Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Fc receptor, IgG, high affinity I
Synonyms:
FcgammaRI,  CD64

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 Fcgr1 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 Fcgr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... OMIM:614372
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... OMIM:608184
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ... OMIM:300310
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Increased... OMIM:618495
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... OMIM:613502
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, R... OMIM:619220
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... OMIM:613953
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... OMIM:612692
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Immunodeficiency 17
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurrent respirato... OMIM:615607
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurre... OMIM:616576
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Systemic lupus erythematosus, Recurrent otitis media, Hepatitis, Splenomegaly, Auto... ORPHA:444463
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu... ORPHA:275
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Autoimmunity, B lymphocytopenia, Recurrent viral infections, Decr... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis OMIM:615468
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in p... ORPHA:572
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Abnormal CD4:CD8 ratio, Defective T cell proliferati... OMIM:618534
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... OMIM:618944
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... OMIM:619437
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... OMIM:618982
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Autoimmunity, Bronchiectasis, Decreased circulating IgA level, Im... OMIM:240500
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Systemic lupus erythematosus, Membranoproliferative glomeruloneph... OMIM:613779
Congenital Atransferrinemia
Anemia, Arthritis, Recurrent infections ORPHA:1195
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsive ... OMIM:615559
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat... OMIM:601859
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Sepsis, Bronchiectasis, Decreased circulating IgA level, Decreas... OMIM:616100
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia OMIM:312863
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... OMIM:242850
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... OMIM:193670
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutrop... OMIM:209920
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:137100
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Thymic Aplasia
Sinusitis, Autoimmunity, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida in... ORPHA:83471
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lo... ORPHA:331206
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... OMIM:601457
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Selective Igm Deficiency
Autoimmunity, Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent her... ORPHA:331235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Sepsis, Recurrent herp... ORPHA:183675
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, B lymphocytopenia, Sepsis, Interstitial pneumonitis, Neutropenia in presence of ant... ORPHA:231154
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Chronic oral candidiasis, Reduced... OMIM:300400
Immunodeficiency 36
Recurrent bacterial infections, Autoimmunity, Chronic lymphatic leukemia, Bronchiectasis, Decreas... OMIM:616005
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Immunodeficiency 31C
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Osteopenia, Lymphopenia, Recurrent respi... OMIM:614162
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... OMIM:617514
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Neutrop... OMIM:613179
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Craniosyn... OMIM:147060
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Stomatitis, Decreased circulating IgA level,... OMIM:308230
Lymphoproliferative Syndrome 1
Autoimmunity, Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating anti... OMIM:613011
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Increased ... OMIM:615767
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune ... OMIM:614470
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infection... OMIM:614493
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... OMIM:614700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Severe varice... OMIM:606367
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi... OMIM:178610
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Crohn's disease... OMIM:619632
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Transient neutropenia, Recu... OMIM:607676
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Autoimmunity, Macrocytic anemia, Eczema, Megaloblastic anemia, Decreased circulat... OMIM:617780
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Polyarticular arthritis, Interstitial pneumonitis, Neutropenia in presence ... OMIM:615952
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:619281
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Pneumonia, Decreased circulating Ig... OMIM:102700
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:618969
Immunodeficiency 27A
Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Increased inflammatory resp... OMIM:209950
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Autoimmunity, Sepsis, Pneumonia, Chronic otitis media, Recurrent ... ORPHA:169090
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... OMIM:615513
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... OMIM:607850
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233710
Gamma-Heavy Chain Disease
Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, Autoimmune thromb... ORPHA:100026
Pgm3-Cdg
Autoimmunity, Eczema, Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:443811
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:859
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Erythroderma, Pneumonia, Recurrent fungal infe... OMIM:603554
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233690
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Immunodeficiency 10
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia OMIM:612783
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Leukocytosis, Sepsis, Osteopetrosis, Anemia, Splenomegaly, Hepato... OMIM:612840
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Systemic lupus erythematosus, Nephritis, Arthritis, Ma... OMIM:152700
Bullous Impetigo
Sepsis, Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent otitis media,... ORPHA:277
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... OMIM:619375
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Malar rash, Increased circulating antib... ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... ORPHA:169160
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Crohn's disease... OMIM:618394
Isolated Agammaglobulinemia
Sinusitis, Autoimmunity, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymph... ORPHA:229717
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Felty Syndrome
Sinusitis, Autoimmunity, Sepsis, Neutropenia, Chronic otitis media, Recurrent infections, Splenom... ORPHA:47612
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Polyarticular arthritis, Increased circulating IgA level, Increased c... OMIM:617388
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Infectious encephalitis OMIM:616098
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Sepsis, Neutropenia, Tubuloint... ORPHA:37042
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in response to ... ORPHA:169154
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased inflammatory response, Increased circulating IgE leve... ORPHA:449400
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Severe varicella zoster infection, Bronchiectasis, Rheuma... OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Skin rash OMIM:618048
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Acne, Arthritis, Knee flexion contracture, Hepato... OMIM:604416
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Boutonneuse Fever
Increased circulating IgM level, Maculopapular exanthema, Increased circulating IgG level, Skin rash ORPHA:83313
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Arthritis, Acut... ORPHA:2137
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... OMIM:617241
Immunodeficiency 43
Decreased circulating IgG level, Bronchiectasis OMIM:241600
Kimura Disease
Increased circulating IgE level ORPHA:482
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmunity, Systemic lupus erythematosus, Recurrent infections, Dec... ORPHA:760
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... OMIM:308240
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the l... OMIM:301000
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Autoinflammatory Syndrome, Familial, Behcet-Like
Polyarticular arthritis, Thrombocytopenia, Colitis, Anterior uveitis, Lymphopenia, Skin rash, Lup... OMIM:616744
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatit... ORPHA:33110
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Leukocytosis, Osteomyelitis, Periodontitis, Recurrent staphylococ... OMIM:116920
Immunodeficiency 92
Cholangitis, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Esophag... OMIM:619652
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Chronic otitis media, Increased circulating IgE level, Recurrent ba... ORPHA:217390
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Systemic lupus erythematosus, Skin rash, Autoimmune hemolytic anemia ORPHA:90036
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Myositis, Increased circulating IgA level, Increased circulating IgG level, Malar rash, ... OMIM:615934
Paroxysmal Cold Hemoglobinuria
Coombs-positive hemolytic anemia, Recurrent respiratory infections, Autoimmune hemolytic anemia ORPHA:90035
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level OMIM:618523
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Recurrent infections, Rheumatoid factor positive, Onychomycosis, Splenomeg... OMIM:618935
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... OMIM:615577
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Postinfectious Vasculitis
Severe varicella zoster infection, Rheumatoid factor positive, Recurrent candida infections, Infl... ORPHA:48435
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Erythroderma, Glomerul... OMIM:304790
Simple Cryoglobulinemia
Pericarditis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, N... ORPHA:91139
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM ORPHA:2643
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Impaired p... ORPHA:2968
Spondyloenchondrodysplasia
Autoimmunity, Pneumonia, Systemic lupus erythematosus, Hepatitis, Arthritis, Recurrent infections... ORPHA:1855
Whim Syndrome
Sinusitis, Sepsis, Recurrent bacterial infections, Neutropenia, Pneumonia, Bronchiectasis, Lympha... ORPHA:51636
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Enlarged platelet dense granules, Reduced natural ki... OMIM:608233
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Limitation of joint mobility, Rheumatoid arthritis ORPHA:399180
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Autoimmunity, Episcleritis, Joint dislocation, Arthritis, Splenom... ORPHA:36412
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Recurr... ORPHA:391487
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Autoimmune ... OMIM:243150
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Psoriasiform dermatitis, Recurrent aspiration ... ORPHA:221139
Immunodeficiency 68
B lymphocytopenia, Sepsis, Lymphadenitis, Septic arthritis, Recurrent skin infections, T lymphocy... OMIM:612260
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG level... ORPHA:74
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level OMIM:615846
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Rheumatoid arthritis, Uve... ORPHA:85410
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Schnitzler Syndrome
Arthritis, Increased circulating IgM level, Skin rash ORPHA:37748
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Nijmegen Breakage Syndrome
Sinusitis, B lymphocytopenia, Recurrent infection of the gastrointestinal tract, Bronchiectasis, ... OMIM:251260
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Increased circulating IgG1 level, Inflammatory abnormality of the s... ORPHA:449395
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Chronic lymphatic leukemia, Systemic lupus erythematosus, Splenomegaly, Autoimmune ... ORPHA:90033
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating IgG level, Comp... ORPHA:449432
Tularemia
Pneumonia, Increased circulating antibody level, Otitis media, Inflammatory abnormality of the ey... ORPHA:3392
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Panniculitis, Splenomegaly, Flexion contracture, Autoimmune hemolytic anemia OMIM:619183
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Decreased circulating IgG level, Chronic gastritis, ... OMIM:608809
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Panniculitis, Anemia, Arthritis, Recurrent infections, Splenomegaly, Increas... OMIM:617591
Shwachman-Diamond Syndrome
Sinusitis, Sepsis, Eczema, Neutropenia, Leukemia, Pancytopenia, Bone marrow hypocellularity, Oste... ORPHA:811
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... OMIM:603585
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Increased ci... ORPHA:562639
Caffey Disease
Increased circulating antibody level ORPHA:1310
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Allergic rhinitis, Erythroderma OMIM:256500
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Pustule, Lack of T cell function, Chronic oral candidiasis, Partial IgA deficiency, Decreased cir... ORPHA:35078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Hip osteoarthritis, Ankle swellin... ORPHA:85408
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... OMIM:242840
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Eosinophilic infiltration of the... OMIM:618213
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Lymphadenitis, Partial absence of specific antibody response to Haemophilus influ... OMIM:618986
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid arthritis, Skin r... ORPHA:85414
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Periodontitis, Hepat... ORPHA:167
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... OMIM:612541
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3, Membranoproliferat... ORPHA:329918
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Acute ... ORPHA:60033
Rheumatoid Arthritis
Polyarticular arthritis, Rheumatoid factor positive, Rheumatoid arthritis, Anti-citrullinated pro... OMIM:180300
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Thymoma
Autoimmunity, Imbalanced hemoglobin synthesis, Anti-acetylcholine receptor antibody positivity, M... ORPHA:99867
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Immunodeficiency 47
Recurrent bacterial infections, Normocytic anemia, Decreased circulating total IgA, Leukopenia, D... OMIM:300972
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Delayed closure of the anterior fontanelle, Anemia, Calvarial ost... OMIM:244460
Diverticulosis, Small-Intestinal
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis OMIM:223320
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Autoimmunity, Macrocytic anemia, Tubulointerstitial nephritis, Leukop... ORPHA:227990
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Arthritis, Splenomegaly, Giant platelets, Chronic hemo... OMIM:210250
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis, Gout OMIM:232800
Rift Valley Fever
Infectious encephalitis, Hepatitis, Increased circulating IgG level, Uveitis, Increased circulati... ORPHA:319251
Brucellosis
Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Hip osteoarthritis, ... ORPHA:1304
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C... ORPHA:449427
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anem... OMIM:222800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ... OMIM:242860
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Rat-Bite Fever
Myocarditis, Sepsis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia, ... ORPHA:31205
Myasthenia Gravis
Anti-acetylcholine receptor antibody positivity, Myositis, Systemic lupus erythematosus, Hepatiti... ORPHA:589
Coccidioidomycosis
Pericarditis, Folliculitis, Pneumonia, Peritonitis, Panniculitis, Arthritis, Pancreatitis, Osteom... ORPHA:228123
Sickle Cell Anemia
Recurrent bacterial infections, Leukocytosis, Splenomegaly, Increased red cell sickling tendency,... OMIM:603903
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Eczema OMIM:313900
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Autoimmunity, Macrocytic anemia, Tubulointerstitial nephritis, Leukop... ORPHA:227982
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Sepsis, Recurrent bacterial infections, Recurrent fungal infections, R... OMIM:619573
Igg4-Related Thyroid Disease
Hashimoto thyroiditis, Thyroiditis, Increased circulating IgG4 level, Sclerosing cholangitis ORPHA:64744
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... OMIM:617053
Insulin-Resistance Syndrome Type B
Pneumonia, Increased circulating IgA level, Nephritis, Increased circulating IgG level, Decreased... ORPHA:2298
Overlap Myositis
Autoimmunity, Leukopenia, Systemic lupus erythematosus, Arthritis, Rheumatoid arthritis, Subluxat... ORPHA:206572
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... ORPHA:29073
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Cholecysti... OMIM:235700
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Chronic otitis media, Recurrent bronchitis, Decreased circulating anti... ORPHA:1572
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Macrophage Activation Syndrome
Autoimmunity, Neutropenia, Systemic lupus erythematosus, Anemia, Hepatitis, Splenomegaly, Increas... ORPHA:158061
Netherton Syndrome
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin... ORPHA:634
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Panniculitis, Increased circulating IgM level, Skin rash OMIM:617099
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Interstitial pneumonitis, Acute i... ORPHA:723
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6, Episcleritis, Increased circulating IgA level, Epididymitis,... OMIM:256040
Bloom Syndrome
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Malar rash, Dec... OMIM:210900
Prolidase Deficiency
Crusting erythematous dermatitis, Eczema, Recurrent pneumonia, Increased circulating antibody level OMIM:170100
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Neutropenia, Pneumonia, Systemic lupus erythematosus, Recurrent otitis media, Joint... OMIM:607944
Chromomycosis
Keratoconjunctivitis sicca, Ankylosis, Recurrent bacterial infections, Keratitis, Osteolysis ORPHA:182
Zika Virus Disease
Infectious encephalitis, Arthritis, Increased circulating IgM level, Maculopapular exanthema, Ski... ORPHA:448237
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Recurrent aphthous stomatitis, Arthritis, Peritonitis ORPHA:343
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... ORPHA:297
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Primary Ciliary Dyskinesia
Asplenia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Recurrent sinopulmonary infecti... ORPHA:244
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmunity, Psoriasiform dermatitis, Hypoplasia of the thymus, Hepatitis, Recurrent abscess for... ORPHA:436252
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Increased susceptibility to fractures, Osteoporosis, Osteopenia, ... ORPHA:2176
Aspergillosis
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... ORPHA:1163
Glycogen Storage Disease Ib
Recurrent bacterial infections, Neutropenia, Osteoporosis, Gout, Pancreatitis OMIM:232220
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Increased circulating IgA lev... ORPHA:79078
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... OMIM:248500
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Ataxia-Telangiectasia
Sinusitis, Bronchiectasis, Decreased circulating IgA level, Defective B cell differentiation, Dec... OMIM:208900
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... OMIM:109270
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Ebola Hemorrhagic Fever
Increased circulating antibody level, Hepatitis, Acute pancreatitis, Maculopapular exanthema ORPHA:319218
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Osteomyelitis, Increased circulating IgE level, Skin rash ORPHA:2314
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level ORPHA:2902
Hyper-Igd Syndrome
Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Arthritis, Serositis, S... OMIM:260920
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... ORPHA:2442
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... ORPHA:420741
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Recurrent bacterial infections, Inflammation of the large intestine, Abnorma... ORPHA:79259
Nijmegen Breakage Syndrome
Acute leukemia, Recurrent sinopulmonary infections, Recurrent pneumonia, Thrombocytopenia, Recurr... ORPHA:647
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Autoimmunity, Eczema, Bronchiectasis, Autoimmune antibody positivity,... ORPHA:79128
Hereditary Xanthinuria
Recurrent urinary tract infections, Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Crimean-Congo Hemorrhagic Fever
Myocarditis, Epididymitis, Increased circulating IgG level, Parotitis, Increased circulating IgM ... ORPHA:99827
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Recurrent bacterial infections OMIM:241410
Q Fever
Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Cryoglobulinemia, He... ORPHA:781
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Posterior uveitis, Increased circulating IgG level, Anterior uveiti... ORPHA:91500
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Lysinuric Protein Intolerance
Recurrent bacterial infections, Tubulointerstitial nephritis, Leukopenia, Antinuclear antibody po... ORPHA:470
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Bloom Syndrome
Pneumonia, Cheilitis, Rhinitis, Decreased circulating IgA level, Decreased circulating antibody l... ORPHA:125
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Lassa Fever
Increased circulating IgM level, Conjunctivitis ORPHA:99824
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Say-Barber-Miller Syndrome
Eczema, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Decreased ci... ORPHA:3132
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Decreased circulating IgG level, Erythroderma OMIM:601675
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Deep dermal perivascular in... ORPHA:49041
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity OMIM:617303
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Primary Biliary Cholangitis
Increased circulating IgA level, Hepatitis, Increased circulating IgM level, Gastrointestinal inf... ORPHA:186
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgA, Pneumonia, Bronchiectasis, Decreased circulating total IgG, Hepa... OMIM:619381
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregat... ORPHA:79329
Gaucher Disease Type 1
Increased circulating antibody level, Osteoarthritis ORPHA:77259
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Cystic Echinococcosis
Membranous nephropathy, Increased circulating antibody level ORPHA:400
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Dubowitz Syndrome
Decreased circulating IgA level, Eczema, Otitis media, Decreased circulating IgG level OMIM:223370
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level, Tubulointerstitial nephritis, S... ORPHA:330015
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased circulating IgA level, Decreased circulating antibody level,... ORPHA:90363
Scleromyxedema
Paraproteinemia ORPHA:167635
Mevalonic Aciduria
Increased circulating IgD level, Morbilliform rash, Skin rash OMIM:610377
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hypocellularity, Co... ORPHA:505248
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Eczema, Episcleritis, Cheilitis, Recurrent infections, Keratitis,... ORPHA:2273
Alveolar Echinococcosis
Cholangitis, Increased circulating antibody level, Cutaneous abscess ORPHA:284
Cysticercosis
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Viss Syndrome
Atopic dermatitis, Eczema, Decreased circulating IgA level, Chronic gastritis, Increased circulat... OMIM:619472
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Fasciitis, Neuropathic arthropathy, Anemia, Septic arthritis, Ost... ORPHA:642
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level, Infectious encephalitis ORPHA:79139
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Bronchiectasis, Arthritis, Iridocyclitis, Uveitis, Increased... OMIM:181000
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Trichinellosis
Increased circulating IgE level, Skin rash, Conjunctivitis ORPHA:863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Rheumatoid arthritis, Iritis OMIM:108050
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Marburg Hemorrhagic Fever
Pericarditis, Arthritis, Pancreatitis, Increased circulating antibody level, Uveitis, Maculopapul... ORPHA:99826
Primary Sclerosing Cholangitis
Hepatitis, Pancreatitis, Thyroiditis, Uveitis, Ulcerative colitis, Polyclonal elevation of IgM ORPHA:171
Gaucher Disease
Osteoarthritis, Increased circulating antibody level, Hepatitis, Osteomyelitis ORPHA:355
Yellow Fever
Increased circulating interleukin 6, Increased circulating IgM level, Acute pancreatitis, Skin rash ORPHA:99829
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level 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 Fcgr1

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 Fcgr1.

No publications found that use IMPC mice or data for Fcgr1.

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MGI Allele Allele Type Produced
Fcgr1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Fcgr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fcgr1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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