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Gene: Tuba4a MGI:1095410

Registered for phenotyping at IMPC

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

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 (426 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	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Amegakaryocytic Thrombocytopenia, Congenital	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ...	OMIM:231200
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Myh9-Related Disease	Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p...	ORPHA:182050
Fechtner syndrome	Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets	OMIM:153640
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia	OMIM:133180
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair...	OMIM:173590
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:615285
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	ORPHA:517
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Fanconi Anemia, Complementation Group T	Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia	ORPHA:169079
Immunodeficiency 62	Autoimmune thrombocytopenia	OMIM:618459
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ...	OMIM:169400
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ...	OMIM:210250
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Thrombocytopenia 1	Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume	OMIM:313900
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Leukopenia, Thrombocytopenia	OMIM:614171
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:859
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal...	OMIM:601399
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot...	ORPHA:274
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis	OMIM:300367
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Thrombocytopenia	OMIM:617443
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia	OMIM:607616
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
+173470 integrin, beta-3	Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ...	OMIM:173470
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:603552
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly	OMIM:610539
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Thrombocytopenia	OMIM:617021
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Wt Limb-Blood Syndrome	Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia	OMIM:194350
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:613101
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Bone Marrow Failure Syndrome 4	Anemia, Thrombocytopenia, Leukopenia	OMIM:618116
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Sengers Syndrome	Thrombocytopenia	OMIM:212350
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Gray Platelet Syndrome	Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ...	OMIM:139090
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Systemic Lupus Erythematosus 17	Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Isovaleric Acidemia	Leukopenia, Thrombocytopenia, Pancytopenia	OMIM:243500
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia	OMIM:616737
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia	OMIM:254900
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia	ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Amed Syndrome, Digenic	Anemia, Thrombocytopenia, Acute myeloid leukemia, Leukopenia	OMIM:619151
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia	ORPHA:54057
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:610333
Transaldolase Deficiency	Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:101028
Glanzmann Thrombasthenia 1	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:273800
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Systemic Lupus Erythematosus	Hemolytic anemia, Leukopenia, Thrombocytopenia	OMIM:152700
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia	ORPHA:848
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Essential Thrombocythemia	Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly	ORPHA:3318
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	ORPHA:158029
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio	OMIM:150550
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Gaucher Disease, Type Ii	Anemia, Thrombocytopenia, Splenomegaly	OMIM:230900
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Lathosterolosis	Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increased mean platelet ...	OMIM:607330
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Lymphoproliferative Syndrome 1	Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe...	OMIM:613011
Babesiosis	Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly	ORPHA:108
Leishmaniasis	Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:507
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Congenital Toxoplasmosis	Anemia, Thrombocytopenia	ORPHA:858
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Thrombocytopenia, Leukopenia, Macrocytic anemia	ORPHA:27
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612926
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Dyskeratosis Congenita, Autosomal Recessive 2	Thrombocytopenia, Pancytopenia	OMIM:613987
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Wiskott-Aldrich Syndrome, Autosomal Dominant	Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla...	OMIM:600903
Isolated Agammaglobulinemia	Abnormality of neutrophils, Anemia, Thrombocytopenia, Abnormal lymphocyte morphology	ORPHA:229717
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612922
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis	ORPHA:84064
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count	OMIM:616050
Lig4 Syndrome	Thrombocytopenia, Pancytopenia	OMIM:606593
Primary Myelofibrosis	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi...	ORPHA:824
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Thrombocytosis, Splenomegaly	OMIM:222470
Gamma-Heavy Chain Disease	Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a...	ORPHA:100026
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Preeclampsia	Thrombocytopenia	ORPHA:275555
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Anemia, Neutropenia, Splenomegaly	ORPHA:79312
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb...	OMIM:308240
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ...	ORPHA:158057
Rhabdoid Tumor	Anemia, Thrombocytopenia	ORPHA:69077
Specific Granule Deficiency 2	Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia	OMIM:617475
Stormorken Syndrome	Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies	OMIM:185070
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia	OMIM:605432
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612925
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia	OMIM:246400
Hermansky-Pudlak Syndrome 5	Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytopenia	OMIM:614074
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia	OMIM:259710
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:603909
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Thrombocytopenia	ORPHA:487796
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia	ORPHA:210136
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo...	OMIM:301078
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,...	OMIM:304790
Portal Hypertension, Noncirrhotic, 2	Thrombocytopenia, Splenomegaly	OMIM:619463
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly...	OMIM:619802
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope...	ORPHA:3226
Fetal Gaucher Disease	Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia	ORPHA:85212
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia...	ORPHA:86839
Blue Rubber Bleb Nevus	Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Congenital Rubella Syndrome	Anemia, Thrombocytopenia, Splenomegaly	ORPHA:290
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I...	ORPHA:98850
Wiskott-Aldrich Syndrome	Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr...	OMIM:301000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Leukocytosis	ORPHA:83601
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells	OMIM:618048
Neonatal Lupus Erythematosus	Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:398124
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno...	ORPHA:331206
Drug-Induced Lupus Erythematosus	Anemia, Thrombocytopenia	ORPHA:231111
Gaucher Disease, Type I	Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:230800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Thrombocytopenia, Leukopenia	OMIM:613845
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Hermansky-Pudlak Syndrome 4	Abnormal platelet granules	OMIM:614073
Tularemia	Anemia, Thrombocytopenia, Leukocytosis	ORPHA:3392
Relapsing Fever	Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Thrombocytopenia	OMIM:611209
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia	OMIM:619644
Pseudo-Torch Syndrome 3	Anemia, Congenital thrombocytopenia, Leukocytosis	OMIM:618886
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis	OMIM:274150
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:251110
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc...	ORPHA:158061
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Cog4-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:263501
Griscelli Syndrome	Abnormality of neutrophils, Leukopenia, Thrombocytopenia, Splenomegaly	ORPHA:381
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Wolfram Syndrome 1	Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia	OMIM:222300
Propionic Acidemia	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:606054
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Cyclic Neutropenia	Cyclic neutropenia, Thrombocytopenia, Lymphopenia, Decreased eosinophil count	ORPHA:2686
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis	OMIM:235400
Chediak-Higashi Syndrome	Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric...	OMIM:214500
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:251100
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Diffuse Alveolar Hemorrhage	Anemia, Thrombocytopenia, Leukocytosis	ORPHA:90060
Hepatoportal Sclerosis	Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hypersplenism	ORPHA:64743
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Thrombocytopenia, Splenomegaly	ORPHA:169090
Congenital Enterovirus Infection	Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia	ORPHA:292
Transaldolase Deficiency	Splenomegaly, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia	OMIM:606003
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia	OMIM:277380
Acute Promyelocytic Leukemia	Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia	ORPHA:520
Felty Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia	ORPHA:47612
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Thrombocytopenia	OMIM:608104
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Neutropenia	ORPHA:47
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Thrombocytopenia	ORPHA:3322
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Thrombocytopenia, Aplastic anemia, Pancytopenia	OMIM:613990
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Prolidase Deficiency	Anemia, Thrombocytopenia, Splenomegaly	OMIM:170100
Good Syndrome	Abnormal leukocyte morphology, Anemia, Thrombocytopenia	ORPHA:169105
Wilson Disease	Anemia, Thrombocytopenia, Splenomegaly	ORPHA:905
Osteopetrosis, Autosomal Recessive 1	Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:259700
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Impaired AD...	OMIM:608233
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Lysosomal Acid Lipase Deficiency	Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Bone-marrow foam cells, H...	OMIM:278000
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Fanconi Anemia, Complementation Group E	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:600901
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia	OMIM:618775
Dyskeratosis Congenita, Autosomal Dominant 1	Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia	OMIM:127550
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A...	ORPHA:158048
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ...	ORPHA:79124
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly	OMIM:617591
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc...	OMIM:614700
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l...	OMIM:260400
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Congenital Disorder Of Glycosylation, Type Iil	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:614576
Gaucher Disease Type 1	Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism	ORPHA:77259
Fanconi Anemia, Complementation Group A	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:227650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:508542
Ebola Hemorrhagic Fever	Leukopenia, Thrombocytopenia, Lymphopenia	ORPHA:319218
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:540
Kasabach-Merritt Syndrome	Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop...	ORPHA:2330
Hermansky-Pudlak Syndrome 6	Impaired ADP-induced platelet aggregation, Abnormal platelet granules	OMIM:614075
Alg8-Cdg	Anemia, Thrombocytopenia	ORPHA:79325
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Thrombocytopenia, Splenomegaly	OMIM:251880
Schimke Immunoosseous Dysplasia	Lymphopenia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Abnormal T cell morphology	OMIM:242900
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia	OMIM:267700
Dyskeratosis Congenita, Autosomal Recessive 1	Thrombocytopenia, Aplastic anemia	OMIM:224230
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto...	OMIM:603553
Pseudo-Torch Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:251290
Mevalonic Aciduria	Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Anemia...	OMIM:610377
Mirage Syndrome	Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia	OMIM:617053
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia	ORPHA:464343
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia	ORPHA:93552
Fanconi Anemia, Complementation Group B	Thrombocytopenia, Aplastic anemia	OMIM:300514
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,...	OMIM:612541
Overlap Myositis	Leukopenia, Thrombocytopenia	ORPHA:206572
Fanconi Anemia, Complementation Group C	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:227645
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:617303
Avian Influenza	Leukopenia, Thrombocytopenia, Lymphopenia	ORPHA:454836
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Pancytope...	OMIM:557000
Pediatric-Onset Graves Disease	Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly	ORPHA:525731
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,...	ORPHA:1830
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia	OMIM:208085
Shwachman-Diamond Syndrome 2	Thrombocytopenia, Normocytic anemia, Neutropenia	OMIM:617941
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:308230
Osteopetrosis, Autosomal Recessive 5	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypochromic microcy...	OMIM:259720
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function...	ORPHA:906
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Hellp Syndrome	Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular...	ORPHA:244242
Shwachman-Diamond Syndrome	Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I...	ORPHA:811
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi...	ORPHA:124
Fanconi Anemia, Complementation Group F	Anemia, Thrombocytopenia, Leukopenia	OMIM:603467
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Thrombocytopenia	OMIM:301056
Aicardi-Goutieres Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:225750
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:90051
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Anemia, Thrombocytopenia	ORPHA:464329
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal...	ORPHA:167
Castleman Disease	Decreased mean corpuscular volume, Anemia, Thrombocytopenia	ORPHA:160
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:608013
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia	ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Thrombocytopenia	OMIM:619743
Tangier Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:31150
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:277400
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:263700
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Thrombocytopenia	ORPHA:261323
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia	OMIM:251260
Gaucher Disease Type 3	Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia	ORPHA:77261
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Farber Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:333
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Thrombocytopenia	OMIM:612199
Fanconi Anemia, Complementation Group D2	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:227646
Immunodeficiency 47	Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Thrombocytopenia	OMIM:300972
Lysinuric Protein Intolerance	Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia	OMIM:222700
Shigellosis	Splenic abscess, Microangiopathic hemolytic anemia, Thrombocytopenia, Leukocytosis	ORPHA:810
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia	ORPHA:36234
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune...	ORPHA:391487
Mogs-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:79330
Diamond-Blackfan Anemia 1	Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ...	OMIM:105650
Lujo Hemorrhagic Fever	Leukopenia, Thrombocytopenia, Lymphopenia, Leukocytosis	ORPHA:319213
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Q Fever	Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly	ORPHA:781
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia, A...	ORPHA:447
Stevens-Johnson Syndrome	Abnormality of neutrophils, Anemia, Thrombocytopenia	ORPHA:36426
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Congenital Erythropoietic Porphyria	Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb...	ORPHA:79277
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno...	ORPHA:3260
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly	ORPHA:505248
Caroli Syndrome	Leukopenia, Thrombocytopenia, Leukocytosis, Hypersplenism	ORPHA:480520
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Anemia, Thrombocytopenia	OMIM:620005
Alg12-Cdg	Thrombocytopenia, B lymphocytopenia	ORPHA:79324
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly	OMIM:301072
Nijmegen Breakage Syndrome	Hemolytic anemia, Acute leukemia, Thrombocytopenia, Autoimmune hemolytic anemia	ORPHA:647
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:2785
Neuroleptic Malignant Syndrome	Thrombocytosis, Thrombocytopenia, Leukocytosis	ORPHA:94093
Tick-Borne Encephalitis	Leukopenia, Thrombocytopenia, Leukocytosis	ORPHA:297
Dubowitz Syndrome	Abnormality of neutrophils, Anemia, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Aicardi-Goutieres Syndrome 7	Splenomegaly, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:615846
Hepatocellular Carcinoma	Polycythemia, Thrombocytosis, Anemia, Thrombocytopenia	ORPHA:88673
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Thrombocytopenia, Neutropenia	ORPHA:79282
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Dyskeratosis Congenita	Abnormality of neutrophils, Anemia, Thrombocytopenia, Splenomegaly	ORPHA:1775
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia	ORPHA:163979
Wilson Disease	Hemolytic anemia, Anemia, Thrombocytopenia, Splenomegaly	OMIM:277900
Insulin-Resistance Syndrome Type B	Leukopenia, Thrombocytopenia	ORPHA:2298
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Pearson Syndrome	Neutropenia, Splenomegaly, Reticulocytosis, Hypoplastic spleen, Pancytopenia, Anemia, Thrombocyto...	ORPHA:699
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Thrombocytopenia, Hemolytic anemia, Decreased proportion of CD4-positive T cells, Au...	OMIM:619573
Kikuchi-Fujimoto Disease	Lymphocytosis, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	ORPHA:50918
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Thrombocytopenia-Absent Radius Syndrome	Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Brucellosis	Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, Thrombocytopenia, Hypersplenism	ORPHA:1304
Dyskeratosis Congenita, X-Linked	Leukopenia, Pancytopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia	OMIM:305000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:2072
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Primary Sjögren Syndrome	Lymphopenia, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Thrombocytopenia, Leukocytosis	ORPHA:544482
Hemorrhagic Fever-Renal Syndrome	Anemia, Thrombocytopenia, Leukocytosis	ORPHA:340
Gaucher Disease	Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia	ORPHA:355
Chronic Visceral Acid Sphingomyelinase Deficiency	Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopenia, Acute promyelocytic leukemia, Hypers...	ORPHA:77293
Marburg Hemorrhagic Fever	Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R...	ORPHA:99826
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Congenital Disorder Of Glycosylation, Type Iiw	Thrombocytopenia, Anemia, Microcytic anemia, Splenomegaly	OMIM:619525
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Fanconi Anemia	Anemia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia, Leukopenia	ORPHA:84
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia	ORPHA:470
Ogden Syndrome	Polycythemia, Thrombocytopenia, Iron deficiency anemia	OMIM:300855
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Crimean-Congo Hemorrhagic Fever	Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Pancytopenia, Thrombocytopenia	ORPHA:99827
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly	ORPHA:731
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly	ORPHA:567
Hardikar Syndrome	Hepatosplenomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly	OMIM:301068
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Proteasome-Associated Autoinflammatory Syndrome 1	Thrombocytopenia, Microcytic anemia, Splenomegaly	OMIM:256040
Yellow Fever	Thrombocytopenia, Neutrophilia, Leukocytosis	ORPHA:99829
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia	ORPHA:51
Oculocerebrorenal Syndrome Of Lowe	Anemia, Thrombocytopenia	ORPHA:534
Sarcoidosis	Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell count	ORPHA:797
Acute Liver Failure	Thrombocytopenia	ORPHA:90062
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Leptospirosis	Thrombocytopenia	ORPHA:509
Liver Disease, Severe Congenital	Lymphocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia	OMIM:619991
Digeorge Syndrome	Hypoplasia of the thymus, Anemia, Thrombocytopenia, Splenomegaly	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}

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