Gene Summary

Name:
SET domain, bifurcated 2
Synonyms:
KMT1F,  LOC239122

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytopenia Setdb2tm1a(KOMP)Wtsi HOM Early adult 5.98×10-09
increased startle reflex Setdb2tm1a(KOMP)Wtsi HOM   Early adult 4.57×10-05
increased grip strength Setdb2tm1a(KOMP)Wtsi HOM   Early adult 6.58×10-09
abnormal gait Setdb2tm1a(KOMP)Wtsi HOM Early adult 7.58×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infect... OMIM:616022
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
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 protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent bronchitis, Neutropenia, Recurr... OMIM:613501
Immunodeficiency 53
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections OMIM:617585
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Tuftsin Deficiency
Recurrent infections, Abnormality of the spleen OMIM:191150
X-Linked Severe Congenital Neutropenia
Neutropenia, Recurrent bacterial infections, Monocytopenia ORPHA:86788
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections OMIM:615214
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia, Perianal... OMIM:619437
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 50
Neutropenia, Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia OMIM:300988
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Frequent Giardia lamblia infestation, Rec... OMIM:300310
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections, Liver abscess, Transient... OMIM:607676
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Recurrent bacterial infections,... ORPHA:2688
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Thrombocytopenia, ... ORPHA:169079
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Acute lymphoblastic leukemia OMIM:610738
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Neutropenia, Abnorma... OMIM:613502
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent bacterial infections, Recurrent sinusitis, Recurrent respirator... OMIM:613493
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Immunodeficiency, Common Variable, 13
Pancytopenia, Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Recurrent bronchopulmonary infections ORPHA:90023
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Autoimmune hemolytic anemia, Autoimmune thrombocyto... OMIM:608184
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Disseminated nontuberculous mycobacterial infection, Recurrent mycobacterial infections, Histopla... ORPHA:319552
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Recurrent infections OMIM:616941
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedul... OMIM:615285
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Whim Syndrome 1
Neutropenia, Recurrent upper respiratory tract infections, Recurrent bacterial infections OMIM:193670
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis... OMIM:612692
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Recurrent bacterial infections OMIM:606843
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 46
Intermittent thrombocytopenia, Meningitis, Neutropenia, Anemia, Sepsis, Recurrent sinopulmonary i... OMIM:616740
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Splenomegaly, Recurr... OMIM:607594
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Ataxia-Pancytopenia Syndrome
Pancytopenia, Dysmetria, Hypoplastic anemia, Ataxia, Unsteady gait, Neutropenia, Anemia, Thromboc... OMIM:159550
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Recurrent viral infe... ORPHA:572
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Trimethylaminuria
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Sepsis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Recurrent viral infections, Recurrent ... OMIM:243700
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Recurrent viral infections, Recurrent mycobacterial infections,... ORPHA:911
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Recurrent viral infections, Recurrent mycobacterial... ORPHA:275
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased proportion of CD3-positive T cells, Severe recur... ORPHA:276
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Gait ataxia, Postural tremor, Thrombocytopenia OMIM:254900
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
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
Omenn Syndrome
Eosinophilia, Recurrent viral infections, Recurrent bacterial infections, Splenomegaly, Severe B ... OMIM:603554
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Neutropenia, Anemia,... OMIM:617475
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Recurrent ear infections, Recurrent viral infections, Leukemia, Recurr... ORPHA:486
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... OMIM:614470
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, T lymphocytopenia, Chronic oral... ORPHA:83471
Malaria
Anemia, Gait imbalance, Thrombocytopenia ORPHA:673
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Recurrent bacterial infections, Neut... OMIM:601495
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:233710
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Splenomegaly, Mening... OMIM:240500
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent bacterial infections, Splenomegaly, Anemia, Sepsis, E... OMIM:612840
Immunodeficiency 36
Recurrent bacterial infections, Splenomegaly, Recurrent respiratory infections, Chronic lymphatic... OMIM:616005
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess, Recurrent bacterial infections, Recurrent staphylococcal infections... OMIM:116920
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Meningitis, Recurrent respiratory infections, Recurrent sinusitis, Absent ... OMIM:619707
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:233690
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells OMIM:619693
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, Recurrent sinusitis... OMIM:619281
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, S... ORPHA:169090
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Recurrent viral i... ORPHA:331206
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Eosinophilia, Cutaneous abscess,... OMIM:147060
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Dystonia, Thrombocytopenia OMIM:610329
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Recurrent urinary tract infection... ORPHA:331235
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections OMIM:613496
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Folate Malabsorption, Hereditary
Leukopenia, Athetosis, Ataxia, Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:229050
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Autoimmune hemolytic an... OMIM:613179
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Dystonia, Thrombocytopenia, Anemia OMIM:619302
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Recurrent otitis media, Recurrent pneumonia, Leukopenia, T lymphocytopenia, Hepatos... OMIM:618986
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nonprogressive cerebellar ataxia ORPHA:3327
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619301
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Recurrent infections, Recurrent upper respiratory tract infections, Decreased propo... ORPHA:169154
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Meningitis, Ente... OMIM:307200
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Thyrocerebroretinal Syndrome
Thrombocytopenia, Ataxia OMIM:274240
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Recurrent bacterial infections, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Recurrent bacterial infections, Splenomegaly, Neutropenia, Recurrent res... OMIM:612541
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Recurrent viral infections, Decreased proportion of CD4+CD... OMIM:606367
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Pgm3-Cdg
Eosinophilia, Recurrent pneumonia, Recurrent infections, Decreased proportion of CD3-positive T c... ORPHA:443811
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis OMIM:266265
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Severe Epstein Barr virus infection, Hemophagocytosis, Infectious encephalitis, Spl... OMIM:308240
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Ataxia, Splenomegaly OMIM:231000
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:306400
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurr... ORPHA:183675
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Dystonia, Splenomegaly, Thrombocytopenia OMIM:610333
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Recurrent pneumonia, Reduced red cell adenosine deaminase level, Recurrent viral in... OMIM:102700
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Splenomegaly, Meningitis, Neutropenia, Hemolytic anemia, Sepsis, ... OMIM:308230
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Idiopathic Aplastic Anemia
Pancytopenia, Recurrent infections, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense granule content, Thrombocyt... OMIM:601399
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Eosinophilia, Molluscum contagiosum, Severe varicella... OMIM:615816
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Aicardi-Goutieres Syndrome 7
Dystonia, Thrombocytopenia, Splenomegaly OMIM:615846
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Chediak-Higashi Syndrome
Recurrent infections, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Neut... OMIM:214500
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Hepatosplenomegaly, Dec... OMIM:608233
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:613101
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Ataxia, Anemia, Macrocytic anemia, Thrombocytopenia ORPHA:27
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Dystonia, Thrombocytopenia ORPHA:289916
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Extrapulmonary tuberculos... OMIM:619644
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Ataxia, Thiamine-responsive megaloblastic anemia OMIM:249270
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Sickle Cell Anemia
Increased red cell sickling tendency, Leukocytosis, Recurrent bacterial infections, Splenomegaly,... OMIM:603903
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Bone Marrow Failure Syndrome 6
Neutropenia, Recurrent sinusitis, Anemia, Increased mean corpuscular volume, Persistence of hemog... OMIM:618849
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Recurrent res... ORPHA:3226
Whim Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent bacterial infections... ORPHA:51636
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Chédiak-Higashi Syndrome
Pancytopenia, Recurrent infections, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytosis,... ORPHA:167
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Ataxia, Thrombocytopenia, Tremor OMIM:222300
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Recurrent infections, Lymphocytosis OMIM:258360
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Babesiosis
Leukopenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:108
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... ORPHA:824
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Severe infection, Severe cytomegalovirus infection, Splenomegaly,... ORPHA:158048
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Thrombocytopenia OMIM:616577
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:507
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Recurrent bacterial infections, Anemia, Recurrent urinary tract i... OMIM:617053
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Hypochromic microcytic anemia, Thrombocytopenia, Head titubation ORPHA:3240
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Recurrent viral infections, Leukemia, Impaired neutr... ORPHA:811
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:229717
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Molluscum contagiosum, Recurrent bacterial infections OMIM:300291
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Recurrent otitis media, Recurrent infections, T lymphocytopenia, Infectious ... OMIM:300755
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections OMIM:244460
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Decreased p... ORPHA:221139
Preeclampsia
Thrombocytopenia ORPHA:275555
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia ORPHA:158029
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Griscelli Syndrome
Leukopenia, Splenomegaly, Ataxia, Abnormality of neutrophils, Thrombocytopenia ORPHA:381
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Waddling gait, Abnormal T cell morphology OMIM:242900
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Vici Syndrome
Recurrent viral infections, Recurrent bacterial infections, Decreased proportion of CD4-positive ... OMIM:242840
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Neonatal Lupus Erythematosus
Pancytopenia, Splenomegaly, Neutropenia, Anemia, Hemolytic anemia, Aplastic anemia, Thrombocytopenia ORPHA:398124
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Propionic Acidemia
Pancytopenia, Dystonia, Neutropenia, Anemia, Thrombocytopenia OMIM:606054
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Tremor OMIM:274150
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Ataxia ORPHA:79242
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia OMIM:611209
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Ataxia ORPHA:263501
Wars2-Related Combined Oxidative Phosphorylation Defect
Dysmetria, Athetosis, Ataxia, Limb dystonia, Thrombocytopenia, Difficulty walking, Tremor ORPHA:572798
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Thrombocytopenia OMIM:614857
Leukocyte Adhesion Deficiency
Leukocytosis, Impaired neutrophil chemotaxis, Thrombocytosis, Recurrent bacterial infections, Acu... ORPHA:2968
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Splenomegaly, Meningitis ORPHA:36412
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Tremor OMIM:251100
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Abnormality of thrombocytes OMIM:187900
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Wilson Disease
Anemia, Difficulty walking, Thrombocytopenia, Splenomegaly ORPHA:905
Lig4 Syndrome
Pancytopenia, Thrombocytopenia OMIM:606593
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Severe infection, Neutrophilia, Sepsis ORPHA:36238
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Refractory Anemia With Excess Blasts
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of inadequate prod... ORPHA:86839
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Aicardi-Goutieres Syndrome 1
Inability to walk, Dystonia, Thrombocytopenia, Splenomegaly OMIM:225750
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Leukopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Adult-Onset Still Disease
Leukocytosis, Neutrophilia, Splenomegaly, Meningitis, Recurrent pharyngitis ORPHA:829
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Severe cytomegalovirus infection, Autoimmune hemolytic anemia, Recurr... OMIM:619573
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Ataxia, Aplastic anemia, Thrombocytopenia OMIM:613990
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Ataxia... OMIM:610377
Alg8-Cdg
Anemia, Thrombocytopenia, Ataxia ORPHA:79325
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Splenomegaly, Vacuolated lymphocytes OMIM:248500
Pneumocystosis
Abnormal neutrophil count, Chronic oral candidiasis, Pneumocystis jirovecii pneumonia ORPHA:723
Glycogen Storage Disease Ib
Neutropenia, Recurrent bacterial infections OMIM:232220
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Asplenia, Recurrent sinopulmonary inf... ORPHA:244
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:606003
Dyskeratosis Congenita, Autosomal Dominant 1
Ataxia, Thrombocytopenia, Anemia, Aplastic anemia, Lymphopenia OMIM:127550
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Inability to walk, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Ataxia, Anemia, Thr... OMIM:603553
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Thrombocytopenia ORPHA:47
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Ataxia ORPHA:3322
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Ataxia, Anemia, Thrombocytopenia OMIM:267700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia OMIM:251000
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Immunodeficiency 47
Recurrent infections, Leukopenia, Normocytic anemia, Accessory spleen, Recurrent bacterial infect... OMIM:300972
Chromomycosis
Recurrent bacterial infections ORPHA:182
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:47612
Pseudo-Torch Syndrome 1
Dystonia, Thrombocytopenia, Splenomegaly OMIM:251290
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Leukopenia, Thrombocytopenia OMIM:613845
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:614576
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia OMIM:614520
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Tremor ORPHA:525731
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:64743
Overlap Myositis
Leukopenia, Difficulty walking, Thrombocytopenia ORPHA:206572
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Broad-based gait, Exaggerated startle response ORPHA:438216
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Hypersplenism, Thro... OMIM:278000
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Gaucher Disease, Perinatal Lethal
Opisthotonus, Hepatosplenomegaly, Splenomegaly, Akinesia, Anemia, Thrombocytopenia OMIM:608013
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Thrombocytopenia, Limb dystonia ORPHA:457351
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Anemia, Thrombocytopenia, Splenomegaly OMIM:259700
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abno... ORPHA:79124
Cyclic Neutropenia
Cyclic neutropenia, Lymphopenia, Thrombocytopenia, Decreased eosinophil count ORPHA:2686
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277380
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Prolidase Deficiency
Anemia, Thrombocytopenia, Splenomegaly OMIM:170100
Hyper-Igd Syndrome
Recurrent infections, Hepatosplenomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Molluscum con... OMIM:260920
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Severe Epstein Barr virus infection, Recurrent mycoba... ORPHA:48435
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Ataxia, Anemia, Thrombocytopenia, Tremor OMIM:612199
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:600901
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:235400
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymphopenia, Decreased proportion ... ORPHA:1830
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:77259
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Ataxia, Anemia, Gait disturbance, Thrombocytopenia ORPHA:77261
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227650
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Anemia, Hypochromic microcytic anemia, Thrombocytopenia... OMIM:259720
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia, Reticulocytopenia, Lymphopenia ORPHA:508542
Sweet Syndrome
Sterile abscess, Recurrent infections, Leukocytosis, Neutrophilia, Acute myeloid leukemia, Anemia... ORPHA:3243
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Thrombocytopenia ORPHA:391673
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Tay-Sachs Disease
Dysmetria, Dystonia, Inability to walk, Gait disturbance, Laryngeal dystonia, Exaggerated startle... ORPHA:845
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent pneumonia, Recurrent otitis media, Recurrent infections, Leukocytosi... ORPHA:99843
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Ataxia, Increased mean platelet volume OMIM:616737
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Megaloblastic anemia, Thrombocytopenia, Tremor OMIM:277400
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227645
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... OMIM:557000
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly OMIM:617591
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sandhoff Disease
Hepatosplenomegaly, Ataxia, Exaggerated startle response OMIM:268800
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:169105
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytop... ORPHA:2330
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Resting tremor, Thrombocytopenia, Lymphopenia ORPHA:319213
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal platelet function, Abnormal eosinophil morphology, ... ORPHA:906
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia ORPHA:79259
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Inability to walk, Anemia, Thrombocytopenia ORPHA:505248
Mogs-Cdg
Hepatosplenomegaly, Dystonia, Thrombocytopenia ORPHA:79330
Shwachman-Diamond Syndrome 2
Neutropenia, Thrombocytopenia, Normocytic anemia OMIM:617941
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Thrombocytopenia OMIM:603467
Neuroleptic Malignant Syndrome
Leukocytosis, Oculogyric crisis, Thrombocytosis, Thrombocytopenia, Tremor ORPHA:94093
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Anemia, Thrombocytopenia ORPHA:464329
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Fibular Hemimelia
Difficulty walking, Thrombocytopenia ORPHA:93323
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Farber Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:333
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227646
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia ORPHA:261323
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Thrombocytopenia, Increased circulating metamyelocyte count ORPHA:36234
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Thrombocytopenia, Tremor ORPHA:297
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Megaloblastic anemia, Thrombocytopenia, Ataxia ORPHA:79282
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Lysinuric Protein Intolerance
Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infections, Anemia, Thrombo... ORPHA:470
Shigellosis
Microangiopathic hemolytic anemia, Leukocytosis, Thrombocytopenia, Splenic abscess ORPHA:810
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... OMIM:105650
Thrombocytopenia-Absent Radius Syndrome