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Gene: Xrcc6 MGI:95606

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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:
X-ray repair complementing defective repair in Chinese hamster cells 6
Synonyms:
Ku70,  Ku p70,  G22p1

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 Xrcc6 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 Xrcc6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 24
Lymphopenia, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased circulating IgG2 le... OMIM:615897
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... OMIM:300400
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Failure to thrive in infancy, Growth delay, T lymphocytopenia, D... OMIM:619510
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... OMIM:236000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... OMIM:153600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli... ORPHA:98813
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B lymphocyto... OMIM:614069
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Short stature, Postnatal growth retardation, Splenomegaly, Leuko... OMIM:620210
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,... ORPHA:169079
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Decreased circulating antibody level, Lymphadenop... OMIM:618261
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 15B
Failure to thrive, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreas... OMIM:615592
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati... ORPHA:2643
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopeni... OMIM:619164
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Growth delay, Increased c... OMIM:243700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... OMIM:601457
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobulinemia OMIM:269840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l... OMIM:618108
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total IgM, Defec... OMIM:619774
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Short stature, B-cell lymphoma, Splenomegaly, Chronic lymphatic ... OMIM:616005
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... ORPHA:277
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Immunodeficiency 104
Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia, Lymphadenop... OMIM:608971
Immunodeficiency 22
Failure to thrive, Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, D... OMIM:615758
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Lymp... OMIM:614700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Primary Intestinal Lymphangiectasia
Lymphopenia, Disseminated cutaneous warts, Decreased circulating antibody level, Growth delay, De... ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... ORPHA:276
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... OMIM:618048
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... ORPHA:3261
Activated Pi3K-Delta Syndrome
Splenomegaly, Lymphoma, Lymphadenopathy, Decreased circulating antibody level, Increased circulat... ORPHA:397596
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circulating antibody... ORPHA:100024
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:601859
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcin... ORPHA:217390
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Verrucae, Neutropenia OMIM:193670
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D... OMIM:300310
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... ORPHA:33355
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ly... ORPHA:436159
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri... OMIM:616740
Bone Marrow Failure Syndrome 4
Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow ... OMIM:618116
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticulocytopenia, Decr... OMIM:275350
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Non-Hodgkin lymphoma, Autoimmune thrombocytopenia, ... ORPHA:331235
Agammaglobulinemia, X-Linked
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, Lymph node hypoplasia, B ... OMIM:300755
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... OMIM:615559
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morphology, Gray matter he... ORPHA:300573
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Thrombocytopenia, Patent duct... OMIM:617053
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:603909
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... OMIM:618986
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm... OMIM:613011
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Bloom Syndrome
Neoplasm, Neoplasm of the breast, Decreased circulating IgG level, Decreased proportion of CD4-po... ORPHA:125
Dyskeratosis Congenita, Digenic
Failure to thrive, Short stature, Decreased circulating total IgM, Basal cell carcinoma, Melanoma... OMIM:620040
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Follic... OMIM:614470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ... OMIM:619767
Ataxia-Telangiectasia
Failure to thrive, Short stature, Polycystic ovaries, Decreased circulating antibody level, Neopl... ORPHA:100
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... OMIM:209950
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Leukodystrophy, Hypomyelinating, 24
Severe short stature, B lymphocytopenia OMIM:619851
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Growth delay, Anemia ORPHA:100025
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology, Pachygyria, Abnormal thalamus morphology, ... ORPHA:467166
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Polymicrogyria, Agenesis o... ORPHA:250972
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination... OMIM:308230
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Small for gestational age, Decreased circulating IgA level, Abnormal T cell morpho... OMIM:215250
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphocytopenia, Hemo... OMIM:301078
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Short stature, T lymphocytopenia, Increased circulating IgM level, Reduced nat... OMIM:242860
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Cryptorchidism, Pate... OMIM:620005
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... OMIM:615190
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Hodgkin lymp... OMIM:615122
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... OMIM:300972
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Short stature OMIM:615139
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis OMIM:300635
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism,... OMIM:210900
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplas... OMIM:612541
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... OMIM:615966
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Failure to thrive,... ORPHA:275
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Simplified gyral pattern ORPHA:411493
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Midline brainstem cleft, Agenesis of corpus callosum, Hypop... OMIM:617542
Immunodeficiency 12
Short stature, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte co... OMIM:615468
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Lym... OMIM:619381
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 2
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neopla... OMIM:240500
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Roifman Syndrome
Short stature, Eosinophilia, Postnatal growth retardation, Lymphadenopathy, Decreased circulating... ORPHA:353298
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... OMIM:617099
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Icf Syndrome
Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia ORPHA:2268
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Absence of lymph node germ... ORPHA:79124
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, B-cell lymphoma, Lymphoma, Decreased circulating antibody level... ORPHA:90363
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus OMIM:214110
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Short stature, Growth delay, Failure to thrive, Panhypogammaglobulinemia ORPHA:251009
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Abnormal... OMIM:208900
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Macrocephaly/Autism Syndrome
Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody level, Hydrocele... OMIM:605309
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Thymoma
Aplastic anemia, Abnormal lymphocyte proliferation, Pure red cell aplasia, Abnormal lymphocyte ph... ORPHA:99867
Mogs-Cdg
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Hydroc... ORPHA:79330
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Griscelli Syndrome
Short stature, Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Ly... ORPHA:381
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... ORPHA:83313
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... ORPHA:443811
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Congenital Muscular Dystrophy With Cerebellar Involvement
Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Decreased... ORPHA:370959
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Rhizomelia, Small for gestational age, Cryptorchidism, Patent ductus arteriosu... OMIM:607143
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Increased circulating IgE level, Hodg... OMIM:615816
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Abnormality... ORPHA:84064
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... OMIM:242900
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Growth delay, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ... OMIM:615952
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymph... OMIM:619750
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str... ORPHA:1572
Immunodeficiency 40
Eosinophilic granuloma, Growth delay, T lymphocytopenia, Reduced antigen-specific T cell prolifer... OMIM:616433
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Cowden Syndrome 1
Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Decreased circulating antibody... OMIM:158350
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Postnatal growt... ORPHA:83617
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Short stature, Weight loss, Agammaglobulinemia, Anemia, Ne... ORPHA:47
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Anterior hypopituitarism, Perisylvian polymicrogyria, Abnormal midbrain m... ORPHA:280195
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Failure t... ORPHA:90045
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:255182
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased response to growth ho... OMIM:615577
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
Immunodeficiency 59 And Hypoglycemia
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... OMIM:233600
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... OMIM:240300
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Decreased response to growth hormone stimulation test, Absent circulating B cells,... OMIM:307200
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Rectal abscess, Type I diabetes... ORPHA:436252
Autosomal Agammaglobulinemia
Agammaglobulinemia, Failure to thrive, Verrucae, Neutropenia ORPHA:33110
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Neutropenia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia OMIM:209920
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Decreased circulating antibody level, Growth delay, Intrauterine growth retardatio... OMIM:617744
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo... ORPHA:169105
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Lymphoma, Decreased circulating total IgM, Decreased circulating IgG level, Decrea... ORPHA:183675
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm sh... ORPHA:508542
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Short stature, Medul... OMIM:251260
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Decreased response to growth hormone stimulation tes... ORPHA:293978
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Patent ductus arte... ORPHA:79329
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Cryptorchidism, Intrauterine growth retardation, Decreased circulating antibo... OMIM:616910
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE ... OMIM:256500
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Ciliary Dyskinesia, Primary, 1
Asplenia, Male infertility OMIM:244400
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Polymicrogyria, Abnormal brainstem morphology, Agyria ORPHA:370997
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia OMIM:613177
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Papilloma, C... ORPHA:51636
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology ORPHA:88619
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, B-cell lymphoma, Monoclonal immunoglobulin M proteinemia... ORPHA:91139
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Treacher-Collins Syndrome
Cryptorchidism, Patent ductus arteriosus, Abnormality of the adrenal glands, Hypoplasia of the th... ORPHA:861
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia, Intrauterine growth retardation ORPHA:448237
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Short stature, Autoimmune thr... ORPHA:391487
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Decreased specifi... OMIM:614576
Lambert Syndrome
Intrauterine growth retardation, Failure to thrive in infancy, Decreased circulating antibody level ORPHA:1296
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Short stature, Small for gestational age, Microcytic anemia, T lymphocy... ORPHA:2959
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Cryptorchidism, Thrombocytopenia, Decreased circulating Ig... OMIM:616638
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Patent ductus arteriosus, Anemia, Leukopenia, Increased circulating IgM level, Bone... OMIM:617303
Mannosidosis, Alpha B, Lysosomal
Growth delay, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Enlarged tectum, Pachygyria OMIM:618325
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology ORPHA:370022
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level, Growth delay, Iron deficiency anemia, Thrombocytosis, Anemia OMIM:226300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Patent ductus arteriosus, Obesity, Decreased circulating total IgM, Decreased... ORPHA:369837
Vici Syndrome
Decreased circulating IgG level, Failure to thrive, Postnatal growth retardation, Decreased circu... OMIM:242840
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocytopenia, Splenome... OMIM:188400
Riddle Syndrome
Generalized lymphadenopathy, Short stature, Weight loss, Decreased circulating total IgM, Decreas... ORPHA:420741
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus, Decreased circulating total IgM, Annular pancreas, Rhizomelia OMIM:618162
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Short stature, Postnatal growth retardation, Lymphoma, Weight loss, Iron defic... OMIM:212750
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Lymphoproliferative disorder, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decre... OMIM:615688
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Cryptorchidism, Splenomegaly, Pa... ORPHA:567
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Patent ductus arteriosus ORPHA:210122
Say-Barber-Miller Syndrome
Short stature, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Decreased circulating ... ORPHA:3132
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytos... OMIM:618278
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:98755
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity ORPHA:320365
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus OMIM:617746
Immunodeficiency 58
Recurrent cutaneous abscess formation, Short stature, Decreased circulating antibody level, Decre... OMIM:618131
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology ORPHA:163961
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Short stature, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Decreased... OMIM:613385
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology ORPHA:79279
Primary Sjögren Syndrome
Normocytic anemia, Parotitis, Lymphoproliferative disorder, Lymphoma, Decreased circulating antib... ORPHA:289390
Mosaic Trisomy 9
Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnormal liver lobulation ORPHA:99776
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Decreased circulating antibody level ORPHA:99811
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
Brucellosis
Liver abscess, Lung abscess, Small for gestational age, Hypersplenism, Thrombocytopenia, Leukocyt... ORPHA:1304
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymp... OMIM:607944
Hennekam Syndrome
Benign neoplasm of the central nervous system, Mild postnatal growth retardation, Splenomegaly, L... ORPHA:2136
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Ring Chromosome 21 Syndrome
Short stature, Decreased circulating antibody level ORPHA:1445
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level... ORPHA:505248
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Patent ductus arteriosus OMIM:619657
Xq28 (MECP2) duplication
Failure to thrive, Decreased circulating IgA level DECIPHER:45
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Truncus Arteriosus
Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... ORPHA:90041
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor... ORPHA:297
Dubowitz Syndrome
Aplastic anemia, Short stature, Postnatal growth retardation, Cryptorchidism, Lymphoma, Acute lym... OMIM:223370
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:444013
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Short stature, Small for gestational age, Microcytic anemia, Leukocytosis, Anemia, ... ORPHA:99843
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level, Growth delay, Squamous cell carcinoma of the skin, Failure ... ORPHA:79396
Trichothiodystrophy
Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Squamous cell carcinoma, Neu... ORPHA:33364
Feingold Syndrome 1
Accessory spleen, Asplenia, Patent ductus arteriosus, Polysplenia, Annular pancreas OMIM:164280
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Anemia, Leukopenia, De... ORPHA:470
Trichohepatoenteric Syndrome 1
Short stature, Small for gestational age, Increased mean platelet volume, Splenomegaly, Decreased... OMIM:222470
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level OMIM:264090
Alopecia Antibody Deficiency
Short stature, Decreased circulating antibody level ORPHA:1006
47,Xyy Syndrome
Increased circulating gonadotropin level, Abnormal brainstem morphology ORPHA:8
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal glands, Lymp... ORPHA:79078
Thrombocytopenia-Absent Radius Syndrome
Short stature, Eosinophilia, Facial capillary hemangioma, Pancreatic cysts, Leukocytosis, Patent ... OMIM:274000
Cartilage-Hair Hypoplasia
Rhizomelia, Decreased circulating antibody level, Disproportionate short-limb short stature, Neut... ORPHA:175
Slc35A2-Cdg
Lateral ventricle dilatation, Abnormal midbrain morphology, Atrophy/Degeneration affecting the br... ORPHA:356961
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly, Kinked brainstem OMIM:617822
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Pancreatic cysts, Congenital hep... ORPHA:564
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Polyclonal elevation of IgM, Hepatosplenomegaly, We... ORPHA:171
Rift Valley Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia ORPHA:319251
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosu... ORPHA:314621
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity ORPHA:51188
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:254930
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Abnormal ductus choledochus morphology, Granuloma, Increased cir... ORPHA:562639
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Rhizomelia, Disproportionate short-limb short stature, Neutropenia OMIM:271510
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hypoplasia, Asplenia, Cryptor... OMIM:249000
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Netherton Syndrome
Increased circulating IgE level, Short stature, Decreased circulating antibody level ORPHA:634
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Failure to thrive, Decreased circulating IgA level OMIM:613327
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hemangioma, Large for gestational age, Decreased circulating IgA level ORPHA:457485
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, I... ORPHA:228123
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Patent ductus arteriosus, Biliary atresia, Abdominal situs inversus, Poly... OMIM:306955
Joubert Syndrome 2
Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cer... OMIM:608091
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Short stature ORPHA:1493
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Decreased circulating antibody level, Hepatosplenomegaly, Intrauter... ORPHA:247598
Monosomy 18Q
Astrocytoma, Short stature, Bilateral cryptorchidism, Patent ductus arteriosus, Growth delay, Fai... ORPHA:1600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Hypoplasia of the brainstem, Kinked brainstem, Pachygyria, Agenesis of corpus callosum, P... OMIM:236670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Patent ductus arteriosus, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Posterior pituitary hypoplasia, Abnormal brainstem morphology, Abnormal... ORPHA:464311
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Parotitis, Orchitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Leu... ORPHA:99827
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Pancreatic hyperpl... ORPHA:99829
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Short stature, Squamous cell carcinoma, Basal cell carcinoma, Decrease... OMIM:601675
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma... ORPHA:68
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Immunodeficiency 56
Failure to thrive, Panhypogammaglobulinemia OMIM:615207
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology ORPHA:2720
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesion, Agenesis of corp... ORPHA:506
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Patent ductus arteriosus, Pulmonary lymphangiectasia OMIM:265380
Joubert Syndrome 1
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cer... OMIM:213300
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:83597
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci... OMIM:617062
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Pachygyria, Lissencephaly ORPHA:258
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Sponastrime Dysplasia
Small for gestational age, Rhizomelia, Decreased circulating antibody level, Disproportionate sho... ORPHA:93357
Lassa Fever
Increased circulating IgM level ORPHA:99824
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Arima Syndrome
Molar tooth sign on MRI, Gray matter heterotopia, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:243910
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... ORPHA:744
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology ORPHA:93256
Semilobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Decreased response to growth hormone stimulation... ORPHA:220386
Alobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Decreased response to growth hormone stimulation... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Decreased response to growth hormone stimulation... ORPHA:93926
Lobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Decreased response to growth hormone stimulation... ORPHA:93924
X-Linked Cerebral Adrenoleukodystrophy
Abnormal brainstem white matter morphology ORPHA:139396
Achondroplasia
Brain stem compression OMIM:100800
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Decreased circulating antibody level OMIM:618183
Viss Syndrome
Exostosis of the external auditory canal, Short stature, Patent ductus arteriosus, Increased circ... OMIM:619472
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Arnold-Chiari Malformation Type I
Brain stem compression ORPHA:268882
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Adrenocortic... ORPHA:293987
Mowat-Wilson Syndrome
Asplenia, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Chordee, Oligomenorrhea ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Cryptorchidism, Chordee, Hydrocele testis ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Chordee ORPHA:261552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Failure to thrive in infancy, Proportionate short stature, Patent ductus arte... ORPHA:500150
Listeriosis
Abnormal brainstem MRI signal intensity ORPHA:533
Full Nf2-Related Schwannomatosis
Brain stem compression ORPHA:637
Osteogenesis Imperfecta
Brain stem compression ORPHA:666

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 Xrcc6

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 Xrcc6.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
DNA-PK and the TRF2 iDDR inhibit MRN-initiated resection at leading-end telomeres. Nature structural & molecular biology (August 2023) Xrcc6tm1c(KOMP)Mbp Xrcc6tm1a(KOMP)Mbp PMC10497418

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
Xrcc6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Xrcc6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Xrcc6tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Xrcc6tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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