Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean platelet volume Fbxo36tm1b(KOMP)Wtsi HOM Early adult 2.75×10-11
thrombocytopenia Fbxo36tm1b(KOMP)Wtsi HOM Early adult 4.54×10-08
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
decreased grip strength Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.39×10-05
increased neutrophil cell number Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.94×10-05
increased red blood cell distribution width Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.97×10-05
decreased mean corpuscular volume Fbxo36tm1b(KOMP)Wtsi HOM Early adult 4.54×10-29
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
increased basophil cell number Fbxo36tm1b(KOMP)Wtsi HOM Early adult 2.73×10-06
thick ventricular wall Fbxo36tm1b(KOMP)Wtsi HOM Early adult 4.85×10-07

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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, Thrombocytopenia, Anemia, Eosinophilia, Myocardial eosinophilic infiltration OMIM:131400
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Orotic Aciduria
Hypochromia, Atrial septal defect, Ventricular septal defect, Folate-unresponsive megaloblastic a... OMIM:258900
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neu... OMIM:169400
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia, Ventricular septal defect OMIM:617021
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Malaria
Thrombocytopenia, Anemia ORPHA:673
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Cardiomegaly, Decreased ... OMIM:618278
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Atrial septal defect, Ventricular septal defect ORPHA:49827
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Sengers Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:212350
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin, Hypertrophic card... ORPHA:848
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine-responsive mega... OMIM:249270
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Cardiomyopathy ORPHA:67048
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia OMIM:152700
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Cardiomyopathy ORPHA:79312
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Neutropenia, Cor triatriatu... OMIM:612541
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Anemia, Leukopenia, Cardiomyopathy, Macrocytic anemia ORPHA:27
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Refractory anemia OMIM:231095
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Pericarditis, Anemia, Splenomegaly ORPHA:163596
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia OMIM:619151
Congenital Toxoplasmosis
Thrombocytopenia, Cardiomegaly, Anemia ORPHA:858
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Neonatal Lupus Erythematosus
Hemolytic anemia, Abnormal heart morphology, Neutropenia, Pancytopenia, Thrombocytopenia, Aplasti... ORPHA:398124
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Atrial septal defect, Neutropenia, Anemia OMIM:614857
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous... ORPHA:229717
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia ORPHA:507
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Hemochromatosis, Type 3
Lymphopenia, Cardiomyopathy, Neutropenia, Anemia OMIM:604250
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... OMIM:601399
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Babesiosis
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:108
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Impaired platelet ag... OMIM:173470
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Secundum atrial septal defect, Anemia OMIM:223350
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia OMIM:618886
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Isovaleric Acidemia
Thrombocytopenia, Pancytopenia, Leukopenia OMIM:243500
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Abnormal cardiac septum morphology, Anemia, Abnormal heart morphology OMIM:608104
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Pericardial effusion, Neutropenia, Thrombocytopenia... ORPHA:292
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Pericardial effusion, Pericarditis, Anemia ORPHA:231111
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean corpuscular... OMIM:612562
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Developmental And Epileptic Encephalopathy 66
Abnormal cardiac septum morphology, Neutropenia, Anemia OMIM:618067
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly, Myocardial fibrosis ORPHA:210136
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly OMIM:615846
Stormorken Syndrome
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia OMIM:185070
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Aortic valve stenosis, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Pulmonic stenosis, Abnormal cardiac septum morphology, Increased mean platelet ... OMIM:616737
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Pancytopenia, Thrombocytopenia, Anemia, Splenome... OMIM:606003
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Syndromic Diarrhea
Thrombocytosis, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Lymph... ORPHA:84064
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Thrombocytopenia, Normochromic anemia, Hypertrop... OMIM:618775
Tularemia
Cutaneous abscess, Leukocytosis, Thrombocytopenia, Anemia, Brain abscess ORPHA:3392
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Dilated cardiomyopathy OMIM:613989
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Anemia, Splenomegaly ORPHA:2785
Preeclampsia
Thrombocytopenia ORPHA:275555
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:47612
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Cardiomyopathy, Megaloblastic anemia OMIM:222300
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Propionic Acidemia
Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Cardiomyopathy OMIM:606054
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:319218
Thrombocythemia 3
Thrombocytosis OMIM:614521
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Cardiomyopathy, Leukopenia OMIM:251000
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Left ventricular hypertrophy, Anemia OMIM:611209
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:600901
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia OMIM:616577
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:227650
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:611126
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Anemia, Leukopenia OMIM:613845
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:520
Shwachman-Diamond Syndrome
Abnormal heart morphology, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Norm... ORPHA:811
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B ly... ORPHA:508542
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
Necrotizing Enterocolitis
Thrombocytopenia, Neutropenia, Abnormal heart morphology, Leukocytosis ORPHA:391673
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Episodic hemolytic anemia, Folate-responsive megaloblasti... OMIM:601775
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Thrombocytopenia, Splenomegaly, Leukopenia, Anemi... OMIM:278000
Gaucher Disease Type 1
Pericardial effusion, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hypersplenism, Leukop... ORPHA:77259
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Bleeding Disorder, Platelet-Type, 17
Thrombocytopenia, Abnormal thrombocyte morphology, Absence of alpha granules OMIM:187900
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Decreased ost... OMIM:259720
Marburg Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:99826
X-Linked Agammaglobulinemia
Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia, Anemia ORPHA:47
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Trichohepatoenteric Syndrome 1
Thrombocytosis, Ventricular septal defect, Increased mean platelet volume, Pulmonic stenosis, Tet... OMIM:222470
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277380
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia OMIM:242900
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular v... ORPHA:261250
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope... ORPHA:79277
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Crimean-Congo Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:99827
Griscelli Syndrome
Thrombocytopenia, Abnormality of neutrophils, Leukopenia, Splenomegaly ORPHA:381
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Anemia, Leukocytosis ORPHA:90060
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis OMIM:274150
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Acanthocytosis, Hepatosplenomegaly, Schistoc... OMIM:607330
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:227645
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Immunodeficiency 59 And Hypoglycemia
Thrombocytopenia, Hypochromic anemia, Granulocytopenia, Leukocytosis OMIM:233600
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Dengue Fever
Thrombocytopenia, Leukopenia ORPHA:99828
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis OMIM:235400
Gaucher Disease Type 3
Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, Pancytopenia, ... ORPHA:77261
Good Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Anemia ORPHA:169105
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Boutonneuse Fever
Thrombocytopenia, Leukopenia ORPHA:83313
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly OMIM:308230
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I... ORPHA:231222
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia, Hypertroph... OMIM:617303
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:540
Wilson Disease
Thrombocytopenia, Anemia, Splenomegaly ORPHA:905
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Anemia ORPHA:3322
Prolidase Deficiency
Thrombocytopenia, Anemia, Splenomegaly OMIM:170100
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Neutropenia, Normocytic anemia OMIM:617941
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia, Reduced natural killer ... OMIM:608233
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Abnormal myocardium morphology, Abnormal pericardium morphology, Leukocytosis ORPHA:340
Essential Thrombocythemia
Abnormal thrombocyte morphology, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Lymphopenia, Aplastic anemia, Anemia OMIM:127550
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Lymphopenia, Anemia, Splenomegaly OMIM:617591
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Abnormal heart valve morphol... ORPHA:464343
Tangier Disease
Coronary artery stenosis, Thrombocytopenia, Left ventricular hypertrophy, Anemia, Hepatosplenomegaly ORPHA:31150
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Pericardial effusion, Lymphopenia, Thrombocytopenia, Leukopenia ORPHA:93552
Noonan Syndrome 4
Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Pulmonic stenosis, Hypertrophi... OMIM:610733
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:614576
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Total anomalous pulmonary venous return, Increased mean platelet volume, Abnorm... ORPHA:487796
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Anemia, Leukopenia, Atrial septal defect OMIM:603467
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lassa Fever
Thrombocytopenia, Leukopenia ORPHA:99824
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia OMIM:267700
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatosplenomegaly, Cardiomyopathy, Splenomegaly OMIM:225750
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop... ORPHA:2330
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Mevalonic Aciduria
Leukocytosis, Thrombocytopenia, Anemia, Normocytic hypoplastic anemia, Hepatosplenomegaly, Fluctu... OMIM:610377
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia, Ventricular septal defect OMIM:300514
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia, Hepatosplenom... OMIM:603553
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Splenomegaly, Myocarditis, Neutrophilia ORPHA:829
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia OMIM:613990
Mirage Syndrome
Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen OMIM:617053
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:99901
Adams-Oliver Syndrome
Thrombocytopenia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Leukopenia ORPHA:974
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Vacuolate... ORPHA:167
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Thrombocytopenia, Pulmonic stenosis, Double outlet right ventricle, Le... OMIM:301056
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:3320
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Atrial septal defect, Ventricular se... OMIM:105650
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Kaposiform Lymphangiomatosis
Pericardial effusion, Abnormal spleen morphology, Thrombocytopenia, Anemia, Splenomegaly, Hepatos... ORPHA:464329
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:227646
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:608013
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:90051
Castleman Disease
Thrombocytopenia, Restrictive cardiomyopathy, Decreased mean corpuscular volume, Anemia ORPHA:160
Q Fever
Endocarditis, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Granuloma, Thr... ORPHA:781
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Ivic Syndrome
Thrombocytopenia, Tetralogy of Fallot, Leukocytosis OMIM:147750
Toxic Epidermal Necrolysis
Thrombocytopenia, Abnormal myocardium morphology, Neutropenia, Anemia ORPHA:537
Stevens-Johnson Syndrome
Thrombocytopenia, Abnormal myocardium morphology, Anemia, Abnormality of neutrophils ORPHA:36426
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly ORPHA:525731
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277400
Hellp Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular... ORPHA:244242
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Anemia,... ORPHA:3243
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Ventricular septal defect, Perimembranous ventricular septal defec... OMIM:301040
Shigellosis
Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Thrombocytopenia, Myocarditis, ... ORPHA:810
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Ventricular septal defect, Leukocytosis, Thrombocytopenia, Anemia, Tetralog... OMIM:274000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Abnormal heart morphology, Thrombocytopenia, Anemia, Leukopenia, Patent for... ORPHA:505248
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Thrombocytopenia, Schistocytosis ORPHA:90038
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Thrombocytopenia, Increased circulating myelocyte coun... ORPHA:36234
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Atrial septal defect, Anemia ORPHA:261323
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Lathosterolosis
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology ORPHA:46059
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia OMIM:222700
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Dilated cardiomyopathy, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neu... ORPHA:3260
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia, Cardiomyopathy ORPHA:572798
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, Atrial septal defect ORPHA:457351
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Abnormal heart morphology, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Dilated cardiomyo... ORPHA:79282
Nijmegen Breakage Syndrome
Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia OMIM:251260
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Atrial septal defect, Anemia, Ventricular septal defect ORPHA:163979
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Brucellosis
Lung abscess, Thrombocytosis, Endocarditis, Pericarditis, Leukocytosis, Granuloma, Abnormal aorti... ORPHA:1304
Fibular Hemimelia
Thrombocytopenia, Abnormal heart morphology ORPHA:93323
Tick-Borne Encephalitis
Thrombocytopenia, Abnormal myocardium morphology, Leukopenia, Leukocytosis ORPHA:297
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Pulmonic stenosis, Increased hematocrit, Tricuspid stenosis ORPHA:100076
Kikuchi-Fujimoto Disease
Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia, Myocarditis ORPHA:50918
Farber Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619005
Pearson Syndrome
Abnormal heart morphology, Reticulocytosis, Neutropenia, Thrombocytopenia, Pancytopenia, Anemia, ... ORPHA:699
Gaucher Disease
Abnormal heart valve morphology, Mitral valve calcification, Abnormal pericardium morphology, Pan... ORPHA:355
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Jacobsen Syndrome
Thrombocytopenia, Atrial septal defect, Ventricular septal defect OMIM:147791
Caroli Syndrome
Leukocytosis, Thrombocytopenia, Hypersplenism, Leukopenia, Liver abscess ORPHA:480520
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Aortic valve ca... ORPHA:2072
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Atrial septal defect, Abnormal heart morph... ORPHA:97214
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal heart morphology, Hypertrophic cardiomyopathy ORPHA:464321
Dubowitz Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils ORPHA:235