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Gene: Mafg MGI:96911

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

v-maf musculoaponeurotic fibrosarcoma oncogene family, protein G (avian)

Synonyms:

C630022N07Rik

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 Mafg 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 Mafg (0 diseases)
Human diseases predicted to be associated with Mafg (417 diseases)

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

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

Disease	Matching phenotypes	Source
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th...	OMIM:229050
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Impaired vibration sensation in the lower limbs, Acute myelomonocytic leuke...	OMIM:159550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia	OMIM:619302
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Aicardi-Goutieres Syndrome 3	Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Gaucher Disease, Type Iii	Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:79312
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Intention tremor	OMIM:610539
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:615085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Chorea, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:289916
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
Stuve-Wiedemann Syndrome 2	Neonatal death, Stillbirth, Thrombocytopenia	OMIM:619751
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur...	OMIM:226990
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia	OMIM:616744
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:619151
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Thyrocerebroretinal Syndrome	Ataxia, Thrombocytopenia	OMIM:274240
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Choreoathetosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:27
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Thrombocytopenia	OMIM:614727
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Preeclampsia	Increased body mass index, Small for gestational age, Thrombocytopenia	ORPHA:275555
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia	OMIM:610333
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Congenital Toxoplasmosis	Thrombocytopenia, Failure to thrive in infancy, Anemia	ORPHA:858
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro...	ORPHA:507
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo...	OMIM:616050
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Isolated Agammaglobulinemia	Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morphology, Failure to thrive, ...	ORPHA:229717
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia	OMIM:603585
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Specific Granule Deficiency 2	Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:617475
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paresthesia, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Rhabdoid Tumor	Thrombocytopenia, Anemia, Weight loss	ORPHA:69077
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Dysmetria, Athetosis, Dystonia, Thrombocytopenia	OMIM:617710
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia	ORPHA:90045
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, Thrombocytopenia	ORPHA:85212
Cog4-Cdg	Ataxia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Tufted Angioma	Anemia, Paresthesia, Thrombocytopenia	ORPHA:1063
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer...	ORPHA:3226
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Ataxia, Thrombocytopenia	OMIM:249270
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Holocarboxylase Synthetase Deficiency	Ataxia, Thrombocytopenia, Weight loss	ORPHA:79242
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc...	ORPHA:98850
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:614520
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Propionic Acidemia	Pancytopenia, Neutropenia, Anemia, Dystonia, Failure to thrive, Thrombocytopenia	OMIM:606054
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Decreased proportion of memory B c...	OMIM:618048
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Thrombocytopenia	OMIM:222300
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Dystonia, Thrombocytopenia	ORPHA:3240
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ataxia, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:3322
Congenital Disorder Of Glycosylation, Type Ih	Neonatal death, Thrombocytopenia, Failure to thrive, Anemia	OMIM:608104
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:613845
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Wilson Disease	Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:905
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia	OMIM:619644
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr...	OMIM:606003
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:614857
Alg8-Cdg	Small for gestational age, Ataxia, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:79325
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
X-Linked Agammaglobulinemia	Weight loss, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:47
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Lig4 Syndrome	Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Failure to thrive, Thrombo...	OMIM:606593
Mevalonic Aciduria	Normocytic hypoplastic anemia, Ataxia, Failure to thrive in infancy, Fluctuating splenomegaly, Le...	OMIM:610377
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:251000
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251110
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro...	OMIM:214500
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:616271
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Griscelli Syndrome	Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Thrombocytopenia	ORPHA:381
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:613989
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Thrombocytopenia, Intention tremor	OMIM:254900
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Thrombocytopenia	OMIM:267700
Felty Syndrome	Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:170100
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane...	OMIM:260400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Ataxia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Fai...	OMIM:603553
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Pseudo-Torch Syndrome 1	Splenomegaly, Failure to thrive, Thrombocytopenia, Dystonia	OMIM:251290
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Small for gestational age, Megaloblastic anemia, Anemia, Neutropenia, Failure to th...	OMIM:277380
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop...	OMIM:278000
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Failure to thrive, Thrombocytopenia	OMIM:614576
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal...	ORPHA:79124
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Failure to thrive, Anemia	OMIM:615758
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Pediatric-Onset Graves Disease	Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Th...	ORPHA:525731
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Necrotizing Enterocolitis	Leukocytosis, Small for gestational age, Thrombocytopenia, Neutropenia	ORPHA:391673
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Dysmetria, Athetosis, Limb dystonia, Thrombocytopenia	ORPHA:572798
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Small for gestational age, Thrombocytopenia	OMIM:618775
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Smith-Kingsmore Syndrome	Thrombocytopenia, Large for gestational age	OMIM:616638
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Neutropenia, Lymphop...	OMIM:242900
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:617591
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Thrombocytopenia, Decreased proportion of naive CD8...	ORPHA:1830
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Gaucher Disease, Perinatal Lethal	Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Decreased body weight, Neonatal death, Th...	OMIM:608013
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis...	ORPHA:158048
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Ataxia, Aplastic anemia, Leukopenia, Thrombocytopenia	OMIM:613990
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Small for gestational age, Thrombocytopenia	OMIM:208085
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Mirage Syndrome	Anemia, Leukopenia, Decreased body weight, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro...	OMIM:127550
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:64743
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:308230
Sepsis In Premature Infants	Small for gestational age, Splenomegaly, Leukocytosis, Anemia, Neutropenia, Decreased body weight...	ORPHA:90051
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Small for gestational age, Thrombocytopenia	OMIM:301056
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Somatic sensory dysfunction, Ataxia, Tremor, Thrombo...	ORPHA:167
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenom...	OMIM:612541
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227645
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Failure to thrive in infancy, Anemia	OMIM:611209
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:617941
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Acyl-Coa Dehydrogenase 9 Deficiency	Failure to thrive, Thrombocytopenia	ORPHA:99901
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Chorea, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:77259
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Tremor, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:277400
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia, Dystonia	OMIM:225750
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Anemia, Dystonia, Thrombocytopenia	OMIM:612199
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:230900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Postural tremor, Ataxia, Splenomegaly, Truncal obesity, Truncal ataxia, Thrombocytopenia	OMIM:301072
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Failure to thrive, Anemia	OMIM:603467
Adams-Oliver Syndrome	Leukopenia, Failure to thrive, Thrombocytopenia	ORPHA:974
Noonan Syndrome 4	Thrombocytopenia, Large for gestational age	OMIM:610733
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Failure to thrive, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia	OMIM:620072
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:617303
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss	ORPHA:160
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Lathosterolosis	Thrombocytopenia, Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Failure to thrive, Thrombocytopenia	OMIM:251880
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Farber Disease	Thrombocytopenia, Failure to thrive, Anemia, Hepatosplenomegaly	ORPHA:333
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Ataxia, Increased mean platelet volume	OMIM:616737
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Decreased body weight, Thrombocytopenia, Impaired pain sensation	OMIM:619005
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, Limb dystonia	ORPHA:457351
Lysinuric Protein Intolerance	Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thrive, Thrombocy...	OMIM:222700
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Failure to thrive in infancy, Anemia	ORPHA:261323
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Idiopathic Hypereosinophilic Syndrome	Somatic sensory dysfunction, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenome...	ORPHA:3260
Neuroleptic Malignant Syndrome	Oculogyric crisis, Tremor, Leukocytosis, Chorea, Thrombocytosis, Thrombocytopenia	ORPHA:94093
Wilson Disease	Hemolytic anemia, Dystonia, Tremor, Splenomegaly, Hypoesthesia, Hand tremor, Anemia, Limb dystoni...	OMIM:277900
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227646
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:300972
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Lujo Hemorrhagic Fever	Resting tremor, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319213
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Shigellosis	Failure to thrive in infancy, Leukocytosis, Microangiopathic hemolytic anemia, Splenic abscess, T...	ORPHA:810
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased body weight...	ORPHA:2298
Overlap Myositis	Leukopenia, Thrombocytopenia	ORPHA:206572
Brucellosis	Small for gestational age, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Chorea, W...	ORPHA:1304
Mogs-Cdg	Dystonia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss	ORPHA:36426
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Tick-Borne Encephalitis	Somatic sensory dysfunction, Tremor, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:297
Toxic Epidermal Necrolysis	Thrombocytopenia, Weight loss, Anemia, Neutropenia	ORPHA:537
Atelis Syndrome 2	Thrombocytopenia, Anemia, Dysmetria	OMIM:620185
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Megaloblastic anemia, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:79282
Q Fever	Splenomegaly, Weight loss, Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:781
Gaucher Disease Type 3	Pancytopenia, Ataxia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:77261
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Dystonia, Thrombocytopenia	OMIM:615846
Tangier Disease	Thrombocytopenia, Impaired temperature sensation, Anemia, Hepatosplenomegaly	ORPHA:31150
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Alg12-Cdg	Failure to thrive, B lymphocytopenia, Thrombocytopenia	ORPHA:79324
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Pearson Syndrome	Reticulocytosis, Pancytopenia, Ataxia, Small for gestational age, Splenomegaly, Anemia, Neutropen...	ORPHA:699
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Kikuchi-Fujimoto Disease	Ataxia, Splenomegaly, Weight loss, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Deeah Syndrome	Decreased hemoglobin concentration, Decreased body weight, Thrombocytopenia, Impaired pain sensation	OMIM:619004
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia	ORPHA:36234
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia	ORPHA:647
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Paresthesia, Poikilocy...	ORPHA:79277
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Failure to thrive, Thrombocytopenia	ORPHA:2785
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Limb ataxia, Hepatosplenomegaly,...	ORPHA:2072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:505248
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Jacobsen Syndrome	Failure to thrive, Thrombocytopenia	OMIM:147791
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Systemic Lupus Erythematosus	Leukopenia, Chorea, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Gaucher Disease	Pancytopenia, Ataxia, Tremor, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:355
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Primary Sjögren Syndrome	Normocytic anemia, Somatic sensory dysfunction, Chorea, Leukopenia, Normochromic anemia, Decrease...	ORPHA:289390
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Dyskeratosis Congenita	Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly	ORPHA:1775
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Anemia, Decreased body weight	ORPHA:340
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Ataxia, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Porphyria, Congenital Erythropoietic	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:263700
Lysinuric Protein Intolerance	Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Thrombocytopenia	ORPHA:470
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:480520
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Anemia	ORPHA:84
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Obesity, Hypoplasia of the thymus, Failure to thrive, ...	ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Anemia	ORPHA:163979
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Dysesthesia, Neutrophilia in presence of infection, Leukopenia, Abn...	ORPHA:99826
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:619525
Ogden Syndrome	Iron deficiency anemia, Torticollis, Polycythemia, Thrombocytopenia	OMIM:300855
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Osteogenesis Imperfecta	Somatic sensory dysfunction, Small for gestational age, Ataxia, Paresthesia, Thrombocytopenia	ORPHA:666
Oculocerebrorenal Syndrome Of Lowe	Anemia, Failure to thrive, Thrombocytopenia	ORPHA:534
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, T...	ORPHA:77293
Hardikar Syndrome	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Failure to thrive, Thrombocytopenia	OMIM:301068
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Tremor, Chronic lymphatic leukemia, Hepatosplenomegaly, Dys...	ORPHA:51
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Weight loss	ORPHA:79078
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Thrombocytopenia	ORPHA:544482
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Failure to thrive, Thrombocytopenia, Microcytic anemia	OMIM:256040
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Weight loss, Anemia, Leukopenia, Thromboc...	ORPHA:797
Exercise-Induced Malignant Hyperthermia	Ataxia, Thrombocytopenia	ORPHA:466650
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:99827
Acute Liver Failure	Pain insensitivity, Ataxia, Thrombocytopenia	ORPHA:90062
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Liver Disease, Severe Congenital	Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Failure to thrive, Anemia	OMIM:619991
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	ORPHA:731
Digeorge Syndrome	Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Thrombocytopenia	OMIM:188400
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy	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 Mafg

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 Mafg.

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

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MGI Allele	Allele Type	Produced
Mafg^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Mafg^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, 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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