongranulomatous uveitis, Eczema, Erythem... OMIM:186580
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Impaired T cell function, Abnormal lymphocyte physiology, Bone marrow hypoc... ORPHA:1830
Pericardial Effusion, Chronic
Constrictive pericarditis OMIM:260900
Blau Syndrome
Skin rash, Iridocyclitis, Pericarditis, Large vessel vasculitis, Retrobulbar optic neuritis, Post... ORPHA:90340
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Abnormal circulating cholesterol concent... OMIM:215140
Tetrasomy 9P
Infertility, Cryptorchidism, Pericarditis, Oligospermia, Biliary atresia, Recurrent urinary tract... ORPHA:3310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Cardiac conduction abnormality, Self-injurious behavior, Agoraphobia, Pneumo... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Cardiac conduction abnormality, Self-injurious behavior, Agoraphobia, Pneumo... ORPHA:353277
Beckwith-Wiedemann Syndrome
Cryptorchidism, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Pseudohypoparathyroidis... ORPHA:116
Orotic Aciduria
Impaired T cell function OMIM:258900
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia OMIM:267000
Aymé-Gripp Syndrome
Cryptorchidism, Pericarditis, Breast hypoplasia ORPHA:1272
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Elevated circulating growth hormone concentration, Aplasia of the ovary, Hyperinsulinemia, Insuli... ORPHA:79318
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Arrhythmia, Myocarditis ORPHA:93317
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Arrhythmia, Polysplenia, Cardiomyopathy, Hepatomegaly, Pulmonic stenosis, Splenom... OMIM:312870
Spondylometaphyseal Dysplasia, Sedaghatian Type
Arrhythmia, Myocarditis OMIM:250220
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Ayme-Gripp Syndrome
Pericarditis OMIM:601088
Digeorge Syndrome
Impaired T cell function, Recurrent infections OMIM:188400
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930


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 Tlr3

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 Tlr3.

No publications found that use IMPC mice or data for Tlr3.

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MGI Allele Allele Type Produced
Tlr3tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tlr3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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