Gene Summary

Name:
epoxide hydrolase 1, microsomal
Synonyms:
Eph-1,  Eph1,  mEH

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
decreased erythrocyte cell number Ephx1Ephx1 HOM Early adult 7.23×10-06
increased startle reflex Ephx1Ephx1 HOM   Early adult 6.20×10-12
increased mean corpuscular volume Ephx1Ephx1 HOM Early adult 2.55×10-06
increased IgA level Ephx1Ephx1 HOM Early adult 1.04×10-05
thrombocytopenia Ephx1Ephx1 HOM Early adult 3.51×10-08
decreased circulating triglyceride level Ephx1Ephx1 HOM Early adult 5.91×10-06

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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 Ephx1 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 Ephx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Abnormality of complement system, Decreased serum complement f... ORPHA:2134
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... ORPHA:169154
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgA level, Intermittent thrombocytopenia, I... OMIM:313900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocy... OMIM:608898
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Anemia, Splenomegaly, Intention tremor, Hypersplenism, Thrombocytopenia OMIM:610539
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro... OMIM:614470
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... OMIM:619220
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Hypertriglyceridemia, Thrombocytopenia, Hemophagocytosis OMIM:603552
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia OMIM:616576
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Anemia, Increased circulating IgG le... OMIM:615934
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hypereosinophilia... OMIM:617388
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Thrombocytopenia, Action tremor, Intention tremor OMIM:254900
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute myeloid leukem... ORPHA:86839
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Malaria
Thrombocytopenia, Anemia ORPHA:673
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:616100
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Lymphoproliferative Syndrome 1
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Spleno... OMIM:613011
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Mu-Heavy Chain Disease
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:231095
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia ORPHA:555905
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity OMIM:613987
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... OMIM:173470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... OMIM:102700
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ... ORPHA:507
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... OMIM:601399
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... OMIM:209950
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Decreased circulating IgG level, Splen... OMIM:240500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement deficiency, Parap... ORPHA:91139
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Decreased serum complement fac... OMIM:235400
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co... OMIM:615559
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat... ORPHA:29073
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Anemia, Splenomegaly, Hypertriglyceridemia, Abn... ORPHA:158061
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia OMIM:243500
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat... ORPHA:169160
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa... OMIM:616050
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Sengers Syndrome
Thrombocytopenia OMIM:212350
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:54057
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Increased circulating antibody level ORPHA:99965
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatosplenomegaly, In... OMIM:260920
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... OMIM:304790
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Candidiasis, Familial, 2
Increased circulating IgE level, Hypereosinophilia OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Abnormal immunoglobulin l... ORPHA:276
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na... ORPHA:540
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... ORPHA:101096
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia, Opisthotonus OMIM:250800
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:101028
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Insulin-Resistance Syndrome Type B
Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Decreased lymphocyte prolif... OMIM:606367
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia ORPHA:83313
Babesiosis
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:108
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Splenomegaly, Increased circulating antibody level, Lymphopenia, Hypertriglyceridemia, Th... OMIM:617591
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Anemia, Thrombocytopenia, Leukopenia ORPHA:27
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Head titubation, Hypochromic microcytic anemia, Vestibular areflexia ORPHA:3240
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6, Increased circulating IgA level, Increased circulating inter... OMIM:256040
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Isolated Agammaglobulinemia
Thrombocytopenia, Abnormal lymphocyte morphology, Anemia, Abnormality of neutrophils ORPHA:229717
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Tularemia
Leukocytosis, Increased circulating antibody level, Anemia, Thrombocytopenia ORPHA:3392
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia OMIM:249270
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Drug-Induced Lupus Erythematosus
Decreased serum complement C4, Thrombocytopenia, Anemia, Decreased serum complement C3 ORPHA:231111
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia OMIM:607676
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Intermittent thrombocytopenia, Splenomegaly OMIM:150550
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgM level, Increased cir... ORPHA:79078
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Splenomegaly, Thro... ORPHA:381
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly, Bone marrow hypocellularity ORPHA:210136
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopen... ORPHA:100026
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Tremor, Reticulocytosis, Thrombocytopenia OMIM:274150
Preeclampsia
Thrombocytopenia ORPHA:275555
Osteopetrosis, Autosomal Recessive 2
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia OMIM:259710
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Stormorken Syndrome
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia OMIM:185070
Wolfram Syndrome 1
Tremor, Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia OMIM:222300
Immunodeficiency 47
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... OMIM:300972
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Lysosomal Acid Lipase Deficiency
Leukopenia, Bone-marrow foam cells, Anemia, Splenomegaly, Hypercholesterolemia, Hypersplenism, He... OMIM:278000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal cytokine signaling, Anemia, Splenomegaly, Hypertriglyceridemia, Abnormal T ... ORPHA:158048
Ataxia-Telangiectasia
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... OMIM:208900
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Prolidase Deficiency
Thrombocytopenia, Increased circulating antibody level, Anemia, Splenomegaly OMIM:170100
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Myeloma, Multiple
Paraproteinemia OMIM:254500
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Agammaglobulinemia, Neutropenia ORPHA:47
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Lymphopenia, Thro... OMIM:242900
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Neutropenia OMIM:614857
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Increased circulating interleukin 6, Anemia ORPHA:160
Good Syndrome
Thrombocytopenia, Decreased circulating antibody level, Anemia, Abnormal leukocyte morphology ORPHA:169105
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal serum interferon-gamma level, Hepatosplenomegaly, Panhypogammaglobulinemia, Decr... ORPHA:79124
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Methylmalonic Aciduria, Cbla Type
Neutropenia, Anemia, Tremor, Pancytopenia, Thrombocytopenia OMIM:251100
Diffuse Alveolar Hemorrhage
Leukocytosis, Decreased serum complement C4, Anemia, Decreased serum complement C3, Thrombocytopenia ORPHA:90060
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:614520
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Lig4 Syndrome
Pancytopenia, Thrombocytopenia OMIM:606593
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Reduced natural killer cell activity, Anemia, Splenomegaly, Hepatosplenomegaly, Hyper... OMIM:603553
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia OMIM:611209
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level ORPHA:217390
Cog4-Cdg
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Subacute Inflammatory Demyelinating Polyneuropathy
Tremor, Leukocytosis, Increased circulating IgG level ORPHA:206594
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Increased circulating antibody level, Pancytopen... ORPHA:77259
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly ORPHA:85212
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Splenomegaly, Pa... OMIM:614576
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Impaired T cell function,... ORPHA:1830
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia OMIM:187900
Felty Syndrome
Neutropenia, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocellularity, Splenomegaly, T... ORPHA:47612
Ebola Hemorrhagic Fever
Thrombocytopenia, Increased circulating antibody level, Lymphopenia, Leukopenia ORPHA:319218
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Gaucher Disease, Type I
Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Osteopetrosis, Autosomal Recessive 5
Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thr... OMIM:259720
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Anemia, Leukopenia OMIM:613845
Alg12-Cdg
B lymphocytopenia, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Anemia, Splenomegaly, Hypertriglyceridemia, Thrombocytopenia, Hemophagocytosis OMIM:267700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Steatorrhea, Pancytopen... OMIM:260400
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly... OMIM:610377
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Reduced natural killer cell activity, Absent plate... OMIM:608233
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Transaldolase Deficiency
Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:606003
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia ORPHA:292
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Decreased circulating IgA level, Steat... OMIM:212750
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Decreased... OMIM:612301
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Increased circulating... OMIM:617303
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:212065
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Congenital thrombocytopenia OMIM:618886
Postinfectious Vasculitis
Increased circulating IgA level, Increased circulating antibody level, Abnormality of humoral imm... ORPHA:48435
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Leukopenia OMIM:251000
Hepatoportal Sclerosis
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia ORPHA:64743
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Ret... ORPHA:508542
Bloom Syndrome
Leukemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating... OMIM:210900
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Tangier Disease
Hypocholesterolemia, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia ORPHA:31150
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Abnormal leukocyte morphology ORPHA:3322
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277380
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Wilson Disease
Thrombocytopenia, Anemia, Splenomegaly ORPHA:905
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal platelet functio... ORPHA:167
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Dengue Fever
Thrombocytopenia, Leukopenia ORPHA:99828
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Decreased serum complement C4, Lymphopenia, Decrea... ORPHA:93552
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613990
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia, Steatorrhea OMIM:617941
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Cyclic Neutropenia
Thrombocytopenia, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia ORPHA:2686
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splenomegaly OMIM:613385
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Secondary Intestinal Lymphangiectasia
Hypocholesterolemia, Decreased circulating IgA level, Decreased circulating antibody level, Decre... ORPHA:90363
Pediatric-Onset Graves Disease
Tremor, Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thro... OMIM:227645
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Immunodeficiency 23
Neutropenia, Increased circulating IgG level, Increased circulating IgE level, Increased circulat... OMIM:615816
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Thrombocytopenia, Abnormality of serum cytokine level, Microang... ORPHA:464343
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Hypertriglyceridemia, Splenomegaly OMIM:613327
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, T... ORPHA:297
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3 ORPHA:329918
Gaucher Disease Type 3
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia ORPHA:77261
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia ORPHA:391673
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Caffey Disease
Increased circulating antibody level ORPHA:1310
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:603467
Gaucher Disease, Perinatal Lethal
Opisthotonus, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:608013
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Increased circulating IgE level ORPHA:2902
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Mirage Syndrome
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Dysfunctional alternative comple... ORPHA:90038
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Rift Valley Fever
Thrombocytopenia, Increased circulating IgM level, Anemia, Increased circulating IgG level ORPHA:319251
Sepsis In Premature Infants
Leukocytosis, Increased circulating interleukin 6, Neutropenia, Anemia, Splenomegaly, Thrombocyto... ORPHA:90051
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Nijmegen Breakage Syndrome
B lymphocytopenia, Dysgammaglobulinemia, Thrombocytopenia, T lymphocytopenia, Autoimmune hemolyti... OMIM:251260
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:224230
Q Fever
Cryoglobulinemia, Anemia, Splenomegaly, Hepatosplenomegaly, Increased circulating antibody level,... ORPHA:781
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatosplenomeg... ORPHA:505248
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Tremor, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:612199
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level OMIM:208910
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hellp Syndrome
Thrombocytopenia, Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular... ORPHA:244242
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Leukopenia OMIM:301056
Lysinuric Protein Intolerance
Leukopenia, Decreased circulating antibody level, Anemia, Hypercholesterolemia, Complement defici... ORPHA:470
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Overlap Myositis