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Gene: Itk MGI:96621

Gene Summary

Name:

IL2 inducible T cell kinase

Synonyms:

Tcsk, Emt, Tsk

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal spleen morphology	Itk^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Itk^em1(IMPC)Mbp	HOM	Early adult	0.00
increased startle reflex	Itk^em1(IMPC)Mbp	HOM	Early adult	1.90×10^-06

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Itk 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 Itk (1 diseases)
Human diseases predicted to be associated with Itk (567 diseases)

The table below shows human diseases associated to Itk by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Lymphoproliferative Syndrome 1		Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011

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

Disease	Matching phenotypes	Source
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho...	ORPHA:277
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c...	OMIM:614493
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ...	OMIM:300400
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618987
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:620532
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo...	OMIM:619846
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level	ORPHA:100024
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Dystonia, Splenomegaly	ORPHA:139406
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po...	OMIM:304790
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis	ORPHA:2902
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo...	OMIM:618261
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:603909
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia...	OMIM:618282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA...	OMIM:102700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia	OMIM:601457
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ...	OMIM:243700
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u...	OMIM:620632
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph...	ORPHA:169160
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ...	OMIM:301000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618986
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Increased circulating Interferon-alpha concentration, Splenomegaly, Thrombocyto...	OMIM:615010
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ...	OMIM:600802
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia	OMIM:618495
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocyt...	OMIM:620565
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Immunodeficiency 66	Defective T cell proliferation	OMIM:618847
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Glut1 Deficiency Syndrome 2	Splenomegaly, Reticulocytosis, Tremor, Dystonia, Hemolytic anemia, Choreoathetosis	OMIM:612126
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Anemia, Decreased circulating complement C4 co...	OMIM:620514
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen...	OMIM:242700
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Increased circulating IgM level, Splenomegaly, Decreased circulating antibody ...	ORPHA:397596
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re...	ORPHA:572
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp...	OMIM:612783
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f...	ORPHA:158061
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga...	ORPHA:79124
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Intention tremor	OMIM:610539
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Increased circulating interferon-gamma concentration	OMIM:612952
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449432
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev...	OMIM:242860
Gaucher Disease Type 2	Hepatomegaly, Dystonia, Splenomegaly	ORPHA:77260
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly, Tremor, Hepatomegaly	OMIM:616719
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto...	ORPHA:3392
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemi...	ORPHA:37042
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate...	OMIM:616860
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:620010
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circulating interfero...	ORPHA:540
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Dystonia	OMIM:610333
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly	OMIM:613313
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Immunodeficiency 40	Thrombocytopenia, Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, T lympho...	OMIM:616433
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level	ORPHA:319218
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly, Dystonia, Choreo...	ORPHA:79312
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec...	OMIM:601495
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, In...	OMIM:617388
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	OMIM:617591
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive fungal infection, Opp...	ORPHA:83471
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Burkitt Lymphoma	Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ...	ORPHA:543
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Neutropenia	OMIM:616395
Sweet Syndrome	Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L...	ORPHA:3243
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu...	OMIM:615934
Pneumocystosis	Abnormal neutrophil count, Increased circulating antibody level	ORPHA:723
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Hepatosplenom...	OMIM:620376
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Igg4-Related Kidney Disease	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449395
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport...	ORPHA:331235
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Prolidase Deficiency	Anemia, Splenomegaly, Thrombocytopenia, Increased circulating antibody level	OMIM:170100
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti...	OMIM:266200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut...	OMIM:614700
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,...	OMIM:613179
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level	ORPHA:449563
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc...	ORPHA:848
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret...	OMIM:194380
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension...	ORPHA:824
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Trichinellosis	Increased circulating IgE level	ORPHA:863
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:179494
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, In...	OMIM:260920
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Tremor, Lymphadenopathy, Hepatomegaly	ORPHA:3162
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp...	OMIM:614576
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Cystic Echinococcosis	Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antibody level, Eosinophilia	ORPHA:400
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration	ORPHA:85435
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Wolman Disease	Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Ascites	ORPHA:2414
Gaucher Disease Type 1	Splenic infarction, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, In...	ORPHA:77259
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Increased c...	OMIM:610377
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess for...	OMIM:147060
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ...	ORPHA:1830
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Splenomegaly, Polysplenia	ORPHA:373
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni...	ORPHA:457077
Tick-Borne Encephalitis	Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase...	ORPHA:297
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Inc...	OMIM:617303
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration	ORPHA:319552
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:542323
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ...	OMIM:242840
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating interferon-gam...	ORPHA:391487
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Autoimmune Hepatitis	Increased circulating IgG level, Splenomegaly, Increased circulating antibody level	ORPHA:2137
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration	ORPHA:85410
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo...	ORPHA:231222
Stiff-Person Syndrome	Anemia, Opisthotonus, Exaggerated startle response	OMIM:184850
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Brain abscess, Leukocytosis, Thrombocytopenia, Incr...	ORPHA:544482
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased...	ORPHA:29073
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Exaggerated startle response	OMIM:268800
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Hereditary Orotic Aciduria	Impaired T cell function	ORPHA:30
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, D...	OMIM:257220
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology...	ORPHA:284
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ...	ORPHA:293978
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Absent circulating B cells, Panhypogammaglobulinemia	OMIM:307200
Poems Syndrome	Splenomegaly, Thrombocytosis, Polycythemia, Increased circulating antibody level	ORPHA:2905
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Cholecystitis, Macrocytic anemia, Splenomegaly, Tremor, Prolon...	OMIM:615512
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased circulating complement C3 concentration, De...	ORPHA:289390
Immunodeficiency 58	Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati...	OMIM:618131
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Q Fever	Granuloma, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytopen...	ORPHA:781
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level...	OMIM:619472
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	ORPHA:77261
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc...	OMIM:251260
Al Amyloidosis	Anemia, Howell-Jolly bodies, Increased circulating antibody level	ORPHA:85443
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thr...	ORPHA:505248
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function	OMIM:201100
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	OMIM:619381
Yellow Fever	Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 concentration, ...	ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Rift Valley Fever	Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia	ORPHA:319251
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia	OMIM:607944
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level, Granuloma	ORPHA:562639
Japanese Encephalitis	Neutrophilia, Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Leukopenia, Increased circulating IgA le...	ORPHA:2298
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration	ORPHA:69665
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration, Eosinophilia	ORPHA:449427
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Thrombocytopenia,...	ORPHA:1304
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia	OMIM:618223
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Reduced circulating complement concentration, ...	ORPHA:470
Scleromyxedema	Paraproteinemia	ORPHA:167635
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Aicardi-Goutieres Syndrome 7	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Hemol...	OMIM:615846
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response	ORPHA:79255
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level	OMIM:181000
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Increased circulating IgG level, Inc...	ORPHA:228123
Gaucher Disease	Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level,...	ORPHA:355
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci...	ORPHA:79078
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Primary Biliary Cholangitis	Increased circulating IgA level, Splenomegaly, Increased circulating IgM level	ORPHA:186
Tay-Sachs Disease	Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia	ORPHA:845
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia	ORPHA:83617
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Increased c...	ORPHA:99827
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Thrombocytopenia, Exaggerated startle response	OMIM:620423
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Postinfectious Vasculitis	Abnormality of humoral immunity, Increased circulating IgA level, Cryoglobulinemia, Increased cir...	ORPHA:48435
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin...	ORPHA:91500
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly	ORPHA:171
22Q11.2 Deletion Syndrome	Impaired T cell function, Hypoplasia of the thymus, Splenomegaly, Thrombocytopenia	ORPHA:567
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Digeorge Syndrome	Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia, Anemia	OMIM:188400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Dystonia, Exaggerated startle response	ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

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 Itk

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 Itk.

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

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MGI Allele	Allele Type	Produced
Itk^{tm33784(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Itk^em1(IMPC)Mbp	Exon Deletion	Mice
Itk^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Itk^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	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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Gene: Itk MGI:96621

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Itk mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data