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Gene: Ruvbl2 MGI:1342299

Registered for phenotyping at IMPC

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

Gene Summary

Name:

RuvB-like AAA ATPase 2

Synonyms:

mp47, p47

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 Ruvbl2 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.

Human diseases associated with Ruvbl2 (0 diseases)
Human diseases predicted to be associated with Ruvbl2 (378 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ruvbl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 24	Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level...	OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia	ORPHA:169095
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level, B lym...	OMIM:618987
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Immunodeficiency 105	Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt...	OMIM:619924
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin, Decreased circulating total IgM, Neutropenia	OMIM:610798
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency 62	Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin...	OMIM:618459
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R...	OMIM:614493
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c...	OMIM:619707
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ...	ORPHA:859
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Aga...	OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat...	OMIM:613502
Caspase 8 Deficiency	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:607271
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 48	Panhypogammaglobulinemia, Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia	OMIM:200900
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit...	OMIM:300400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:611926
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased...	OMIM:618944
Immunodeficiency 11	Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu...	OMIM:615206
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG...	OMIM:618969
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:612692
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ...	OMIM:619824
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase...	OMIM:615513
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Vitiligo, Autoimmune thrombocytopenia, Lym...	OMIM:619846
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Ridged nail, Alopecia, Nail dystrophy, Decreased helper T cell proportion, T lymphocyt...	OMIM:601705
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM...	OMIM:153600
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ...	OMIM:301082
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Complete or near-complete absence of specific antibody response to unconjugated pneu...	OMIM:615401
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c...	OMIM:606843
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k...	OMIM:619281
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc...	OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea...	ORPHA:169154
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig...	OMIM:619510
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re...	ORPHA:70593
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:613494
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Agammaglobulinemia 7, Autosomal Recessive	Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia, Neutropenia	OMIM:615214
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat...	OMIM:618261
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Immunodeficiency 95	Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level	OMIM:619773
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 15B	Reduced natural killer cell count, Agammaglobulinemia, Decreased lymphocyte proliferation in resp...	OMIM:615592
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Cernunnos-Xlf Deficiency	Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T...	ORPHA:169079
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci...	OMIM:619705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Nail dystrophy, T lymphocytopenia	OMIM:618806
Agammaglobulinemia 3, Autosomal Recessive	Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Agammaglob...	OMIM:613501
Immunodeficiency 96	Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati...	OMIM:619774
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Granuloma, Hepatosplenomegaly, Lymphopenia, Thrombocytopenia, Elevated proporti...	OMIM:619802
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level	OMIM:247800
Immunodeficiency 52	Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno...	OMIM:617514
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatosplenomegaly, Abnormal B cell count, Decreased circulating total IgM, Decreased proportion ...	ORPHA:331206
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616911
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in ha...	OMIM:607624
Immunodeficiency 25	Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve...	OMIM:610163
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Leukopenia, Lymphopenia, Decreased circulating IgG level, Spleno...	OMIM:620210
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig...	OMIM:618394
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:614069
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Reticular Dysgenesis	Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct...	OMIM:267500
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia, Decreased circulating antibody level	OMIM:616873
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Premature graying of hair, Bone marrow hypocellularity, Reticular hyperpigmentation, Lymphopenia,...	OMIM:619767
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ...	OMIM:212050
Immunodeficiency 64 With Lymphoproliferation	Hepatosplenomegaly, Increased circulating IgA level, Cervical lymphadenopathy, Decreased proporti...	OMIM:618534
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia	OMIM:617638
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p...	OMIM:618982
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Synophrys, Decreased circulating IgA level, Decreased circulatin...	OMIM:300861
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi...	OMIM:301081
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 lev...	OMIM:300310
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decrea...	OMIM:616100
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level...	OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt...	ORPHA:35078
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou...	OMIM:618108
Lymphangiectasia, Intestinal	Abnormal hair morphology, Decreased circulating IgG level, Lymphopenia	OMIM:152800
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig...	OMIM:605258
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, B lymphocytopenia,...	ORPHA:277
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:619220
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased specific anti-polysaccharide antibody level, Mediastinal lymph...	OMIM:300853
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou...	OMIM:243700
Immunodeficiency 22	Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Decreased circ...	OMIM:615758
Immunodeficiency 19	Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615617
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:614878
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ...	OMIM:601859
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig...	OMIM:608106
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM	OMIM:300636
Immunodeficiency 43	Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen...	OMIM:241600
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2, Abnormal B cell morphology, Decre...	OMIM:615607
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:615767
Immunodeficiency 76	Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia	OMIM:619164
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia	ORPHA:90023
Immunodeficiency 36 With Lymphoproliferation	Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ...	OMIM:616005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs...	OMIM:600802
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Partial absence of specific antibody...	OMIM:618986
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Ataxia-Pancytopenia Syndrome	Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast...	ORPHA:2585
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia, Anemia	OMIM:616740
Immunodeficiency 104	Lymphadenopathy, Splenomegaly, T lymphocytopenia	OMIM:608971
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia...	OMIM:202700
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T cells, Decreased ...	ORPHA:90362
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Macrocytic a...	OMIM:275350
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Reduced natural killer cell activity, Increased circulating Ig...	OMIM:308240
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Decreased circulating antibody...	OMIM:618116
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno...	ORPHA:2442
Immunodeficiency 13	Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel...	OMIM:615518
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea...	OMIM:102700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Increased circulating antibody level, Extramedullary hematopoiesis, Anemia, Thrombocy...	OMIM:615285
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs...	OMIM:619374
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Increased circulating IgA level, Increased CD4:CD8 ratio,...	OMIM:618048
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal natural killer cell physiology, Thrombocyt...	OMIM:613101
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Combined Immunodeficiency Due To Zap70 Deficiency	Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenitis, Eosi...	ORPHA:911
Adult Idiopathic Neutropenia	Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnormal neutrophil count, Monocytos...	ORPHA:2688
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Generaliz...	OMIM:614700
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Nail dystrophy, Leukopenia, Decreased circulating antibody level	OMIM:615190
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, D...	OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ...	OMIM:603909
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia, Agammaglobulinemia	OMIM:619693
Alpha-Heavy Chain Disease	Anemia, Alopecia, Lymphadenopathy, Splenomegaly, Dysgammaglobulinemia	ORPHA:100025
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased testicular size, Anemia, Decreased circulating IgA lev...	OMIM:620040
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgA level, Decreased response to growth ho...	OMIM:615577
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ...	ORPHA:169160
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane...	OMIM:617780
T-Cell Immunodeficiency With Thymic Aplasia	Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor...	OMIM:242700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Increased circulating IgG level, Lymphadeno...	OMIM:618495
Griscelli Syndrome	Iris hypopigmentation, Leukopenia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Hypo...	ORPHA:381
Agammaglobulinemia, X-Linked	Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ...	OMIM:300755
Rosaï-Dorfman Disease	Lymphadenopathy, Dysgammaglobulinemia, Anemia	ORPHA:158014
Ataxia-Telangiectasia	Premature graying of hair, Polycystic ovaries, Lymphopenia, Multiple cafe-au-lait spots, Hypopigm...	ORPHA:100
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas...	OMIM:209950
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Anemia	ORPHA:33355
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu...	OMIM:214450
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Increased circulating IgE level, Lymphopenia, Aplasia of the thymus,...	OMIM:602450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hepatosplenomegaly, Alopecia universalis, Decreased specific anti-polysaccharide antibody level, ...	OMIM:606367
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Hypertricho...	ORPHA:221139
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence of specific ...	OMIM:619652
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche...	OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin...	ORPHA:276
Autoimmune Lymphoproliferative Syndrome	Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe...	ORPHA:3261
Mu-Heavy Chain Disease	Abnormal B cell count, Increased circulating antibody level, Anemia, Lymphadenopathy, Splenomegaly	ORPHA:100024
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic...	OMIM:619313
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope...	ORPHA:231154
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia in presence of anti-neutropil antibodies, Abnormality of humoral immunity, Autoimmune...	ORPHA:572
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia, Alopecia	OMIM:616576
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Alopecia Antibody Deficiency	Sparse body hair, Abnormal eyelash morphology, Sparse hair, Decreased circulating antibody level,...	ORPHA:1006
Immunodeficiency With Hyper-Igm, Type 1	Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Neutro...	OMIM:308230
Mogs-Cdg	Hepatosplenomegaly, Decreased circulating total IgM, Long eyelashes, Decreased circulating IgA le...	ORPHA:79330
Schnitzler Syndrome	Leukocytosis, Anemia, Increased circulating IgM level, Lymphadenopathy, Splenomegaly	ORPHA:37748
Wiskott-Aldrich Syndrome	Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat...	OMIM:301000
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Decreased ...	ORPHA:331235
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Splenomegaly	OMIM:300635
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Impaired T cell function, Follicular hyperplasia, Decreased circ...	OMIM:240500
Immunodeficiency 68	Abscess, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
Kimura Disease	Abnormal salivary gland morphology, Increased circulating IgE level, Eosinophilia, Follicular hyp...	ORPHA:482
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ...	OMIM:242860
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Immunodeficiency, Common Variable, 6	Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or near-complete a...	OMIM:613496
Immunodeficiency 89 And Autoimmunity	Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin...	OMIM:619632
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Lymphadenopathy, ...	OMIM:617099
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Hypertrichosis, Decreased circulating antibody level, Synophrys	ORPHA:85317
Lymphoproliferative Syndrome 2	Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased l...	OMIM:615122
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Fine hair, Lymphopenia, White hair, Agammaglobulinemia	ORPHA:935
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Thrombocytopenia, B l...	OMIM:301078
Bone Marrow Failure Syndrome 5	Testicular atrophy, Anemia, Pure red cell aplasia, Reticular hyperpigmentation, Erythroid hypopla...	OMIM:618165
Immunodeficiency 47	Decreased circulating total IgM, Leukopenia, Normocytic anemia, Decreased circulating total IgA, ...	OMIM:300972
Bloom Syndrome	Decreased circulating total IgM, Patchy alopecia, Abscess, Acute lymphoblastic leukemia, Decrease...	ORPHA:125
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Decreased circul...	OMIM:601495
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Bloom Syndrome	Decreased circulating total IgM, Spotty hypopigmentation, Cryptorchidism, Hypertrichosis, Leukemi...	OMIM:210900
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ...	OMIM:617237
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Increased circulating IgM level, Increased circulating IgG ...	ORPHA:83313
Myotonic Dystrophy 2	Elevated circulating follicle stimulating hormone level, Decreased circulating total IgM, Decreas...	OMIM:602668
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, Decreased circulating total IgM, Increased circulating IgE level, Lymphopenia,...	ORPHA:508533
Hidrotic Ectodermal Dysplasia	Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing...	ORPHA:189
Immunodeficiency 40	Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, T lympho...	OMIM:616433
Icf Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia	ORPHA:2268
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Pgm3-Cdg	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Leukopenia...	ORPHA:443811
Macrocephaly/Autism Syndrome	Lymphopenia, Coarse hair, Hydrocele testis, Decreased circulating antibody level, Splenomegaly	OMIM:605309
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Aplasia of the eccrine sweat glands, Reduced natural killer cell...	OMIM:300291
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Decreased circulating antibody level, Cryptorchidism, Agammaglobulinemia	OMIM:616910
Ataxia-Telangiectasia	Hypoplasia of the thymus, Decreased circulating IgG2 level, Abnormal hair morphology, Leukemia, A...	OMIM:208900
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Anemia, Decreased circulating IgA level, Decreased circulating I...	OMIM:612301
Sézary Syndrome	Abnormal immunoglobulin level, Irregular hyperpigmentation, Abnormal lymphocyte morphology, Alope...	ORPHA:3162
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal circulating interferon-gamma...	ORPHA:79124
Roifman Syndrome	Hepatosplenomegaly, Hyperconvex nail, Eosinophilia, Lymphadenopathy, Decreased circulating antibo...	ORPHA:353298
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Cryptorchidism, Anemia, Severe B lymphocytopenia, Decreased circ...	OMIM:620005
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgA level, Periungual erythema, Nail dystrophy, Leukopenia, Anemia, Lymphop...	OMIM:615934
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Secondary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat...	ORPHA:90363
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair, Sideroblastic anemia, B lymphocytopenia, Hypochromic microcytic anemia, Decreased c...	OMIM:616084
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Netherton Syndrome	Hypereosinophilia, Increased circulating IgE level, Brittle hair, Decreased circulating IgG level...	OMIM:256500
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Immunodeficiency 12	Absent isohemagglutinin level, Decreased lymphocyte proliferation in response to anti-CD3, Abnorm...	OMIM:615468
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
Immunodeficiency 32B	Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Thrombocytopenia,...	OMIM:226990
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Increased circulating IgE level, Decreased circulating IgA level, Alopecia, Eosinophilia, Cutaneo...	OMIM:618282
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy, Hypertrichosis, Decreased circulating ant...	OMIM:619750
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia, Decreased circulating antibod...	ORPHA:90045
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgM, Anemia, Decreased circulating total IgA, Reduced natural killer ...	OMIM:619381
Aregenerative Anemia	Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro...	ORPHA:101096
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Impaired platelet aggregation, ...	OMIM:614072
Immunodeficiency 67	Increased circulating IgE level, Transient neutropenia, Liver abscess	OMIM:607676
Schimke Immunoosseous Dysplasia	Abnormal immunoglobulin level, Anemia, Hypermelanotic macule, Fine hair, Neutropenia, Lymphopenia...	OMIM:242900
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome...	OMIM:150550
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:607143
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia	OMIM:615966
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosi...	OMIM:243150
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa...	OMIM:608203
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Hypopigmentation of hair, Par...	ORPHA:79477
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop...	OMIM:615952
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Anemia, Hypopigmented skin patches, Alopecia, Thrombocytop...	ORPHA:47
Netherton Syndrome	Irregular hyperpigmentation, Trichorrhexis nodosa, Fine hair, Increased circulating IgE level, Sp...	ORPHA:634
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the ovary, Abnormal lymph nod...	ORPHA:543
Bare Lymphocyte Syndrome, Type Ii	Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia	OMIM:209920
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Decreased testicular size, Pituitary hypothyroidism, Decreased proportio...	ORPHA:66628
Immunodeficiency 23	Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Increased circulating Ig...	OMIM:615816
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat...	ORPHA:540
Woolly Hair	Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S...	ORPHA:170
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Vici Syndrome	Leukopenia, Decreased circulating IgG2 level, Cutaneous anergy, Neutropenia, Albinism, Lymphopeni...	OMIM:242840
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Decreased testicular size, Pituitary hypothyroidism, Decreased proportio...	ORPHA:179494
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Liver abscess, Decreased circulating IgA level, Decreased circul...	ORPHA:183675
Igg4-Related Aortitis	Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa...	ORPHA:449400
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Immunodeficiency 59 And Hypoglycemia	Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, High...	OMIM:233600
T-Cell Immunodeficiency With Thymic Aplasia	Oligoclonal T cell expansion, T lymphocytopenia, Decreased proportion of naive T cells, Lymphaden...	ORPHA:83471
Mucopolysaccharidosis-Plus Syndrome	Long eyelashes, Leukopenia, Anemia, Synophrys, Bone marrow hypocellularity, Low posterior hairlin...	OMIM:617303
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Thrombocytopenia, Abnormal leukocyte morphology, Decreased c...	ORPHA:169105
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Lymphopenia, Eosinophilia	OMIM:617425
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Lymphadenopathy, Decreased circulatin...	ORPHA:1572
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Trichothiodystrophy 5, Nonphotosensitive	Decreased testicular size, Tiger tail banding, Brittle hair, Slow-growing hair, Sparse eyebrow, R...	OMIM:300953
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Hypereosinophilia, Autoimmune hemolytic anemia, Increased circul...	OMIM:617388
Smith-Kingsmore Syndrome	Cryptorchidism, Curly hair, Decreased circulating IgA level, Cafe-au-lait spot, Thrombocytopenia	OMIM:616638
Autosomal Agammaglobulinemia	Neutropenia, Agammaglobulinemia	ORPHA:33110
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Vitiligo, Autoimmune thrombocytopenia, Abnormality of the periungual region, Severe B lymphocytop...	ORPHA:293978
Zika Virus Disease	Retinal pigment epithelial mottling, Thrombocytopenia, Increased circulating IgM level	ORPHA:448237
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Decreased circulating total IgM, Cryptorchidism, Severe B lymphocytopenia,...	ORPHA:83617
Ring Chromosome 21 Syndrome	Multiple cafe-au-lait spots, Decreased circulating antibody level	ORPHA:1445
Chediak-Higashi Syndrome	Giant neutrophil granules, Iris hypopigmentation, Leukopenia, Hemophagocytosis, Anemia, Giant mel...	OMIM:214500
Thymoma	Aplastic anemia, Pure red cell aplasia, Leukemia, Abnormal lymphocyte proliferation, Abnormal lym...	ORPHA:99867
Riddle Syndrome	Generalized lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level, De...	ORPHA:420741
Syndromic Diarrhea	Hypoplasia of the thymus, Generalized hypopigmentation, Uncombable hair, Trichorrhexis nodosa, Br...	ORPHA:84064
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve...	OMIM:618213
Whim Syndrome	Vitiligo, Lymphadenitis, Lymphopenia, Parotitis, Abnormality of neutrophil morphology, Decreased ...	ORPHA:51636
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Annular pancreas	OMIM:618162
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Autoimmune hemolytic anemia, Cafe-au-lait spot, Thrombocytop...	OMIM:251260
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Decreased circulating antibody level, Anemia, Thrombocytosis	OMIM:226300
Mannosidosis, Alpha B, Lysosomal	Vacuolated lymphocytes, Low anterior hairline, Thick eyebrow, Hypertrichosis, Decreased circulati...	OMIM:248500
Autoimmune Polyendocrinopathy Type 4	Leukopenia, Aplasia/Hypoplasia of the spleen, Vitiligo, Autoimmune thrombocytopenia, Non-caseatin...	ORPHA:227990
Autoimmune Polyendocrinopathy Type 3	Autoimmune hypoparathyroidism, Leukopenia, Aplasia/Hypoplasia of the spleen, Vitiligo, Autoimmune...	ORPHA:227982
Say-Barber-Miller Syndrome	Cryptorchidism, Impaired neutrophil chemotaxis, Highly arched eyebrow, Decreased circulating IgG ...	ORPHA:3132
Cowden Syndrome 1	Goiter, Lymphopenia, Ovarian carcinoma, Ovarian cyst, Hydrocele testis, Decreased circulating ant...	OMIM:158350
Igg4-Related Submandibular Gland Disease	Abnormality of the submandibular glands, Increased circulating IgG4 level, Increased circulating ...	ORPHA:449432
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Long eyelashes, Hypoplastic nipples, ...	ORPHA:79329
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Absent circulating B cells, Panhypogammaglobulinemia, Decreased response to growth hormone stimul...	OMIM:307200
Piebaldism	Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi...	ORPHA:2884
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Thymic Tumor	Mediastinal lymphadenopathy, Dysgammaglobulinemia	ORPHA:100100
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Albinism-Deafness Syndrome	Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism	OMIM:300700
Alg12-Cdg	Cryptorchidism, Partial absence of specific antibody response to Haemophilus influenzae type b (H...	ORPHA:79324
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M ...	ORPHA:91139
Trichothiodystrophy 1, Photosensitive	Trichoschisis, Freckling, Tiger tail banding, Trichorrhexis nodosa, Fine hair, Brittle hair, Frag...	OMIM:601675
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Low posterior hairline, Alopecia, Microcytic anemia, Hyperpigmented nev...	ORPHA:2959
Piebald Trait	Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr...	OMIM:172800
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro...	ORPHA:998
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Hypopigmented skin patches, Curly hair, Decreased circulating IgA level, Cafe-au-...	ORPHA:457485
Multiple Myeloma	Increased circulating IgA level, Anemia, Increased circulating IgG level, Lymphadenopathy, Decrea...	ORPHA:29073
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Long eyelashes, Decreased circulating IgA level	OMIM:606056
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatosplenomegaly, Leukocytosis, Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, L...	OMIM:615688
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Onychogryposis, Alopecia, Hyperpigmentation of the skin, Hypopigmentation of the skin, De...	ORPHA:79396
Spondyloenchondrodysplasia With Immune Dysregulation	Vitiligo, Hypermelanotic macule, Autoimmune thrombocytopenia, Lymphopenia, Hypopigmented skin pat...	OMIM:607944
Trichohepatoenteric Syndrome 1	Generalized hypopigmentation, Trichorrhexis nodosa, Fine hair, Brittle hair, Curly hair, Cafe-au-...	OMIM:222470
Vici Syndrome	Hypopigmentation of the skin, Decreased circulating IgG level, Decreased circulating IgG2 level, ...	ORPHA:1493
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Thrombocytopenia...	OMIM:614576
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Long eyelashes, Leukopenia, Thick hair, Anemia, Bone marrow hypocellularity, ...	ORPHA:505248
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Low anterior hairline, Decreased response to growth hormone stimulation test,...	OMIM:618223
Oculocutaneous Albinism Type 3	Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas...	ORPHA:79433
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal circulating in...	ORPHA:391487
Autoimmune Hepatitis	Increased circulating IgG level, Vitiligo, Splenomegaly, Increased circulating antibody level	ORPHA:2137
Primary Sjögren Syndrome	Cryoglobulinemia, Leukopenia, Increased circulating antibody level, Normocytic anemia, Vitiligo, ...	ORPHA:289390
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Immunodeficiency 58	Recurrent cutaneous abscess formation, Decreased specific antibody response to vaccination, Cutan...	OMIM:618131
Trichothiodystrophy	Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Anemia, Ridged nail, Tiger t...	ORPHA:33364
Insulin-Resistance Syndrome Type B	Increased circulating IgA level, Leukopenia, Abnormal salivary gland morphology, Polycystic ovari...	ORPHA:2298
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Alopecia, Macrocytic anemia, Thrombocytosis, Iron deficiency anemia	OMIM:212750
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypersplenism, Decreased circulating IgA level, Pancytopenia, Splenomegaly	OMIM:613385
Tick-Borne Encephalitis	Leukocytosis, Leukopenia, Abnormality of serum cytokine level, Increased circulating IgM level, I...	ORPHA:297
Distal Deletion 19P	Decreased circulating antibody level, Alopecia, Thick eyebrow	ORPHA:96129
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis...	OMIM:618278
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Hennekam Syndrome	Sparse axillary hair, Lymphopenia, Lymphadenopathy, Decreased circulating antibody level, Splenom...	ORPHA:2136
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Rift Valley Fever	Increased circulating IgG level, Thrombocytopenia, Anemia, Increased circulating IgM level	ORPHA:319251
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Abnormality of the ductus choledochus, Granuloma, Increased circ...	ORPHA:562639
Lipodystrophy, Congenital Generalized, Type 4	Hirsutism, Decreased circulating IgA level, Splenomegaly	OMIM:613327
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgA level, Abnormality of the submandibular glands, Increased circulating I...	ORPHA:79078
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Brucellosis	Lung abscess, Leukocytosis, Liver abscess, Leukopenia, Anemia, Orchitis, Granuloma, Increased cir...	ORPHA:1304
Leukocyte Adhesion Deficiency Type Ii	Long eyelashes, Leukocytosis, Anemia, Low anterior hairline, Microcytic anemia, Broad eyebrow, Ab...	ORPHA:99843
Okur-Chung Neurodevelopmental Syndrome	Synophrys, Decreased circulating IgA level, Highly arched eyebrow, Decreased circulating IgG leve...	OMIM:617062
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Dubowitz Syndrome	Cryptorchidism, Aplastic anemia, Acute lymphoblastic leukemia, Decreased circulating IgA level, S...	OMIM:223370
Cartilage-Hair Hypoplasia	Anemia, Abnormality of retinal pigmentation, Sparse eyebrow, Sparse hair, Decreased circulating a...	ORPHA:175
Japanese Encephalitis	Neutrophilia, Increased circulating antibody level, Increased circulating IgM level	ORPHA:79139
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Lymphadenitis, Parotitis, Eosinophilia, Complement deficiency	ORPHA:449427
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating IgA level, Increased circulating interferon-gamma concentration, Increased ...	OMIM:256040
Lysinuric Protein Intolerance	Hepatosplenomegaly, Leukopenia, Increased circulating antibody level, Hemophagocytosis, Anemia, A...	ORPHA:470
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis	OMIM:212065
Primary Biliary Cholangitis	Increased circulating IgA level, Hyperpigmentation of the skin, Increased circulating IgM level	ORPHA:186
Coccidioidomycosis	Abscess, Granuloma, Eosinophilia, Increased circulating IgM level, Increased circulating IgG leve...	ORPHA:228123
Igg4-Related Thyroid Disease	Goiter, Increased circulating IgG4 level, Abnormality of the pituitary gland, Nodular goiter, Sia...	ORPHA:64744
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Diarrhea 10, Protein-Losing Enteropathy Type	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating antibody le...	OMIM:618183
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pancreatic cysts, Decre...	OMIM:274000
Monosomy 18Q	Bilateral cryptorchidism, Low anterior hairline, Decreased circulating IgA level, Secondary growt...	ORPHA:1600
Crimean-Congo Hemorrhagic Fever	Leukocytosis, Leukopenia, Orchitis, Increased circulating IgM level, Increased circulating IgG le...	ORPHA:99827
Yellow Fever	Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,...	ORPHA:99829
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Histiocytosis, Splenomegaly, Neoplasm of the gallbladder, Cholelithiasis, Pol...	ORPHA:171
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatosplenomegaly, Decreased circulating antibody level, Anemia	ORPHA:247598
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Increased circulating IgG1 level, Abnormality of the anterior p...	ORPHA:449395
Igg4-Related Ophthalmic Disease	Increased circulating IgG4 level, Orchitis, Abnormality of the anterior pituitary, Increased circ...	ORPHA:449563
Congenital Ptosis	Long eyelashes, Cafe-au-lait spot, Piebaldism	ORPHA:91411
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Increased circulating antibody level, Abnormality of retinal pigmentation, Inc...	ORPHA:91500
Viss Syndrome	Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Alopecia, In...	OMIM:619472
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Secretory IgA deficiency, Curly hair, Decreased circulating IgG level, Sparse eyebrow, Broad late...	ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cryptorchidism, Asplenia, Broad eyebrow, Hydrocele testis, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Cryptorchidism, Asplenia, Horizontal eyebrow, Broad eyebrow, Hydrocele testis, Decreased circulat...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cryptorchidism, Asplenia, Broad eyebrow, Highly arched eyebrow, Hydrocele testis, Decreased circu...	ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ruvbl2

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 Ruvbl2.

No publications found that use IMPC mice or data for Ruvbl2.

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MGI Allele	Allele Type	Produced
Ruvbl2^{tm373458(L1L2_gt1_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ruvbl2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ruvbl2^em1(IMPC)Bay	Exon Deletion	Mice
Ruvbl2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ruvbl2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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