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Gene: Tax1bp1 MGI:1289308

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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:
Tax1 (human T cell leukemia virus type I) binding protein 1
Synonyms:
1200003J11Rik,  D6Ertd772e,  T6BP,  D6Ertd404e,  1700069J21Rik,  TXBP151

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 Tax1bp1 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 Tax1bp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu... OMIM:613953
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... OMIM:615615
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... OMIM:300400
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short stature, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Recurrent skin infections, Short stature, Decreased circulating antibody l... OMIM:617744
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Incr... ORPHA:277
Immunodeficiency 48
Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatiti... OMIM:269840
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... OMIM:617241
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Chronic ... ORPHA:90280
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Telangiectasia of the skin, Abnormality of neutr... ORPHA:542592
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Vasculitis in the skin, Abnormal immunoglobulin level ORPHA:90159
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... OMIM:300635
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... ORPHA:540
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Pruritus, I... OMIM:618282
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent skin infections OMIM:614372
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating ... OMIM:618108
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... OMIM:301082
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Increased proportion of CD25+ mast ce... ORPHA:98848
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukope... ORPHA:33355
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Postnatal growth retardation, Increased circulating IgE level, Thyroiditis... OMIM:618985
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Eczema, Perianal abscess, Splenomeg... OMIM:618935
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... OMIM:240500
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... OMIM:608971
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Capillary leak, Decreased circulating... OMIM:615758
Bone Marrow Failure Syndrome 4
Short stature, Eczema, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone... OMIM:618116
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, T lymphocytopeni... OMIM:619510
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Recurrent skin infections, Ventricular septal defect, Short stature, Postnatal growt... OMIM:620210
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Subarachno... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... ORPHA:169160
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circu... ORPHA:98813
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... OMIM:618986
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level, Vasculitis in the skin ORPHA:90000
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Impair... OMIM:308230
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Abnormality o... ORPHA:158061
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... ORPHA:563
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Increased circulating IgE level, Recu... OMIM:619752
Immunodeficiency 96
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Growth delay, D... OMIM:619774
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... ORPHA:436159
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia, Hypertension, Failure to thrive OMIM:616069
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... ORPHA:276
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Roifman Syndrome
Noncompaction cardiomyopathy, Short stature, Eczema, Eosinophilia, Postnatal growth retardation, ... ORPHA:353298
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczemat... OMIM:619693
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... ORPHA:70578
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Short stature, Decreased lymphocyte proliferation in respon... OMIM:615468
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... OMIM:617780
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane... OMIM:147060
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... ORPHA:98850
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidias... ORPHA:275
Schnitzler Syndrome
Skin rash, Pruritus, Splenomegaly, Leukocytosis, Vasculitis, Increased circulating IgM level, Art... ORPHA:37748
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... ORPHA:33110
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Failure to thrive in infancy OMIM:619175
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233710
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... OMIM:613470
Immunodeficiency 58
Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma... OMIM:618131
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly... OMIM:242700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti... OMIM:618523
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Neu... OMIM:209920
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Acute Lung Injury
Shock, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Diffuse ... ORPHA:178320
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233690
Vulvovaginal Gingival Syndrome
Pruritus, Abnormality of tumor necrosis factor secretion ORPHA:83453
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Recurr... ORPHA:47
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia, Increas... ORPHA:3392
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Immunodeficiency 108 With Autoinflammation
Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrop... OMIM:260570
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Myocarditis, Hepatit... ORPHA:829
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... ORPHA:229717
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... OMIM:614700
Peeling Skin Syndrome 1
Short stature, Eosinophilia, Pruritus, Increased circulating IgE level, Erythroderma OMIM:270300
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma, Pruritus ORPHA:280785
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, Increased circulating IgG level, T lymphocytopenia, Neutropen... ORPHA:443811
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... OMIM:214500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... OMIM:304790
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Skin rash, Short stature, Reduced natural killer cell activity, ... OMIM:616050
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Abnormal heart valve morphology,... ORPHA:781
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Decreased circulating IgG2 leve... OMIM:102700
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight los... ORPHA:139402
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Weight loss,... ORPHA:47612
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Epis... ORPHA:167
Netherton Syndrome
Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating Ig... OMIM:256500
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... OMIM:152700
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Yao Syndrome
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight lo... OMIM:617321
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... ORPHA:2968
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera... ORPHA:330058
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ... OMIM:618963
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto... OMIM:617099
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613736
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:306400
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Growth delay, Folliculitis, Hematochezia, Pyoderma, Colitis, Cro... OMIM:613148
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Neutropenia in p... OMIM:615952
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Impaired T cell f... OMIM:613179
Zika Virus Disease
Maculopapular exanthema, Skin rash, Pruritus, Increased circulating IgM level, Arthritis, Conjunc... ORPHA:448237
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Pruritus, Spl... ORPHA:98849
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Failure to thrive, Skin rash, Increased circulating IgA level, Pustule, Raynaud phenome... OMIM:615934
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encep... ORPHA:1304
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... ORPHA:85436
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ... OMIM:614868
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Abnormal pericardi... ORPHA:183
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Ventricular septal defect, Impaired T cell function, Abnormal cortical gyration, Sp... OMIM:614576
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... ORPHA:37042
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis OMIM:603165
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abscess, Eosinophi... OMIM:615816
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... OMIM:301000
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... OMIM:604416
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Leukocytosis, Hepat... ORPHA:292
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Orotic Aciduria
Ventricular septal defect, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Vasculitis, Leukopenia, Increased circulating IgG level, Incr... ORPHA:83313
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Infectious encephalitis, I... ORPHA:36234
Prolidase Deficiency
Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangiectas... OMIM:170100
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... OMIM:619858
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Failure to thrive, Splenomegaly, Anemia, Arthritis, Panniculitis,... OMIM:617591
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, ... ORPHA:398124
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Intrauterine growth retardation, Short stature, Minimal ch... ORPHA:1830
Pelger-Huet Anomaly
Ventricular septal defect, Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuc... OMIM:169400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... ORPHA:542323
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Anemia, Panniculitis, ... OMIM:608068
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hypoplastic anemi... ORPHA:77297
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Arrhythmia, Pancreatitis ORPHA:188
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, A... ORPHA:3099
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurrent otit... OMIM:620321
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Legionnaires Disease
Pericarditis, Splenomegaly, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellularity, Hy... ORPHA:549
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum... ORPHA:83471
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... OMIM:617443
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Netherton Syndrome
Skin rash, Eczema, Short stature, Increased circulating IgE level, Decreased circulating antibody... ORPHA:634
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Prolonged QTc interval, Anemia, Malar rash, Serositis, Thromb... ORPHA:231111
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
American Trypanosomiasis
Skin rash, Splenomegaly, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Infec... ORPHA:3386
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Palpitations ORPHA:206569
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Vasculitis, Weight loss, Arthr... ORPHA:324964
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Sh... ORPHA:811
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, Patent foramen ovale, Infectious encephalitis, Short stature, Autoimmune throm... ORPHA:391487
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Classic Hodgkin Lymphoma
Skin rash, Pruritus, Splenomegaly, Weight loss, Bone marrow hypocellularity ORPHA:391
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Increased circulating IgG le... ORPHA:99827
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Scrub Typhus
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Hypotension, Infectious encephalitis ORPHA:83317
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension ORPHA:767
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis ORPHA:85414
Thrombocytopenia 1
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... OMIM:313900
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Cachexia, Myocardial infarction, Splenomegal... ORPHA:3452
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis OMIM:611762
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Sple... ORPHA:809
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Pruritus, Myocarditis, Ker... ORPHA:81
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Eczema, Short stature, Large for gestational age, M... OMIM:615355
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Vasculiti... ORPHA:228123
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia OMIM:616744
Vici Syndrome
Lymphopenia, Atrial septal defect, Failure to thrive, Left ventricular hypertrophy, Postnatal gro... OMIM:242840
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Short stature, Eczema, Postnatal growth retardation, Thyroiditis, Weight loss,... OMIM:212750
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Bronchiectasis, Decreased ci... ORPHA:169105
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Portal hypertension, Raynaud phenomenon, Leukocytosis, Dilated... OMIM:615688
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Acut... ORPHA:486
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... ORPHA:533
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Short stature, Failure to thrive in ... OMIM:610377
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Growth delay, Arthritis, Anemia OMIM:607115
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral... ORPHA:2848
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ta... ORPHA:39812
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Increased circulating IgE level, Chroni... ORPHA:2314
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Inflammatory abnormality of the skin, Tachycardia, Ventricular septal defe... ORPHA:26793
Say-Barber-Miller Syndrome
Short stature, Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased ci... ORPHA:3132
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... OMIM:301074
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... ORPHA:48435
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Small for gestational age, Pruritus, Pruritus on foot, Abnormal circulating interleuki... ORPHA:69665
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... ORPHA:2552
Scedosporiosis
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Pityriasis Rubra Pilaris
Pruritus, Pustule, Eczema, Erythroderma ORPHA:2897
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Pericardial ... OMIM:619487
Hennekam-Beemer Syndrome
Short stature, Pneumonia, Telangiectasia of the skin, Pruritus, Hypotension, Mastocytosis, Arrhyt... ORPHA:2135
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthritis, Constrictive pericarditis OMIM:208250
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Bloom Syndrome
Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-positive T ce... ORPHA:125
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... ORPHA:2686
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Eczema, Thrombocytopenia, C... ORPHA:508542
Shigellosis
Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Myocarditis, Leukocytosis, Perit... ORPHA:810
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... ORPHA:93672
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... ORPHA:32960
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Bronchiectasis,... OMIM:619381
Lujo Hemorrhagic Fever
Shock, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Fulminant hepatitis, Subcon... ORPHA:319213
Kawasaki Disease
Pericarditis, Skin rash, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, ... ORPHA:2331
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hemolytic anemia, Chilblains, Pericardial effusion, Vasculitis, Hepatitis, He... OMIM:615846
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc... ORPHA:73263
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Holocarboxylase Synthetase Deficiency
Eczema, Keratoconjunctivitis, Growth delay, Weight loss, Thrombocytopenia, Perioral eczema ORPHA:79242
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Increased circulating IgG4 leve... ORPHA:449395
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Atopic dermati... ORPHA:171876
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Acute colitis, Abnormal pericardium morphology, Congestive heart fai... ORPHA:67
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Abnormality of serum c... ORPHA:94059
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Failure to thrive, Pericardial effusion, Cardiomyopathy, Thrombocytosis, Decreased ... OMIM:212065
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, Raynaud phenomen... ORPHA:3260
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Nail bed telangiectas... ORPHA:90291
Marburg Hemorrhagic Fever
Uveitis, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Reticulocytosis, Maculo... ORPHA:99826
Generalized Pustular Psoriasis
Pustule, Overweight, Leukocytosis, Congestive heart failure, Cheilitis, Uveitis, Obesity, Arthrit... ORPHA:247353
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Acute colitis, Increased circulating interleukin 6 concentration... ORPHA:544482
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Growth d... ORPHA:79284
Progeroid Short Stature With Pigmented Nevi
Bicuspid aortic valve, Allergic rhinitis, Impaired T cell function, Short stature, Small for gest... OMIM:176690
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity, Orthos... ORPHA:66628
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Pancytopenia, Skin rash, Dextrocardia, Short stature, Megaloblastic anemia,... OMIM:277380
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, ... OMIM:603553
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... OMIM:617827
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Failure to thrive OMIM:612714
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pruritus, Pustule, Leuk... ORPHA:293173
Relapsing Polychondritis
Episcleritis, Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Keratitis, Myoc... ORPHA:728
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema OMIM:254400
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Osteomye... OMIM:614162
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity, Orthos... ORPHA:179494
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis OMIM:614204
Protoporphyria, Erythropoietic, 1
Pruritus, Hemolytic anemia, Eczema OMIM:177000
Kikuchi-Fujimoto Disease
Skin rash, Pruritus, Splenomegaly, Pustule, Myocarditis, Vasculitis, Weight loss, Anemia, Leukope... ORPHA:50918
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Pericardial effusion, Splenomegaly, Iridocyclitis... OMIM:181000
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,... ORPHA:900
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated cardiomyopathy, Congestive heart failu... OMIM:615895
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Osteomyelitis, Abscess, Skin rash, Failure to thrive in infancy, Pustule, Splenomeg... OMIM:612852
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... ORPHA:398063
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, I... ORPHA:29207
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Severe postnatal growth retardation, Abnormality of T cell physiology, Psoriasiform dermatitis, A... ORPHA:2237
B4Galt1-Cdg
Splenomegaly, Inflammatory abnormality of the skin, Small for gestational age ORPHA:79332
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... OMIM:186580
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis OMIM:612567
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Increased cir... OMIM:256040
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Failure to thrive, Short stature, Impaired T cell function OMIM:201100
Nocardiosis
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Abnormal heart valve morpho... ORPHA:31204
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... ORPHA:454831
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Crohn's... OMIM:249100
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Eczema, Decreased circulating total IgM, Atrial septal defect OMIM:618162
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Right ventricular failure, Decreased circulating antibody level... ORPHA:90363
Rift Valley Fever
Skin rash, Hematemesis, Hepatitis, Uveitis, Retinal hemorrhage, Anemia, Increased circulating IgG... ORPHA:319251
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Arthritis, Cerebral ische... ORPHA:397
Familial Mediterranean Fever
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthritis, Peritonit... ORPHA:342
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... ORPHA:221
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Vasc... ORPHA:793
Epidermodysplasia Verruciformis
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Colchicine Poisoning
Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock,... ORPHA:31824
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA level, Osteoarthritis... ORPHA:2298
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Hematochezia, Subconj... OMIM:617718
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... ORPHA:100026
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A... ORPHA:93317
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Abno... ORPHA:565612
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Inflammatory abnormality of the skin, Dilated cardiomyopathy, Bradycardia OMIM:610768
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentra... ORPHA:99829
Pemphigus Foliaceus
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Atrial septal defect, Chronic otitis media, A... ORPHA:567
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborr... ORPHA:83617
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... ORPHA:90340
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Impaired T cell function, Short stature OMIM:192430
Scorpion Envenomation
Bundle branch block, Acute pancreatitis, Tachycardia, Cardiac conduction abnormality, Myocarditis... ORPHA:466677
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, W... ORPHA:91500
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis ORPHA:2483
Leptospirosis
Pericarditis, Skin rash, First degree atrioventricular block, Hepatitis, Uveitis, Retinal hemorrh... ORPHA:509
African Trypanosomiasis
Abnormal EKG, Pericarditis, Keratitis, Splenomegaly, Myocarditis, Pruritus, Congestive heart fail... ORPHA:3385
Digeorge Syndrome
Acne, Impaired T cell function, Ventricular septal defect, Seborrheic dermatitis, Short stature, ... OMIM:188400
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Myocarditis, Disproportionate short stature, Atrial septal defect, Arrhythmia, Focal ... OMIM:250220
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Postnatal growth retardation, Short stature ORPHA:1272
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Left ventricu... ORPHA:294023
Tetrasomy 9P
Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Arthritis, Pulmonary arterial hypertens... ORPHA:3310
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation ORPHA:556
Ayme-Gripp Syndrome
Pericarditis, Short stature OMIM:601088
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Gastroin... ORPHA:95455
Pmm2-Cdg
Pericarditis, Angina pectoris, Pericardial effusion, Intracranial hemorrhage, Aspiration pneumoni... ORPHA:79318

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 Tax1bp1

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 Tax1bp1.

No publications found that use IMPC mice or data for Tax1bp1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tax1bp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tax1bp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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