Gene Summary

Name:
bridging integrator 2
Synonyms:
N/A

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
increased mean platelet volume Bin2em1(IMPC)Wtsi HOM Early adult 2.83×10-12
absent pinna reflex Bin2em1(IMPC)Wtsi HOM   Early adult 7.38×10-05
decreased mean corpuscular hemoglobin Bin2em1(IMPC)Wtsi HOM Early adult 3.51×10-05
thrombocytopenia Bin2em1(IMPC)Wtsi HOM Early adult 6.64×10-06

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

Anti-nuclear antibody assay

Images

1 Images

Legacy Phenotype Associated Images

View all 40 images

Human diseases caused by Bin2 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 Bin2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Thrombocythemia 2
Thrombocytosis OMIM:601977
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Folate Malabsorption, Hereditary
Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia, Dystonia OMIM:610329
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619302
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Intention tremor, Action tremor, Postural tremor, Thrombocytopenia OMIM:254900
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Intention tremor, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Malaria
Anemia, Thrombocytopenia ORPHA:673
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619301
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia ORPHA:289916
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Aicardi-Goutieres Syndrome 4
Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Dystonia OMIM:610333
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Bone Marrow Failure Syndrome 4
Anemia, Thrombocytopenia, Leukopenia OMIM:618116
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia OMIM:616737
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Choreoathetosis, Anemia, Thrombocytopenia ORPHA:27
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Sengers Syndrome
Thrombocytopenia OMIM:212350
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Amed Syndrome, Digenic
Anemia, Thrombocytopenia, Acute myeloid leukemia, Leukopenia OMIM:619151
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Transaldolase Deficiency
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Lathosterolosis
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increased mean platelet ... OMIM:607330
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... OMIM:139090
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia OMIM:152700
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Vestibular areflexia, Hypochromic microcytic anemia, Head titubation ORPHA:3240
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Babesiosis
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:108
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia ORPHA:507
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly OMIM:222470
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis ORPHA:84064
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Thrombocytopenia, Abnormal lymphocyte morphology ORPHA:229717
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio OMIM:150550
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... ORPHA:100026
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Specific Granule Deficiency 2
Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Tremor, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:274150
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259710
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Preeclampsia
Thrombocytopenia ORPHA:275555
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Tremor, Thrombocytopenia OMIM:222300
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... ORPHA:86839
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Tremor, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... ORPHA:3226
Propionic Acidemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Dystonia OMIM:606054
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytopenia OMIM:614074
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Fetal Gaucher Disease
Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia ORPHA:85212
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Tremor, Thrombocytopenia, Dystonia, Athetosis OMIM:617710
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells OMIM:618048
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia OMIM:112200
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia OMIM:611209
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Gaucher Disease, Type I
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Thrombocytopenia, Leukopenia OMIM:613845
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:251110
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Pseudo-Torch Syndrome 3
Anemia, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Transaldolase Deficiency
Splenomegaly, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:606003
Griscelli Syndrome
Abnormality of neutrophils, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:381
Hepatoportal Sclerosis
Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hypersplenism ORPHA:64743
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
3-Methylglutaconic Aciduria, Type Viib
Opisthotonus, Leukopenia, Tremor, Choreoathetosis, Neutropenia, Thrombocytopenia, Dystonia OMIM:616271
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia ORPHA:47
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:47612
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia OMIM:277380
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Splenomegaly ORPHA:169090
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Osteopetrosis, Autosomal Recessive 1
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:259700
Prolidase Deficiency
Anemia, Thrombocytopenia, Splenomegaly OMIM:170100
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Bone-marrow foam cells, H... OMIM:278000
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Wilson Disease
Anemia, Thrombocytopenia, Splenomegaly ORPHA:905
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:3322
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Fanconi Anemia, Complementation Group E
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:600901
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Pseudo-Torch Syndrome 1
Thrombocytopenia, Dystonia, Splenomegaly OMIM:251290
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:169105
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc... OMIM:614700
Cyclic Neutropenia
Cyclic neutropenia, Thrombocytopenia, Lymphopenia, Decreased eosinophil count ORPHA:2686
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Impaired AD... OMIM:608233
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia OMIM:613989
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Thrombocytopenia, Aplastic anemia, Pancytopenia OMIM:613990
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia OMIM:127550
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Gaucher Disease Type 1
Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism ORPHA:77259
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Fanconi Anemia, Complementation Group A
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227650
Schimke Immunoosseous Dysplasia
Lymphopenia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Abnormal T cell morphology OMIM:242900
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Congenital Disorder Of Glycosylation, Type Iil
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:614576
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly OMIM:617591
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Tremor, Splenomegaly ORPHA:525731
Kasabach-Merritt Syndrome
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... ORPHA:2330
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia OMIM:267700
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Anemia... OMIM:610377
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Pancytope... OMIM:557000
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Thrombocytopenia, Limb dystonia, Athetosis ORPHA:572798
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Tremor, Anemia, Thrombocytopenia, Dystonia OMIM:612199
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Dystonia, Splenomegaly OMIM:225750
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... ORPHA:811
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia ORPHA:464343
Fanconi Anemia, Complementation Group C
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227645
Osteopetrosis, Autosomal Recessive 5
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypochromic microcy... OMIM:259720
Gaucher Disease, Perinatal Lethal
Opisthotonus, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:608013
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Tremor, Neutropenia OMIM:277400
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:308230
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Avian Influenza
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:454836
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... ORPHA:906
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia OMIM:208085
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Fanconi Anemia, Complementation Group F
Anemia, Thrombocytopenia, Leukopenia OMIM:603467
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, Limb dystonia ORPHA:457351
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:90038
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Anemia, Thrombocytopenia ORPHA:464329
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Thrombocytopenia OMIM:619743
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia ORPHA:160
Wilson Disease
Hand tremor, Splenomegaly, Hemolytic anemia, Tremor, Limb dystonia, Anemia, Thrombocytopenia, Dys... OMIM:277900
Lujo Hemorrhagic Fever
Lymphopenia, Resting tremor, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:319213
Mogs-Cdg
Hepatosplenomegaly, Thrombocytopenia, Dystonia ORPHA:79330
Farber Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:333
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia ORPHA:261323
Tangier Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:31150
Fanconi Anemia, Complementation Group D2
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227646
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis ORPHA:330015
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Gaucher Disease Type 3
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:77261
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Neuroleptic Malignant Syndrome
Leukocytosis, Oculogyric crisis, Tremor, Thrombocytosis, Thrombocytopenia ORPHA:94093
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:263700
Immunodeficiency 47
Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Thrombocytopenia OMIM:300972
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Lysinuric Protein Intolerance
Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia OMIM:222700
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia, A... ORPHA:447
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... OMIM:105650
Shigellosis
Splenic abscess, Microangiopathic hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:810
Aicardi-Goutieres Syndrome 7
Splenomegaly, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia, Dystonia OMIM:615846
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb... ORPHA:79277
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Postural tremor, Thrombocytopenia, Splenomegaly OMIM:301072
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia ORPHA:36234
Q Fever
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly ORPHA:781
Tick-Borne Encephalitis
Tremor, Leukopenia, Thrombocytopenia, Leukocytosis ORPHA:297
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly ORPHA:505248
Stevens-Johnson Syndrome
Abnormality of neutrophils, Anemia, Thrombocytopenia ORPHA:36426
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... ORPHA:3260
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Anemia, Thrombocytopenia OMIM:620005
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocytopenia ORPHA:2785
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia ORPHA:79324
Dubowitz Syndrome
Abnormality of neutrophils, Anemia, Acute lymphoblastic leukemia, Thrombocytopenia ORPHA:235
Nijmegen Breakage Syndrome
Hemolytic anemia, Acute leukemia, Thrombocytopenia, Autoimmune hemolytic anemia ORPHA:647
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Thrombocytopenia, Neutropenia ORPHA:79282
Hepatocellular Carcinoma
Polycythemia, Thrombocytosis, Anemia, Thrombocytopenia ORPHA:88673
Dyskeratosis Congenita
Abnormality of neutrophils, Anemia, Thrombocytopenia, Splenomegaly ORPHA:1775
Caroli Syndrome
Leukopenia, Thrombocytopenia, Leukocytosis, Hypersplenism ORPHA:480520
Pearson Syndrome
Neutropenia, Splenomegaly, Reticulocytosis, Hypoplastic spleen, Pancytopenia, Anemia, Thrombocyto... ORPHA:699
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia ORPHA:163979
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Thrombocytopenia, Hemolytic anemia, Decreased proportion of CD4-positive T cells, Au... OMIM:619573
Gaucher Disease
Splenomegaly, Tremor, Pancytopenia, Anemia, Thrombocytopenia ORPHA:355
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia ORPHA:2298
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Brucellosis
Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, Thrombocytopenia, Hypersplenism ORPHA:1304
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Kikuchi-Fujimoto Disease
Lymphocytosis, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:50918
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Dyskeratosis Congenita, X-Linked
Leukopenia, Pancytopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:305000
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Primary Sjögren Syndrome
Lymphopenia, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, ... ORPHA:289390
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Pancytopenia, Anemia, Thrombocytopenia ORPHA:2072
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Hemorrhagic Fever-Renal Syndrome
Anemia, Thrombocytopenia, Leukocytosis ORPHA:340
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:544482
Ogden Syndrome
Polycythemia, Thrombocytopenia, Torticollis, Iron deficiency anemia OMIM:300855
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Tremor, Chronic lymphatic leukemia, Dys... ORPHA:51
Fanconi Anemia
Anemia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia, Leukopenia ORPHA:84
Marburg Hemorrhagic Fever
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R... ORPHA:99826
Congenital Disorder Of Glycosylation, Type Iiw
Thrombocytopenia, Anemia, Microcytic anemia, Splenomegaly OMIM:619525
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:470
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly ORPHA:567
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Chronic Visceral Acid Sphingomyelinase Deficiency
Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopenia, Acute promyelocytic leukemia, Hypers... ORPHA:77293
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Pancytopenia, Thrombocytopenia ORPHA:99827
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Proteasome-Associated Autoinflammatory Syndrome 1
Thrombocytopenia, Microcytic anemia, Splenomegaly OMIM:256040
Hardikar Syndrome
Hepatosplenomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly OMIM:301068
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly ORPHA:731
Sarcoidosis
Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell count ORPHA:797
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Yellow Fever
Thrombocytopenia, Neutrophilia, Leukocytosis ORPHA:99829
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Liver Disease, Severe Congenital
Lymphocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia OMIM:619991
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Digeorge Syndrome
Hypoplasia of the thymus, Anemia, Thrombocytopenia, Splenomegaly OMIM:188400
Leptospirosis
Thrombocytopenia ORPHA:509
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950

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 Bin2

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 Bin2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Bin2em1(IMPC)Wtsi