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Gene: Tuba4a MGI:1095410

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

tubulin, alpha 4A

Synonyms:

Tuba4, M[a]4

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Tuba4a 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.

Human diseases associated with Tuba4a (1 diseases)
Human diseases predicted to be associated with Tuba4a (452 diseases)

The table below shows human diseases associated to Tuba4a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia			OMIM:616208

The table below shows human diseases predicted to be associated to Tuba4a by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre...	OMIM:617443
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac...	OMIM:601399
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo...	OMIM:614009
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi...	OMIM:300835
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas...	ORPHA:274
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Bleeding Disorder, Platelet-Type, 11	Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu...	OMIM:614201
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia	OMIM:610539
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Osteopetrosis, Autosomal Recessive 8	Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:613101
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Giant platelets, Thrombocytopenia	OMIM:611209
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Transaldolase Deficiency	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:101028
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia	ORPHA:2123
Amed Syndrome, Digenic	Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:619151
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:273800
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	OMIM:152700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia	OMIM:150550
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Babesiosis	Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:108
Congenital Toxoplasmosis	Anemia, Thrombocytopenia	ORPHA:858
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia	ORPHA:507
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia	ORPHA:27
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Isolated Agammaglobulinemia	Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia	ORPHA:229717
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:616050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612926
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Trichohepatoenteric Syndrome 1	Thrombocytosis, Splenomegaly, Increased mean platelet volume	OMIM:222470
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume	ORPHA:84064
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia	ORPHA:210136
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia	OMIM:620603
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia	OMIM:617718
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope...	OMIM:304790
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Rhabdoid Tumor	Anemia, Thrombocytopenia	ORPHA:69077
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:85212
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le...	ORPHA:86839
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Congenital Rubella Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:290
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio	OMIM:618048
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Tularemia	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:3392
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia	ORPHA:91547
Cog4-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:263501
Drug-Induced Lupus Erythematosus	Anemia, Thrombocytopenia	ORPHA:231111
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:613845
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:90060
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis	OMIM:619644
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Propionic Acidemia	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:606054
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Thrombotic Thrombocytopenic Purpura, Hereditary	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:274150
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:457077
Griscelli Syndrome	Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia	ORPHA:381
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Prolidase Deficiency	Anemia, Splenomegaly, Thrombocytopenia	OMIM:170100
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Cyclic Neutropenia	Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Hoyeraal-Hreidarsson Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Thrombocytopenia	OMIM:608104
Transaldolase Deficiency	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:606003
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Preeclampsia	Thrombocytopenia	ORPHA:275555
Hepatoportal Sclerosis	Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:64743
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Neutropenia	ORPHA:47
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613989
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Good Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Congenital Enterovirus Infection	Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia	ORPHA:292
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:169090
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Felty Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47612
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia	OMIM:606593
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251110
Cholesteryl Ester Storage Disease	Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro...	OMIM:278000
Wilson Disease	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:905
Immunodeficiency 22	Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia	OMIM:615758
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m...	OMIM:614700
Osteopetrosis, Autosomal Recessive 1	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:259700
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia	OMIM:618775
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou...	ORPHA:79124
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251100
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia	OMIM:617591
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Alg8-Cdg	Anemia, Thrombocytopenia	ORPHA:79325
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:613990
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:508542
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:267700
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:614576
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A...	OMIM:603553
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:540
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:277380
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia	OMIM:242900
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic ...	OMIM:610377
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Mirage Syndrome	Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen	OMIM:617053
Avian Influenza	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:454836
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Gaucher Disease Type 1	Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, Sp...	ORPHA:77259
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia	OMIM:308230
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang...	ORPHA:244242
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,...	ORPHA:1830
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Overlap Myositis	Leukopenia, Thrombocytopenia	ORPHA:206572
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227645
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Pediatric-Onset Graves Disease	Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen...	OMIM:557000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Thrombocytopenia	OMIM:301056
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:617303
Gaucher Disease, Type Ii	Anemia, Splenomegaly, Thrombocytopenia	OMIM:230900
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc...	OMIM:259720
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia	OMIM:208085
Castleman Disease	Anemia, Decreased mean corpuscular volume, Thrombocytopenia	ORPHA:160
Lathosterolosis	Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Thrombocytopenia	OMIM:603467
Shwachman-Diamond Syndrome	Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ...	ORPHA:811
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:90051
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia	ORPHA:464329
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Neuroblastoma	Anemia, Thrombocytopenia	ORPHA:635
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia	ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Thrombocytopenia	OMIM:619743
Bcard Syndrome	Thrombocytopenia	OMIM:612394
Gaucher Disease, Perinatal Lethal	Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	OMIM:608013
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Tangier Disease	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:31150
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia	OMIM:620654
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia	OMIM:251880
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Thrombocytopenia	ORPHA:261323
Farber Disease	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:333
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Mogs-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:79330
Congenital Syphilis	Anemia, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematopoiesis	ORPHA:499009
Gaucher Disease Type 3	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:77261
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia	OMIM:300972
Porphyria, Congenital Erythropoietic	Reduced erythrocyte uroporphyrinogen III cosynthase activity, Hemolytic anemia, Splenomegaly, Thr...	OMIM:263700
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227646
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:319213
Atelis Syndrome 2	Anemia, Thrombocytopenia	OMIM:620185
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:222700
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Thrombocytopenia	ORPHA:36426
Shigellosis	Thrombocytopenia, Leukocytosis, Splenic abscess, Microangiopathic hemolytic anemia	ORPHA:810
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p...	ORPHA:391487
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Increased circulating metamyelocyte count, Thrombocytopenia	ORPHA:36234
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Thrombocytopenia	OMIM:612199
Q Fever	Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	ORPHA:781
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con...	ORPHA:447
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia	ORPHA:870
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N...	ORPHA:3260
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:277400
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia	ORPHA:505248
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia	OMIM:620423
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Caroli Syndrome	Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:480520
Alg12-Cdg	Thrombocytopenia, B lymphocytopenia	ORPHA:79324
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia	OMIM:620005
Neuroleptic Malignant Syndrome	Leukocytosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Dubowitz Syndrome	Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Dyskeratosis Congenita	Anemia, Abnormality of neutrophils, Splenomegaly, Thrombocytopenia	ORPHA:1775
Aicardi-Goutieres Syndrome 7	Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Hemolytic anemia	OMIM:615846
Nijmegen Breakage Syndrome	Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia	ORPHA:647
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Thrombocytopenia, Megaloblastic anemia, Neutropenia	ORPHA:79282
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia	ORPHA:163979
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopenia, Anemia,...	OMIM:620376
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia	ORPHA:2785
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Insulin-Resistance Syndrome Type B	Leukopenia, Thrombocytopenia	ORPHA:2298
Pearson Syndrome	Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hypoplastic s...	ORPHA:699
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:50918
Dyskeratosis Congenita, X-Linked	Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:305000
Brucellosis	Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia	ORPHA:1304
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:274000
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Thrombocytopenia, Leukocytosis	ORPHA:544482
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:2072
Hemorrhagic Fever-Renal Syndrome	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:340
Wilson Disease	Anemia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:277900
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Thrombocytopenia, Anemia	ORPHA:470
Gaucher Disease	Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thrombocytopenia, An...	ORPHA:355
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocytic leukemia, Autoimmune thrombocy...	ORPHA:77293
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Anemia, Splenomegaly, Thrombocytopenia	OMIM:619525
Fanconi Anemia	Anemia, Leukopenia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia	ORPHA:84
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Ogden Syndrome	Iron deficiency anemia, Polycythemia, Thrombocytopenia	OMIM:300855
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism	ORPHA:731
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia	ORPHA:99827
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:567
Oculocerebrorenal Syndrome Of Lowe	Anemia, Thrombocytopenia	ORPHA:534
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Hardikar Syndrome	Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism	OMIM:301068
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Thrombocytopenia	OMIM:256040
Yellow Fever	Leukocytosis, Thrombocytopenia, Neutrophilia	ORPHA:99829
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia	ORPHA:51
Sarcoidosis	Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:797
Acute Liver Failure	Thrombocytopenia	ORPHA:90062
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Leptospirosis	Thrombocytopenia	ORPHA:509
Liver Disease, Severe Congenital	Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia	OMIM:619991
Digeorge Syndrome	Anemia, Hypoplasia of the thymus, Splenomegaly, Thrombocytopenia	OMIM:188400
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia		OMIM:616208

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 Tuba4a

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 Tuba4a.

There are 1 publication 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)	Tuba4a^{em1(IMPC)Wtsi}	PMC7263671

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tuba4a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tuba4a^{tm459405(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tuba4a^{em1(IMPC)Wtsi}	Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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