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Gene: C1qtnf6 MGI:1919959

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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:
C1q and tumor necrosis factor related protein 6
Synonyms:
CTRP6,  2810036M19Rik

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 C1qtnf6 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 C1qtnf6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Histiocy... OMIM:235900
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... OMIM:601859
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin... OMIM:619632
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... OMIM:615559
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... OMIM:618048
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increase... ORPHA:98813
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619707
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Splenomegaly, Incr... OMIM:618495
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... OMIM:615513
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... OMIM:300400
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... OMIM:620282
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... OMIM:607594
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... ORPHA:449400
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... OMIM:301082
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... ORPHA:2137
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Increased circulating IgE level... OMIM:243700
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, ... OMIM:618394
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat... OMIM:615767
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin ras... OMIM:615934
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media OMIM:616941
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... OMIM:300310
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... ORPHA:276
Immunodeficiency, Common Variable, 2
Autoimmunity, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjun... OMIM:240500
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... OMIM:241600
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... OMIM:620321
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease... OMIM:619510
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr... ORPHA:397596
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... OMIM:616100
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased ci... OMIM:616005
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell count, Skin rash, Autoimmunity, Abnorma... ORPHA:331206
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level OMIM:193670
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi... ORPHA:2619
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... ORPHA:100024
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Elevated circulating C-reactive protein ... OMIM:613011
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... ORPHA:169160
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive ... ORPHA:85435
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem... OMIM:617780
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:618204
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Eczema, Craniosynostosis, Eosinophilia, Keratitis, Increased circulating IgE level, ... OMIM:618523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Immunodeficiency 32B
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, A... OMIM:615816
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, B lymphocytopenia, Recurrent aphthous sto... OMIM:301078
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Lymphopenia, Recurrent skin infections, Joint stiffness, Splenomegaly, Reduced... OMIM:620210
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... OMIM:618108
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Autoimmunity, Elevated circulating creatinine concentration, Synov... ORPHA:567544
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... ORPHA:69126
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated ... ORPHA:79099
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Eosinophilopenia
Allergic rhinitis, Autoimmunity, Decreased eosinophil count OMIM:131430
Immunodeficiency 22
Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Decreased circulating total IgM, Panniculi... OMIM:615758
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto... ORPHA:436159
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, D... OMIM:618986
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Leukocytosis, Increased circulating IgG level, Limited elbow fl... ORPHA:206594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, A... OMIM:619375
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Leukopenia, Increased circul... ORPHA:83313
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... OMIM:619774
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Eosinophilia, Increased circulating... OMIM:147060
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Increased circulating IgM ... ORPHA:37748
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... OMIM:614700
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complet... OMIM:613496
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... OMIM:615577
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepati... OMIM:308230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... OMIM:614069
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Increased circulating IgE level, ... OMIM:618282
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... ORPHA:91139
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Myeloma, Multiple
Paraproteinemia OMIM:254500
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ... ORPHA:85414
Drug-Induced Lupus Erythematosus
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... ORPHA:231111
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Elevated circulating cre... ORPHA:329918
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Autoimmunity, Eosinophilia, Increased circulating ... ORPHA:449432
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Autoimmunity, Increased circulati... ORPHA:2298
Rheumatoid Arthritis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes... OMIM:180300
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Glomerulonephritis, Abnormal lymphocyte proliferation, A... ORPHA:99867
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Angiostrongyliasis
Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased circulating specific Ig... ORPHA:74
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Sinusitis, Inflammatory abnormali... OMIM:102700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hemolytic anemia,... OMIM:606367
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Conjunctiv... ORPHA:3392
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... ORPHA:64744
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia ORPHA:2582
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... OMIM:619693
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Pneumonia, Abnormality... ORPHA:229717
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:617099
Multiple Myeloma
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... ORPHA:29073
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Flexion con... OMIM:617591
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... ORPHA:37042
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ... ORPHA:2902
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Leukopenia, Rhiniti... ORPHA:507
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the elbow, Increased circulating IgE level, Abnormality of the wrist ORPHA:89843
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Thrombo... ORPHA:47
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Increased circulating ferritin concentration, S... OMIM:618398
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Elevated circulating C... OMIM:616414
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... OMIM:604250
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating IgE level, B ... OMIM:602450
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmu... ORPHA:227990
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Thrombocytopenia, Increased c... ORPHA:448237
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity ORPHA:98827
Q Fever
Rheumatoid factor positive, Cholecystitis, Lupus anticoagulant, Infectious encephalitis, Maculopa... ORPHA:781
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... OMIM:607115
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Thrombocytopenia, Abnormal joint morphology,... ORPHA:47612
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Elevated circulating creatine kinase c... ORPHA:206572
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Hypereosin... OMIM:256500
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... OMIM:120100
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased circulating antibody level, Agammaglo... OMIM:601495
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... OMIM:615518
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... ORPHA:33110
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmu... ORPHA:227982
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Reduced propo... ORPHA:90362
Prolidase Deficiency
Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Sy... OMIM:170100
Adult-Onset Nemaline Myopathy
Paraproteinemia, Flexion contracture, Mildly elevated creatine kinase ORPHA:171442
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... OMIM:242860
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... ORPHA:90060
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... ORPHA:85408
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abscess, Eosinophilia, Erythema nodosum, Abnor... ORPHA:228123
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Elevated circulating ... ORPHA:90003
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Rift Valley Fever
Skin rash, Thrombocytopenia, Hepatitis, Uveitis, Increased circulating IgG level, Increased circu... ORPHA:319251
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Myo... ORPHA:829
Caffey Disease
Increased circulating antibody level ORPHA:1310
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... ORPHA:449563
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Tick-Borne Encephalitis
Stiff neck, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis... ORPHA:297
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, Increased tot... ORPHA:90036
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation... ORPHA:221139
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Pneumocystosis
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... ORPHA:723
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Skin rash, Eczema, Recurrent fractures, Craniosynostosis, Eosinophilia... ORPHA:2314
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... ORPHA:589
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... ORPHA:319218
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent ... ORPHA:343
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Conjugated hyperb... ORPHA:186
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil... ORPHA:247353
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Ab... ORPHA:470
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Br... ORPHA:1163
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... ORPHA:3409
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Sinusitis, Elevated circulating alpha-fetoprotein c... OMIM:208900
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ... ORPHA:49041
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc... ORPHA:90363
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Autoimmunity, Hypocalcemic tetany, A... ORPHA:83471
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Neutropeni... OMIM:607944
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Stiff neck, Neutrophilia, Elevated circulating creatine kinase concentration,... ORPHA:99827
Alg12-Cdg
Hyponatremia, Ulnar deviation of the wrist, Partial absence of specific antibody response to Haem... ORPHA:79324
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... ORPHA:86816
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... ORPHA:91500
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... ORPHA:1855
Netherton Syndrome
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... ORPHA:634
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/S... ORPHA:536
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Osteopetrosis, Decrea... OMIM:612301
Encephalitis Lethargica
Stiff neck, Increased circulating antibody level, Autoimmunity ORPHA:83600
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Decreased circulating coppe... OMIM:300972
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Decreased c... ORPHA:420741
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Say-Barber-Miller Syndrome
Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislo... ORPHA:3132
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... OMIM:610377
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Joint stiffness ORPHA:1493
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Flexion contracture, Recurrent pneumonia, Increased circulating I... OMIM:617303
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Absce... ORPHA:125
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Limited elbow movement, Craniosynostosis, Decreased proportion of CD8-positive T cel... ORPHA:508533
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Cystic Echinococcosis
Abscess, Eosinophilia, Membranous nephropathy, Increased circulating antibody level, Hyperbilirub... ORPHA:400
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemia, Decreased circulating IgG lev... OMIM:607143
Lead Poisoning
Decreased HDL cholesterol concentration, Skin rash, Increased circulating IgE level, Imbalanced h... ORPHA:330015
Hereditary Xanthinuria
Arthropathy, Hypouricemia, Gout, Hyperxanthinemia, Rheumatoid arthritis ORPHA:3467
Lymphoid Interstitial Pneumonia
Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... ORPHA:79128
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Elevated circulating creatine kinase concentration,... OMIM:242840
Bloom Syndrome
Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circulating total IgM, Leukemia, D... OMIM:210900
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Increased c... OMIM:615846
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Pericarditis, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia, Thrombocytos... OMIM:212065
Marburg Hemorrhagic Fever
Reticulocytosis, Pericarditis, Lymphopenia, Maculopapular exanthema, Elevated circulating creatin... ORPHA:99826
Mgat2-Cdg
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating ant... ORPHA:79329
Lassa Fever
Increased circulating IgM level, Conjunctivitis ORPHA:99824
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Increased circulating... ORPHA:505248
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Increased circulating an... ORPHA:2905
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H... OMIM:618278
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Anem... OMIM:620005
Gaucher Disease
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur... ORPHA:355
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenomegaly, Osteolysis, Increas... ORPHA:77261
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Genu valgum, Delayed ossification of carpal bones, Neutropenia, Laryngotracheomalacia... OMIM:271510
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Decreased circulating IgG level, Flexion contracture, Erythroderma OMIM:601675
Alveolar Echinococcosis
Liver abscess, Cholangitis, Eosinophilia, Abnormal spleen morphology, Increased circulating antib... ORPHA:284
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Autoimmunity, Splenomegaly, Osteoporosis, Hepatitis, ... ORPHA:171
Japanese Encephalitis
Hyponatremia, Stiff neck, Genu recurvatum, Neutrophilia, Elbow flexion contracture, Increased cir... ORPHA:79139
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Increased ci... ORPHA:85443
Viss Syndrome
Joint laxity, Chronic gastritis, Recurrent joint dislocation, Eczema, Generalized joint laxity, I... OMIM:619472
Scleromyxedema
Paraproteinemia, Elevated circulating creatine kinase concentration ORPHA:167635
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Iridocyclitis, Splenomegaly, Bronchiectasis, Uvei... OMIM:181000
Aapoaiv Amyloidosis
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration ORPHA:439232
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Joint hypermobility, Decreased circulating IgA level, Decreased ... OMIM:617062
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Dubowitz Syndrome
Aplastic anemia, Eczema, Acute lymphoblastic leukemia, Otitis media, Hypocholesterolemia, Decreas... OMIM:223370
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Transient hyperphenylalaninemia, Rheumatoid arthritis ORPHA:98808
Cysticercosis
Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Yellow Fever
Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul... ORPHA:99829
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Splenomegaly, Increased ci... ORPHA:373
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sagittal craniosynostosis, Hyperextensible hand joints, Secretory IgA deficiency, Metopic synosto... ORPHA:500150

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 C1qtnf6

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 C1qtnf6.

No publications found that use IMPC mice or data for C1qtnf6.

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
C1qtnf6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C1qtnf6tm40272(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
C1qtnf6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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