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Gene: Fbxo36 MGI:1289192

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Gene Summary

Name:
F-box protein 36
Synonyms:
1110020F21Rik,  2410002G19Rik,  0610008D19Rik,  D1Ertd757e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean platelet volume Fbxo36tm1b(KOMP)Wtsi HOM Early adult 2.75×10-11
increased mean corpuscular hemoglobin concentration Fbxo36tm1b(KOMP)Wtsi HOM Early adult 7.56×10-14
decreased hematocrit Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.28×10-09
decreased mean corpuscular volume Fbxo36tm1b(KOMP)Wtsi HOM Early adult 4.54×10-29
increased neutrophil cell number Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.94×10-05
thick ventricular wall Fbxo36tm1b(KOMP)Wtsi HOM Early adult 4.85×10-07
thrombocytopenia Fbxo36tm1b(KOMP)Wtsi HOM Early adult 4.54×10-08
increased red blood cell distribution width Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.97×10-05
increased basophil cell number Fbxo36tm1b(KOMP)Wtsi HOM Early adult 2.73×10-06
decreased grip strength Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.39×10-05
decreased monocyte cell number Fbxo36tm1b(KOMP)Wtsi HOM   Early adult 3.40×10-07
abnormal heart left ventricle morphology Fbxo36tm1b(KOMP)Wtsi HOM Early adult 3.19×10-06

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 Fbxo36 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 Fbxo36 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
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
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... OMIM:258900
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen... OMIM:169400
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Malaria
Anemia, Thrombocytopenia ORPHA:673
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... OMIM:612561
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect, Thrombocytopenia, Anemia ORPHA:101028
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a... OMIM:249270
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Thrombocytopen... ORPHA:848
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Atrial septal defect, Thrombocytopenia, Ventricular septal defect ORPHA:49827
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:610539
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Pericarditis OMIM:152700
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Noonan Syndrome 12
Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Ventricular septal defect OMIM:618624
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Atelis Syndrome 1
Leukopenia, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia OMIM:620184
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Macrocytic anemia, Thrombocytopenia, Anemia ORPHA:27
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Pericarditis, Abnormal hemoglobin ORPHA:163596
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Congenital Toxoplasmosis
Anemia, Cardiomegaly, Thrombocytopenia ORPHA:858
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies OMIM:223350
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231226
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality of neutrophils, Recurrent c... ORPHA:229717
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Splenomegaly, N... ORPHA:398124
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia ORPHA:507
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis OMIM:611490
Hemochromatosis, Type 3
Anemia, Lymphopenia, Cardiomyopathy, Neutropenia OMIM:604250
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Congenital Rubella Syndrome
Splenomegaly, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia ORPHA:290
Pseudo-Torch Syndrome 3
Anemia, Cardiomegaly, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic... OMIM:612562
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia, Myocardial fibrosis ORPHA:210136
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:616050
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia OMIM:620603
Congenital Enterovirus Infection
Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Myocarditis, Neutropeni... ORPHA:292
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Drug-Induced Lupus Erythematosus
Anemia, Pericardial effusion, Thrombocytopenia, Pericarditis ORPHA:231111
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... ORPHA:274
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Atrial septal defect, Neutropenia OMIM:614857
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Gaucher Disease, Type I
Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Propionic Acidemia
Cardiomyopathy, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Abnormal cardiac septum morphology, Thrombocytopenia, Increased mean platelet ... OMIM:616737
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Tularemia
Brain abscess, Cutaneous abscess, Leukocytosis, Thrombocytopenia, Anemia ORPHA:3392
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Von Willebrand Disease
Abnormality of thrombocytes, Microcytic anemia, Abnormal mitral valve morphology, Thrombocytopeni... ORPHA:903
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Left ventricular hypertrophy, Giant platelets, Thrombocytopenia OMIM:611209
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythro... OMIM:612541
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Syndromic Diarrhea
Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, Splenomegaly, Ventricular septal def... ORPHA:84064
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Thrombocytopenia, Pericardial effusion, N... OMIM:618775
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ventricular septal defect, ... OMIM:606003
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Pericarditis ORPHA:47612
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia... OMIM:600901
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia ORPHA:90060
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropen... OMIM:260400
Wolfram Syndrome 1
Sideroblastic anemia, Cardiomyopathy, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia, Anemia, Pericarditis OMIM:615758
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F OMIM:619769
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Absent circulating B cells, Decreased proportion of class-switched m... OMIM:619705
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Perimembranous ventricular septal defect, Thrombocytopenia OMIM:608104
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia, Neutropenia, Anemia, ... OMIM:277380
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia... OMIM:227650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Noncompaction cardiomyopathy, Reticulocytopenia, B lymphocytopenia, Neut... ORPHA:508542
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:613845
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613989
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia ORPHA:47
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Abnormal heart morphology,... ORPHA:811
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Cardiomyopathy, Thrombocytopenia, Neutropenia OMIM:251000
Braddock-Carey Syndrome 1
Aortic valve prolapse, Thrombocytopenia, Ventricular septal defect OMIM:619980
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia ORPHA:54251
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:294
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia ORPHA:457077
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia OMIM:611126
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... OMIM:214500
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Splenomegaly, Ventricular septal defect, Thrombocytosis, Pulmonic stenosis, ... OMIM:222470
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Thrombocytopenia, Ventricular septal d... ORPHA:261250
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... OMIM:620565
Griscelli Syndrome
Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia ORPHA:381
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Hoyeraal-Hreidarsson Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia OMIM:170100
Hepatoportal Sclerosis
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:64743
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Necrotizing Enterocolitis
Abnormal heart morphology, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia... OMIM:227645
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Abnormal heart valve morphology, Coombs-positive hemolytic ane... ORPHA:464343
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Neutropenia, Anemia of inadequate production OMIM:614900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Thrombocytopenia, Increased m... ORPHA:487796
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Good Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:540
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro... OMIM:278000
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia OMIM:613990
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:267700
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Mitral v... ORPHA:77261
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Atrial septal defect, Thrombocytopenia, Ne... OMIM:617303
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Right ve... OMIM:208085
Overlap Myositis
Abnormal heart morphology, Leukopenia, Thrombocytopenia ORPHA:206572
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... OMIM:614700
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Ventricular septal defect, Atrial septal defect, Thrombocytopenia OMIM:614576
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Wilson Disease
Anemia, Splenomegaly, Thrombocytopenia ORPHA:905
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia OMIM:617591
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, Pericardial effusion ORPHA:93552
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A... OMIM:603553
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, P... OMIM:610733
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Thrombocytopenia OMIM:617397
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia OMIM:242900
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia OMIM:603467
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:259700
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Left ventricular hypertrophy, Thrombocytopenia, Anemia ORPHA:31150
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Pseudo-Torch Syndrome 1
Patent foramen ovale, Splenomegaly, Thrombocytopenia OMIM:251290
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Restrictive cardiomyopathy ORPHA:160
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Anemia, Secundum atrial septal defect, Thrombocytopenia OMIM:620072
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic ... OMIM:610377
Preeclampsia
Thrombocytopenia ORPHA:275555
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319218
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia OMIM:275350
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Ventricular septal defect, Double outlet right ventricle, Thrombocytopenia, Pulmonic ... OMIM:301056
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia OMIM:308230
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Beta-Thalassemia Major
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231214
Acyl-Coa Dehydrogenase 9 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia ORPHA:99901
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia, Ventricular septal defect OMIM:300514
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Lymphopenia, Pancytopenia, Leukopenia, Ventricular septal defect, Bicusp... OMIM:620654
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... OMIM:557000
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Lig4 Syndrome
Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia OMIM:606593
Adams-Oliver Syndrome
Tetralogy of Fallot, Leukopenia, Abnormal pulmonary valve morphology, Thrombocytopenia ORPHA:974
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Abnormal myocardium morphology, Neutropenia ORPHA:537
Q Fever
Granuloma, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, M... ORPHA:781
Stevens-Johnson Syndrome
Anemia, Abnormality of neutrophils, Abnormal myocardium morphology, Thrombocytopenia ORPHA:36426
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:90051
Gaucher Disease Type 1
Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, Sp... ORPHA:77259
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia, Pericardi... ORPHA:464329
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Abnormal cardiac septum morphology, Thrombocytopenia ORPHA:3320
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Avian Influenza
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:454836
Recon Progeroid Syndrome
Anemia, Thrombocytopenia OMIM:620370
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... ORPHA:244242
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia... OMIM:227646
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc... OMIM:259720
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Anemia, Pericarditis ORPHA:829
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Splenomegaly, Thrombocytopenia OMIM:225750
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Atelis Syndrome 2
Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia OMIM:620185
Down Syndrome
Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioventricular canal defect, ... ORPHA:870
Ivic Syndrome
Tetralogy of Fallot, Leukocytosis, Thrombocytopenia OMIM:147750
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Thrombocytopenia, Anemia OMIM:608013
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Gaucher Disease, Type Ii
Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile... ORPHA:3243
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Shigellosis
Microangiopathic hemolytic anemia, Leukocytosis, Abscess, Splenic abscess, Thrombocytopenia, Myoc... ORPHA:810
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia ORPHA:90038
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto... ORPHA:79330
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Atrial septal defect, Thrombocytopenia ORPHA:261323
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Leukopenia, Patent fo... ORPHA:505248
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Patent foramen ovale, B lymphocytop... ORPHA:391487
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia ORPHA:457351
Bacterial Toxic-Shock Syndrome
Abscess, Increased circulating myelocyte count, Thrombocytopenia, Myocarditis, Increased circulat... ORPHA:36234
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Neuroblastoma
Anemia, Thrombocytopenia ORPHA:635
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Atrioven... OMIM:619573
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophi... ORPHA:3260
Lathosterolosis
Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
Lujo Hemorrhagic Fever
Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Myocarditis ORPHA:319213
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Myocarditis, Anemia ORPHA:499009
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Thrombocytopenia OMIM:619743
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:222700
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia OMIM:617099
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Ventricular septal defect, Perimembranous ventricular septal defect, Hypochromic ... OMIM:301040
Brucellosis
Granuloma, Liver abscess, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormal aortic ... ORPHA:1304
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Thrombocytopenia ORPHA:572798
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Patent foramen ovale, Atrial septal defe... OMIM:620005
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Abnormal heart morphology, Megaloblastic anemia, Thrombocytopenia, Neutro... ORPHA:79282
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia OMIM:300972
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Myocarditis, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:50918
Gaisböck Syndrome
Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Farber Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:333
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Atrial septal defect, Thrombocytopenia, Ventricular septal defect ORPHA:163979
Bcard Syndrome
Thrombocytopenia OMIM:612394
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal heart morphology, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:464321
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... ORPHA:447
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Cardiomegaly, Thrombocyto... OMIM:620376
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Multiple Mitochondrial Dysfunctions Syndrome 7
Partial atrioventricular canal defect, Thrombocytopenia OMIM:620423
Fibular Hemimelia
Abnormal heart morphology, Thrombocytopenia ORPHA:93323
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Pancytopenia, Pericardial effusion, Splenomegaly, Thrombocytopenia, ... OMIM:615846
Porphyria, Congenital Erythropoietic
Reduced erythrocyte uroporphyrinogen III cosynthase activity, Hemolytic anemia, Splenomegaly, Thr... OMIM:263700
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia, Abnormal myocardium morphology ORPHA:297
Pearson Syndrome
Cardiomyopathy, Abnormal heart morphology, Pancytopenia, Reticulocytosis, Splenomegaly, Neutropen... ORPHA:699
Eisenmenger Syndrome
Bacterial endocarditis, Increased mean corpuscular volume, Brain abscess, Abnormal heart morpholo... ORPHA:97214
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Thrombocytop... ORPHA:79324
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Thrombocytopenia OMIM:612199
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Abscess, Neutrophilia OMIM:612852
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular... OMIM:274000
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Gaucher Disease
Splenic infarction, Aortic valve calcification, Abnormal pericardium morphology, Abnormal heart v... ORPHA:355
Caroli Syndrome
Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia, Liver abscess ORPHA:480520
Dyskeratosis Congenita
Anemia, Abnormality of neutrophils, Splenomegaly, Thrombocytopenia ORPHA:1775
Dubowitz Syndrome
Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia ORPHA:235
Jacobsen Syndrome
Atrial septal defect, Thrombocytopenia, Ventricular septal defect OMIM:147791
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Thrombocytopenia, Myocarditis, Hemolytic anemia ORPHA:544482
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia OMIM:251260
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos... ORPHA:56
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly... ORPHA:2072
Nijmegen Breakage Syndrome
Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia ORPHA:647
Lysinuric Protein Intolerance
Hemophagocytosis, Abnormal heart morphology, Leukopenia, Hepatosplenomegaly, Thrombocytopenia, An... ORPHA:470
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia ORPHA:2785
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Tetralogy of Fallot, Splenomegaly, Ventricular septal defect, Thrombocytopenia... OMIM:619525
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Pericarditis, Neutrophilia OMIM:249100
Fanconi Anemia
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Leukopenia, Abnormal aortic valve morphology, A... ORPHA:84
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:305000
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Ogden Syndrome
Secundum atrial septal defect, Polycythemia, Patent foramen ovale, Ventricular septal defect, Car... OMIM:300855
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia OMIM:301072
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... ORPHA:289390
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Anemia, Leukocytosis, Neutrophilia ORPHA:99843
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia ORPHA:2298
Cornelia De Lange Syndrome 1
Thrombocytopenia, Ventricular septal defect OMIM:122470
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Thrombocytopenia, Ventricular septal defect ORPHA:2308
Hemorrhagic Fever-Renal Syndrome
Anemia, Leukocytosis, Thrombocytopenia ORPHA:340
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia OMIM:260920
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal heart valve morphology, Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocyt... ORPHA:77293
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Myocarditis... ORPHA:99827
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent foramen ovale, Ventricular... OMIM:619991
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Splenomegaly, Patent foramen ovale, Ventricular septal defect,... OMIM:301068
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Splenomega... ORPHA:567
Wilson Disease
Anemia, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:277900
Yellow Fever
Leukocytosis, Thrombocytopenia, Neutrophilia ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Cardiomegaly, Splenomegaly, Thrombocytopenia OMIM:256040
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly... ORPHA:51
Digeorge Syndrome
Tetralogy of Fallot, Splenomegaly, Ventricular septal defect, Truncus arteriosus, Hypoplasia of t... OMIM:188400
Sarcoidosis
Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:797
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial ... OMIM:163950
Leptospirosis
Thrombocytopenia, Pericarditis ORPHA:509
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism ORPHA:731
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Osteogenesis Imperfecta
Abnormal endocardium morphology, Thrombocytopenia, Mitral valve prolapse ORPHA:666
Acute Liver Failure
Thrombocytopenia ORPHA:90062

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fbxo36

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fbxo36.

No publications found that use IMPC mice or data for Fbxo36.

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MGI Allele Allele Type Produced
Fbxo36tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fbxo36tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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