Gene Summary

Name:
cytochrome P450, family 3, subfamily a, polypeptide 59
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
preweaning lethality, complete penetrance Cyp3a59em1(IMPC)Marc HOM   Early adult 0.00
decreased mean platelet volume Cyp3a59em1(IMPC)Marc HET Early adult 2.34×10-07
thrombocytopenia Cyp3a59em1(IMPC)Marc HET Early adult 4.62×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cyp3a59 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 Cyp3a59 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Thrombocythemia 2
Thrombocytosis OMIM:601977
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Thrombocythemia 3
Thrombocytosis OMIM:614521
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense granule content, Thrombocyt... OMIM:601399
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Malaria
Anemia, Thrombocytopenia ORPHA:673
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:613101
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Sengers Syndrome
Thrombocytopenia OMIM:212350
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Thrombocytopenia OMIM:613839
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly OMIM:610333
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopenia OMIM:150550
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Abnormality of thrombocytes OMIM:187900
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:507
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... ORPHA:824
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia ORPHA:158029
Babesiosis
Leukopenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:108
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly OMIM:615846
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:229717
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
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
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Specific Granule Deficiency 2
Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Thrombocytopenia, Splenomegaly ORPHA:79312
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Preeclampsia
Thrombocytopenia ORPHA:275555
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Lig4 Syndrome
Pancytopenia, Thrombocytopenia OMIM:606593
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Acute leukemi... ORPHA:3226
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Neonatal Lupus Erythematosus
Pancytopenia, Splenomegaly, Neutropenia, Anemia, Hemolytic anemia, Aplastic anemia, Thrombocytopenia ORPHA:398124
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Thrombocytopenia OMIM:614857
Refractory Anemia With Excess Blasts
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of inadequate prod... ORPHA:86839
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Anisopoikilocytosis, Increased mean platelet ... OMIM:607330
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Leukopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia OMIM:611209
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia of the thymus... OMIM:612541
Syndromic Diarrhea
Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Increased mean platelet volume ORPHA:84064
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Griscelli Syndrome
Abnormality of neutrophils, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:381
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Leukopenia, Thrombocytopenia OMIM:613845
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia OMIM:614520
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia OMIM:251000
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:274150
Propionic Acidemia
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:606054
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Impai... OMIM:214500
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:222300
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:606003
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Thrombocytopenia ORPHA:47
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:47612
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:235400
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:64743
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent pl... OMIM:608233
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277380
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Anemia, Thrombocytopenia, Splenomegaly OMIM:259700
Cyclic Neutropenia
Cyclic neutropenia, Lymphopenia, Thrombocytopenia, Decreased eosinophil count ORPHA:2686
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Hypersplenism, Thro... OMIM:278000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Prolidase Deficiency
Anemia, Thrombocytopenia, Splenomegaly OMIM:170100
Wilson Disease
Anemia, Thrombocytopenia, Splenomegaly ORPHA:905
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abno... ORPHA:79124
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:614576
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:600901
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158048
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227650
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:77259
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:169105
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia, Reticulocytopenia, Lymphopenia ORPHA:508542
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Thrombocytopenia, Aplastic anemia OMIM:613990
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Thrombocytopenia ORPHA:391673
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Anemia, Hypochromic microcytic anemia, Thrombocytopenia... OMIM:259720
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocyto... OMIM:603553
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:308230
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytop... ORPHA:2330
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:3322
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly OMIM:617591
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Anemia... OMIM:610377
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymphopenia, Decreased proportion ... ORPHA:1830
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227645
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... OMIM:557000
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Shwachman-Diamond Syndrome 2
Neutropenia, Thrombocytopenia, Normocytic anemia OMIM:617941
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Chédiak-Higashi Syndrome
Pancytopenia, Abnormal platelet function, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocy... ORPHA:167
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:225750
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal platelet function, Abnormal eosinophil morphology, ... ORPHA:906
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Thrombocytopenia OMIM:603467
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:608013
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Anemia, Thrombocytopenia ORPHA:464329
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:277400
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia ORPHA:160
Farber Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:333
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227646
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Zika Virus Disease
Thrombocytopenia ORPHA:448237
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia ORPHA:261323
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319213
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Thrombocytopenia, Increased circulating metamyelocyte count ORPHA:36234
Gaucher Disease Type 3
Pancytopenia, Anemia, Thrombocytopenia, Splenomegaly ORPHA:77261
Shigellosis
Microangiopathic hemolytic anemia, Leukocytosis, Thrombocytopenia, Splenic abscess ORPHA:810
Tangier Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:31150
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... OMIM:105650
Immunodeficiency 47
Leukopenia, Normocytic anemia, Accessory spleen, Splenomegaly, Thrombocytopenia OMIM:300972
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... ORPHA:391487
Mogs-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:79330
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:222700
Q Fever
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly ORPHA:781
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:505248
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Anemia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Abnor... ORPHA:447
Congenital Erythropoietic Porphyria
Leukopenia, Anisocytosis, Splenomegaly, Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis,... ORPHA:79277
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619005
Stevens-Johnson Syndrome
Abnormality of neutrophils, Anemia, Thrombocytopenia ORPHA:36426
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Thrombocytopenia OMIM:612199
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia ORPHA:79324
Toxic Epidermal Necrolysis
Neutropenia, Anemia, Thrombocytopenia ORPHA:537
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Anemia, Thrombocytopenia OMIM:274000
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Dubowitz Syndrome
Abnormality of neutrophils, Anemia, Thrombocytopenia, Acute lymphoblastic leukemia ORPHA:235
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Anemia, Elliptocytosis, Thrombocytopenia ORPHA:2785
Caroli Syndrome
Leukocytosis, Leukopenia, Hypersplenism, Thrombocytopenia ORPHA:480520
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:297
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Megaloblastic anemia, Thrombocytopenia ORPHA:79282
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia, Hemolytic anemia ORPHA:647
Hepatocellular Carcinoma
Thrombocytosis, Anemia, Thrombocytopenia, Polycythemia ORPHA:88673
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Splenomegaly, Neutropenia, Anemia, Reticulocytosis, Thrombocyto... ORPHA:699
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia ORPHA:163979
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia ORPHA:2298
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Thrombocytopenia, Hemolytic anemia, Decreas... OMIM:619573
Dyskeratosis Congenita
Abnormality of neutrophils, Anemia, Thrombocytopenia, Splenomegaly ORPHA:1775
Brucellosis
Leukopenia, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:1304
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Deeah Syndrome
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619004
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Acute myeloid leukemia, Anemia, Thrombocytopenia OMIM:305000
Primary Sjögren Syndrome
Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytope... ORPHA:289390
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Anemia, Abnormality of the spleen, Thrombocytopenia ORPHA:2072
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Neutropenia, Anemia, Lymphocytosis, Thrombocytopenia ORPHA:50918
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Fanconi Anemia
Anemia, Leukopenia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Hemorrhagic Fever-Renal Syndrome
Anemia, Thrombocytopenia, Leukocytosis ORPHA:340
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Leukopenia, Lymphopenia, Neutrophilia in presence of infection, R... ORPHA:99826
Gaucher Disease
Pancytopenia, Anemia, Thrombocytopenia, Splenomegaly ORPHA:355
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:567
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Anemia, Thrombocytopenia, Splenomegaly OMIM:619525
Lysinuric Protein Intolerance
Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Anemia, Thrombocytopenia ORPHA:470
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Neutrophilia, Splenomegaly, Thrombocytopenia ORPHA:99827
Chronic Visceral Acid Sphingomyelinase Deficiency
Autoimmune thrombocytopenia, Splenomegaly, Acute promyelocytic leukemia, Hypersplenism, Thrombocy... ORPHA:77293
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly ORPHA:731
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:301068
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Thrombocytopenia, Splenomegaly OMIM:256040
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly ORPHA:51
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Sarcoidosis
Eosinophilia, Leukopenia, Increased T cell count, Anemia, Hemolytic anemia, Thrombocytopenia ORPHA:797
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Digeorge Syndrome
Hypoplasia of the thymus, Anemia, Thrombocytopenia, Splenomegaly OMIM:188400
Leptospirosis
Thrombocytopenia ORPHA:509
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia 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 Cyp3a59

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 Cyp3a59.

No publications found that use IMPC mice or data for Cyp3a59.

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MGI Allele Allele Type Produced
Cyp3a59em1(IMPC)Marc Indel Mice
Cyp3a59tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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