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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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 Similarity of
phenotypes
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.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ruvbl2tm373458(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ruvbl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ruvbl2em1(IMPC)Bay Exon Deletion Mice
Ruvbl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ruvbl2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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