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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... OMIM:619632
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Increased circulating IgA level, Decreased proportion... OMIM:618048
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia 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
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 1
Abnormal circulating IgM level, Hemolytic anemia, Decreased T cell activation, Decreased circulat... OMIM:308230
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... OMIM:613101
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
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
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... OMIM:615285
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613502
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia OMIM:133180
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... OMIM:313900
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytope... OMIM:608898
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia OMIM:247800
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... OMIM:607271
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Intention tremor, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... OMIM:277410
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... OMIM:603552
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia ORPHA:673
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc... OMIM:301082
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... OMIM:300400
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... OMIM:308240
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:617765
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... ORPHA:300298
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... OMIM:614470
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Thrombocytopenia, Dystonia, Splenomegaly OMIM:615010
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... OMIM:611590
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... OMIM:612692
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Increased circulating IgA level, Elevated circula... OMIM:617388
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Hyperkalemia OMIM:609153
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased pro... OMIM:618944
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Dystonia, Anemia OMIM:619302
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Thrombocytosis, Increased circulating IgA level, Elevated circul... OMIM:615934
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... ORPHA:2442
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Fanconi Anemia, Complementation Group V
Anemia, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocellularity, Thromb... OMIM:617243
Methylcobalamin Deficiency Type Cble
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul... ORPHA:2169
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Ele... OMIM:617099
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Dystonia, Hepatosplenomegaly OMIM:610329
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... OMIM:613011
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Dystonia OMIM:619301
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... OMIM:609628
Folate Malabsorption, Hereditary
Leukopenia, Neutropenia, Thrombocytopenia, Athetosis, Folate-responsive megaloblastic anemia OMIM:229050
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... OMIM:610600
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Multiple Myeloma
Anemia, Decreased circulating antibody level, Increased circulating IgA level, Hypercalcemia, Ele... ORPHA:29073
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... ORPHA:3261
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, ... OMIM:127550
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... ORPHA:811
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... OMIM:210250
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Tremor, De... OMIM:617744
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida... OMIM:226990
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte prolife... ORPHA:331206
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Reduced natural killer cell activity, Pancytopenia, In... OMIM:616050
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... OMIM:300291
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... OMIM:618394
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... OMIM:301000
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... ORPHA:507
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... OMIM:616959
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Choreoathetosis, Hyperammonemia, Thrombocytopenia, Neutropenia, Dystonia ORPHA:289916
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Increased circulating IgM level, Histio... OMIM:209950
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Systemic Lupus Erythematosus 17
Leukopenia, Decreased circulating complement C3 concentration, Lymphopenia, Autoimmune thrombocyt... OMIM:301080
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating interleuk... ORPHA:158061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Decreased circulating complement C3 conc... OMIM:235400
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant ... OMIM:231200
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level, Eosinophilia ORPHA:555905
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... OMIM:616100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Choreoathetosis, Hyperammonemia, Thrombocytopenia, Neutropenia, Dystonia, Splenomegaly ORPHA:79312
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Decreased... OMIM:275350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic anemia, Inc... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic anemia, Inc... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic anemia, Inc... OMIM:612926
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... ORPHA:556037
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... OMIM:619510
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased circulating complement C3 concentration, Absent isohemagglutini... OMIM:615559
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... ORPHA:848
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Choreoathetosis, Hyperammonemia, Macrocytic anemia, Thrombocytopenia ORPHA:27
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... OMIM:615758
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutami... ORPHA:101028
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... ORPHA:90362
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia OMIM:194350
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Partial absence of specific antibody r... OMIM:240500
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:614069
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... ORPHA:556030
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis ORPHA:54057
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic anemia, Inc... OMIM:612925
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis OMIM:300367
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Dystonia, Splenomegaly OMIM:610333
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... OMIM:617241
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... ORPHA:231222
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Monoclonal elevation of IgG,... ORPHA:91139
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Insulin-Resistance Syndrome Type B
Leukopenia, Decreased circulating complement factor B concentration, Abnormal circulating lipid c... ORPHA:2298
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
Drug-Induced Lupus Erythematosus
Anemia, Decreased circulating complement C3 concentration, Elevated circulating creatine kinase c... ORPHA:231111
Sengers Syndrome
Thrombocytopenia OMIM:212350
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Reduced natural ... ORPHA:540
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... OMIM:601399
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia, Decreased circulating cortisol level OMIM:611489
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... OMIM:267700
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Lymphopenia, Decreased circul... OMIM:619752
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... OMIM:618278
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:243500
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:300861
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Reduced natural killer cell activity, Pancytopenia... OMIM:603553
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr... OMIM:613845
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Increased circulating IgA leve... OMIM:260920
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:199296
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Increased circulating ferritin concentration, Head titubation, Ves... ORPHA:3240
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Bone marrow hypocellularity, Th... OMIM:301078
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Mirage Syndrome
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen OMIM:617053
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hypocalcemia, Hyperkalemia, Elevated circula... ORPHA:94093
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Increased circulating... ORPHA:277
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia OMIM:614736
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... OMIM:304790
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase... OMIM:256040
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... OMIM:187900
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia... OMIM:617591
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... ORPHA:276
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Bone marrow hypocellularity, Hepa... ORPHA:210136
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Osteopetrosis, Autosomal Recessive 4
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis OMIM:611490
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... OMIM:102700
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... ORPHA:90045
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Splenomegaly, Leukocytosis ORPHA:37748
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... OMIM:614700
Babesiosis
Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hypertriglycerid... ORPHA:158048
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... ORPHA:231214
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Increased circulating IgA level, Increased circulating ... ORPHA:186
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Boutonneuse Fever
Leukopenia, Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Abnor... ORPHA:381
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:606367
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcem... ORPHA:199299
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Immunodeficiency 47
Leukopenia, Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased c... OMIM:300972
Methylmalonic Aciduria, Cbla Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Thrombocyt... OMIM:251100
Tularemia
Increased circulating antibody level, Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... OMIM:278000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating antibody level, Decreased circulating cortisol level, Hyperkalemia, Autoimm... ORPHA:293978
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... ORPHA:171876
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Agammaglobulinemia, Thrombocytopenia, Neutropenia ORPHA:47
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Propionic Acidemia
Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Neutropenia, Dystonia OMIM:606054
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... OMIM:139090
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... ORPHA:824
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Castleman Disease
Anemia, Increased circulating interleukin 6 concentration, Decreased mean corpuscular volume, Ele... ORPHA:160
Tempi Syndrome
Increased hematocrit, Increased circulating IgG level, Polycythemia ORPHA:284227
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... ORPHA:91547
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycy... OMIM:613280
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Tremor, Eosinophilia ORPHA:99965
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Hemolytic anemia, Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:608885
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Specific Granule Deficiency 2
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia OMIM:617475
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... OMIM:614857
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Increased circulating IgG4 level, Increased circulating IgA level, Increased ci... ORPHA:79078
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Diffuse Alveolar Hemorrhage
Anemia, Decreased circulating complement C3 concentration, Decreased circulating complement C4 co... ORPHA:90060
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomegaly OMIM:150550
Renal Hypoplasia, Bilateral
Anemia, Hyperkalemia, Hyponatremia ORPHA:97362
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Choreoathetosis, Acute lymphoblastic leukemia, Decre... OMIM:208900
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Myh9-Related Disease
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... ORPHA:182050
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,... ORPHA:100026
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... ORPHA:98850
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproliferative disorder... ORPHA:3226
Cog4-Cdg
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... OMIM:603554
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly OMIM:618495
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Methylmalonic Aciduria, Cblb Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... OMIM:251110
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Choreoathetosis, Dystonia, Hyperkalemia OMIM:617595
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Elevat... ORPHA:449400
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Wolfram Syndrome 1
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Tremor OMIM:222300
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... ORPHA:35078
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Bone-... ORPHA:275761
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Anemia OMIM:170100
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... OMIM:185070
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating antibody level, Hepatosplenomegaly, Decrea... ORPHA:79330
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia, Increased ... OMIM:242860
Congenital Rubella Syndrome
Thrombocytopenia, Splenomegaly, Anemia ORPHA:290
Acute Adrenal Insufficiency
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Increased c... ORPHA:95409
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Neutropenia OMIM:251000
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating total IgM, Decreased circulating IgA level, Hypocalcemic seizures, ... OMIM:612301
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia OMIM:607676
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia, Athetosis, Dystonia, Tremor OMIM:617710
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell function, Throm... OMIM:614576
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly ORPHA:398124
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Thrombocytopenia, Intention tremor, Normochromic anemia, Hypoalbu... OMIM:254900
Subacute Inflammatory Demyelinating Polyneuropathy
Tremor, Choreoathetosis, Increased circulating IgG level, Leukocytosis ORPHA:206594
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Dysfunctional alternative com... ORPHA:90038
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... OMIM:619644
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Pancytop... ORPHA:79124
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia OMIM:614520
Mevalonic Aciduria
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Elevated circulating creatine kinase... OMIM:610377
Alg12-Cdg
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Celiac Disease, Susceptibility To, 1
Steatorrhea, Decreased circulating IgA level, Thrombocytosis, Macrocytic anemia, Iron deficiency ... OMIM:212750
Pseudo-Torch Syndrome 3
Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration, Leukocytosis OMIM:618886
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Postinfectious Vasculitis
Increased circulating antibody level, Elevated haptoglobin level, Cryoglobulinemia, Increased cir... ORPHA:48435
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... ORPHA:292
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly OMIM:246400
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Good Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology, Decreased circulating antibody level ORPHA:169105
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgG lev... OMIM:243700
Chediak-Higashi Syndrome
Leukopenia, Anemia, Giant neutrophil granules, Tremor, Hemophagocytosis, Impaired neutrophil bact... OMIM:214500
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:259710
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Fetal Gaucher Disease
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:85212
Osteopetrosis, Autosomal Recessive 1
Anemia, Hypocalcemia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:259700
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia OMIM:618282
Myeloma, Multiple
Paraproteinemia OMIM:254500
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Schimke Immuno-Osseous Dysplasia
Anemia, Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Bone marrow hypoce... ORPHA:1830
Dyskeratosis Congenita, Digenic
Anemia, Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating I... OMIM:620040
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Hemolytic ... ORPHA:544482
Liddle Syndrome 3
Hypokalemia OMIM:618126
Gaucher Disease Type 1
Leukopenia, Anemia, Increased circulating antibody level, Hypersplenism, Pancytopenia, Thrombocyt... ORPHA:77259
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent platelet dense granules OMIM:614074
Lysinuric Protein Intolerance
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Abnormality of humoral immunity, Incr... ORPHA:470
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Tremor, Decreased circulating IgA level, Thrombocytosis, Hypocholesterolemia, Hypoal... OMIM:212065
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Decreased circulating antibody level, Lymphopenia, Pancytopen... OMIM:242900
Chédiak-Higashi Syndrome
Anemia, Hypertriglyceridemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatospleno... ORPHA:167
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Panc... OMIM:277380
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hyponatremia ORPHA:83601
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia ORPHA:79242
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Addison Disease
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Increased c... ORPHA:85138
Immunodeficiency 40
Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lymphocytopenia OMIM:616433
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Rasmussen Subacute Encephalitis
Decreased circulating total IgA, Hemidystonia ORPHA:1929
Felty Syndrome
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lympho... ORPHA:47612
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Decreased circulating total IgM, Decreased circulating antibody level... ORPHA:90363
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Ebola Hemorrhagic Fever
Increased circulating antibody level, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... ORPHA:221139
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:230800
Alg8-Cdg
Thrombocytopenia, Anemia, Hyponatremia ORPHA:79325
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Thrombocytopeni... OMIM:617303
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Anemia ORPHA:3322
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Eisenmenger Syndrome
Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide concentration, ... ORPHA:97214
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... OMIM:619743
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Tangier Disease
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia ORPHA:31150
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia, Elevated hepatic iron concentration OMIM:614946
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase