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Gene: Fcer2a MGI:95497

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Fc receptor, IgE, low affinity II, alpha polypeptide
Synonyms:
Ly-42,  Fce2,  low-affinity IgE receptor,  FC epsilon RII,  CD23

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fcer2a 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 Fcer2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, ... OMIM:617638
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large intestine, Crohn's di... OMIM:615767
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Protracted... OMIM:610163
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea... OMIM:300400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... OMIM:615513
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting OMIM:616069
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... OMIM:619220
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Increased circulating IgE level, Recur... ORPHA:277
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... OMIM:613493
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic diarrhea, Chronic... ORPHA:98813
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:617765
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Increased circulating IgE level, Chronic diarrhea, Bronchiectasis, Recurrent o... OMIM:618523
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti... OMIM:612692
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Myeloma, Multiple
Paraproteinemia OMIM:254500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Bloody diarrhea, Erythroderma, Blepharitis OMIM:614328
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin level, Chronic... OMIM:614699
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... OMIM:300310
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... OMIM:619752
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... OMIM:243700
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Increased circulating IgE level, Recurrent pneu... OMIM:618282
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi... OMIM:147060
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level, Increased circu... OMIM:618534
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Di... OMIM:308230
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Increased circulating IgM level,... ORPHA:397596
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Diarrhea, Increased circulating IgG level, Increased ... OMIM:209950
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D... OMIM:618394
Primary Erythromelalgia
Hypothermia ORPHA:90026
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Chronic diarrhea, Agammaglobulinemia, Decreased circulating total IgM, Decre... OMIM:619824
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma OMIM:270300
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Immunodeficiency 62
Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglutinin level, Decreased circul... OMIM:618459
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 85 And Autoimmunity
Eczema, Chronic diarrhea, Oligoarthritis, Decreased circulating total IgM, Decreased circulating ... OMIM:619510
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Increa... ORPHA:449400
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea, Decreased circulatin... OMIM:619281
Schnitzler Syndrome
Increased circulating IgM level, Skin rash, Arthritis ORPHA:37748
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased cir... OMIM:607594
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Diarrhea, Increased circulating IgG level, Increased circulat... ORPHA:83313
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... OMIM:308240
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Chronic diarrhea, Increased cir... ORPHA:169154
Zika Virus Disease
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, V... ORPHA:448237
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Decreased lymphocyte ... OMIM:615592
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh... OMIM:256500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, Increased circulating IgM level, Decreased circul... OMIM:242860
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media OMIM:312863
Riboflavin Deficiency
Hypothermia OMIM:615026
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 48
Diarrhea, Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgG leve... OMIM:616005
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Immunodeficiency, Common Variable, 2
Impaired T cell function, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurren... OMIM:240500
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Increased circulating IgE level, Chronic diarrhea, Hepatitis, Ileus, ... OMIM:304790
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent aphthous stomatitis ORPHA:2688
Angiostrongyliasis
Projectile vomiting, Increased circulating IgA level, Increased circulating specific IgE antibody... ORPHA:74
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Prot... ORPHA:169160
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgA level, Diarrhea, Chronic diarrhea, Increased circulating IgM... OMIM:617099
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Immunodeficiency 22
Pericarditis, Diarrhea, Protracted diarrhea, Decreased circulating total IgM, Panniculitis, Decre... OMIM:615758
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:619924
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... OMIM:606367
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum OMIM:615214
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Increased circulating IgA level, Increased circulating IgG level, In... OMIM:603909
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, Decre... OMIM:614069
Netherton Syndrome
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... ORPHA:634
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Bronchiectasis, Decreased circulat... OMIM:616100
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Increased circulating antibo... ORPHA:90280
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Otitis media, Panhypogammaglobulinemia OMIM:602450
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea, Increased circulating antibody level OMIM:615285
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B... OMIM:241600
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis ORPHA:2902
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Increased circulating IgE le... OMIM:615816
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Lassa Fever
Increased circulating IgM level, Diarrhea, Conjunctivitis, Dysphagia ORPHA:99824
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Increased cir... ORPHA:443811
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglob... OMIM:601457
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Chronic di... OMIM:300755
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Bronchiectasis, Atopic ... ORPHA:436159
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Increased circulating IgG level, Diarrhea, Lymphocytic interstitial pneum... OMIM:618495
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Increased circulating IgE level, Chronic otitis media ORPHA:2314
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Lead Poisoning
Skin rash, Increased circulating IgE level, Abnormality of humoral immunity, Tubulointerstitial n... ORPHA:330015
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Xerostomia, Incre... ORPHA:449432
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusiti... OMIM:615577
Wiskott-Aldrich Syndrome
Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Hematemesis, Diarr... OMIM:301000
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Increased circ... OMIM:618048
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections OMIM:620210
Subcorneal Pustular Dermatosis
Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased circu... ORPHA:275
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Abnormal B cell ... OMIM:619652
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Decreased cir... OMIM:616576
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... ORPHA:3261
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Adult-Onset Nemaline Myopathy
Paraproteinemia, Neuromuscular dysphagia ORPHA:171442
Rift Valley Fever
Skin rash, Hematemesis, Hepatitis, Uveitis, Melena, Increased circulating IgG level, Increased ci... ORPHA:319251
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Diarrhe... ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Lymphadenitis, Decreased circulating antibody level, Protracted diarrhea, Decreased ci... ORPHA:331206
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Arthritis, Membranous nephropathy, Absent isohemagglutinin ... OMIM:615559
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Nausea ORPHA:863
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Tularemia
Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased circulating antibody level, Oti... ORPHA:3392
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Chronic diar... ORPHA:35078
Immunodeficiency 81
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... OMIM:619374
Transcobalamin Ii Deficiency
Diarrhea, Decreased circulating total IgM, Vomiting, Decreased circulating IgG level, Decreased c... OMIM:275350
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Chronic diarrhea, Bronchiec... OMIM:614700
Xq28 (MECP2) duplication
Constipation, Gastroesophageal reflux, Dysphagia, Decreased circulating IgA level DECIPHER:45
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Vomiting, Nausea ORPHA:90003
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr... ORPHA:449395
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... ORPHA:1304
Primary Biliary Cholangitis
Increased circulating IgM level, Gastrointestinal inflammation, Hepatitis, Increased circulating ... ORPHA:186
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Membranoproliferative glomeru... ORPHA:329918
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Menkes Disease
Hypothermia OMIM:309400
Meningococcal Meningitis
Fever, Hypothermia ORPHA:33475
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Recurrent pneumonia, Nephritis, Bone marrow hypocellularity OMIM:617303
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditi... ORPHA:2137
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Diarrhea, Enterocolitis, Decreased circulating antibody level,... OMIM:619802
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... ORPHA:508533
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Peritonitis... ORPHA:343
Timothy Syndrome
Hypothermia OMIM:601005
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia OMIM:618493
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Vomiting, Dysphagia, Abnormalit... ORPHA:297
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... ORPHA:331235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Thyroiditis, Uveitis, Increased circulating IgG level, Keratocon... OMIM:617388
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Malignant Hyperthermia, Susceptibility To, 5
Fever, Malignant hyperthermia OMIM:601887
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Increased circu... ORPHA:228123
Japanese Encephalitis
Diarrhea, Increased circulating IgM level, Increased circulating antibody level, Vomiting, Infect... ORPHA:79139
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroidi... ORPHA:79078
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Increased circulat... ORPHA:449563
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Pneumocystosis
Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody level, Chron... ORPHA:723
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Lymphadenitis, Diarrhea, Chronic diarrhea, Arthritis,... OMIM:260920
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Gastroesophageal reflux, Dysphagia, Decreased circulating IgG le... OMIM:620040
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis, Increased circulating an... OMIM:617591
Primary Intestinal Lymphangiectasia
Chronic diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, Decrease... ORPHA:90362
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Decreased circulating IgG level, Conjunctivitis, Bone marrow hyp... ORPHA:505248
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Eczema, Crusting erythematous dermatitis OMIM:170100
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Hematemesis, Di... ORPHA:99829
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skin rash, Increased circulating IgA level, Pustule, Increased circulating IgG level, P... OMIM:615934
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... ORPHA:221139
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Hypothermia ORPHA:20
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Hematemesis, Diarrhea,... ORPHA:99827
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Cryoglobulinemia, Diarrhea, Monoclonal immunoglobulin M proteinemia ORPHA:33226
Riddle Syndrome
Pneumonia, Diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Arthritis, Otitis medi... ORPHA:420741
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia OMIM:608643
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Primary Sclerosing Cholangitis
Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Polyclonal elevation of IgM, Pancreatitis ORPHA:171
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Intestinal obstruction, Chronic diarrhea, Decreased circulating... ORPHA:90363
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating total IgM, Chronic constipation, Decr... ORPHA:79330
Encephalitis Lethargica
Increased circulating antibody level, Bowel incontinence ORPHA:83600
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Skin rash, Recurrent skin infections, ... OMIM:619381
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:607143
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Hypothermia ORPHA:99027
Immunodeficiency 47
Decreased circulating total IgG, Chronic diarrhea, Decreased circulating antibody level, Decrease... OMIM:300972
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Decreased circulating total IgM, Constipation, Eczema OMIM:618162
Alexander Disease
Hypothermia ORPHA:58
Scleromyxedema
Paraproteinemia, Gastroesophageal reflux, Dysphagia, Hypoperistalsis ORPHA:167635
Neuroleptic Malignant Syndrome
Fever, Hypothermia ORPHA:94093
Ethylene Glycol Poisoning
Hypothermia ORPHA:31826
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia ORPHA:90674
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hypothermia ORPHA:255210
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard... ORPHA:781
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia ORPHA:17
Bloom Syndrome
Skin rash, Pneumonia, Cheilitis, Uveitis, Decreased circulating antibody level, Decreased circula... ORPHA:125
Celiac Disease, Susceptibility To, 1
Eczema, Diarrhea, Thyroiditis, Vomiting, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, ... OMIM:212750
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia ORPHA:79282
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Igg4-Related Pachymeningitis
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement deficiency, Nep... ORPHA:449427
Bloom Syndrome
Bronchiectasis, Malar rash, Decreased circulating total IgM, Decreased circulating IgG level, Dec... OMIM:210900
Mevalonic Aciduria
Skin rash, Diarrhea, Vomiting, Morbilliform rash, Increased circulating IgD level OMIM:610377
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Thyroiditis, Sclerosing cholangitis, Dysphagia, Hashimoto thyro... ORPHA:64744
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Gaucher Disease Type 1
Osteoarthritis, Increased circulating antibody level ORPHA:77259
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase... ORPHA:540
Menkes Disease
Hypothermia ORPHA:565
Viss Syndrome
Chronic gastritis, Eczema, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, ... OMIM:619472
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Dysphagia OMIM:606002
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Cystic Echinococcosis
Membranous nephropathy, Increased circulating antibody level ORPHA:400
Okur-Chung Neurodevelopmental Syndrome
Pachygyria, Simplified gyral pattern, Decreased circulating antibody level, Constipation, Decreas... OMIM:617062
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Xerostomia, Increased circulating antibody level, Dys... ORPHA:85443
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis, Diarrhea, Hepatitis, Atopic de... OMIM:615846
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia OMIM:218700
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Chronic diarrhea, Bronchiectasis, Decreased circulati... OMIM:208900
Alveolar Echinococcosis
Vomiting, Increased circulating antibody level, Cholangitis, Cutaneous abscess ORPHA:284
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia ORPHA:226307
Occipital Horn Syndrome
Hypothermia ORPHA:198
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Hypothermia ORPHA:293987
Marburg Hemorrhagic Fever
Fever, Hypothermia ORPHA:99826
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... ORPHA:2298
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Gastroesophageal reflux, Decreased circulating IgA level ORPHA:369837
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation... OMIM:181000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Exocrine pancreatic insufficien... OMIM:620005
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent fever, Hypothermia, Unexplained fevers ORPHA:642
Lysinuric Protein Intolerance
Glomerulonephritis, Diarrhea, Decreased circulating antibody level, Abnormality of humoral immuni... ORPHA:470
Sarcoidosis
Fever, Hypothermia ORPHA:797
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia ORPHA:438213
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Scleritis, Increased... ORPHA:91500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Superficial dermal perivascular inflammatory infiltrate, Eczema,... ORPHA:83617
Gaucher Disease
Osteomyelitis, Osteoarthritis, Hepatitis, Increased circulating antibody level, Dysphagia ORPHA:355
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983

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 Fcer2a

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 Fcer2a.

No publications found that use IMPC mice or data for Fcer2a.

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
Fcer2atm447786(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fcer2atm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Fcer2atm208555(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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