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Gene: Setdb2 MGI:2685139

Gene Summary

Name:

SET domain, bifurcated 2

Synonyms:

KMT1F, LOC239122

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased grip strength	Setdb2^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.58×10^-09
increased startle reflex	Setdb2^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.57×10^-05
abnormal gait	Setdb2^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.58×10^-05
thrombocytopenia	Setdb2^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.98×10^-09

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.

Phenotype associated images not available

Human diseases caused by Setdb2 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 Setdb2 (0 diseases)
Human diseases predicted to be associated with Setdb2 (603 diseases)

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

The table below shows human diseases predicted to be associated to Setdb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Myelolymphatic Insufficiency	Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira...	OMIM:310350
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep...	ORPHA:70592
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections	OMIM:242870
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Mannose-Binding Lectin Deficiency	Disseminated cryptosporidium infection, Recurrent herpes, Recurrent Klebsiella infections, Recurr...	OMIM:614372
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia, Recurrent infections	OMIM:617014
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Tuftsin Deficiency	Abnormality of the spleen, Recurrent infections	OMIM:191150
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection...	OMIM:202700
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen...	OMIM:613501
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact...	OMIM:613500
Immunodeficiency 67	Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca...	OMIM:607676
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri...	ORPHA:2688
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec...	OMIM:613502
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren...	OMIM:613493
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia	OMIM:616873
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia	OMIM:193670
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lymphocytopenia, ...	ORPHA:169079
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec...	OMIM:608184
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Reduced natural killer cell count, Neutropenia, Recurrent infec...	OMIM:615214
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Post-vaccination polio, B lymphocytopenia, Recurrent infections	OMIM:616941
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections, Neutropenia	OMIM:606843
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps...	OMIM:616740
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni...	OMIM:612692
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni...	OMIM:159550
Immunodeficiency, Common Variable, 1	Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Decrease...	OMIM:607594
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia	OMIM:615010
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Bare Lymphocyte Syndrome, Type Ii	Recurrent urinary tract infections, Chronic lymphocytic meningitis, Recurrent viral infections, R...	OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Re...	ORPHA:572
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Reticular Dysgenesis	Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia...	OMIM:243700
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i...	ORPHA:911
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea...	ORPHA:276
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr...	ORPHA:486
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N...	OMIM:615285
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia	OMIM:229050
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac...	OMIM:617475
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Malaria	Anemia, Gait imbalance, Thrombocytopenia	ORPHA:673
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Immunodeficiency, Common Variable, 2	Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent...	OMIM:240500
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymph...	OMIM:616005
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Rectal abs...	OMIM:601495
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233710
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b...	OMIM:612840
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ...	OMIM:619707
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia	OMIM:619302
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233690
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG...	OMIM:226990
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Recurren...	ORPHA:331206
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous cand...	OMIM:147060
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytope...	OMIM:619281
Aicardi-Goutieres Syndrome 3	Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections	OMIM:612783
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S...	ORPHA:169090
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Severe varicella zos...	OMIM:615387
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni...	OMIM:603554
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections, Autoimmune thrombocytopenia	OMIM:613496
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Pure red cell aplasia, Recurrent...	OMIM:613179
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent mycobacterial infections, Increased T cell count, Invasive fungal infection, Severe vir...	ORPHA:98813
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,...	ORPHA:331235
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop...	OMIM:618986
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Intention tremor	OMIM:610539
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Eosinophilia, Recurrent viral infections, Autoimmune thrombocytopenia, Decreased...	ORPHA:169154
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Meningitis, Recurrent b...	OMIM:307200
Congenital Disorder Of Glycosylation, Type Iic	Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility	OMIM:266265
Thyrocerebroretinal Syndrome	Ataxia, Thrombocytopenia	OMIM:274240
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Neutropenia, Choreoathetosis, Anemia, Dystonia, Thrombocytopenia	ORPHA:289916
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor...	OMIM:606367
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Recurrent viral infections, Recurrent bacterial infections, B lymphocyto...	OMIM:618048
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Choreoathetosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:27
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Pgm3-Cdg	Recurrent respiratory infections, Hemolytic anemia, Abnormal proportion of CD8-positive T cells, ...	ORPHA:443811
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome...	OMIM:301078
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:79312
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:306400
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Hemolytic anemia, Pneumocystis carinii pneumonia, Splenomegaly, Sepsis,...	OMIM:308230
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia	OMIM:610333
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Ataxia, Thrombocytopenia	OMIM:231000
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Immunodeficiency 12	Recurrent bacterial infections, Recurrent lower respiratory tract infections, Abnormal lymphocyte...	OMIM:615468
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent he...	ORPHA:183675
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Abscess, Recurrent staphylococcal infections,...	OMIM:615816
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte...	OMIM:612541
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Recur...	OMIM:102700
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal...	OMIM:608233
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Neutropenia, Anemia	ORPHA:88
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Dysmetria, Athetosis, Dystonia, Thrombocytopenia	OMIM:617710
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, BCGosis, Recurrent pneumonia, Severe viral infection, Hepatosplenomegaly, Monocytos...	OMIM:619644
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Ataxia, Thrombocytopenia	OMIM:249270
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,...	OMIM:603903
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,...	OMIM:618849
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le...	ORPHA:3226
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Intention tremor, Thrombocytope...	OMIM:254900
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Recurrent respiratory infecti...	ORPHA:167
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Thrombocytopenia	OMIM:616577
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormal neutrophil morphology...	ORPHA:51636
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Thrombocytopenia	OMIM:222300
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Neutropenia, Chronic neutropenia, Recurrent infections	OMIM:258360
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Mirage Syndrome	Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Recurrent bacterial infections, Leu...	OMIM:617053
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Dystonia, Thrombocytopenia	ORPHA:3240
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia	OMIM:619151
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:507
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Cog4-Cdg	Ataxia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se...	OMIM:300755
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma...	ORPHA:221139
Propionic Acidemia	Pancytopenia, Neutropenia, Anemia, Dystonia, Thrombocytopenia	OMIM:606054
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum	OMIM:300291
Preeclampsia	Thrombocytopenia	ORPHA:275555
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:616271
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Griscelli Syndrome	Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Thrombocytopenia	ORPHA:381
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Difficulty walking	ORPHA:320406
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Dysmetria, Athetosis, Difficulty walking, Limb dystonia, Thrombocytopenia	ORPHA:572798
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Holocarboxylase Synthetase Deficiency	Ataxia, Thrombocytopenia	ORPHA:79242
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Vici Syndrome	Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ...	OMIM:242840
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Recurrent bacterial infections, Meningitis	ORPHA:36412
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Recurrent staphylococcal infections, ...	ORPHA:2968
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Wilson Disease	Splenomegaly, Thrombocytopenia, Difficulty walking, Anemia	ORPHA:905
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Leukocytosis, Severe infection, Sepsis, Leukopenia	ORPHA:36238
Aicardi-Goutieres Syndrome 1	Inability to walk, Splenomegaly, Thrombocytopenia, Dystonia	OMIM:225750
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia	ORPHA:3322
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Recurrent bacterial infections, Leukocytosis, Anemia	OMIM:615895
Schimke Immunoosseous Dysplasia	Waddling gait, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thromb...	OMIM:242900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Alg8-Cdg	Thrombocytopenia, Ataxia, Anemia	ORPHA:79325
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Mevalonic Aciduria	Normocytic hypoplastic anemia, Ataxia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly...	OMIM:610377
Pneumocystosis	Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Chronic oral candidiasis	ORPHA:723
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia	OMIM:616881
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Ataxia, Broad-based gait, Dystonia	ORPHA:438216
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis...	ORPHA:158048
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Adult-Onset Still Disease	Neutrophilia, Splenomegaly, Recurrent pharyngitis, Leukocytosis, Meningitis	ORPHA:829
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re...	ORPHA:244
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Ataxia, Aplastic anemia, Leukopenia, Thrombocytopenia	OMIM:613990
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Recurrent bacterial infe...	OMIM:300972
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes	OMIM:248500
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Ataxia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thr...	OMIM:603553
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro...	OMIM:127550
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Anemia, Neutropenia, Thrombocytopenia	OMIM:251100
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	OMIM:267700
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Thrombocytopenia, Limb dystonia	ORPHA:457351
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Glycogen Storage Disease Ib	Splenomegaly, Recurrent bacterial infections, Neutropenia	OMIM:232220
X-Linked Agammaglobulinemia	Thrombocytopenia, Anemia, Neutropenia	ORPHA:47
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia	OMIM:608104
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Inability to walk, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:617303
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Dystonia	OMIM:251290
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:64743
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Tay-Sachs Disease	Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Hepatosplenomegaly, Gait dist...	ORPHA:845
Felty Syndrome	Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Pediatric-Onset Graves Disease	Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia	ORPHA:525731
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:614576
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response	OMIM:617864
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop...	OMIM:278000
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Gaucher Disease, Perinatal Lethal	Akinesia, Splenomegaly, Opisthotonus, Anemia, Hepatosplenomegaly, Thrombocytopenia	OMIM:608013
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Overlap Myositis	Leukopenia, Difficulty walking, Thrombocytopenia	ORPHA:206572
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	OMIM:259700
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Anemia	OMIM:170100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Recurrent infections, Chronic oral ...	OMIM:260920
Postinfectious Vasculitis	Persistent human papillomavirus infection, Recurrent mycobacterial infections, Severe varicella z...	ORPHA:48435
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Anemia, Dystonia, Thrombocytopenia	OMIM:612199
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c...	ORPHA:1830
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:77259
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Thrombocytopenia	OMIM:301056
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Recurrent infections, Chronic lymphatic leuke...	ORPHA:3243
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Sandhoff Disease	Exaggerated startle response, Ataxia, Hepatosplenomegaly	OMIM:268800
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Gaucher Disease Type 3	Pancytopenia, Ataxia, Splenomegaly, Anemia, Gait disturbance, Thrombocytopenia	ORPHA:77261
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Leukocyte Adhesion Deficiency Type Ii	Recurrent urinary tract infections, Neutrophilia, Chronic lymphocytic meningitis, Microcytic anem...	ORPHA:99843
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Ataxia, Increased mean platelet volume	OMIM:616737
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Postural tremor, Splenomegaly, Truncal ataxia, Thrombocytopenia	OMIM:301072
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic...	OMIM:557000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia	OMIM:617591
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Lujo Hemorrhagic Fever	Resting tremor, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319213
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Thrombocytopenia	OMIM:618775
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia	OMIM:208085
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia	ORPHA:79259
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Mogs-Cdg	Dystonia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Wilson Disease	Hemolytic anemia, Dystonia, Tremor, Splenomegaly, Hand tremor, Anemia, Limb dystonia, Thrombocyto...	OMIM:277900
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Atelis Syndrome 2	Thrombocytopenia, Anemia, Dysmetria	OMIM:620185
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hepatosplenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:505248
Farber Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:333
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Neuroleptic Malignant Syndrome	Oculogyric crisis, Tremor, Leukocytosis, Thrombocytosis, Thrombocytopenia	ORPHA:94093
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Fibular Hemimelia	Difficulty walking, Thrombocytopenia	ORPHA:93323
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Lysinuric Protein Intolerance	Thrombocytopenia, Hepatosplenomegaly, Recurrent bacterial infections, Leukopenia, Hemophagocytosi...	ORPHA:470
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia	ORPHA:36234
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia	OMIM:251880
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Hepatosplenomegaly	ORPHA:79255
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Tick-Borne Encephalitis	Tremor, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Alg12-Cdg	B lymphocytopenia, Thrombocytopenia	ORPHA:79324
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Shigellosis	Splenic abscess, Leukocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:810
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Dystonia, Thrombocytopenia	OMIM:615846
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen...	ORPHA:171
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Pearson Syndrome	Reticulocytosis, Pancytopenia, Ataxia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thr...	ORPHA:699
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Broad-based gait, Abnormality of the spleen, Splenomegaly, Limb ataxia, Hepatosplen...	ORPHA:2072
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Q Fever	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:781
Lysinuric Protein Intolerance	Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	OMIM:222700
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Gaucher Disease	Pancytopenia, Ataxia, Tremor, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:355
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Kikuchi-Fujimoto Disease	Ataxia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Dyskeratosis Congenita	Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly	ORPHA:1775
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Tremor, Chronic lymphatic leukemia, Hepatosplenomegaly, Dif...	ORPHA:51
Tangier Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:31150
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Ataxia, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia	ORPHA:2785
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:480520
Porphyria, Congenital Erythropoietic	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:263700
Ogden Syndrome	Iron deficiency anemia, Torticollis, Polycythemia, Thrombocytopenia	OMIM:300855
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Insulin-Resistance Syndrome Type B	Leukopenia, Thrombocytopenia	ORPHA:2298
Brucellosis	Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia	ORPHA:1304
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections	ORPHA:2273
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Anemia	ORPHA:163979
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, T...	ORPHA:77293
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Osteogenesis Imperfecta	Loss of ambulation, Ataxia, Gait disturbance, Thrombocytopenia	ORPHA:666
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia	ORPHA:84
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:340
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
22Q11.2 Deletion Syndrome	Splenomegaly, Hypoplasia of the thymus, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:567
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc...	ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Thrombocytopenia	ORPHA:544482
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Oculocerebrorenal Syndrome Of Lowe	Anemia, Thrombocytopenia	ORPHA:534
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Exercise-Induced Malignant Hyperthermia	Ataxia, Thrombocytopenia	ORPHA:466650
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia, Anemia	ORPHA:438213
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iiw	Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia	OMIM:619525
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Hardikar Syndrome	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	OMIM:301068
Acute Liver Failure	Ataxia, Thrombocytopenia	ORPHA:90062
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	ORPHA:731
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Thrombocytopenia, Microcytic anemia	OMIM:256040
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia	ORPHA:797
Liver Disease, Severe Congenital	Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia	OMIM:619991
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia	ORPHA:642
Digeorge Syndrome	Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Anemia	OMIM:188400
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950
Leptospirosis	Thrombocytopenia	ORPHA:509
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 Setdb2

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 Setdb2.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Coronavirus induces diabetic macrophage-mediated inflammation via SETDB2.	Proceedings of the National Academy of Sciences of the United States of America (September 2021)	Setdb2^{tm1c(KOMP)Wtsi}	34479991
Deficiency of histone lysine methyltransferase SETDB2 in hematopoietic cells promotes vascular inflammation and accelerates atherosclerosis.	JCI insight (June 2021)	Setdb2^{tm1a(KOMP)Wtsi}	PMC8262461
The Histone Methyltransferase Setdb2 Modulates Macrophage Phenotype and Uric Acid Production in Diabetic Wound Repair.	Immunity (July 2019)	Setdb2^{tm1c(KOMP)Wtsi}	31350176
SETDB2 Links Glucocorticoid to Lipid Metabolism through Insig2a Regulation.	Cell metabolism (August 2016)	Setdb2^{tm1c(KOMP)Wtsi} Setdb2^{tm1a(KOMP)Wtsi}	PMC5023502
Type I Interferon Induced Epigenetic Regulation of Macrophages Suppresses Innate and Adaptive Immunity in Acute Respiratory Viral Infection.	PLoS pathogens (December 2015)	Setdb2^{tm1c(KOMP)Wtsi} Setdb2^{tm1a(KOMP)Wtsi}	PMC4692439

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Setdb2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Setdb2^{tm1e(KOMP)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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