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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat... OMIM:601859
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Histiocy... OMIM:235900
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... OMIM:618534
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, R... OMIM:619220
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Increased circulating i... OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... OMIM:209950
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Autoimmunity, Anti-thyroid pe... ORPHA:277
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Antinuclear antibody positivity, Syst... OMIM:178610
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Splenomegaly, Increased circulating antibody level, Autoimm... OMIM:618495
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
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
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency OMIM:216950
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Polyarticul... OMIM:619281
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... ORPHA:90280
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... OMIM:613494
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... OMIM:617006
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity,... ORPHA:411593
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... OMIM:607594
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... OMIM:618987
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in... ORPHA:169154
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Cernunnos-Xlf Deficiency
B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, A... OMIM:614470
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, B lymphocytopenia, Sinusitis, Decreased specific antibody response to polysacc... ORPHA:70593
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, I... ORPHA:449400
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Impaired Ig class... OMIM:608106
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... OMIM:618394
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Polyarticular arthritis, Increased circulating IgA level, Increased c... OMIM:617388
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Decre... OMIM:615767
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil antibody positivity, ... ORPHA:2137
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Anemia, Increased... OMIM:615934
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, T lymphocytopeni... OMIM:601457
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... ORPHA:276
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Immunodeficiency, Common Variable, 2
Autoimmunity, Bronchiectasis, Decreased circulating IgA level, Impaired T cell function, Decrease... OMIM:240500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral cand... ORPHA:275
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Hepatitis, Systemic lupus erythematosus, Splenomegaly, Auto... ORPHA:444463
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci... ORPHA:331206
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Autoimmunity, Megaloblastic anemia, Decreased circulat... OMIM:617780
Pgm3-Cdg
Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ... ORPHA:443811
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunodeficiency 61
Agammaglobulinemia, Recurrent sinusitis, Arthritis, Recurrent otitis media OMIM:300310
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Decreased circulating antibody le... ORPHA:2442
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Mu-Heavy Chain Disease
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Increased circulating antibody level, ... ORPHA:100024
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
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Antimitochon... ORPHA:562639
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... OMIM:308240
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Polyarticular arthritis, Synovitis, Rheumatoid factor positive, Symmetric polyarthritis, Osteopen... ORPHA:85435
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... ORPHA:169160
Lymphoproliferative Syndrome 1
Autoimmunity, Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating anti... OMIM:613011
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasis OMIM:193670
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia, Decreased serum iron OMIM:212050
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Recurre... OMIM:601495
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Elevated circulating C-reactive ... OMIM:604416
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Craniosynostosis, Joint contracture of the hand, ... OMIM:618523
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... OMIM:615816
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Elevated circulating C-reactive prote... ORPHA:79099
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ... OMIM:617241
Macrophage Activation Syndrome
Autoimmunity, Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Systemic lupus... ORPHA:158061
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Leukocytosis, Limitation of movement at ankles, Increased circulating IgG ... ORPHA:206594
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... ORPHA:217390
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Decreased circulating IgA l... OMIM:615577
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Systemic lupus erythematosus, Arthritis, Ma... OMIM:152700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-ne... ORPHA:572
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... OMIM:614700
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash, Increa... ORPHA:37748
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... OMIM:616576
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Craniosynostosis, Chronic mucocutaneous candidiasis, Osteopenia, Joint hyp... OMIM:147060
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... OMIM:619375
Immunodeficiency 36
Chronic lymphatic leukemia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, S... OMIM:616005
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... OMIM:616098
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 43
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Bronchiectasis OMIM:241600
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Pericarditis, Monoclonal elevation of circulating IgA, Monoclonal imm... ORPHA:91139
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Stomatitis, Decreased circulating IgA level, Chronic hepatitis, Impaired memory B ce... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... ORPHA:35078
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Erythroderma, Glomerul... OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Immunodeficiency 7
Autoimmunity OMIM:615387
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenos... OMIM:102700
Brucellosis
Myocarditis, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, Splenomegaly, Hyp... ORPHA:1304
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... ORPHA:555905
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Decreased serum complement C4, ... ORPHA:231111
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Uveitis, Rheumatoid arthr... ORPHA:85410
Selective Igm Deficiency
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fa... ORPHA:331235
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid arthritis, Skin r... ORPHA:85414
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp... OMIM:616871
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Autoimmunity, Interstitial pneumonitis, Neutropenia in presence of anti-neutro... ORPHA:231154
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Rheumatoid factor positive, Eosinophilia, Elevated circulating C-re... ORPHA:449395
Insulin-Resistance Syndrome Type B
Autoimmunity, Pneumonia, Leukopenia, Increased circulating IgA level, Abnormal circulating lipid ... ORPHA:2298
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Decreased serum complement C4, Elevated circulating... ORPHA:329918
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia OMIM:600351
Rheumatoid Arthritis
Polyarticular arthritis, Rheumatoid factor positive, Rheumatoid arthritis, Anti-citrullinated pro... OMIM:180300
Igg4-Related Submandibular Gland Disease
Cholangitis, Autoimmunity, Prostatitis, Increased circulating IgG4 level, Increased circulating I... ORPHA:449432
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Thymoma
Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol... ORPHA:99867
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Recurrent ... ORPHA:2688
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Thyr... ORPHA:64744
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Autoimmunity, Decreased specific pneumococcal antibody level, Decreased circulating ... ORPHA:183675
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis, Limitation of joint mobility ORPHA:399180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased cir... OMIM:606367
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Decreased serum complement C4, Elevated circulating creatinine concentration, Arthriti... ORPHA:567544
Angiostrongyliasis
Stiff neck, Increased circulating IgA level, Increased circulating IgG level, Increased circulati... ORPHA:74
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity ORPHA:90003
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Eosinophilia, Lymphopenia, Limitation of joint mobility ORPHA:2582
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Autoimmunity, Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Immunodeficiency 31C
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Osteopenia, Lymphopenia, Autoimmune hemo... OMIM:614162
Isolated Agammaglobulinemia
Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte mo... ORPHA:229717
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Tularemia
Brain abscess, Leukocytosis, Pneumonia, Anemia, Increased circulating antibody level, Otitis medi... ORPHA:3392
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Panniculitis, Anemia, Arthritis, Splenomegaly, Increased circulating antibod... OMIM:617591
X-Linked Agammaglobulinemia
Sinusitis, Autoimmunity, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, ... ORPHA:47
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Elevated circula... OMIM:611762
Leishmaniasis
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating... ORPHA:507
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine... ORPHA:29073
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Arthri... OMIM:608809
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Leukocytosis, Autoimmunity, Increased circulating IgE level, Hypereosinophilia... ORPHA:2902
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the wrist, Increased circulating IgE level, Abnormality of the elbow ORPHA:89843
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Decreased prealbumin level, Ne... ORPHA:37042
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Polyarticular arthritis, Interstitial pneumonitis, Neutropenia in presence ... OMIM:615952
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, Antinuclear... OMIM:616414
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Arthritis, Elevated transferrin saturation, Increased ... OMIM:604250
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... OMIM:208250
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... ORPHA:227990
Unclassified Myelodysplastic Syndrome
Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Arthritis, Uveitis, Skin rash, Elevated circulating C-reactive protein concentratio... OMIM:120100
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... OMIM:301054
Q Fever
Myocarditis, Thrombocytopenia, Hepatitis, Rheumatoid factor positive, Splenomegaly, Hepatosplenom... ORPHA:781
Felty Syndrome
Sinusitis, Autoimmunity, Neutropenia, Pericarditis, Episcleritis, Synovitis, Chronic otitis media... ORPHA:47612
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Cinca Syndrome
Leukocytosis, Patellar overgrowth, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eos... OMIM:607115
Overlap Myositis
Autoimmunity, Leukopenia, Elevated circulating creatine kinase concentration, Abnormal circulatin... ORPHA:206572
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Systemic lupus erythematosus, Arthritis, Malar rash, Antinuclear antibody positivity OMIM:609939
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... OMIM:615518
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... ORPHA:227982
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... ORPHA:33110
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... ORPHA:90362
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Joint hypermobility, Decreased circulating IgG level, Decreased ... OMIM:617062
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Netherton Syndrome
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level... OMIM:256500
Gamma-Heavy Chain Disease
Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, Autoimmune thromb... ORPHA:100026
Prolidase Deficiency
Eczema, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting erythematous dermatitis, Inc... OMIM:170100
Diffuse Alveolar Hemorrhage
Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Elevated circulating creatinine c... ORPHA:90060
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C... ORPHA:449427
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... OMIM:242860
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase, Flexion contracture ORPHA:171442
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Hip osteoarthritis, Ankle swellin... ORPHA:85408
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Thrombocytopenia 1
Eczema, Decreased mean platelet volume, Increased circulating IgA level, Joint hemorrhage, Interm... OMIM:313900
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo... ORPHA:1416
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu... ORPHA:79078
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Coccidioidomycosis
Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peritonitis, Abscess, Panniculi... ORPHA:228123
Immunodeficiency 22
Autoimmunity, Panniculitis, Decreased proportion of CD4-positive helper T cells OMIM:615758
Ataxia-Telangiectasia
Sinusitis, Bronchiectasis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, D... OMIM:208900
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8, Parotitis, Splenomegaly, Camptodactyly of finger, Elevated c... OMIM:256040
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Pemphigus Erythematosus
Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... ORPHA:79480
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ... OMIM:307200
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Systemic lupus erythematosus, Increased total bilirubin, Skin rash, Autoimmune hemo... ORPHA:90036
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Psoriasiform dermatitis, Pustule, Polyarticular arthritis, Oligoarthri... OMIM:614204
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Pericarditis, Abnormal circulating lipid concentration, Hepatitis, Bon... ORPHA:829
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... ORPHA:449563
Thymic Tumor
Dysgammaglobulinemia, Autoimmunity, Pericarditis ORPHA:100100
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Cryoglobulinemia, Increa... ORPHA:48435
Rift Valley Fever
Infectious encephalitis, Hepatitis, Anemia, Increased circulating IgG level, Uveitis, Increased c... ORPHA:319251
Zika Virus Disease
Wrist swelling, Infectious encephalitis, Ankle swelling, Arthritis, Increased circulating IgM lev... ORPHA:448237
Tick-Borne Encephalitis
Leukocytosis, Stiff neck, Abnormality of serum cytokine level, Leukopenia, Increased circulating ... ORPHA:297
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Psoriasiform dermatitis, Recurrent aspiration pneumonia, Decreased circulating... ORPHA:221139
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Autoimmunity, Polyarticular arthritis, Abnormality of the knee, Oligoart... ORPHA:85436
Hyper-Igd Syndrome
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Arthritis... OMIM:260920
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal sacroiliac joint morpholog... ORPHA:324964
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... OMIM:602668
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Myasthenia Gravis
Anti-acetylcholine receptor antibody positivity, Myositis, Hepatitis, Systemic lupus erythematosu... ORPHA:589
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total I... OMIM:619381
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Autoimmunity, Abnormal joint morphology, Abnormal sacroiliac joint morph... ORPHA:92
Caffey Disease
Increased circulating antibody level ORPHA:1310
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Pathologic fracture, Osteopenia, Hypersplenism, Increased circu... ORPHA:77259
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Craniosynostosis, Osteomyelitis, Osteopenia, Increased circulating ... ORPHA:2314
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmunity, Hypouricemia, Systemic lupus erythematosus, Decreased p... ORPHA:760
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Increased circulating antibody level, Acute pancreatitis, Lymphopenia, Mac... ORPHA:319218
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Abnormal circulating lipid concentration, Hepatiti... ORPHA:186
Diverticulosis, Small-Intestinal
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis OMIM:223320
Pneumocystosis
Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating antibody level, Acute i... ORPHA:723
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Arthritis, Limitation of joint mobility, Recurrent ... ORPHA:343
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... OMIM:210250
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Osteoporosis, Increased circulating IgE level, Camptodactyly of finge... ORPHA:3409
Aspergillosis
Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli... ORPHA:1163
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Autoimmunity, Decreased prealbumin level, Decreased circulating IgA le... ORPHA:90363
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Neutropenia, Pneumonia, Recurrent otitis media, Systemic lupus erythematosus, Joint... OMIM:607944
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Deep dermal perivascular in... ORPHA:49041
Crimean-Congo Hemorrhagic Fever
Myocarditis, Leukocytosis, Stiff neck, Leukopenia, Elevated circulating creatine kinase concentra... ORPHA:99827
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Autoimmunity, Decreased proportion of naive T cells, Hypocalcem... ORPHA:83471
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Decreased circulating antibody level, Hyperglycinemia, Pathologic f... ORPHA:470
Bloom Syndrome
Bronchiectasis, Leukemia, Decreased circulating IgA level, Decreased circulating IgG level, Malar... OMIM:210900
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Cholangitis, Autoimmunity, Anti-glutamic acid decarb... ORPHA:228426
Complement Factor I Deficiency
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Arthritis... OMIM:610984
Alg12-Cdg
B lymphocytopenia, Hypoalbuminemia, Hyponatremia, Partial absence of specific antibody response t... ORPHA:79324
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Eczema, Leukopenia, Decreased circulating antibody level, Bone marr... OMIM:615688
Spondyloenchondrodysplasia
Autoimmunity, Pancytopenia, Pneumonia, Hepatitis, Systemic lupus erythematosus, Arthritis, Autoim... ORPHA:1855
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Eczema, Recurrent patellar dislocation, Transient hypogammaglobulinem... ORPHA:3132
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG level, Osteopet... OMIM:612301
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Increased circulating antibody level, Hypo... ORPHA:86816
Netherton Syndrome
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin... ORPHA:634
Vici Syndrome
Joint stiffness, Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Tubulointerstitial nephritis, Normocytic anemia, Posterior uveitis, Normochro... ORPHA:91500
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Normochromic anemia, Decreased circulating antibody level, Parotiti... ORPHA:289390
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... ORPHA:420741
Immunodeficiency 47
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... OMIM:300972
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Neutropenia, Leukopenia, Nephritis, Anemia, Bone marrow hypocellularity, Splenom... OMIM:617303
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level, Stiff neck ORPHA:83600
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Increased circulating IgD level, Elevated circulating C-r... OMIM:610377
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Craniosynostosis, Decrease... ORPHA:508533
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Pneumonia, Cheilitis, ... ORPHA:125
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Decreased p... OMIM:242840
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgA level, Hypocholesterolemia, Decreased circulating IgG l... OMIM:212065
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Hyperbilirubinemia, Increased ... ORPHA:400
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia, Gout, Rheumatoid arthritis, Arthropathy ORPHA:3467
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Autoimmunity, Eczema, Bronchiectasis, Autoimmune antibody positivity,... ORPHA:79128
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoalbuminemia, Pericarditis, Leukopenia, Hypokalemia, Neutrophilia in presence... ORPHA:99826
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatosplenomeg... ORPHA:505248
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu varum, Neutropenia, Laryngotracheomalacia, Decreased circulating IgG level, Osteopenia, Genu... OMIM:271510
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Sclerosis of hand bone, Increased circulati... ORPHA:2905
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Decreased circulating IgG level, Erythroderma, Flexion contracture OMIM:601675
Lassa Fever
Increased circulating IgM level, Conjunctivitis ORPHA:99824
Gaucher Disease
Elevated circulating C-reactive protein concentration, Hepatitis, Anemia, Arthrogryposis multiple... ORPHA:355
Gaucher Disease Type 3
Increased susceptibility to fractures, Anemia, Splenomegaly, Increased circulating antibody level... ORPHA:77261
Alveolar Echinococcosis
Cholangitis, Anemia, Abnormal spleen morphology, Increased circulating antibody level, Eosinophil... ORPHA:284
Dubowitz Syndrome
Eczema, Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:223370
Viss Syndrome
Atopic dermatitis, Eczema, Decreased circulating IgA level, Generalized joint laxity, Increased c... OMIM:619472
Japanese Encephalitis
Stiff neck, Hyponatremia, Infectious encephalitis, Genu recurvatum, Neutrophilia, Increased circu... ORPHA:79139
Al Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Increased circulating antibody level, Howe... ORPHA:85443
Scleromyxedema
Elevated circulating creatine kinase concentration, Paraproteinemia ORPHA:167635
Primary Sclerosing Cholangitis
Autoimmunity, Hepatitis, Osteoporosis, Pancreatitis, Splenomegaly, Osteopenia, Hepatosplenomegaly... ORPHA:171
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Bronchiectasis, Arthritis, Splenomegaly, Iridocyclitis, Uvei... OMIM:181000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate... OMIM:606002
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Paraproteinemia, Hyperlipidemia ORPHA:439232
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis, Transient hyperphenylalaninemia ORPHA:98808
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Pancreatitis, Infantile hy... ORPHA:405
Cysticercosis
Stiff neck, Iridocyclitis, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... ORPHA:99829
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Rheumatoid arthritis, Iritis OMIM:108050
Trichinellosis
Increased circulating IgE level, Skin rash, Conjunctivitis ORPHA:863
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Splenomegaly, Increased circulating IgE level, Camp... ORPHA:373
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Metopic synostosis, Secretory IgA deficiency, Decreased circulating IgG level, Hyperextensible ha... 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.

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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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