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Gene: Tlr9 MGI:1932389

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
toll-like receptor 9
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Tlr9 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tlr9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 20
Severe varicella zoster infection, BCGitis, Recurrent otitis media, Recurrent viral upper respira... OMIM:615707
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation OMIM:614493
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob... OMIM:300400
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... OMIM:137100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Recurrent ... OMIM:619281
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 81
Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced natural ki... OMIM:619374
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Antinuclear antibody positivity, Recurrent respiratory infections... OMIM:613495
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati... OMIM:615206
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Abnormal natu... OMIM:613101
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Autoimmune Lymphoproliferative Syndrome, Type Iii
Anticardiolipin IgG antibody positivity, Recurrent upper respiratory tract infections, Recurrent ... OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Infectious encephalitis, D... OMIM:308240
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... OMIM:617638
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... OMIM:615615
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent otitis m... OMIM:618944
C1Q Deficiency 1
Recurrent infections, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... OMIM:300635
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:607594
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Meningitis OMIM:616050
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Incre... ORPHA:277
Acute Lung Injury
Increased circulating interleukin 6 concentration, Sepsis, Abnormal circulating cytokine concentr... ORPHA:178320
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Partial absence ... OMIM:620430
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... ORPHA:411593
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Immunodeficiency 96
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti... OMIM:619774
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Immunodeficiency 70
Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle OMIM:618969
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Autoimmunity, Decreased circulating a... ORPHA:169079
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle... ORPHA:319552
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne OMIM:604416
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Bronchiectasis OMIM:608184
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, I... ORPHA:158061
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... OMIM:618108
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Autoimmunity, Increased circulating antibody level, Recurrent i... OMIM:614470
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Impaired memory B cell g... OMIM:308230
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... ORPHA:95427
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic an... OMIM:618495
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Chronic mu... ORPHA:572
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Chronic mucocutaneous candid... ORPHA:98813
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Wiskott-Aldrich Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased specific anti-polysa... OMIM:301000
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive... ORPHA:83471
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent otitis media, Impaired ADP-induced platelet aggregation, Recurrent... OMIM:608233
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 6 concentration, Antinuclear antibody positivity, Increased cir... OMIM:620514
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis OMIM:614878
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferatio... OMIM:600802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:331206
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Panniculitis, Complete or near-comple... OMIM:301081
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... OMIM:243150
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... OMIM:616433
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration OMIM:615010
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, Meningitis, Infectious encephalitis OMIM:603553
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Reduced delayed hypersensitivity, Pyoderma, Recu... OMIM:242700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent otitis media, Increased circul... OMIM:243700
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Sclerosing cholangitis, Glomeru... ORPHA:2137
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid factor positive ORPHA:85435
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Recurrent infection of the gastroint... ORPHA:911
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... ORPHA:79124
Shigellosis
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Acut... ORPHA:810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Selective Igm Deficiency
Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent bronchitis, Autoimmune thrombocytop... ORPHA:331235
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:616005
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis OMIM:620133
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Sweet Syndrome
Abnormal circulating interleukin concentration, Recurrent infections, Increased circulating inter... ORPHA:3243
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ... OMIM:613179
Cyclic Neutropenia
Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Sinusitis, Abdominal p... ORPHA:2686
Interstitial Cystitis
Autoimmunity, Abnormality of tumor necrosis factor secretion ORPHA:37202
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Autoimmunity,... OMIM:615952
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constrictive pericarditis, ... ORPHA:67
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... ORPHA:73263
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Immunodeficiency 97 With Autoinflammation
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Colitis, Enterocolitis, Abdominal pain, ... OMIM:619802
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Recurrent upper respiratory tract infections, Rec... ORPHA:183675
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic ... ORPHA:231154
Hermansky-Pudlak Syndrome 1
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia OMIM:203300
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Peritonitis, Pancreatitis, Abdominal pain, Co... ORPHA:90038
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... ORPHA:3261
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis OMIM:301108
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... OMIM:619381
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Autoimmunity ORPHA:363558
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Decreased T cell activation, Defective T cell proliferation, Can... OMIM:618213
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... ORPHA:309031
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Psoriasis-Related Juvenile Idiopathic Arthritis
Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion ORPHA:85436
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Decreased specific anti-polysaccharide antibody level, Impaired T cell func... OMIM:614576
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... OMIM:617718
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... ORPHA:2908
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:66628
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:179494
Sepsis In Premature Infants
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Acute colitis, Gastrointestinal infarctions, N... ORPHA:544482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Recurrent Asperg... ORPHA:391487
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythrod... OMIM:615895
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... ORPHA:707
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Vomiting, Eczematoid dermatitis, Chronic hepatitis, Malabso... ORPHA:3260
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Neoplasm of the gastroint... ORPHA:99867
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Enterocolitis, Pancreatitis, ... ORPHA:79259
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Hepatoblastoma, Gastritis, Dependency on intravenous nutri... ORPHA:84064
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Recurrent infections, Impaired T cel... ORPHA:1830
Primary Sclerosing Cholangitis
Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Chronic hepatic failure, Pancreatitis,... ORPHA:171
Orotic Aciduria
Impaired T cell function OMIM:258900
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... ORPHA:906
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Hepatocellular carc... OMIM:232220
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration ORPHA:69665
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... OMIM:232240
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Parotitis, Colitis, Arthritis, Conjunctivitis, Abdominal pain, Epidi... OMIM:620376
Fumarase Deficiency
Hepatic failure, High palate, Necrotizing enterocolitis OMIM:606812
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Feeding difficulties, Villous atrophy, P... OMIM:619573
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... OMIM:617137
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... OMIM:181000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99226
Bardet-Biedl Syndrome
Inflammation of the large intestine, Otitis media, Aganglionic megacolon, Rhinitis, Abnormality o... ORPHA:110
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Inflammation of the large intestine ORPHA:70591
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion... ORPHA:2152
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Digeorge Syndrome
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Recurrent sinusitis, Recur... OMIM:188400
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567

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 Tlr9

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 Tlr9.

No publications found that use IMPC mice or data for Tlr9.

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