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Gene: Trp53bp1 MGI:1351320

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transformation related protein 53 binding protein 1
Synonyms:
p53BP1,  53BP1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Trp53bp1 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 Trp53bp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 54
Chromosome breakage, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly... OMIM:609981
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia, Abnormality of chrom... OMIM:600546
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Short stature, T-cell acute lymphoblastic leukemias, Bone marrow hypocell... OMIM:605724
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Chrom... OMIM:609054
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Chromosomal breakage induc... OMIM:616435
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
N Syndrome
Cryptorchidism, Leukemia, Abnormality of chromosome stability OMIM:310465
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Fanconi Anemia, Complementation Group V
Short stature, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Bone marrow... OMIM:617243
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Ataxia-Telangiectasia
Abnormality of chromosome stability, Failure to thrive, Short stature, Diabetes mellitus, Polycys... ORPHA:100
Nijmegen Breakage Syndrome-Like Disorder
Growth delay, Short stature, Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchang... OMIM:618097
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... OMIM:620282
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Fanconi Anemia, Complementation Group S
Chromosome breakage, Short stature, Ovarian neoplasm, Ovarian carcinoma, Failure to thrive, Anemia OMIM:617883
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Short stature, Chromosomal breakage induced by crosslinking agents, Decreased ... OMIM:619060
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 104
Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia, Lymphadenop... OMIM:608971
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... ORPHA:277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Fanconi Anemia, Complementation Group Q
Growth delay, Chromosome breakage, Short stature, Bone marrow hypocellularity OMIM:615272
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... OMIM:616005
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism, Short stature OMIM:613390
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestatio... OMIM:227650
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Aplastic anemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorch... OMIM:600901
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... OMIM:619652
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Radial-Renal Syndrome
Chromosome breakage, Short stature OMIM:179280
Icf Syndrome
Abnormality of chromosome stability, Short stature, Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Fanconi Anemia, Complementation Group R
Growth delay, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, A... OMIM:617244
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... OMIM:210900
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Bone marrow hypocellularity... OMIM:609053
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Failure to thrive, Aplastic anemia, Sh... OMIM:617052
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Lig4 Syndrome
Pancytopenia, Abnormality of chromosome stability, Cryptorchidism, Leukocytosis, Lymphadenopathy,... ORPHA:99812
Myeloma, Multiple
Paraproteinemia OMIM:254500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... OMIM:619802
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorch... OMIM:227645
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... OMIM:618986
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Cryptorchidism, Chromosomal breakage induced by crosslinking agents,... OMIM:613951
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Chromosomal... OMIM:603467
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... OMIM:618048
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... ORPHA:85327
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG... OMIM:620210
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... ORPHA:276
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio OMIM:618495
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Short stature, Female hypogonadism, Lymphoma, Hodgkin lymph... OMIM:208900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Hypergonadotropic hypogonadism, Growth dela... OMIM:300514
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly... OMIM:602450
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... OMIM:615559
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Activated Pi3K-Delta Syndrome
Splenomegaly, Increased circulating IgM level, B lymphocytopenia, Decreased circulating antibody ... ORPHA:397596
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorch... OMIM:227646
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... OMIM:301078
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Immunodeficiency 9
Failure to thrive, Hypoplasia of the thymus OMIM:612782
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hyp... OMIM:612541
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Growth delay, Bone marr... OMIM:614083
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Fanconi Anemia, Complementation Group U
Growth delay, Chromosome breakage OMIM:617247
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Revesz Syndrome
Intrauterine growth retardation, Abnormality of chromosome stability, Aplastic anemia, Bone marro... OMIM:268130
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Failure to thrive, Hypoplasia of the thymus, Intrauterine growth retardation OMIM:214110
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... OMIM:615966
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Syndromic Diarrhea
Short stature, Small for gestational age, Increased mean platelet volume, Splenomegaly, Patent du... ORPHA:84064
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE... OMIM:300755
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature, B lymphocytopenia OMIM:619851
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... ORPHA:911
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Glioma, B-cel... ORPHA:647
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... ORPHA:443811
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia ORPHA:83313
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Riddle Syndrome
Weight loss, Generalized lymphadenopathy, Short stature, Chromosomal breakage induced by ionizing... ORPHA:420741
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Absence of lymph node germ... ORPHA:79124
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Hypoplasia of the thymus OMIM:617022
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Rhizomelia, Disproportionate short-limb short stature, Neutr... ORPHA:175
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Short stature, C... ORPHA:84
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hypoplasia of the thymus, Rectal abscess, Type I diabetes mellitus, ... ORPHA:436252
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Premature ovarian insufficiency, Short stature, Hypergonadotropic hypog... ORPHA:2959
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... ORPHA:83471
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature ORPHA:3004
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... OMIM:615816
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level, Leukopenia, Thrombocytosis, Lym... OMIM:615934
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Immunodeficiency 40
Growth delay, T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Treacher-Collins Syndrome
Cryptorchidism, Patent ductus arteriosus, Multiple enchondromatosis, Abnormality of the adrenal g... ORPHA:861
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Defective DNA repair after ultraviolet radia... ORPHA:33364
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... OMIM:617827
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Short stature, Abnormality of the tonsils, Cryptorchidism, S... ORPHA:567
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Growth delay, Hypoplasia of the thymus, Adrenal hypoplasia OMIM:613177
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... OMIM:300972
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ... OMIM:620005
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality of the endoc... ORPHA:391487
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Digeorge Syndrome
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Thrombocyto... OMIM:188400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ... ORPHA:293978
Vici Syndrome
Failure to thrive, Postnatal growth retardation, Leukopenia, T lymphocytopenia, Abnormal thymus m... OMIM:242840
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... OMIM:612301
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymp... OMIM:607944
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Hemato... ORPHA:217260
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Short stature, T lymphocytopenia, B... OMIM:251260
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... ORPHA:125
Wiedemann-Rautenstrauch Syndrome
Short stature, Small for gestational age, Cryptorchidism, Hypoplasia of the thymus, Increased ser... OMIM:264090
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman... ORPHA:2969
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Splenomegaly, Decreased c... OMIM:619381
Monosomy 22
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... ORPHA:96123
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level OMIM:613385
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Postnatal growt... ORPHA:83617
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... ORPHA:183675
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Decreased circulating IgA level OMIM:613327
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Increas... ORPHA:2298
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
Brucellosis
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Increas... ORPHA:1304
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Cachexia, Retinal hamartoma, Splenomegal... ORPHA:744
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG level, Increased circ... ORPHA:228123
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449395
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Increase... ORPHA:99827
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472

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 Trp53bp1

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 Trp53bp1.

No publications found that use IMPC mice or data for Trp53bp1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Trp53bp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Trp53bp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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