Gene Summary

Name:
polymerase (DNA directed), theta
Synonyms:
A430110D14Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Polqem1(IMPC)Mbp HOM Early adult 3.13×10-05
abnormal spleen morphology Polqem1(IMPC)Mbp HOM Early adult 0.00
small spleen Polqem1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Whole Body Dorso Ventral

54 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

Human diseases caused by Polq 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 Polq by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG level, Abnormally l... OMIM:618987
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased proport... OMIM:615897
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Cutaneous abscess, Decreased pr... OMIM:618944
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:615214
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Decreased ci... OMIM:300400
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Reduced natural k... OMIM:619281
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:607594
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Decreased specific pneumococcal antibody level, Increased circulating IgM leve... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:613501
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia OMIM:616873
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased proport... OMIM:618394
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of memory ... OMIM:619510
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... OMIM:618261
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Myeloma, Multiple
Paraproteinemia OMIM:254500
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, B lymphocytope... ORPHA:169079
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Decreased prop... ORPHA:70593
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Increased circulating antibody level, Neutropenia, Anemia, Thrombocytop... OMIM:615285
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Increased circulating anti... OMIM:202700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Decreased ci... OMIM:619752
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Autoimmune thrombocytopenia, Au... OMIM:619220
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune hemolytic anemia, Au... OMIM:616100
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Hepatosplenomegaly, Increased c... OMIM:618534
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Decreased proportion of class-switched memory B cells, Increased... OMIM:615767
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Whim Syndrome 1
Neutropenia, Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Eosinophilia, Increased circulating IgG level, Decreased proport... OMIM:243700
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hepatospleno... ORPHA:35078
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Eosinophilia, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Increased ci... OMIM:308240
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Anemia,... OMIM:613101
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:615577
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Anemia, Thrombocyt... OMIM:618116
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Thrombocytopenia, Decreased... OMIM:614493
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circula... OMIM:614470
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Immunodeficiency 92
Decreased circulating IgG level, Leukocytosis, Thrombocytosis, Decreased circulating IgA level, A... OMIM:619652
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased CD4:CD8 r... OMIM:300853
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Decreased circulating antibody level OMIM:605309
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of CD3-pos... ORPHA:90362
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Decreased circulating total IgM, Increased circulating IgA level,... OMIM:600903
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly, Decreased circulating antibody level OMIM:616005
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... ORPHA:2442
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or near-complete a... OMIM:613496
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Impaired Ig class switch recombination OMIM:608184
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Reticular Dysgenesis
Abnormality of neutrophils, Anemia, Leukopenia, Decreased circulating antibody level ORPHA:33355
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Decreased circulating total IgM, Chronic neutropen... OMIM:614700
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... OMIM:600802
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
N Syndrome
Abnormality of chromosome stability OMIM:310465
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Eosinophilia, Decreased proportion of CD3-positive T cells, Hepa... ORPHA:169160
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Decreased ci... OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:169154
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Increased circulating IgE level OMIM:212050
Immunodeficiency 27A
Increased circulating IgG level, Hepatosplenomegaly, Histiocytosis, Increased circulating IgM lev... OMIM:209950
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Leukopenia, Bone marrow hypocellularity OMIM:615190
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:603909
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Aplastic anemia OMIM:300635
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia OMIM:618048
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Inc... OMIM:619632
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency 54
Chromosome breakage OMIM:609981
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduce... OMIM:615559
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Schnitzler Syndrome
Anemia, Splenomegaly, Leukocytosis, Increased circulating IgM level ORPHA:37748
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Decreased circulating IgG level OMIM:600351
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Partial absence of specific ant... OMIM:618986
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:210900
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Agammaglobulinemia, Decreased circulating antibody level, Neutropenia, Panhypogam... OMIM:601495
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Eosinophilia, Increased circulat... OMIM:301000
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... ORPHA:221139
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:612301
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Increased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:276
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody ... OMIM:615122
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Lichtenstein Syndrome
Neutropenia, Decreased circulating IgA level OMIM:246550
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus OMIM:602450
Immunodeficiency 47
Decreased circulating total IgM, Chronic decreased circulating total IgG, Leukopenia, Normocytic ... OMIM:300972
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage OMIM:614083
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Lack of T cell function, Abnormal CD4:CD8 ratio, Autoimmune hemo... ORPHA:572
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, Decreased c... ORPHA:79330
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:331235
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Caffey Disease
Increased circulating antibody level ORPHA:1310
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Thrombocytopenia, Splenomegaly OMIM:615846
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Chromosome breakage OMIM:208910
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... OMIM:242860
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level ORPHA:83313
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level ORPHA:2268
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hypereosinop... ORPHA:508533
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve... ORPHA:90363
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level ORPHA:100
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Decreased specific pneumococcal... ORPHA:183675
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulati... OMIM:615952
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia, Agammaglobulinemia OMIM:209920
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Acute myeloid leukemia, Decreas... ORPHA:125
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Thymic Tumor
Dysgammaglobulinemia ORPHA:100100
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Comple... ORPHA:449400
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... ORPHA:507
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level ORPHA:353298
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Decreased circulating antibody level, Abno... ORPHA:381
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Leukemia, Defective B cell differentiation, D... OMIM:208900
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM ORPHA:420741
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgA level, Autoimmune h... OMIM:617388
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Decreased circulating antibody level ORPHA:169105
Angiostrongyliasis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Increased ci... ORPHA:74
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Agammaglobulinemia, Thrombocytosis, Autoimmune hemolytic anemia, Decreased circulat... OMIM:243150
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level OMIM:300953
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level OMIM:606056
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Thymoma
Abnormal lymphocyte proliferation, Leukemia, Abnormal lymphocyte physiology, Imbalanced hemoglobi... ORPHA:99867
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Sézary Syndrome
Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Abnormal circulating interleukin concentration, Decreased propor... ORPHA:79124
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Decreased circulating antibody level OMIM:226300
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia, Decreased circulating IgG level OMIM:608809
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Abscess, Neutrope... OMIM:615816
Immunodeficiency 59 And Hypoglycemia
Decreased proportion of class-switched memory B cells, Complete or near-complete absence of speci... OMIM:233600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Agammaglobulinemia ORPHA:935
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Autosomal Agammaglobulinemia
Neutropenia, Agammaglobulinemia ORPHA:33110
X-Linked Agammaglobulinemia
Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation ORPHA:47
Purine Nucleoside Phosphorylase Deficiency
Abnormality of B cell physiology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... OMIM:613179
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, T lymphocytopenia, Decreased circulating total IgG, Decreased pr... OMIM:619381
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia, Decreased circulating antibody level OMIM:617425
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Eosinophilia, T lymphocytopenia, Increased circula... ORPHA:443811
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Increased ... ORPHA:91139
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Popov-Chang syndrome
Lymphopenia, Decreased circulating antibody level OMIM:618428
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Increased circulating IgG level, Thrombocytosis, Increased circulating IgA level, Ane... OMIM:615934
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Splenomegaly, Decreased circula... ORPHA:29073
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Hypochromic anemia, Increased circulating IgG level, Leukocytosis, T... OMIM:618213
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level, Hemolytic anemia... ORPHA:1572
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cel... OMIM:242900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, B lymphocytopenia, Severe B lymphocytopenia ORPHA:83617
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level... ORPHA:293978
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating antibody level OMIM:607143
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents OMIM:600901
Lassa Fever
Increased circulating IgM level ORPHA:99824
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents OMIM:227650
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Immunodeficiency 58
Decreased T cell activation, Cutaneous abscess, Decreased circulating antibody level, Decreased s... OMIM:618131
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG level, Increased circulating IgG4 level, Increased circul... ORPHA:449432
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Impaired T cell function, Decreased specific anti-polysaccharide anti... OMIM:614576
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Bone marrow hypocellularity, Increased circulating IgM level, Splenomegaly, Neutropen... OMIM:617303
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents OMIM:227645
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Decreased proportion of CD4-positiv... OMIM:242840
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Decreased circulating ... ORPHA:227990
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splenomegaly OMIM:613385
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody le... ORPHA:79329
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia, Lymphopenia OMIM:617591
Alg12-Cdg
Abnormal circulating IgA level, Partial absence of specific antibody response to Haemophilus infl... ORPHA:79324
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Decreased circulating antibody level, Vacuolated lymphocytes OMIM:248500
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly ORPHA:2137
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents OMIM:227646
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Nijmegen Breakage Syndrome
T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, B lymphocytopenia, Thromboc... OMIM:251260
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Splenomegaly OMIM:613327
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Whim Syndrome
Neutropenia, Abnormality of neutrophil morphology, Lymphopenia, Decreased circulating antibody level ORPHA:51636
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Decreased circulating ... ORPHA:227982
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Decreased circulating IgA level, Macrocytic anemia OMIM:212750
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolyti... OMIM:618278
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Hepatosplenomegaly, Leukocytosis, Thromboc... OMIM:615688
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Transient hypogammaglobulinemia ... ORPHA:3132
Rift Valley Fever
Anemia, Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level ORPHA:319251
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, Leukocytosis, I... ORPHA:297
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Leukopenia, Bone marrow hypocellularity, Hepatosplenomegaly, Inc... ORPHA:505248
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Aplastic anemia, Acute lymphobl... OMIM:223370
Primary Sjögren Syndrome
Decreased serum complement C4, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positiv... ORPHA:289390
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Decreased circulating antibody level, Anemia, Thr... OMIM:274000
Japanese Encephalitis
Increased circulating antibody level, Neutrophilia, Increased circulating IgM level ORPHA:79139
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Brucellosis
Increased circulating IgG level, Leukopenia, Leukocytosis, Increased circulating IgM level, Throm... ORPHA:1304
Pearson Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hypoplastic spleen, Abnormality of the liver, He... ORPHA:699
Syndromic Diarrhea
Thrombocytosis, Splenomegaly, Panhypogammaglobulinemia, Hypoplasia of the thymus, Lymphopenia, In... ORPHA:84064
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... ORPHA:79078
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia, Decreased circulating IgG level OMIM:271510
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Insulin-Resistance Syndrome Type B
Leukopenia, Increased circulating IgG level, Increased circulating IgA level, Decreased serum com... ORPHA:2298
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Decreased circulating antibody level ORPHA:175
Coccidioidomycosis
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Granuloma, Abnorm... ORPHA:228123
Trichothiodystrophy
Neutropenia, Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration ORPHA:33364
Lysinuric Protein Intolerance
Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Decreased circulating antibody level, Thrombocy... ORPHA:470
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Neutrophilia, Anemia, Abnormal isohemagglutinin level ORPHA:99843
Hennekam Syndrome
Lymphopenia, Decreased circulating antibody level, Splenomegaly ORPHA:2136
Igg4-Related Kidney Disease
Decreased serum complement C4, Eosinophilia, Increased circulating IgG1 level, Increased circulat... ORPHA:449395
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hepatosplenomegaly, Decreased circulating antibody level ORPHA:247598
Yellow Fever
Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,... ORPHA:99829
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Increased circulating IgG level, Leukocytosis, Increased circulating Ig... ORPHA:99827
Fanconi Anemia
Abnormality of chromosome stability ORPHA:84
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Increased circulating IgG level, Increased circulating IgA level, Splenomegaly... OMIM:256040
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Normocytic anemia, Increased circulating antibody level, Normoch... ORPHA:91500
Sponastrime Dysplasia
Neutropenia, Decreased circulating antibody level ORPHA:93357
Viss Syndrome
Hypereosinophilia, Decreased circulating IgA level, Increased circulating IgE level, Increased ci... OMIM:619472
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level, Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level, Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level, Asplenia ORPHA:261552

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 Polq

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 Polq.

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

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MGI Allele Allele Type Produced
Polqtm459245(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Polqem1(IMPC)Mbp Exon Deletion Mice, Tissue

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