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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... OMIM:615285
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, Distal sensory... OMIM:159550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Intention tremor, Action tremor, Thrombocytopenia, Gait ataxia OMIM:254900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Folate Malabsorption, Hereditary
Athetosis, Neutropenia, Leukopenia, Failure to thrive, Ataxia, Thrombocytopenia, Folate-responsiv... OMIM:229050
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
Immunodeficiency 46
Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia OMIM:616740
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Gaucher Disease, Type Iii
Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia, Decreased body weight OMIM:231000
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Thrombocytopenia OMIM:618048
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Intention tremor, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia ORPHA:67048
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nonprogressive cerebellar ataxia ORPHA:3327
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive OMIM:617718
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Malaria
Thrombocytopenia, Anemia ORPHA:673
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Autoinflammatory Syndrome, Familial, Behcet-Like
Chorea, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Thyrocerebroretinal Syndrome
Thrombocytopenia, Ataxia OMIM:274240
Amed Syndrome, Digenic
Leukopenia, Failure to thrive, Anemia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Thrombocytopenia OMIM:614727
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Ataxia OMIM:613839
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Choreoathetosis, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia ORPHA:79312
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Omenn Syndrome
B lymphocytopenia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B ly... OMIM:603554
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... OMIM:173470
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... OMIM:601399
Preeclampsia
Thrombocytopenia, Increased body mass index, Small for gestational age ORPHA:275555
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Gaucher Disease, Type Ii
Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Choreoathetosis, Chorea, Anemia, Thrombocytopenia ORPHA:289916
Leishmaniasis
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thro... ORPHA:507
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Choreoathetosis, Anemia, Ataxia, Thrombocytopenia ORPHA:27
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Congenital Toxoplasmosis
Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Isolated Agammaglobulinemia
Failure to thrive, Abnormal lymphocyte morphology, Anemia, Thrombocytopenia, Abnormality of neutr... ORPHA:229717
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis,... ORPHA:824
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombo... OMIM:616050
Lig4 Syndrome
Pancytopenia, Thrombocytopenia, Failure to thrive OMIM:606593
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Sengers Syndrome
Thrombocytopenia OMIM:212350
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Thrombocytopenia OMIM:617475
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Rhabdoid Tumor
Thrombocytopenia, Weight loss, Anemia ORPHA:69077
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia, Paresthesia ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:54057
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Failure to thrive, Anemia, Autoimmune thrombocytop... OMIM:304790
Hereditary Folate Malabsorption
Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia ORPHA:90045
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Tufted Angioma
Thrombocytopenia, Anemia, Paresthesia ORPHA:1063
Stt3B-Cdg
Failure to thrive, Thrombocytopenia ORPHA:370924
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Leukopenia OMIM:243500
Fetal Gaucher Disease
Abnormality of the spleen, Neonatal death, Stillbirth, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Weight loss, Splenomegaly, Myeloproliferative disorder, Thrombocyto... ORPHA:3226
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ataxia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia OMIM:249270
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Weight loss, Ataxia ORPHA:79242
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Anemia, Abnormal mast cell mo... ORPHA:98850
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Babesiosis
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:108
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positi... OMIM:613011
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Thrombocytopenia, Anemia OMIM:608104
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Anemia, Large for gestational age, Thrombocytopenia OMIM:614520
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:101028
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Tremor, Ataxia, Thrombocytopenia OMIM:222300
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly, Ataxia, Failure to thrive in infancy ORPHA:263501
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Failure to thrive, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Methylmalonic Aciduria, Cbla Type
Neutropenia, Failure to thrive, Anemia, Tremor, Pancytopenia, Thrombocytopenia OMIM:251100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... ORPHA:331206
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Intermittent thrombocytopenia, Splenomegaly OMIM:150550
Wilson Disease
Failure to thrive, Weight loss, Anemia, Splenomegaly, Thrombocytopenia, Increased body weight ORPHA:905
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Failure to thrive in infancy, Anemia OMIM:611209
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly OMIM:615846
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Failure to thrive, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Transaldolase Deficiency
Small for gestational age, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytope... OMIM:606003
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Head titubation, Hypochromic microcytic anemia, Vestibular areflexia ORPHA:3240
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Thrombocytopenia, Leukopenia OMIM:251000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Thrombocytopenia, Anemia, Leukopenia OMIM:613845
X-Linked Agammaglobulinemia
Neutropenia, Failure to thrive, Weight loss, Anemia, Thrombocytopenia ORPHA:47
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Methylmalonic Aciduria, Cblb Type
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:251110
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, Anemia, Erythr... OMIM:612541
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Alg8-Cdg
Small for gestational age, Failure to thrive, Anemia, Ataxia, Thrombocytopenia ORPHA:79325
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Normocytic hypoplastic anem... OMIM:610377
Osteopetrosis, Autosomal Recessive 2
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia OMIM:259710
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Propionic Acidemia
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:606054
Hoyeraal-Hreidarsson Syndrome
Failure to thrive, Anemia, Ataxia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopen... ORPHA:100026
Osteopetrosis, Autosomal Recessive 5
Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Extramedullary hematopoiesis, Pancy... OMIM:259720
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:90060
Griscelli Syndrome
Leukopenia, Splenomegaly, Ataxia, Thrombocytopenia, Abnormality of neutrophils ORPHA:381
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Weight loss, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia OMIM:277380
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Felty Syndrome
Neutropenia, Weight loss, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia ORPHA:47612
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Neutropenia OMIM:614857
Shwachman-Diamond Syndrome 1
Neutropenia, Small for gestational age, Failure to thrive, Anemia, Persistence of hemoglobin F, A... OMIM:260400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Prolidase Deficiency
Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly OMIM:170100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:259700
Stormorken Syndrome
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia OMIM:185070
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Failure to thrive, Anemia, Splenomegaly, Ataxia, Thrombocytopenia, Hemophagocytosis OMIM:267700
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Fa... OMIM:614700
Pseudo-Torch Syndrome 1
Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:251290
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Failure to thrive, Anemia, Splenomegaly, Ataxia, Hepatosplenomegaly, Pancytopenia, Th... OMIM:603553
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Tremor, Reticulocytosis, Thrombocytopenia OMIM:274150
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Lysosomal Acid Lipase Deficiency
Leukopenia, Failure to thrive, Bone-marrow foam cells, Anemia, Splenomegaly, Hypersplenism, Hepat... OMIM:278000
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Tularemia
Leukocytosis, Anemia, Thrombocytopenia ORPHA:3392
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... ORPHA:86839
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia OMIM:187900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells,... ORPHA:79124
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Thrombocytopenia, Failure to thrive, Splenomegaly OMIM:614576
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Fanconi Anemia, Complementation Group E
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:600901
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Splenomegaly, Tremor, Th... ORPHA:525731
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia, Small for gestational age ORPHA:391673
Smith-Kingsmore Syndrome
Thrombocytopenia, Large for gestational age OMIM:616638
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:227650
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Small for gestational age OMIM:618775
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Failure to thrive, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:308230
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia OMIM:617591
Gaucher Disease, Perinatal Lethal
Opisthotonus, Neonatal death, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreas... OMIM:608013
Gaucher Disease, Type I
Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia ORPHA:292
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Small for gestational age, Failure to thr... ORPHA:1830
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:251880
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:242900
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Dysmetria, Tremor, Ataxia, Thrombocytopenia ORPHA:572798
Cyclic Neutropenia
Thrombocytopenia, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia ORPHA:2686
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Ataxia, Abnormal T cell subset distribution, Pancytopenia, Thr... ORPHA:158048
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Ataxia, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613990
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Boutonneuse Fever
Thrombocytopenia, Leukopenia ORPHA:83313
Hepatoportal Sclerosis
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia ORPHA:64743
Mirage Syndrome
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Decreased body weight, Hypoplastic spleen OMIM:617053
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Ataxia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Shwachman-Diamond Syndrome 2
Failure to thrive, Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Dengue Fever
Thrombocytopenia, Leukopenia ORPHA:99828
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal platelet functio... ORPHA:167
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:227645
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Small for gestational age, Anemia, Splenomegaly, Thrombocytopenia, Dec... ORPHA:90051
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Failure to thrive, Megaloblastic anemia, Tremor, Thrombocytopenia OMIM:277400
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Congenital thrombocytopenia OMIM:618886
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia OMIM:235400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Small for gestational age, Leukopenia OMIM:301056
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Thrombocytopenia ORPHA:99901
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Adams-Oliver Syndrome
Failure to thrive, Thrombocytopenia, Leukopenia ORPHA:974
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Fanconi Anemia, Complementation Group F
Failure to thrive, Thrombocytopenia, Anemia, Leukopenia OMIM:603467
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia ORPHA:77259
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis ORPHA:540
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia ORPHA:508542
Noonan Syndrome 4
Thrombocytopenia, Large for gestational age OMIM:610733
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Thrombocytopenia, Chorea, Microangiopathic hemolytic anemia ORPHA:464343
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Splenomegaly, Thrombocytopenia OMIM:617303
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia ORPHA:93552
Lathosterolosis
Failure to thrive, Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Hellp Syndrome
Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Thrombocy... ORPHA:244242
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Weight loss, Anemia ORPHA:160
Ebola Hemorrhagic Fever
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:319218
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Decreased body weight, Decreased hemoglobin concentration, Impaired pain sensation OMIM:619005
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Ataxia OMIM:616737
Good Syndrome
Thrombocytopenia, Anemia, Abnormal leukocyte morphology ORPHA:169105
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Tremor, Thrombocytopenia, Anemia, Ataxia OMIM:612199
Lysinuric Protein Intolerance
Leukopenia, Failure to thrive, Anemia, Truncal obesity, Splenomegaly, Thrombocytopenia, Hemophago... OMIM:222700
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Paresthesia, Failure to thrive, Anemia, Splenomegaly, Myeloprolifer... ORPHA:3260
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Farber Disease
Failure to thrive, Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:261323
Fanconi Anemia, Complementation Group D2
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:227646
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Leukopenia, Weight loss, Thrombocytopenia, Decreased body weight, Inc... ORPHA:2298
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:225750
Overlap Myositis
Thrombocytopenia, Leukopenia ORPHA:206572
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Shigellosis
Leukocytosis, Failure to thrive in infancy, Splenic abscess, Microangiopathic hemolytic anemia, T... ORPHA:810
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Chorea, Tremor, Thrombocytopenia ORPHA:94093
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Failure to thrive, Cong... OMIM:105650
Immunodeficiency 47
Normocytic anemia, Leukopenia, Failure to thrive, Splenomegaly, Accessory spleen, Thrombocytopenia OMIM:300972
Brucellosis
Leukocytosis, Thrombocytosis, Leukopenia, Small for gestational age, Failure to thrive, Chorea, W... ORPHA:1304
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Resting tremor, Lymphopenia, Thrombocytopenia ORPHA:319213
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Tremor, Thrombocytopenia, Somatic sensory dysfunction ORPHA:297
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Gaucher Disease Type 3
Anemia, Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia ORPHA:77261
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Q Fever
Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia ORPHA:781
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Failure to thrive, Megaloblastic anemia, Ataxia, Thrombocytopenia ORPHA:79282
Kaposiform Lymphangiomatosis
Anemia, Abnormal spleen morphology, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia ORPHA:464329
Stevens-Johnson Syndrome
Thrombocytopenia, Weight loss, Anemia, Abnormality of neutrophils ORPHA:36426
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Weight loss, Neutropenia ORPHA:537
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Tangier Disease
Thrombocytopenia, Hepatosplenomegaly, Impaired temperature sensation, Anemia ORPHA:31150
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:90038
Alg12-Cdg
Failure to thrive, Thrombocytopenia, B lymphocytopenia ORPHA:79324
Pearson Syndrome
Neutropenia, Small for gestational age, Anemia, Splenomegaly, Ataxia, Reticulocytosis, Pancytopen... ORPHA:699
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia, Elliptocytosis ORPHA:2785
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Bacterial Toxic-Shock Syndrome
Thrombocytopenia, Increased circulating myelocyte count, Increased circulating metamyelocyte count ORPHA:36234
Deeah Syndrome
Thrombocytopenia, Decreased body weight, Decreased hemoglobin concentration, Impaired pain sensation OMIM:619004
Nijmegen Breakage Syndrome
Cachexia, Acute leukemia, Thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia ORPHA:647
Nijmegen Breakage Syndrome
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:251260
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Weight loss, Anemia, Splenomegaly, Ataxia, Lymphocytosis, Thrombocytopenia ORPHA:50918
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Weight loss, Anemia, Thrombocytopenia ORPHA:88673
Congenital Erythropoietic Porphyria
Paresthesia, Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Poikilocytosis, Retic... ORPHA:79277
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Immunodeficiency 87 And Autoimmunity
Small for gestational age, Lymphopenia, Decreased proportion of CD4-positive T cells, Decreased C... OMIM:619573
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thro... ORPHA:2072
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hepatosplenomegaly, Anemia, Leukopenia ORPHA:505248
Jacobsen Syndrome
Failure to thrive, Thrombocytopenia OMIM:147791
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... ORPHA:391487
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia OMIM:274000
Gaucher Disease
Anemia, Splenomegaly, Tremor, Ataxia, Pancytopenia, Thrombocytopenia ORPHA:355
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Dubowitz Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils ORPHA:235
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Chorea, Normochromic anemia, Decreased proportion of CD4-positive ... ORPHA:289390
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Erythroid hyperplasia, Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hemol... ORPHA:447
Dyskeratosis Congenita, X-Linked
Leukopenia, Anemia, Acute myeloid leukemia, Ataxia, Pancytopenia, Thrombocytopenia OMIM:305000
Caroli Syndrome
Leukocytosis, Hypersplenism, Thrombocytopenia, Leukopenia ORPHA:480520
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Decreased body weight, Anemia, Thrombocytopenia ORPHA:340
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Fanconi Anemia
Leukopenia, Weight loss, Anemia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Anemia ORPHA:163979
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Anemia, Splenomegaly, Microcytic anemia, Thrombocytopenia OMIM:619525
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Lymphopenia, R... ORPHA:99826
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Dyskeratosis Congenita
Thrombocytopenia, Anemia, Abnormality of neutrophils, Splenomegaly ORPHA:1775
Lysinuric Protein Intolerance
Leukopenia, Failure to thrive, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis ORPHA:470
Osteogenesis Imperfecta
Paresthesia, Small for gestational age, Ataxia, Thrombocytopenia, Somatic sensory dysfunction ORPHA:666
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Failure to thrive, Obesity, Hypoplasia of the thymus, Splenomegaly, ... ORPHA:567
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Chronic Visceral Acid Sphingomyelinase Deficiency
Splenomegaly, Acute promyelocytic leukemia, Hypersplenism, Autoimmune thrombocytopenia, Ataxia, T... ORPHA:77293
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Thrombocytopenia, Anemia ORPHA:534
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Thrombocytopenia, Microcytic anemia, Splenomegaly OMIM:256040
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Thrombocytopenia ORPHA:544482
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Weight loss ORPHA:79078
Aicardi-Goutières Syndrome
Tremor, Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia ORPHA:51
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Splenomegaly, Neutrophilia, Pancytopenia, Thrombocytopenia ORPHA:99827
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia, Ataxia ORPHA:466650
Hardikar Syndrome
Failure to thrive, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Thrombocytopenia OMIM:301068
Acute Liver Failure
Thrombocytopenia, Pain insensitivity, Ataxia ORPHA:90062
Sarcoidosis
Leukopenia, Increased T cell count, Weight loss, Anemia, Thrombocytopenia, Eosinophilia, Hemolyti... ORPHA:797
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly ORPHA:731
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Noonan Syndrome 1
Failure to thrive in infancy, Juvenile myelomonocytic leukemia, 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 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
Mafgtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Mafgtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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