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
increased IgA level Ephx1Ephx1 HOM Early adult 1.04×10-05
increased mean corpuscular volume Ephx1Ephx1 HOM Early adult 5.24×10-05
thrombocytopenia Ephx1Ephx1 HOM Early adult 6.36×10-09
decreased circulating triglyceride level Ephx1Ephx1 HOM Early adult 6.65×10-06
decreased erythrocyte cell number Ephx1Ephx1 HOM Early adult 7.23×10-06
increased circulating potassium level Ephx1Ephx1 HOM   Early adult 6.77×10-05
increased startle reflex Ephx1Ephx1 HOM   Early adult 6.20×10-12

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 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
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia, Hand tremor OMIM:609153
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:603909
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... ORPHA:169154
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... ORPHA:2134
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... OMIM:612783
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hypochromia, Po... OMIM:615234
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Intention tremor OMIM:610539
Malaria
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:673
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Increased circulating Interferon-alpha concentration, Thrombocytopenia, Dys... OMIM:615010
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... OMIM:308240
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, El... OMIM:617388
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Increased circulating IgA level, Elevated circulating C-reactive protein... OMIM:615934
Pontocerebellar Hypoplasia, Type 15
Anemia, Dystonia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat... OMIM:620603
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Increased circulating IgE level, Reduced circulating C-reactive ... OMIM:618944
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Aicardi-Goutieres Syndrome 3
Dystonia, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease... OMIM:619802
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Pontocerebellar Hypoplasia, Type 14
Dystonia, Chronic neutropenia, Thrombocytopenia OMIM:619301
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Increased circulating IgA level, Ane... ORPHA:29073
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Tremor, Decreased serum cre... OMIM:617744
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenom... OMIM:620565
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Athetosis OMIM:229050
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Increased... ORPHA:443811
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... OMIM:212050
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... OMIM:210250
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinoph... OMIM:226990
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... OMIM:127550
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Shwachman-Diamond Syndrome
Normocytic anemia, Bone marrow hypocellularity, Hypoamylasemia, Aplastic anemia, Increased mean c... ORPHA:811
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... OMIM:301000
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Decreased circulating complement C3 concentration, Decreased circulating... OMIM:301080
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increase... OMIM:209950
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Osteopetrosis, Autosomal Recessive 9
Anemia, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis ORPHA:289916
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase... ORPHA:507
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... OMIM:275350
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level ORPHA:555905
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level ORPHA:100024
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Microangiopathic hemolytic anemia, Eleva... OMIM:235400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis ORPHA:79312
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... OMIM:616100
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia, Choreoathetosis ORPHA:27
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556030
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Corticosteroid-Binding Globulin Deficiency
Anemia, Decreased circulating cortisol level, Reduced circulating cortisol-binding globulin conce... OMIM:611489
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Lymphopenia, Decreased circulat... ORPHA:90362
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... OMIM:617443
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Dystonia OMIM:610333
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Decreased circulating complement factor B concentration, Hypotriglyceridemia, Ab... ORPHA:2298
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Decreased circulating complement C4 concentra... ORPHA:231111
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c... ORPHA:540
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Increased circulating IgE lev... OMIM:619752
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Head titubation, Thrombocytopenia, Hypochromic micr... ORPHA:3240
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:436159
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Increased c... ORPHA:186
Mirage Syndrome
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen OMIM:617053
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:169160
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, ... ORPHA:94093
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosi... OMIM:618278
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po... OMIM:304790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin... ORPHA:210136
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, In... OMIM:260920
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia OMIM:614736
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Atelis Syndrome 1
Anemia, Leukopenia, Thrombocytopenia, Decreased lymphocyte proliferation in response to anti-CD3 OMIM:620184
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho... ORPHA:277
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... OMIM:256040
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Thrombocytopenia OMIM:612952
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut... OMIM:614700
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor, Increased circulating antibody level ORPHA:99965
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
Boutonneuse Fever
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Hypertriglycer... OMIM:617591
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:102700
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis OMIM:611490
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Decreased circulating complement C4 ... ORPHA:90060
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Hyperkalemia, Glucocortocoid-insensitive primary... ORPHA:171876
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Tularemia
Anemia, Leukocytosis, Thrombocytopenia, Increased circulating antibody level ORPHA:3392
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hemolytic anemia OMIM:608885
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Griscelli Syndrome
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, ... ORPHA:381
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
X-Linked Agammaglobulinemia
Hypocalcemia, Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia ORPHA:47
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Propionic Acidemia
Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Dystonia OMIM:606054
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomeg... OMIM:278000
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hype... OMIM:613280
Castleman Disease
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:160
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor OMIM:250800
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Renal Hypoplasia, Bilateral
Anemia, Hyperkalemia, Hyponatremia ORPHA:97362
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci... ORPHA:79078
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Th... OMIM:614857
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia OMIM:613987
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia, Increased circulating antibody level OMIM:170100
Cog4-Cdg
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:3226
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Birk-Landau-Perez Syndrome
Dystonia, Increased circulating creatine kinase MB isoform, Hyperkalemia, Choreoathetosis OMIM:617595
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hyperglycinemia, Hyperammonemia, Tremor, Thrombocytopenia, Neutropenia, Anemia, Met... OMIM:251100
Tafro Syndrome
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly... ORPHA:457077
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... OMIM:601399
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Methylmalonic Aciduria, Cblb Type
Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Hyperammone... OMIM:251110
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Hyponatremia, Hypercholesterolemia,... ORPHA:275761
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Fetal Cytomegalovirus Syndrome
Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia ORPHA:294
Acute Adrenal Insufficiency
Normocytic anemia, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemi... ORPHA:95409
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level ORPHA:90280
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ... OMIM:242860
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Tremor, Dystonia, Athetosis, Thrombocytopenia OMIM:617710
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Mogs-Cdg
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Thrombocyto... ORPHA:79330
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Decreased circula... OMIM:612301
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Thrombo... OMIM:212750
Congenital Rubella Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:290
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Alg12-Cdg
Hypoalbuminemia, Abnormal circulating IgM level, Hypocholesterolemia, Complete or near-complete a... ORPHA:79324
Wolfram Syndrome 1
Sideroblastic anemia, Tremor, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Action tremor, Thrombocytopenia, Intention tremor, Normochromic... OMIM:254900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated circulating creatine kinase ... OMIM:610377
Postinfectious Vasculitis
Abnormality of humoral immunity, Elevated haptoglobin level, Increased circulating antibody level... ORPHA:48435
Good Syndrome
Anemia, Decreased circulating antibody level, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... OMIM:614576
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Elevated circulating creatinine concentration, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... OMIM:619644
Activated Pi3K-Delta Syndrome
Decreased circulating antibody level, Increased circulating IgM level, Splenomegaly, B lymphocyto... ORPHA:397596
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Sengers Syndrome
Thrombocytopenia OMIM:212350
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis, Choreoathetosis, Tremor ORPHA:206594
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration OMIM:618886
Myeloma, Multiple
Paraproteinemia OMIM:254500
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Increased circulating ferritin concentratio... ORPHA:77259
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro... ORPHA:292
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocy... ORPHA:544482
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Decreased circulating IgA level OMIM:618282
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Decreased circulat... ORPHA:275
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... ORPHA:1830
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Hypocholesterolemia, Decreased circulating IgA ... OMIM:212065
Dyskeratosis Congenita, Digenic
Anemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating t... OMIM:620040
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Abnormal dense gra... OMIM:214500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ... ORPHA:470
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Immunodeficiency 40
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombocytopenia OMIM:616433
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Methylmalonic acidemia OMIM:251000
Addison Disease
Normocytic anemia, Thiamine-responsive megaloblastic anemia, Hyperuricemia, Hyponatremia, Decreas... ORPHA:85138
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG1 level, Secondary hyperaldosteronism, Reduced circulat... ORPHA:90363
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia OMIM:259700
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level ORPHA:319218
Von Willebrand Disease
Microcytic anemia, Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia ORPHA:903
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto... OMIM:242900
Rasmussen Subacute Encephalitis
Hemidystonia, Decreased circulating total IgA ORPHA:1929
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Megaloblas... OMIM:277380
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:49566
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections