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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
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Caspase 8 Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased CD4:CD8 ratio, Decreased circulatin... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul... OMIM:300400
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 70
Verrucae, Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B... OMIM:618969
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... OMIM:617514
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag... OMIM:236000
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Lymphoma, Decre... OMIM:240500
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Failure to thrive, Hypopituitarism, Increased circulating IgE le... ORPHA:98813
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m... OMIM:613501
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomeg... OMIM:620210
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... OMIM:615401
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... OMIM:269840
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ... OMIM:615767
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... OMIM:615592
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI OMIM:614173
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating IgG level, Intrauterine growth retardation, Neutropen... ORPHA:2643
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 76
Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia... OMIM:619164
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Increased circulating... OMIM:617241
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas... OMIM:300853
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... OMIM:612782
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lympho... OMIM:308240
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Failure to thrive, Absence of lymph node germinal center, Lack o... ORPHA:277
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... OMIM:612783
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... OMIM:616100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Failure to thrive, Lymphoma, Pancytopenia, Decreased circulating... OMIM:614700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level,... OMIM:102700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Intrauterine growth retardation, Cryptorchidism, Agammaglobulinemia, ... OMIM:616910
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections, Lymphadenop... OMIM:608971
Immunodeficiency 22
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr... OMIM:615758
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Disseminated cutan... ORPHA:90362
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Verrucae, Postnatal growth retardation, Splenomegaly, Partial ab... OMIM:620632
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa... OMIM:618048
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Activated Pi3K-Delta Syndrome
Failure to thrive, Lymphoma, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy,... ORPHA:397596
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Increased circulating Ig... OMIM:243700
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop... OMIM:619220
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Lymphaden... ORPHA:100024
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Combined Immunodeficiency Due To Dock8 Deficiency
Verrucae, Increased circulating IgE level, Squamous cell carcinoma of the vulva, Squamous cell ca... ORPHA:217390
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio... ORPHA:169154
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Leukopenia, Thrombocytopenia, Anemia, Decreased circulat... OMIM:618116
Immunodeficiency 61
Decreased circulating total IgM, Obesity, Decreased circulating IgG2 level, Decreased circulating... OMIM:300310
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Reticular Dysgenesis
Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality of neutrophils, Decreased circula... ORPHA:33355
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp... OMIM:300755
Whim Syndrome 1
Decreased circulating IgG level, Verrucae, Neutropenia, Decreased circulating antibody level OMIM:193670
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Decreased circulating... ORPHA:436159
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thromb... OMIM:616740
Mirage Syndrome
Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Adrena... OMIM:617053
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:603909
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre... OMIM:613179
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Hypoplasia of the pons, Polymicrogyria, Abnormal brainstem morpholo... ORPHA:300573
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level... OMIM:275350
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-... ORPHA:125
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Decreased circulating IgG level, Failure to thrive, Squamous cell carcinoma... OMIM:620040
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Selective Igm Deficiency
Decreased proportion of transitional B cells, Verrucae, Cutaneous abscess, Lymphadenitis, Decreas... ORPHA:331235
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymp... OMIM:209950
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat... OMIM:600802
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Neoplasm, Polycystic ovaries, Delayed puberty, Abnormal testis mo... ORPHA:100
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:221139
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency 17
Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Chro... OMIM:615607
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu... ORPHA:169160
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... OMIM:613101
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Postnatal growth retardation, L... OMIM:620603
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... OMIM:301000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re... ORPHA:572
Alpha-Heavy Chain Disease
Lymphoma, Splenomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia, Growth delay ORPHA:100025
Leukodystrophy, Hypomyelinating, 24
Severe short stature, B lymphocytopenia OMIM:619851
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brainstem morphology, Dysgyria, Pa... ORPHA:467166
Schnitzler Syndrome
Lymphoma, Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level ORPHA:37748
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Decreased circulating IgA level, Small for gestational age, Abnormal T cell morpho... OMIM:215250
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen... OMIM:242700
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Failure to thrive, Absence of... OMIM:308230
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Intraut... OMIM:620005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, Short stat... OMIM:242860
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... OMIM:615190
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, ... OMIM:601495
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Lym... OMIM:615122
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
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Failure to thrive, Chronic ... OMIM:300972
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Interface hepatitis, Autoimmune hemolytic anemia, Leukocytosis, Hypoplasia of the th... OMIM:243150
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Decreased circulating antibody level OMIM:300635
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Bloom Syndrome
Decreased circulating IgG level, Lymphoma, Postnatal growth retardation, Intrauterine growth reta... OMIM:210900
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Short stature, Decreased circulating total IgM OMIM:615139
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Dispr... ORPHA:508533
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Simplified gyral pattern ORPHA:411493
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Intrauterine growth retardation, T lymphocytopenia, Abnormal natural killer cell morphology, B ly... OMIM:615966
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... OMIM:612541
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Failure to thrive, Parotitis, Hepatosplenomega... OMIM:620376
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Midline brainstem cleft, Hypoplasia of the pons, Agenesis o... OMIM:617542
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Verrucae, Failure to thrive, Decreased circulating IgA level, De... ORPHA:275
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:619381
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphoma, L... OMIM:208900
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Complete or near-complete absence of ... OMIM:615468
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Icf Syndrome
Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circulating antibody level, Short stature ORPHA:2268
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphoma, Lymphopenia, Decreased circulating IgA level, B-cell ... ORPHA:90363
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... ORPHA:79124
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Panhypogammaglobulinemia, Pancytopenia, Short stature, Growth delay ORPHA:251009
Roifman Syndrome
Postnatal growth retardation, Hepatosplenomegaly, Intrauterine growth retardation, Eosinophilia, ... ORPHA:353298
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Large for gestational age, Decreased circulating antibody level, Splenomega... OMIM:605309
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis OMIM:214110
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... ORPHA:99867
Mogs-Cdg
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Decreased c... ORPHA:79330
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Decreased circulating antibody level, Autoimmune hemolytic anemia, Hodgkin ly... OMIM:615952
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph... ORPHA:319487
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Griscelli Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Short s... ORPHA:381
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Multilobulated spleen, Hypoplastic spleen, Cryptorchidism OMIM:601186
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Abnorma... ORPHA:370959
Immunodeficiency 23
Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Hodgkin lymphoma, Eosin... OMIM:615816
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Rhizomelia, Failure to thrive, Decreased circulating IgA level, ... OMIM:607143
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... ORPHA:84064
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Intrauterine gro... OMIM:242900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation... OMIM:307200
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Decreased response to growth horm... ORPHA:699
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Decreased circula... OMIM:612301
Immunodeficiency 40
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, T lympho... OMIM:616433
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Fibroma, Short stature, Decreased circula... OMIM:619750
Bone Marrow Failure Syndrome 5
Growth delay, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Decreased circulating antibody... OMIM:618165
Common Variable Immunodeficiency
Lymphoma, Failure to thrive in infancy, Lymphopenia, Decreased circulating antibody level, Spleno... ORPHA:1572
Hereditary Folate Malabsorption
Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased ... ORPHA:90045
X-Linked Agammaglobulinemia
Failure to thrive, Neoplasm, Agammaglobulinemia, Weight loss, Thrombocytopenia, Neutropenia, Anem... ORPHA:47
Cowden Syndrome 1
Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Lymphopenia, Fibroadenoma of the breast... OMIM:158350
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Anterior hypopituitarism, Perisylvian polym... ORPHA:280195
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Pancreatic hypoplasia, Postnatal growth retardation, Intrauter... ORPHA:83617
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Agenesis of corpus callosum ORPHA:255182
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Abnormality of th... ORPHA:906
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... ORPHA:54251
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Male hypogonadism, Type I diabetes mellitus, Adrenal insuffi... OMIM:240300
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227982
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Decreased circulating IgG level, Decreased... OMIM:615577
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Immunodeficiency 59 And Hypoglycemia
Short stature, Complete or near-complete absence of specific antibody response to unconjugated pn... OMIM:233600
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth... OMIM:620133
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia... OMIM:269200
Autosomal Agammaglobulinemia
Agammaglobulinemia, Verrucae, Failure to thrive, Neutropenia ORPHA:33110
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t... ORPHA:436252
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Abnormal lymphocyte mor... ORPHA:293978
Mhc Class Ii Deficiency 1
Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia OMIM:209920
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Disproportionate short stature, Decreased circulating antibody level OMIM:617425
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Intrauterine growth retardation, Decreased circulating IgA level, Short statur... OMIM:617744
Good Syndrome
Thymoma, Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody ... ORPHA:169105
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf... ORPHA:540
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Reticulocytopeni... ORPHA:508542
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Lymphoma, Decrea... ORPHA:183675
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hypoparathyroi... OMIM:618223
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Nijmegen Breakage Syndrome
Glioma, Lymphoma, Rhabdomyosarcoma, Intrauterine growth retardation, Autoimmune hemolytic anemia,... OMIM:251260
Alg12-Cdg
Failure to thrive, Abnormal circulating IgM level, Intrauterine growth retardation, Complete or n... ORPHA:79324
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... ORPHA:83471
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu... ORPHA:79329
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t... OMIM:256500
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility ORPHA:244
Gangliocytoma
Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Adr... ORPHA:251937
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia OMIM:613177
Ciliary Dyskinesia, Primary, 1
Asplenia, Male infertility OMIM:244400
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal thalamus morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Agammaglobulinemia ORPHA:935
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Whim Syndrome
Verrucae, Lymphadenitis, Cutaneous melanoma, Abnormal neutrophil morphology, Lymphopenia, Parotit... ORPHA:51636
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal brainstem morphology, Abnormal pons morphology, Agyria, Polymicrogyria ORPHA:370997
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Smith-Kingsmore Syndrome
Rhizomelia, Decreased circulating IgA level, Large for gestational age, Cryptorchidism, Thrombocy... OMIM:616638
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Zika Virus Disease
Intrauterine growth retardation, Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Nijmegen Breakage Syndrome-Like Disorder
Short stature, Decreased circulating antibody level, Growth delay OMIM:613078
Treacher-Collins Syndrome
Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, ... ORPHA:861
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired T cell functio... OMIM:614576
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Neoplasm, Neoplasm of the pancreas, Delayed puberty, Short stature, T lymphocy... ORPHA:2959
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level, Growth delay OMIM:226300
Lambert Syndrome
Failure to thrive in infancy, Intrauterine growth retardation, Decreased circulating antibody level ORPHA:1296
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Inc... OMIM:617303
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries ORPHA:2969
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum, Pachygyria, Lissencephaly OMIM:618325
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Abnormal brainstem morphology, Elongated superior cerebellar peduncle ORPHA:370022
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Decreased circulating antibody level, Growth delay, Splenomegaly OMIM:248500
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Failure to thrive, Lymphopenia, Leukopenia, Po... OMIM:242840
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Obesity, Decreased circulating total IgM, Hypoparathyroidism, Pa... ORPHA:369837
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Hepatic steatosis, Ovarian cyst, Hypoplasia... OMIM:188400
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Eec Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... ORPHA:1896
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Rhizomelia, Annular pancreas, Patent ductus arteriosus OMIM:618162
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... OMIM:615688
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Weight loss, Generalized lympha... ORPHA:420741
Celiac Disease, Susceptibility To, 1
Failure to thrive, Lymphoma, Postnatal growth retardation, Decreased circulating IgA level, Macro... OMIM:212750
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Impa... ORPHA:3132
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Patent ductus arteriosus, Annular pancreas ORPHA:210122
Joubert Syndrome 7
Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
22Q11.2 Deletion Syndrome
Cholelithiasis, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus, Hypothyroidism, Abnormali... ORPHA:567
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circ... ORPHA:391487
Immunodeficiency 58
Verrucae, Failure to thrive, Cutaneous abscess, Decreased specific antibody response to vaccinati... OMIM:618131
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Bilateral cryptorchidism OMIM:617746
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splen... OMIM:613385
Multiple Myeloma
Splenomegaly, Weight loss, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased ci... ORPHA:29073
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Primary Sjögren Syndrome
Normocytic anemia, Lymphoma, Parotitis, Lymphopenia, Leukopenia, Reduced circulating complement c... ORPHA:289390
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:98755
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Patent ductus arteriosus ORPHA:99811
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology ORPHA:79279
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Short stature, Autoimmune thrombocy... OMIM:607944
Riddle Syndrome
Short stature, Decreased circulating IgG level OMIM:611943
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticuloc... OMIM:618278
Monosomy 22
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia ORPHA:96123
Mosaic Trisomy 9
Asplenia, Patent ductus arteriosus, Cryptorchidism, Abnormal liver lobulation ORPHA:99776
Brucellosis
Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, We... ORPHA:1304
Hennekam Syndrome
Lymphopenia, Benign neoplasm of the central nervous system, Mild postnatal growth retardation, Sp... ORPHA:2136
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology ORPHA:163961
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Thr... ORPHA:505248
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Patent ductus arteriosus OMIM:619657
Xq28 (MECP2) duplication
Decreased circulating IgA level, Failure to thrive DECIPHER:45
Ring Chromosome 21 Syndrome
Short stature, Decreased circulating antibody level ORPHA:1445
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Truncus Arteriosus
Hypoplasia of the thymus, Patent ductus arteriosus, Adrenocortical abnormality ORPHA:3384
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Lymphoma, Postnatal growth retardation, Intraut... OMIM:223370
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:444013
Tick-Borne Encephalitis
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... ORPHA:297
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Squamous cell carcinoma of the skin, Anemia, Decreased circulating antibody le... ORPHA:79396
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Microcytic anemia, Intrauterine growth retardation, Leukocytosis, Abnormal iso... ORPHA:99843
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Intrauterine growt... ORPHA:33364
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Asplenia, Patent ductus arteriosus OMIM:164280
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Failure to thrive, Decreased response to growt... ORPHA:470
Trichohepatoenteric Syndrome 1
Failure to thrive, Intrauterine growth retardation, Splenomegaly, Thrombocytosis, Short stature, ... OMIM:222470
Cartilage-Hair Hypoplasia
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Neutropenia, Anemia, De... ORPHA:175
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level OMIM:264090
47,Xyy Syndrome
Increased circulating gonadotropin level, Abnormal brainstem morphology ORPHA:8
Alopecia Antibody Deficiency
Short stature, Decreased circulating antibody level ORPHA:1006
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity ORPHA:51188
Slc35A2-Cdg
Abnormal midbrain morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the br... ORPHA:356961
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Increased circulating IgG4 level, Abnormality of the submandibular glan... ORPHA:79078
Rift Valley Fever
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:319251
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Facial capillary hemangioma, Leukocytosis, Decreased circulating antibody lev... OMIM:274000
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Kinked brainstem, Lissencephaly, Hypoplasia of the brainstem OMIM:617822
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormal midbrain morphology, Abno... ORPHA:314621
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Failure to thrive, Thrombocytosis OMIM:212065
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Neutrophilia ORPHA:79139
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:254930
Meckel Syndrome
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan... ORPHA:564
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level, Cryptorchidism, Hemangioma, Intestina... ORPHA:457485
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Rhizomelia, Disproportionate short-limb short stature, Neutropenia OMIM:271510
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Granuloma, Abnormal ductus chol... ORPHA:562639
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Splenomegaly, Failure to thrive OMIM:613327
Netherton Syndrome
Short stature, Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Lymphadenopathy, Increased circulati... ORPHA:228123
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Patent ductus arteriosus, Abdominal situs inversus OMIM:270100
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia, Patent ductus art... OMIM:306955
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Splenomegaly, Cryptorchidism, Patent ... OMIM:249000
Joubert Syndrome 2
Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cerebellar peduncle, Thicken... OMIM:608091
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Gaucher Disease
Splenic infarction, Cholelithiasis, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating... ORPHA:355
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Vici Syndrome
Short stature, Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Monosomy 18Q
Secondary growth hormone deficiency, Failure to thrive, Bilateral cryptorchidism, Slender build, ... ORPHA:1600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Hepatosplenomegaly, Intrauterine growth retardation, Anemia, Decrea... ORPHA:247598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, ... OMIM:236670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypoplastic nipples, Hypothyroid... OMIM:620186
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Abnormal brainstem morphology, Patent ductus arteriosus, Poste... ORPHA:464311
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Crimean-Congo Hemorrhagic Fever
Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, Lymphadenopathy, Throm... ORPHA:99827
Yellow Fever
Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inter... ORPHA:99829
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Decreased circulating IgG level, Squamous cell carcinoma, Short stature, Sm... OMIM:601675
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology ORPHA:2720
Immunodeficiency 56
Failure to thrive, Panhypogammaglobulinemia OMIM:615207
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Joubert Syndrome 1
Brainstem dysplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Hypoplasia ... OMIM:213300
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Leigh Syndrome
Focal T2 hyperintense brainstem lesion, Agenesis of corpus callosum, Abnormal brainstem MRI signa... ORPHA:506
Primary Sclerosing Cholangitis
Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Weight loss, Polyclonal elevation of IgM, Chola... ORPHA:171
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level, Splenomegaly, Hepatocellular ca... ORPHA:186
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Patent ductus arteriosus, Pulmonary lymphangiectasia OMIM:265380
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:83597
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Abnormal brainstem morphology OMIM:301310
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal hypothalamus morpho... ORPHA:68
Meningioma
Secondary growth hormone deficiency, Brain stem compression, Increased circulating prolactin conc... ORPHA:2495
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pachygyria, Pontocerebellar atrophy, Lissencephaly, Abnormal brainstem MRI signal intensity ORPHA:258
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Sponastrime Dysplasia
Rhizomelia, Disproportionate short-limb short stature, Intrauterine growth retardation, Neutropen... ORPHA:93357
Lassa Fever
Increased circulating IgM level ORPHA:99824
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Arima Syndrome
Gray matter heterotopia, Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:243910
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem ORPHA:444072
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology ORPHA:93256
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Abnormal brainstem mor... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Abnormal brainstem mor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Abnormal brainstem mor... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Abnormal brainstem mor... ORPHA:93924
Proteus Syndrome
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... ORPHA:744
X-Linked Cerebral Adrenoleukodystrophy
Abnormal brainstem white matter morphology ORPHA:139396
Achondroplasia
Brain stem compression OMIM:100800
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level, Cryptorchidism OMIM:618183
Viss Syndrome
Failure to thrive, Increased circulating IgE level, Exostosis of the external auditory canal, Dec... 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, Increased circulating prolactin concentration, Decreased response t... ORPHA:293987
Mowat-Wilson Syndrome
Cryptorchidism, Chordee, Oligomenorrhea, Asplenia, Hydrocele testis, Patent ductus arteriosus ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Chordee, Hydrocele testis, Cryptorchidism ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Chordee, Asplenia, Hydrocele testis, Patent ductus arteriosus ORPHA:261552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Failure to thrive in infancy, Intrauterine growth retardation, S... 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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