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Gene: Fundc2 MGI:1914641

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

FUN14 domain containing 2

Synonyms:

4833415N24Rik, DC44, HCBP6

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 Fundc2 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 Fundc2 (0 diseases)
Human diseases predicted to be associated with Fundc2 (437 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fundc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Platelet Glycoprotein Iv Deficiency	Giant platelets, Prolonged bleeding time, Thrombocytopenia	OMIM:608404
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induc...	OMIM:619271
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
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
Platelet Disorder, Undefined	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Athrombia, Essential	Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation	OMIM:209050
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo...	OMIM:231200
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia, Prolonged bleeding time	ORPHA:238459
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Myh9-Related Disease	Giant platelets, Prolonged bleeding time, Congenital thrombocytopenia, Neutrophil inclusion bodie...	ORPHA:182050
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Von Willebrand Disease, Type 3	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia	OMIM:610539
Diffuse Neonatal Hemangiomatosis	Anemia, Patent ductus arteriosus, Thrombocytopenia	ORPHA:2123
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib	OMIM:603585
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
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:613101
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim...	OMIM:614074
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Babesiosis	Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:108
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Transaldolase Deficiency	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:101028
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Osteopetrosis, Autosomal Recessive 8	Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Amed Syndrome, Digenic	Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:619151
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia	OMIM:150550
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia	ORPHA:507
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Congenital Toxoplasmosis	Anemia, Thrombocytopenia	ORPHA:858
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:616050
Congenital Rubella Syndrome	Anemia, Splenomegaly, Patent ductus arteriosus, Thrombocytopenia	ORPHA:290
Isolated Agammaglobulinemia	Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia	ORPHA:229717
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia	ORPHA:27
Relapsing Fever	Leukopenia, Leukocytosis, Prolonged prothrombin time, Neutrophilia, Anemia, Thrombocytopenia	ORPHA:91547
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia	OMIM:620603
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	OMIM:152700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope...	OMIM:304790
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Patent ductus arteriosus, Neutropenia	OMIM:614857
Acquired Purpura Fulminans	Thrombocytopenia, Prolonged prothrombin time	ORPHA:49566
Von Willebrand Disease	Microcytic anemia, Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia	ORPHA:903
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Hepatoportal Sclerosis	Hypersplenism, Leukopenia, Splenomegaly, Prolonged prothrombin time, Thrombocytopenia, Anemia	ORPHA:64743
Rhabdoid Tumor	Anemia, Thrombocytopenia	ORPHA:69077
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:85212
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio	OMIM:618048
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Patent ductus arteriosus, Thrombocytopenia	OMIM:608104
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia	ORPHA:210136
Transaldolase Deficiency	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Patent ductus arteriosus	OMIM:606003
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Tularemia	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:3392
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Patent ductus arteriosus, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis	OMIM:619644
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le...	ORPHA:86839
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Propionic Acidemia	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:606054
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
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
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Prolonged prothrombi...	ORPHA:2330
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Cog4-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:263501
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Prolonged prothromb...	OMIM:603553
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Patent ductus arteriosus, Thrombocytopenia	OMIM:614576
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Prolonged prothrombin time, Thrombocytopenia, Anemia	OMIM:267700
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:613845
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Griscelli Syndrome	Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia	ORPHA:381
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:90060
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Congenital Enterovirus Infection	Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia	ORPHA:292
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Anemia, Patent ductus arteriosus	OMIM:277380
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m...	OMIM:614700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Neutropenia	ORPHA:47
Pseudo-Torch Syndrome 1	Splenomegaly, Patent ductus arteriosus, Thrombocytopenia	OMIM:251290
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Thrombocytopenia	OMIM:617397
Prolidase Deficiency	Anemia, Splenomegaly, Thrombocytopenia	OMIM:170100
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Drug-Induced Lupus Erythematosus	Anemia, Thrombocytopenia	ORPHA:231111
Mirage Syndrome	Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen, Patent ductus arteriosus	OMIM:617053
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Cholesteryl Ester Storage Disease	Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro...	OMIM:278000
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei...	ORPHA:274
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613989
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Felty Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47612
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Neutropenia, Thrombocytopenia, Prolonged prothrombin time	OMIM:616271
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Patent ductus arteriosus	OMIM:617303
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou...	ORPHA:79124
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia, Prolonged prothrombin time	ORPHA:99901
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Thrombotic Thrombocytopenic Purpura, Hereditary	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:274150
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia, Prolonged prothrombin time	OMIM:617941
Cyclic Neutropenia	Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia	OMIM:242900
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Thrombocytopenia, Prolonged prothrombin time...	ORPHA:244242
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Alg8-Cdg	Anemia, Thrombocytopenia	ORPHA:79325
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic anemia,...	ORPHA:906
Osteopetrosis, Autosomal Recessive 1	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:259700
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Fanconi Anemia, Complementation Group B	Aplastic anemia, Patent ductus arteriosus, Thrombocytopenia	OMIM:300514
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:613990
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:457077
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia	OMIM:606593
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,...	ORPHA:1830
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Preeclampsia	Thrombocytopenia	ORPHA:275555
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:508542
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:540
Wilson Disease	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251110
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Thrombocytopenia	OMIM:301056
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:169090
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic ...	OMIM:610377
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Giant platelets, Thrombocytopenia	OMIM:611209
Hoyeraal-Hreidarsson Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251100
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Patent ductus arteriosus, Thrombocytopenia	OMIM:603467
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Gaucher Disease Type 1	Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, Sp...	ORPHA:77259
Avian Influenza	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:454836
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Pediatric-Onset Graves Disease	Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Patent ductus arteriosus	OMIM:620654
Shwachman-Diamond Syndrome	Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ...	ORPHA:811
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc...	OMIM:259720
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Immunodeficiency 22	Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia	OMIM:615758
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia	OMIM:617591
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia	OMIM:308230
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen...	OMIM:557000
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Good Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227645
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia	OMIM:618775
Alg12-Cdg	Thrombocytopenia, Patent ductus arteriosus, Prolonged prothrombin time, B lymphocytopenia	ORPHA:79324
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Ivic Syndrome	Leukocytosis, Patent ductus arteriosus, Thrombocytopenia	OMIM:147750
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia	OMIM:208085
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:90051
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Patent ductus a...	OMIM:227646
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Gaucher Disease, Perinatal Lethal	Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	OMIM:608013
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Overlap Myositis	Leukopenia, Thrombocytopenia	ORPHA:206572
Atelis Syndrome 2	Anemia, Patent ductus arteriosus, Thrombocytopenia	OMIM:620185
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Thrombocytopenia	OMIM:619743
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia	ORPHA:464329
Farber Disease	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:333
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Lathosterolosis	Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Thrombocytopenia	ORPHA:261323
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Hepatosplenomegaly, Thrombocytopenia, Anemia, Patent ductus arteriosus	ORPHA:505248
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:319213
Bcard Syndrome	Thrombocytopenia	OMIM:612394
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia	ORPHA:90038
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Gaucher Disease, Type Ii	Anemia, Splenomegaly, Thrombocytopenia	OMIM:230900
Neuroblastoma	Anemia, Thrombocytopenia	ORPHA:635
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Castleman Disease	Anemia, Decreased mean corpuscular volume, Thrombocytopenia	ORPHA:160
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Increased circulating metamyelocyte count, Thrombocytopenia	ORPHA:36234
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia	ORPHA:870
Mogs-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:79330
Congenital Syphilis	Anemia, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematopoiesis	ORPHA:499009
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia, Patent ductus ...	OMIM:620005
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia	OMIM:251880
Shigellosis	Thrombocytopenia, Leukocytosis, Splenic abscess, Microangiopathic hemolytic anemia	ORPHA:810
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia	OMIM:300972
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p...	ORPHA:391487
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia	OMIM:617718
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N...	ORPHA:3260
Dubowitz Syndrome	Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Q Fever	Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	ORPHA:781
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:277400
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Thrombocytopenia	OMIM:612199
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:222700
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Thrombocytopenia	ORPHA:36426
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Gaucher Disease Type 3	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:77261
Neuroleptic Malignant Syndrome	Leukocytosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Patent ductus arteriosus, Thrombocytopenia	ORPHA:163979
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Dyskeratosis Congenita	Anemia, Abnormality of neutrophils, Splenomegaly, Thrombocytopenia	ORPHA:1775
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
Porphyria, Congenital Erythropoietic	Reduced erythrocyte uroporphyrinogen III cosynthase activity, Hemolytic anemia, Splenomegaly, Thr...	OMIM:263700
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Patent ductus arteriosus	OMIM:274000
Aicardi-Goutieres Syndrome 7	Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Hemolytic anemia	OMIM:615846
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Thrombocytopenia, Megaloblastic anemia, Neutropenia	ORPHA:79282
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia	OMIM:620423
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con...	ORPHA:447
Tangier Disease	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:31150
Pearson Syndrome	Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hypoplastic s...	ORPHA:699
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Caroli Syndrome	Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:480520
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Nijmegen Breakage Syndrome	Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia	ORPHA:647
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Fanconi Anemia	Leukopenia, Thrombocytopenia, Anemia, Patent ductus arteriosus, Pyridoxine-responsive sideroblast...	ORPHA:84
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
Ogden Syndrome	Thrombocytopenia, Polycythemia, Patent ductus arteriosus, Iron deficiency anemia	OMIM:300855
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia	OMIM:619525
Insulin-Resistance Syndrome Type B	Leukopenia, Thrombocytopenia	ORPHA:2298
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Brucellosis	Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia	ORPHA:1304
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Dyskeratosis Congenita, X-Linked	Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:305000
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia, Patent duc...	ORPHA:567
Hemorrhagic Fever-Renal Syndrome	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:340
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:50918
Wilson Disease	Anemia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:277900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:2072
Gaucher Disease	Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thrombocytopenia, An...	ORPHA:355
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Thrombocytopenia, Leukocytosis	ORPHA:544482
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Thrombocytopenia, Anemia	ORPHA:470
Hardikar Syndrome	Hepatosplenomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Patent ductus arteriosus	OMIM:301068
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Oculocerebrorenal Syndrome Of Lowe	Anemia, Thrombocytopenia	ORPHA:534
Yellow Fever	Thrombocytopenia, Leukocytosis, Prolonged prothrombin time, Neutrophilia	ORPHA:99829
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia	ORPHA:99827
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Acute Liver Failure	Thrombocytopenia, Prolonged prothrombin time	ORPHA:90062
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism	ORPHA:731
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Thrombocytopenia	OMIM:256040
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocytic leukemia, Autoimmune thrombocy...	ORPHA:77293
Liver Disease, Severe Congenital	Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia, Patent ductus arteriosus	OMIM:619991
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
Digeorge Syndrome	Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia, Anemia, Patent ductus arteriosus	OMIM:188400
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Patent ductus arteriosus, Amegakaryocytic thrombocytopenia	OMIM:163950
Leptospirosis	Thrombocytopenia	ORPHA:509

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 Fundc2

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 Fundc2.

No publications found that use IMPC mice or data for Fundc2.

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
Fundc2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Fundc2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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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