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Gene: Otud7b MGI:2654703

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Gene Summary

Name:
OTU domain containing 7B
Synonyms:
4930463P07Rik,  Za20d1,  2900060B22Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Otud7btm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Eye Morphology

Images Slit Lamp

3 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

11 Images

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Legacy Phenotype Associated Images
Otud7btm1b(EUCOMM)Wtsi
HET, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
HET, Male, WTSI
Otud7btm1b(EUCOMM)Wtsi
HET, Male, WTSI

View all 133 images

Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
abnormal digit morphology, HET, Male, WTSI
Otud7btm1b(EUCOMM)Wtsi
head, WT, Female, WTSI

View all 10 images

Otud7btm1b(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
abnormal cornea morphology, HET, Male, WTSI
Otud7btm1b(EUCOMM)Wtsi
fused cornea and lens, HET, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Otud7b 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 Otud7b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating antibody level, Increased circulating IgG level... ORPHA:169154
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Recurrent infections... OMIM:618982
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Eosinophilia, Complete or near-com... OMIM:610163
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Immunodeficiency 33
Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... OMIM:613501
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... OMIM:609529
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Abnormal circulating IgM level, Recurrent vir... OMIM:618048
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... OMIM:615285
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent si... OMIM:607271
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... OMIM:300400
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Autoimmune Lymphoproliferative Syndrome, Type Iii
Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-/low B cells, ... OMIM:615559
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, B lymphocytopenia, Recurrent otitis media OMIM:616941
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci... OMIM:308230
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... OMIM:137100
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Lymphopenia, Recurrent upper respiratory tract infect... ORPHA:277
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B ... OMIM:212050
Immunodeficiency 95
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... OMIM:619773
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... ORPHA:331206
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... OMIM:300988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Severe r... ORPHA:276
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased circulating IgG level, Decreased proportion of class-switched memory... OMIM:615767
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... ORPHA:169160
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... OMIM:616005
Immunodeficiency 48
Recurrent candida infections, Failure to thrive, Splenomegaly, Panhypogammaglobulinemia, Absence ... OMIM:269840
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... ORPHA:443811
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia,... OMIM:617514
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Recurrent infections, Lymphadenopathy, ... OMIM:618261
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent... OMIM:616022
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG le... OMIM:618495
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... OMIM:616636
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, L... ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si... OMIM:618969
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Increased circulating IgA level, Lymphopenia, Leukopenia, Follicular hyperplas... OMIM:615934
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... ORPHA:70593
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:618394
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Sepsis, Decreased circulating antibody level, Interm... OMIM:616740
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Recurrent opportunistic infections, B lymphocytopenia, T lymphocytopenia, Panh... OMIM:601457
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level... OMIM:617388
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen... ORPHA:217390
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Decr... OMIM:616100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Failure to thrive, Decreased circulating IgA level,... OMIM:617744
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... OMIM:618204
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections, Absent circulating B cells, Agammaglobulinemia... OMIM:619693
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Lymphopenia, Recurrent infections, Neutropenia OMIM:616395
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Spl... OMIM:102700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Wiskott-Aldrich Syndrome
Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Pan... OMIM:601495
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... OMIM:308240
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilia, Decreased circulating total IgM, Recurrent bacterial i... OMIM:243700
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... OMIM:260920
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM, Bronchiolitis, Decreased propor... OMIM:614878
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Recurrent respiratory infections, B lymphocytopenia, T lymphocytopenia, Decrea... OMIM:618108
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... ORPHA:3261
Immunodeficiency 15B
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level OMIM:615592
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, T lymphocytopenia, Recurre... OMIM:618986
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell recept... OMIM:602450
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619752
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Recurrent otitis m... OMIM:600802
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Enterov... OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Pancytopenia, Lym... OMIM:614700
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, Recurrent pneumonia... OMIM:147060
Iga Pemphigus
Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... ORPHA:572
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia... OMIM:615577
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections, Obesity OMIM:605309
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Thrombocytopenia 1
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... OMIM:313900
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Weight loss, Decr... ORPHA:29073
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Recurrent viral i... OMIM:209920
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chro... ORPHA:91139
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b... OMIM:619164
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... OMIM:275350
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos... OMIM:301078
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology, Small for gestational age OMIM:215250
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Omenn Syndrome
Failure to thrive, Recurrent fungal infections, Splenomegaly, Eosinophilia, Hypoplasia of the thy... OMIM:603554
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Increased circulating IgA level ORPHA:343
Xq28 (MECP2) duplication
Failure to thrive, Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Myeloma, Multiple
Paraproteinemia OMIM:254500
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, W... ORPHA:507
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level, Recurrent respiratory infections, Recurrent otitis... OMIM:618523
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas... OMIM:617062
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Recurrent enteroviral infections, Hepatosplenomegaly, Recurrent absces... ORPHA:79124
Insulin-Resistance Syndrome Type B
Decreased body weight, Decreased serum complement factor B, Increased circulating IgA level, Leuk... ORPHA:2298
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Increased circulatin... ORPHA:186
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
Postinfectious Vasculitis
Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum... ORPHA:48435
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Hypereosinophilia, Recurrent infections, Incr... OMIM:256500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Lymphadenitis, Decrease... ORPHA:331235
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... OMIM:615518
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, T lymphocytopenia, Increased circulating IgM ... OMIM:242860
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, T... OMIM:615607
Dyskeratosis Congenita, Digenic
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:620040
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Failure to thrive, Lymphopenia, Splenomegaly, Recurrent inf... OMIM:617591
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Decrease... ORPHA:183675
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Immunodeficiency 23
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Recurrent... OMIM:615816
Immunodeficiency 47
Failure to thrive, Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM... OMIM:300972
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:90362
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, We... ORPHA:449400
Prolidase Deficiency
Increased circulating antibody level, Failure to thrive, Splenomegaly, Recurrent infections, Recu... OMIM:170100
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia,... OMIM:208900
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgG4 level, Increased circulating IgM leve... ORPHA:79078
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Tularemia
Increased circulating antibody level, Leukocytosis, Anemia, Cervical lymphadenopathy, Brain absce... ORPHA:3392
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, B lymphocytopenia, T ... ORPHA:231154
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Inflammatory Pseudotumor Of The Liver
Weight loss, Increased hepatitis B virus antibody level ORPHA:90003
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Recurrent infections, Paraproteinemia ORPHA:329918
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, N... OMIM:304790
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased ci... OMIM:618213
Alg12-Cdg
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Pneumocystosis
Increased circulating antibody level, Weight loss, Abnormal neutrophil count, Chronic oral candid... ORPHA:723
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:612301
Immunodeficiency 68
Sepsis, Abscess, Lymphadenitis, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cel... OMIM:612260
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... ORPHA:83313
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia, Failure to thrive in ... OMIM:613385
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Smith-Kingsmore Syndrome
Large for gestational age, Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Bloom Syndrome
Recurrent gastroenteritis, Abdominal obesity, Decreased circulating IgA level, Abnormal proportio... ORPHA:125
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Caffey Disease
Increased circulating antibody level ORPHA:1310
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level OMIM:614328
Mevalonic Aciduria
Failure to thrive, Leukocytosis, Fluctuating splenomegaly, Increased circulating IgD level, Normo... OMIM:610377
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss, Hypereosinophilia, Leukocytosis ORPHA:2902
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level, Obesity, Smal... ORPHA:86816
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:420741
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... OMIM:619381
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Leukopenia, Sepsis, Thrombocytopenia ORPHA:319218
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Decreased circulating IgA level, Splenomegaly, Recurrent pneumonia, Recurrent ... OMIM:613327
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Splenomegaly, Leukopenia, Sepsis, Patent ductus arteriosus... OMIM:617303
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Recurrent infections, Recu... ORPHA:634
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Severe B lymphocyt... OMIM:620005
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Small for gestational age, Elev... OMIM:210900
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level ORPHA:457485
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:79330
Urban-Rogers-Meyer Syndrome
Obesity, Increased circulating IgE level ORPHA:3409
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Th... OMIM:212750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Ca... ORPHA:37042
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat... ORPHA:90363
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Increased circulating IgE level, Recurrent infections, Recurrent respiratory infect... ORPHA:2314
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Cystic Echinococcosis
Increased circulating antibody level, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst, We... ORPHA:400
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Complement deficiency, Eosinophilia, Increased circulating ... ORPHA:449432
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Gaucher Disease Type 1
Increased circulating antibody level, Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... ORPHA:77259
Lassa Fever
Sepsis, Increased circulating IgM level ORPHA:99824
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia OMIM:208910
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Thrombocytosis, Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Poems Syndrome
Increased circulating antibody level, Polycythemia, Thrombocytosis, Weight loss, Lymphadenopathy ORPHA:2905
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly ORPHA:2137
Q Fever
Increased circulating antibody level, Splenomegaly, Cryoglobulinemia, Hepatosplenomegaly, Weight ... ORPHA:781
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Sepsi... ORPHA:505248
Monosomy 18Q
Slender build, Failure to thrive, Decreased circulating IgA level, Patent ductus arteriosus ORPHA:1600
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia... ORPHA:284
Lead Poisoning
Small for gestational age, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Anem... ORPHA:330015
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... ORPHA:508533
Gaucher Disease Type 3
Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Recur... ORPHA:77261
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Aplastic anemia, Recurrent infe... OMIM:223370
Aspergillosis
Eosinophilia, Increased circulating IgE level, Neutropenia ORPHA:1163
Brucellosis
Failure to thrive, Leukocytosis, Splenomegaly, Small for gestational age, Leukopenia, Increased c... ORPHA:1304
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Splenomegaly, Hemolytic anemia, Recurrent lower respiratory... OMIM:615846
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Obesity, Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Al Amyloidosis
Increased circulating antibody level, Anemia, Weight loss, Howell-Jolly bodies ORPHA:85443
Lysinuric Protein Intolerance
Increased circulating antibody level, Failure to thrive, Hemophagocytosis, Complement deficiency,... ORPHA:470
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Decreased serum complement C3, Complement deficiency, Decreased... ORPHA:449395
Primary Sjögren Syndrome
Increased circulating antibody level, Lymphopenia, Decreased serum complement C3, Complement defi... ORPHA:289390
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Splenomegaly, Mediastinal lymphadenopathy, Generalized lymp... OMIM:181000
Scleromyxedema
Paraproteinemia ORPHA:167635
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of serum cytokine level, I... ORPHA:297
Japanese Encephalitis
Increased circulating antibody level, Neutrophilia, Increased circulating IgM level ORPHA:79139
Rift Valley Fever
Increased circulating IgM level, Anemia, Thrombocytopenia, Increased circulating IgG level ORPHA:319251
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, Mediastinal ly... ORPHA:228123
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Marburg Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Ne... ORPHA:99826
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:449563
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Increased ... ORPHA:99827
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Weight loss, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
Gaucher Disease
Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia ORPHA:355
Cysticercosis
Increased circulating antibody level ORPHA:1560
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Normocytic anemia, Increased circulating IgG level, Weight ... ORPHA:91500
Trichinellosis
Increased circulating IgE level ORPHA:863
Viss Syndrome
Failure to thrive, Decreased circulating IgA level, Increased circulating IgG level, Patent ductu... OMIM:619472
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polysplenia, Splenomegaly ORPHA:373

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 Otud7b

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 Otud7b.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Otud7btm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Otud7btm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)