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
Chronic decreased circulating total IgG, Abnormal T cell count, Antinuclear antibody positivity, ... OMIM:613495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ... OMIM:614372
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Immunodeficiency 24
Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... OMIM:615897
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop... OMIM:616022
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent otitis media, Splenomegaly, ... ORPHA:444463
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Anti-smooth muscle antibody positivity... OMIM:610163
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... OMIM:612692
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Immunodeficiency 116
Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi... OMIM:608957
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, Ski... ORPHA:572
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Recurrent pneumonia, Systemic lupus erythematosus, Membranoproliferative g... OMIM:613779
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in... OMIM:618534
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency, Common Variable, 2
Decreased circulating total IgM, Recurrent otitis media, Partial absence of specific antibody res... OMIM:240500
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... OMIM:616873
Congenital Atransferrinemia
Recurrent infections, Arthritis, Anemia ORPHA:1195
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... OMIM:607594
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent viral infections, BCGitis, Recurrent mycobacterium avium c... OMIM:614892
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent infection of the gastrointestinal tract, Autoimmunity, Recurrent ... OMIM:137100
Complement Component C1R/C1S Deficiency
Recurrent bronchitis, Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:618944
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Anti-smooth muscle antibody positi... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Antinuclear antibody pos... OMIM:615559
Immunodeficiency 84
Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in... OMIM:619437
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t... OMIM:614868
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Persistent CMV viremia, Increased circulatin... OMIM:618495
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Crohn's diseas... OMIM:616100
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgG level, Recurrent s... OMIM:617765
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections, Recurrent ur... OMIM:209920
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Recurrent sinusitis, Increased circulating IgG level, Decreased circulati... ORPHA:98813
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Reduced antigen-specific T cell prolifer... ORPHA:331206
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 67
Abnormal natural killer cell count, Increased circulating IgE level, Complete or near-complete ab... OMIM:607676
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Decreased circulating IgG level, ... OMIM:300400
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp... ORPHA:231154
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... ORPHA:2688
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Recurrent sinusitis, Decreased circulating total IgM, Agammaglob... OMIM:619707
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Complete or near-complete absence of specific antibody response... OMIM:613496
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Recurrent infections, B lymphocytopenia, Post-vaccination polio, Agammagl... OMIM:616941
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections OMIM:615561
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Anti-smooth muscle antibody positivity, Increased circulating IgG level, Nephritis,... OMIM:603909
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Re... OMIM:612783
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the s... OMIM:618048
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Chronic oral candidiasis, Hepatosp... ORPHA:911
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Recurrent otitis media, Recurrent l... OMIM:620430
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Persistent CMV viremia, Recur... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Abnormal circulating IgG level, Recurrent... OMIM:615615
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurrent mycobacteri... OMIM:615978
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Persistent EBV vir... OMIM:615387
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Recurrent bac... OMIM:619693
Myeloma, Multiple
Paraproteinemia OMIM:254500
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne... OMIM:300299
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Stomatitis, Recurrent infect... OMIM:613011
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis OMIM:300988
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Colonic eosinophilia, Bronchiectas... OMIM:617638
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Pancytopenia, Lymphocytos... OMIM:614470
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent... OMIM:615214
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... OMIM:614493
Immunodeficiency 109 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased spe... OMIM:620282
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased circulatin... OMIM:619802
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Re... ORPHA:397596
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Immunodeficiency 27A
Increased circulating IgG level, Salmonella osteomyelitis, Increased circulating IgM level, Pneum... OMIM:209950
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Polyarticular arthriti... OMIM:615952
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent opportunisti... OMIM:613179
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis... ORPHA:486
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Crohn's disease, Inflammation o... OMIM:615767
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Anemia, Pneumocystis carinii pneumonia, Recurrent lower respirato... OMIM:620321
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Furuncle, Recurrent sinusi... OMIM:618969
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Recurr... OMIM:619281
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Bronchiectasis, Increased circulating IgM level, Decreased circulating IgG2 level, Decreased spec... OMIM:615513
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media OMIM:312863
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Recurrent respiratory infections, Skin rash, Abnormal lympho... ORPHA:100026
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Recurrent viral infections, Thrombocytopenia, Splenomegaly, Recurre... ORPHA:169090
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG... OMIM:102700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233710
Transcobalamin Deficiency
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... ORPHA:859
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233690
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me... OMIM:617780
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Papa Syndrome
Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increa... ORPHA:69126
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, Optic neuritis, Complete or near-complete absence of specific antibody response to ... OMIM:301081
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Recurrent respiratory infections, Minimal change glomerulonephritis,... OMIM:620565
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections, Sepsis ORPHA:36237
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Sepsis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent skin inf... OMIM:612840
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Decreased circulating IgG level, Decreased circu... OMIM:619924
Chilblain Lupus
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn... ORPHA:90280
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Joint hypermobility, Persistent EBV viremia, Increase... OMIM:615816
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Anti-U1 ribonucleoprotein antibody positivity, Anti-dsDNA antib... OMIM:619375
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly... ORPHA:229717
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Eczematoid dermatitis, Decreased circulat... OMIM:619774
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Recurrent gastroenter... ORPHA:37042
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Reduced antigen-specific T cel... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:169154
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections OMIM:609536
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema, Skin rash ORPHA:83313
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Polyarticular arthritis, Increased circulating IgG level, Thyroiditi... OMIM:617388
Specific Granule Deficiency 2
Osteopenia, Sepsis, Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent... OMIM:617475
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Crohn's disease, Decreased circulating IgG level, Bronchiectasis, Decr... OMIM:618394
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgE, Partial absence of specific antibody response to tetanus vaccine, Decr... OMIM:619824
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Colitis OMIM:616098
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Increased circulating IgE level, Lack of T cell function, Sinusitis, Recu... ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Decreased circulati... ORPHA:169160
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Felty Syndrome
Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Osteoly... ORPHA:47612
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Pancytopenia, Arthritis, Sterile arthritis, Elbow flexion contracture, ... OMIM:604416
Autoimmune Hepatitis
Increased circulating antibody level, Sclerosing cholangitis, Increased circulating IgG level, Th... ORPHA:2137
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased... OMIM:300291
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutaneous abscess, Atopic der... OMIM:619752
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilic infiltration of the esophagus, Recurrent skin infections, Increased circulating IgE ... OMIM:620532
Omenn Syndrome
Anemia, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus, Severe B lymphocytopenia, Recu... OMIM:603554
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Recurrent respiratory infections, Decrea... ORPHA:760
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level OMIM:611926
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ... ORPHA:33110
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... OMIM:301000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating IgG level, Pneumonia, Decreased circu... OMIM:614069
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Polyarticular arthritis, Arthr... ORPHA:85435
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lupus anticoagulant, Polyarticular arthritis, Skin rash, Antinuclear antibody positivity, Thrombo... OMIM:616744
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, Persistent EBV viremia, T lymphocytop... OMIM:619510
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Increased circulating IgE level, Chronic mucocu... OMIM:618282
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Recurrent infections, Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent s... OMIM:116920
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Pyoderma, Enterov... OMIM:300755
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus... ORPHA:48377
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Immunodeficiency 43
Bronchiectasis, Decreased circulating IgG level, Abnormal circulating IgA level, Abnormal circula... OMIM:241600
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Ecze... OMIM:304790
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:243150
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Bronchiectasis, Decreased circulating total IgM... OMIM:619705
Immunodeficiency 92
Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Partial absence of specific a... OMIM:619652
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Increased circulating IgE level, Recurrent bacterial skin infections, Atopi... ORPHA:217390
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Malar rash, Increased circulating IgA level, Skin rash, Myositis... OMIM:615934
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Recurrent tonsillitis, Recurrent infections, Crohn's disease, Acute pancreatiti... OMIM:618935
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:306400
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Autoimmunity, Skin rash, Systemic lupus erythematosus ORPHA:90036
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Paroxysmal Cold Hemoglobinuria
Autoimmune hemolytic anemia, Recurrent respiratory infections, Coombs-positive hemolytic anemia ORPHA:90035
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Severe varicell... ORPHA:48435
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Decreased circulating IgG level, Recurrent sinusitis, Recurrent pneumonia... OMIM:615577
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Osteopenia, Impaired lymphocyte transforma... OMIM:614162
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleritis, Splen... ORPHA:36412
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Arthritis, Skin rash, Meningitis, Sinusitis, Recurrent pneu... ORPHA:47
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Arthritis, Monoclonal elevation of circulating IgA, Viral hepatitis,... ORPHA:91139
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Increased circulating IgE level OMIM:212050
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Fulminant hepatitis, Decreased circulating antibody level, Decreased circul... OMIM:308240
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Juvenile rheumatoid arthritis, Pancytopenia, Anti-dsDNA antibody pos... ORPHA:1855
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Arthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Antinucl... ORPHA:85410
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus OMIM:609939
Immunodeficiency 32B
Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Pneumonia, Impaired oxidative burst OMIM:226990
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections OMIM:620210
Whim Syndrome
Sepsis, Severe periodontitis, Parotitis, Decreased circulating antibody level, Lymphadenitis, Abn... ORPHA:51636
Immunodeficiency 68
Sepsis, Abnormal natural killer cell count, B lymphocytopenia, Recurrent meningitis, Lymphadeniti... OMIM:612260
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis ORPHA:90368
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Chronic oral candidiasis, Decreased circulating total IgG, B lymphocytopenia, Arthrit... ORPHA:221139
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Generalized osteoporosis, Lymphopenia, Recurrent Aspergillus infections, Thyroiditis, Recurrent h... ORPHA:391487
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Recurrent ... OMIM:608233
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In... OMIM:618213
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus ORPHA:399180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive ORPHA:79099
Peeling Skin Syndrome 1
Erythroderma, Increased circulating IgE level OMIM:270300
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Tularemia
Pneumonia, Increased circulating antibody level, Inflammatory abnormality of the eye, Skin rash, ... ORPHA:3392
Netherton Syndrome
Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circulating I... OMIM:256500
Systemic-Onset Juvenile Idiopathic Arthritis
Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis, Joint swelling, Autoimmunity,... ORPHA:85414
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Igg4-Related Submandibular Gland Disease
Prostatitis, Cholangitis, Increased circulating antibody level, Increased circulating IgG level, ... ORPHA:449432
Schnitzler Syndrome
Arthritis, Increased circulating IgM level, Skin rash ORPHA:37748
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Pustule, Neutrophilic i... ORPHA:555905
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency 22
Chronic oral candidiasis, Panniculitis, Decreased circulating IgE, Decreased circulating IgG leve... OMIM:615758
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Panniculitis, Myositis, Flexion contracture, Splenomegaly OMIM:619183
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Recurrent bacterial ... OMIM:603585
Igg4-Related Kidney Disease
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... ORPHA:449395
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Panniculitis, Myositis, Arthritis, Skin rash, Recur... OMIM:617591
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Atopic dermatitis OMIM:620603
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Splenomegaly, Systemic lupus erythematos... ORPHA:90033
Idiopathic Bronchiectasis
Acute infectious pneumonia, Recurrent Haemophilus influenzae infections, Recurrent lower respirat... ORPHA:60033
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce... ORPHA:811
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:562639
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Neonatal sepsis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Hepatosple... OMIM:612541
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Abnormality of the wrist, Anemia, Hip osteoarthritis, Synovial lining hyperplasia... ORPHA:85408
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Periodontitis, Recurrent infections, Recurrent systemic pyogenic infect... OMIM:214500
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Decreased circulating complement C3 concentration, Decr... ORPHA:329918
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Immunodeficiency 9
Recurrent aphthous stomatitis, Stomatitis, Decreased circulating IgG level, Decreased circulating... OMIM:612782
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Recurrent infections, Chron... OMIM:300972
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Skin rash, Abnormal platelet function, Recurrent bacterial skin in... ORPHA:167
Rift Valley Fever
Increased circulating IgG level, Skin rash, Increased circulating IgM level, Hepatitis, Infectiou... ORPHA:319251
Thymoma
Aplastic anemia, Myositis, Decreased circulating antibody level, Rheumatoid arthritis, Pure red c... ORPHA:99867
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Decreased skull ossification, Delayed closure of the anterior f... OMIM:244460
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Skin rash, Lack of T cell function, Partial IgA def... ORPHA:35078
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Osteopenia, Non-caseating epithelioid cell granulomatosis, Macr... ORPHA:227990
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Polyarticular arthritis, Rheumatoid factor positi... OMIM:180300
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Infectious encephalitis, Conjunc... ORPHA:448237
Sickle Cell Disease
Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Increased red cell sickling tendenc... OMIM:603903
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Rec... OMIM:251260
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Reticulocytosis, Splenom... OMIM:235700
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Ne... OMIM:619573
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri... ORPHA:228123
Brucellosis
Myocarditis, Hip osteoarthritis, Arteritis, Increased circulating IgG level, Knee osteoarthritis,... ORPHA:1304
Mirage Syndrome
Sepsis, Anemia, Recurrent urinary tract infections, Aspiration pneumonia, Hypoplastic spleen, Thr... OMIM:617053
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased circulating IgA ... OMIM:242860
Rat-Bite Fever
Morbilliform rash, Myocarditis, Sepsis, Anemia, Pancreatitis, Arthritis, Skin rash, Parotitis, Me... ORPHA:31205
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Osteopenia, Non-caseating epithelioid cell granulomatosis, Macr... ORPHA:227982
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Sinusitis, ... ORPHA:449427
Igg4-Related Thyroid Disease
Thyroiditis, Increased circulating IgG4 level, Hashimoto thyroiditis, Sclerosing cholangitis ORPHA:64744
Pneumocystosis
Acute infectious pneumonia, Chronic oral candidiasis, Interstitial pneumonitis, Increased circula... ORPHA:723
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Skin rash, Eczematoid derm... ORPHA:634
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Eczematoid dermatitis OMIM:313900
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Rheumatoid factor positive, Inflammation of the large intestine, Sacroiliac a... OMIM:106300
Myasthenia Gravis
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hashimoto thyroidi... ORPHA:589
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Increased circulating IgA level, Skin rash, Decreased circulatin... ORPHA:2298
Overlap Myositis
Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis, Antinuclear antibod... ORPHA:206572
Prolidase Deficiency
Eczematoid dermatitis, Recurrent pneumonia, Increased circulating antibody level, Crusting erythe... OMIM:170100
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level, Panniculitis, Skin rash OMIM:617099
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Recurrent bronchitis, Decreased circulati... ORPHA:1572
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocyto... OMIM:242840
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Leukocytosis, Lymphadenitis, Eczematoid dermatitis, Inflammation of the large intestine, ... OMIM:615895
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Recurrent in... ORPHA:232
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased inflammatory response, Th... ORPHA:158061
Aspergillosis
Increased circulating IgE level, Bronchiectasis, Sinusitis, Osteomyelitis, Keratitis, Pneumonia, ... ORPHA:1163
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Panniculitis, Increased circulating antibody level, Increased circulating... OMIM:256040
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Chronic rhinitis, Polysplenia, Asplenia, Recurrent ... ORPHA:244
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Increased circulating IgA level, Recurrent aphthous stomatitis, Peritonitis ORPHA:343
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Recurrent respiratory infections, Lymphope... OMIM:607944
Chromomycosis
Keratitis, Osteolysis, Ankylosis, Recurrent bacterial infections, Keratoconjunctivitis sicca ORPHA:182
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Recurrent abscess formation, Hypoplasia of the thymus, Hashimoto thy... ORPHA:436252
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Myelitis, Abnormal circulating ... ORPHA:297
Infantile Systemic Hyalinosis
Osteopenia, Recurrent bacterial infections, Osteoporosis, Joint stiffness, Camptodactyly of finge... ORPHA:2176
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis ORPHA:2902
Glycogen Storage Disease Ib
Pancreatitis, Osteoporosis, Inflammation of the large intestine, Splenomegaly, Gout, Recurrent ba... OMIM:232220
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephritis, Increased c... ORPHA:79078
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Eosinophilic infiltration of the esophagus, Erythroderma, Recurr... OMIM:615508
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Increased circulating antibody level, Maculopapular exanthema ORPHA:319218
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Thyroiditis, Increased circulating IgE level, Sinusitis, ... ORPHA:449563
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly, Recurrent bacterial i... OMIM:248500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Increased circulating IgE level, Otitis media, Panhypogammaglobulinemia OMIM:602450
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Increased circulating IgE level, Skin rash, Eczematoid dermatitis, Osteomye... ORPHA:2314
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:90362
Lymphoid Interstitial Pneumonia
Skin rash, Eczematoid dermatitis, Rheumatoid arthritis, Severe viral infection, Autoimmune antibo... ORPHA:79128
Hyper-Igd Syndrome
Chronic oral candidiasis, Arthritis, Increased circulating IgA level, Skin rash, Lymphadenitis, I... OMIM:260920
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Joint hypermobi... OMIM:147060
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Anemia, Pancreatitis, Periodontitis, Thyroiditis, Chronic neutropenia, Osteoporosis, ... ORPHA:79259
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level, Skin rash, Posterior uveit... ORPHA:91500
Lysinuric Protein Intolerance
Osteopenia, Anemia, Hemophagocytosis, Increased circulating antibody level, Pancreatitis, Decreas... ORPHA:470
Hereditary Xanthinuria
Rheumatoid arthritis, Recurrent urinary tract infections, Arthropathy, Gout ORPHA:3467
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:607143
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Q Fever
Myocarditis, Increased circulating antibody level, Hepatitis, Cryoglobulinemia, Pericarditis, Ost... ORPHA:781
Riddle Syndrome
Arthritis, Decreased circulating IgG level, Recurrent sinusitis, Recurrent pneumonia, Otitis medi... ORPHA:420741
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Myocarditis, Increased circulating IgG level, Parotitis, Acute pancreatitis, I... ORPHA:99827
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:620040
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Recurrent pneumonia, Thrombocytopenia, Recurrent sin... ORPHA:647
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Cystic Fibrosis
Osteopenia, Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus inf... ORPHA:586
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612301
Lassa Fever
Increased circulating IgM level, Conjunctivitis ORPHA:99824
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Patchy osteosclerosis OMIM:241410
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:79330
Bloom Syndrome
Cheilitis, Skin rash, Decreased circulating antibody level, Decreased circulating IgG level, Rhin... ORPHA:125
Primary Sjögren Syndrome
Decreased circulating complement C3 concentration, Increased circulating antibody level, Arteriti... ORPHA:289390
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Recurrent otitis media, Gastritis, Decreased lymphocyte prolifer... OMIM:619381
Bloom Syndrome
Malar rash, Decreased circulating IgG level, Bronchiectasis, Decreased circulating total IgM, Dec... OMIM:210900
Say-Barber-Miller Syndrome
Panniculitis, Decreased circulating antibody level, Eczematoid dermatitis, Transient hypogammaglo... ORPHA:3132
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Anti-smooth muscle antibody positivity, Deep dermal perivascular inflammatory ... ORPHA:49041
Ataxia-Telangiectasia
Sinusitis, Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Decr... OMIM:208900
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Arthritis, Parotitis, Atopic dermatitis, Abnor... OMIM:620376
Trichothiodystrophy 1, Photosensitive
Erythroderma, Decreased circulating IgG level, Keratoconjunctivitis sicca OMIM:601675
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity, Tubulointerstitial nephritis, S... ORPHA:330015
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level, Nephritis, Recurrent pneumonia OMIM:617303
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:508533
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Mgat2-Cdg
Impaired platelet aggregation, Decreased circulating IgG level, Decreased circulating antibody le... ORPHA:79329
Cystic Echinococcosis
Membranous nephropathy, Increased circulating antibody level ORPHA:400
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Pericarditis OMIM:212065
Mevalonic Aciduria
Morbilliform rash, Skin rash, Increased circulating IgD level OMIM:610377
Cysticercosis
Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo... ORPHA:1560
Scleromyxedema
Paraproteinemia ORPHA:167635
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating IgG1 level, Decreased circulating tot... ORPHA:90363
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Patent Urachus
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections ORPHA:431341
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Arthritis, Skin rash, Chilblains, Atopic dermatitis, Atroph... OMIM:615846
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Infectious encephalitis ORPHA:79139
Viss Syndrome
Increased circulating IgG level, Chronic gastritis, Increased circulating IgE level, Atopic derma... OMIM:619472
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... OMIM:617062
Gaucher Disease Type 1
Osteoarthritis, Increased circulating antibody level ORPHA:77259
Alveolar Echinococcosis
Cholangitis, Increased circulating antibody level, Cutaneous abscess ORPHA:284
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Recurrent infections, Episcleritis, Eczematoid dermatitis, Blepharitis, Camptodactyly ... ORPHA:2273
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Otitis media, Eczematoid dermat... OMIM:223370
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Arthritis, Bronchiectasis, Inflammation of the large intest... OMIM:181000
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Recurrent bacterial infections ORPHA:99104
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulating IgG level, Co... ORPHA:505248
Trichinellosis
Conjunctivitis, Increased circulating IgE level, Skin rash ORPHA:863
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Primary Biliary Cholangitis
Gastrointestinal inflammation, Increased circulating IgA level, Increased circulating IgM level, ... ORPHA:186
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Hereditary Sensory And Autonomic Neuropathy Type 4
Neuropathic arthropathy, Abnormality of lower limb joint, Anemia, Recurrent Staphylococcus aureus... ORPHA:642
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Recurrent bacterial infections ORPHA:99103
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Progressive flexion contractures ORPHA:98808
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:620005
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Marburg Hemorrhagic Fever
Pancreatitis, Increased circulating antibody level, Arthritis, Skin rash, Pericarditis, Orchitis,... ORPHA:99826
Primary Sclerosing Cholangitis
Pancreatitis, Thyroiditis, Ulcerative colitis, Polyclonal elevation of IgM, Hepatitis, Uveitis ORPHA:171
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level OMIM:618278
Gaucher Disease
Increased circulating antibody level, Osteoarthritis, Polyclonal elevation of IgM, Hepatitis, Ost... ORPHA:355
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level, Acute pancrea... ORPHA:99829
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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