Not currently registered for phenotyping at IMPC

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

Gene Summary

transcriptional regulator, SIN3B (yeast)

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Sin3b 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.

The table below shows human diseases associated to Sin3b by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Joint hypermobility ORPHA:500166

The table below shows human diseases predicted to be associated to Sin3b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Abnormal bone structure, Splenomegaly ORPHA:46532
Hemoglobin E Disease
Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volu... ORPHA:2133
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Short stature, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Thrombocytopenia, Growth delay, Neutropenia OMIM:614082
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Neonatal death, Eosinophilia OMIM:257100
Jaundice, Hemolytic anemia, Anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Neutropenia, Splenomegaly, Anemia OMIM:602079
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death, Anemia OMIM:273680
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, N... OMIM:615285
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Diamond-Blackfan Anemia 4
Short stature, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Growth delay, Neutropenia OMIM:612527
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... ORPHA:232
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Short stature, Neutropenia OMIM:616022
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Neutropenia ORPHA:90023
Reduced bone mineral density, Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepat... ORPHA:848
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Bone Marrow Failure Syndrome 6
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increa... OMIM:618849
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Diamond-Blackfan Anemia 8
Short stature, Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Neutropenia OMIM:612563
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Death in infancy, Anemia OMIM:619302
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Autoimmune thrombocytopenia, Leukemia, Hepatomegaly, Pancytopenia, Lymphocytosi... OMIM:614470
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Rickets, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume... OMIM:611590
Stuve-Wiedemann Syndrome 2
Camptodactyly, Death in adolescence, Intrauterine growth retardation, Neonatal death, Stillbirth,... OMIM:619751
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, S... OMIM:615631
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Increased susceptibility to fractures, Decreased liver function, Elev... ORPHA:231222
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Anemia, Intrauterine growth retardation, Short stature, Neutropenia OMIM:617056
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Hemochromatosis, Type 3
Anemia, Elevated hepatic transaminase, Lymphopenia, Cirrhosis, Arthritis, Neutropenia OMIM:604250
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Anemia, Congenital thrombocytopenia, Thrombocytopenia, R... OMIM:616738
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Lymphopenia, Arthritis, Eosinophilia ORPHA:2582
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia OMIM:610798
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Immunodeficiency 46
Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Decreased eosinophil count OMIM:131430
Immunodeficiency 88
Eosinophilia OMIM:619630
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Short stature, Thrombocytopenia, Neutropenia OMIM:617243
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Death in infancy OMIM:619301
Tyrosinemia Type 1
Hepatocellular carcinoma, Rickets of the lower limbs, Acute hepatic failure, Hepatomegaly, Spleno... ORPHA:882
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Abnormal erythrocyte morph... ORPHA:766
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia ORPHA:163596
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Macrocyti... ORPHA:86841
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Specific Granule Deficiency 2
Death in childhood, Absent neutrophil specific granules, Anemia, Death in infancy, Osteopenia, Th... OMIM:617475
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Growth delay OMIM:250800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Growth delay, Neutropenia ORPHA:289916
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Tooth abscess, Growth delay, Iron deficiency anemia ORPHA:89937
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... OMIM:300835
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Eosinophilic Fasciitis
Arthritis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Arthritis, Eosinophilia, Growth delay OMIM:607115
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:598500
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Growth ... OMIM:301078
Cholestasis, Progressive Familial Intrahepatic, 1
Rickets, Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Short stature, ... OMIM:211600
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Jaundice, Extramedullary hematopoiesis, Cholestasis, Hepatomegaly, Prolonged neonatal ja... ORPHA:79303
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Osteolysis, Leukocytosis, Pathologic fracture, Anemia, Leukemia, Osteoporosis... ORPHA:98850
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia, Elevated hepatic transaminase, Short stature, Exocrine pancreatic insufficiency OMIM:618752
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Acute lymphoblastic leuke... ORPHA:158057
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Erythrocytosis, Familial, 8
Increased hemoglobin, Increased hematocrit, Splenomegaly, Polycythemia OMIM:222800
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Intermittent jaundice, Polycythemia, Hemolytic anemia, Reticu... ORPHA:3202
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Thrombocytopenia, Increased he... OMIM:263300
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Death in infancy, Intrauterine growth retardation, Neonatal death, Decreased liver function OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Death in infancy, Intrauterine growth retardation, Neonatal death, Decreased liver function OMIM:618839
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Neutropenia ORPHA:2643
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Osteoporosis, Intrauterine growth retardation, Macrocytic anemia, Incre... ORPHA:2169
Neonatal Lupus Erythematosus
Hemolytic anemia, Abnormality of the liver, Cholestasis, Aplastic anemia, Anemia, Hepatomegaly, E... ORPHA:398124
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Fetal Gaucher Disease
Hepatomegaly, Death in infancy, Neonatal death, Stillbirth, Thrombocytopenia, Pancytopenia, Abnor... ORPHA:85212
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhos... OMIM:607765
Macrophage Activation Syndrome
Elevated circulating aspartate aminotransferase concentration, Hemophagocytosis, Anemia, Elevated... ORPHA:158061
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia OMIM:615387
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Neutropenia, Arthritis, Eosinophilia, Hepatitis, Thrombocyto... OMIM:304790
Fanconi Anemia, Complementation Group C
Anemia, Leukemia, Bone marrow hypocellularity, Intrauterine growth retardation, Reticulocytopenia... OMIM:227645
Dominant Beta-Thalassemia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Anisocytosis, Delayed puberty, Chronic he... ORPHA:231226
Idiopathic Aplastic Anemia
Anemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:88
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Anemia, Persistence of hemoglobin F, Hepatomegaly, Elevated he... OMIM:260400
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... OMIM:150550
Beta-Thalassemia Major
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Anisopoikilocytosis, Delayed puberty, Ext... ORPHA:231214
Diamond-Blackfan Anemia 6
Tracheomalacia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume... OMIM:612561
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Disorder Of Bile Acid Synthesis
Biliary tract abnormality, Rickets, Abnormality of the liver, Cholestasis, Elevated hepatic trans... ORPHA:79168
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Anemia, Cholestasis, Intrauterine growth retardation, Hepatomegaly, Death in infan... OMIM:608104
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Felty Syndrome
Osteolysis, Anemia, Bone marrow hypocellularity, Hepatomegaly, Abnormal lymphocyte morphology, Ar... ORPHA:47612
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... OMIM:224120
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia ORPHA:238459
Propionic Acidemia
Anemia, Pancreatitis, Osteoporosis, Hepatomegaly, Short stature, Thrombocytopenia, Pancytopenia, ... OMIM:606054
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Aplastic anemia, Fulminant hepatitis, Hepatomegaly, Thrombocytopenia, Pancytope... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Fanconi Anemia, Complementation Group E
Anemia, Leukemia, Reticulocytopenia, Short stature, Thrombocytopenia, Pancytopenia, Prolonged G2 ... OMIM:600901
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Reduced bone mineral density, Aplastic anemia, Anemia, Bone ma... OMIM:617052
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Craniosynostosis, Osteopenia, Eosinophilia, Cutaneous abscess, Recurrent fractures, Joint hypermo... OMIM:147060
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Hereditary Elliptocytosis
Jaundice, Reticulocytosis, Elliptocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Pro... ORPHA:288
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Thrombocytopenia, Myelofibrosis, Splenomegaly OMIM:617441
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Fanconi Anemia, Complementation Group A
Anemia, Leukemia, Reticulocytopenia, Short stature, Thrombocytopenia, Pancytopenia, Prolonged G2 ... OMIM:227650
Diamond-Blackfan Anemia 7
Osteoporosis, Intrauterine growth retardation, Macrocytic anemia, Osteopenia, Increased mean corp... OMIM:612562
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short stature, Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Bile Acid Conjugation Defect 1
Rickets, Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circul... OMIM:619232
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Anemia, Short stature, Arthritis, Hepatitis, Thrombocytope... ORPHA:47
Roifman Syndrome
Hepatomegaly, Short stature, Intrauterine growth retardation, Eosinophilia, Hip contracture, Post... OMIM:616651
Cyclic Neutropenia
Peritonitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cyclic ... ORPHA:2686
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Roifman Syndrome
Hepatosplenomegaly, Intrauterine growth retardation, Short stature, Eosinophilia, Delayed proxima... ORPHA:353298
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Aregenerative Anemia
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... ORPHA:101096
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Osteopenia, Eo... ORPHA:486
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa... ORPHA:171
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Bone marrow hypocellularity, Hepatic fibrosis, Osteoporosis, Short s... OMIM:613989
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Neutropenia, Anemia OMIM:619835
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Transcobalamin Ii Deficiency
Hepatomegaly, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Pancytopenia, Neutropenia OMIM:275350
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Short stature, Anemia of inadequate production, Radioulnar synostosi... OMIM:614900
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Elevated hepatic transaminase, Short statu... ORPHA:98870
Whim Syndrome 1
Neutropenia OMIM:193670
Shwachman-Diamond Syndrome 2
Death in childhood, Normocytic anemia, Neutropenia, Hepatomegaly, Short stature, Death in infancy... OMIM:617941
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatic cysts OMIM:618999
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Celiac Disease, Susceptibility To, 1
Rickets, Delayed puberty, Osteoporosis, Elevated hepatic transaminase, Short stature, Macrocytic ... OMIM:212750
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Short stature, Intrauterine growth retardation, Prolonged neonatal jaundice, HbH hemoglobin ORPHA:423479
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Joint hypermobility, Persistence of hemoglobin F, Short stature OMIM:617101
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Leukopenia, Anemia, Cholestasis, Hepatitis, Thrombo... ORPHA:292
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Craniosynostosis, Joint contracture of the hand, Eosinophilia OMIM:618523
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Hemolytic anemia, Anemia, Lymphopenia, Microcytic anemia, Hyperostosis,... ORPHA:906
Omenn Syndrome
Leukocytosis, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Eosinophilia, Splenomegaly ORPHA:39041
Wolcott-Rallison Syndrome
Acute hepatic failure, Jaundice, Abnormality of the liver, Neutropenia, Hepatomegaly, Elevated he... ORPHA:1667
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteoporosis, Osteomalacia, Growth delay, Iron deficiency anemia, Exocrine pancreatic in... ORPHA:309031
Abcd Syndrome
Polycythemia, Neonatal death OMIM:600501
Shwachman-Diamond Syndrome
Hepatomegaly, Macrocytic anemia, Acute myeloid leukemia, Pancreatic hypoplasia, Leukopenia, Normo... ORPHA:811
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intrauterine growth retardation, Reduced number of intrahepatic bile ducts,... ORPHA:79284
Kimura Disease
Eosinophilia ORPHA:482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Eosinophilia OMIM:253600
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Pearson Marrow-Pancreas Syndrome
Death in childhood, Refractory sideroblastic anemia, Anemia, Neutropenia, Hepatomegaly, Elevated ... OMIM:557000
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Reduced bone mineral density, Anemia, Cholestasis, Bile duct proliferation, Elevated hep... OMIM:613658
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:572
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thi... OMIM:600785
Methylmalonic Aciduria, Cblb Type
Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:251110
Schimke Immunoosseous Dysplasia
Anemia, Neutropenia, Intrauterine growth retardation, Lymphopenia, Disproportionate short-trunk s... OMIM:242900
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Wilson Disease
Acute hepatic failure, Hepatocellular carcinoma, Jaundice, Atypical or prolonged hepatitis, Eleva... OMIM:277900
Hereditary Folate Malabsorption
Thrombocytopenia, Pancytopenia, Megaloblastic anemia, Eosinophilia ORPHA:90045
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal natural killer ce... ORPHA:158048
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatomegaly, Elevated hepatic tra... ORPHA:540
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Impaired... OMIM:214500
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Ab... ORPHA:400
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Short stature, Osteomalacia, Hypophosphatemic rickets OMIM:193100
Cartilage-Hair Hypoplasia
Limited elbow extension, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Lymp... OMIM:250250
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Hypermanganesemia With Dystonia 1
Polycythemia, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Decreased liver function OMIM:613280
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Immunodeficiency 55
Absent natural killer cells, Intrauterine growth retardation, Short stature, Lymphopenia, Postnat... OMIM:617827
Alveolar Echinococcosis
Cholangitis, Jaundice, Biliary cirrhosis, Liver abscess, Abnormal spleen morphology, Anemia, Abno... ORPHA:284
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Reticulocytopenia, Short stature, T... ORPHA:508542
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Death in childhood, Death in adolescence, Osteoporosis, Hepatomegaly OMIM:560000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia OMIM:251000
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Lymphopenia, Reduced natural killer cell count, Increased susceptibility to fractures, Cutaneous ... OMIM:619752
Fanconi Anemia, Complementation Group D2
Anemia, Prolonged G2 phase of cell cycle, Leukemia, Bone marrow hypocellularity, Reticulocytopeni... OMIM:227646
Mccune-Albright Syndrome
Fibrous dysplasia of the bones, Hepatocellular adenoma, Cholestasis, Pancreatitis, Bone marrow hy... ORPHA:562
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Rhizomelia, Intrauterine growth retardation, Thrombocytopenia, Hepatic steatosis, Gro... OMIM:616271
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hemolytic anemia, Hepatomegaly, Cirrhosis, Splenomegaly, Hepatitis, Thrombocyt... OMIM:308230
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro... ORPHA:443811
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Anemia, Pancreatitis, Bone marrow hypocellularity, Dis... ORPHA:1830
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, B lymphocytope... OMIM:619705
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Anemia, Hepatomegaly, Short stature, Thrombocytopenia, Pancytopenia, Neutro... OMIM:277380
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Growth delay, Splenomegaly OMIM:617388
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Delayed ossification of carpal bones, Death in infancy, Lymphopenia, Eosinophilia, Disproportiona... OMIM:617425
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Leukopenia, Anemia, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopen... OMIM:617303
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepa... ORPHA:169160
Hypophosphatemic Bone Disease
Rickets, Short stature, Osteomalacia OMIM:146350
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Barth Syndrome
Cyclic neutropenia, Growth delay, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia OMIM:302060
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:520
Axial Osteomalacia
Polycystic liver disease, Osteomalacia, Increased bone mineral density OMIM:109130
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Wells Syndrome
Eosinophilia ORPHA:901
Peeling Skin Syndrome 1
Short stature, Eosinophilia OMIM:270300
Kasabach-Merritt Syndrome
Hepatic hemangioma, Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Throm... ORPHA:2330
Autosomal Agammaglobulinemia
Hepatitis, Osteomyelitis, Arthritis, Neutropenia ORPHA:33110
Lead Poisoning
Delayed puberty, Miscarriage, Anemia, Imbalanced hemoglobin synthesis, Cranial hyperostosis, Abno... ORPHA:330015
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Rickets, Elevated circulating aspartate aminotransferase concentration,... ORPHA:2088
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... ORPHA:911
Methylmalonic Aciduria, Cbla Type
Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:251100
Aplastic anemia, Pure red cell aplasia, Leukemia, Imbalanced hemoglobin synthesis, Rheumatoid art... ORPHA:99867
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Neutropenia OMIM:618253
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia, Intrauterine growth retardation, Short stature, Osteopenia, Joint contracture OMIM:618005
Trichothiodystrophy 3, Photosensitive
Short stature, Intrauterine growth retardation, Lymphopenia, Neutropenia OMIM:616395
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Short stature, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossification, ... OMIM:300554
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leukopenia, Anemia, ... OMIM:612541
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, S... ORPHA:124
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Joint stiffness, Abnormal hemoglobin, Anemia, Death in infancy, Short stature, Flexion contracture ORPHA:847
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Growth del... OMIM:600081
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... OMIM:241530
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased proportion of CD4-positive helper T cells, Growth delay, Reduced natural killer cell co... OMIM:243700
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Delayed puberty, Gout, Pancreatitis, Osteoporosis, Hepatomegaly, Elevat... OMIM:232220
Cohen Syndrome
Delayed puberty, Leukopenia, Short stature, Joint hypermobility, Neutropenia OMIM:216550
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Osteomyelitis, Cutaneous abscess, Sterile abscess, Joint hypermobility OMIM:618282
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Intrauterine growth retardation, Short stature, Fused cervical verte... OMIM:609053
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Short stature, Osteomalacia, Coarse metaphyseal trabecularization, Bone cyst, Recurre... ORPHA:93160
Immunodeficiency 23
Hemolytic anemia, Abscess, Lymphopenia, Eosinophilia, Joint hypermobility, Neutropenia OMIM:615816
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Chronic neutropenia, Autoimmune thrombocyt... OMIM:614700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Pathologic fracture, Short stature, Osteomalacia, Hypophosphatemic ... ORPHA:157215
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Intrauterine growth retardation, Reticulocytopenia, Macrocytic anemi... OMIM:105650
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Hemolytic anemia, Short stature, Osteomalacia, Increased s... ORPHA:18
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Infe... ORPHA:445038
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Severe B lymphocytopenia... OMIM:102700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eosinophilia, B lymphocytopenia, Abnormally low... OMIM:602450
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, B lymphocytopenia, Osteomyelitis, Neutropenia OMIM:301081
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Microcytic anemia, Neutropenia OMIM:251900
Fanconi Renotubular Syndrome 2
Rickets, Short stature, Osteomalacia, Osteopenia, Recurrent fractures OMIM:613388
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, ... ORPHA:3261
Poikiloderma With Neutropenia
Leukopenia, Joint stiffness, Short stature, Joint laxity, Growth delay, Splenomegaly, Neutropenia OMIM:604173
Sepsis In Premature Infants
Jaundice, Leukocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Decreased liver function, Splenom... ORPHA:90051
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Viral hepatitis, Neutropenia OMIM:209920
Infantile Systemic Hyalinosis
Camptodactyly of finger, Severe short stature, Joint stiffness, Osteoporosis, Osteomalacia, Osteo... ORPHA:2176
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Growth delay OMIM:602722
Necrotizing Enterocolitis
Peritonitis, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Hepatitis, Neutropenia, Osteomyelitis, Eosinophilia ORPHA:1163
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Growth del... OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Short stature, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, In... ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Growth del... OMIM:277440
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hepatomegaly, Reduced natural killer cell count, Thr... OMIM:608233
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Severe short stature, Joint stiffness, Osteoporosis, Osteomalacia, Osteopenia, Joint hyp... ORPHA:1901
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Osteopenia, Eosinophilia, Osteomyelitis, Joint hyperflexibility, Recurrent frac... ORPHA:2314
Dent Disease 1
Rickets, Short stature, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, Re... OMIM:300009
Fanconi Renotubular Syndrome 3
Rickets, Short stature, Growth delay OMIM:615605
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Rickets, Delayed puberty, Portal hypertension, Short stature ORPHA:213
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular carcinoma, Abnormal myeloid leukocyte morphology, Delayed puberty, Hepatocellular ... ORPHA:79259
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteoarthritis, Short stature, Osteomalacia, Hypophosphatemic rickets OMIM:307800
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Neutropenia, Septic arthritis, B lymphoc... OMIM:300755
Saul-Wilson Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neutropenia OMIM:618150
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Generalized bone demineralization ORPHA:199299
Rothmund-Thomson Syndrome
Reduced bone mineral density, Aplastic anemia, Anemia, Leukemia, Short stature, Osteopenia, Abnor... ORPHA:2909
Khan-Khan-Katsanis Syndrome
Anemia, Intrauterine growth retardation, Short stature, Lymphopenia, Joint contracture, Neutropenia OMIM:618460
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Vacuolated lymphocytes, Jaundice, Hemophagocytosis, Anemia, Elevated hepatic ... ORPHA:167
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Cholangitis, Myeloproliferative disorder, Leukocytosis, Chronic hepatitis, An... ORPHA:3260
Peritonitis, Lung abscess, Abnormality of the liver, Granuloma, Lymphopenia, Arthritis, Osteomyel... ORPHA:228119
Pearson Syndrome
Hypoplastic spleen, Reticulocytosis, Abnormality of the liver, Anemia, Bone marrow hypocellularit... ORPHA:699
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Short s... ORPHA:289176
Fanconi Renotubular Syndrome 1
Rickets, Short stature, Osteomalacia OMIM:134600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Growth delay, Hypochromic microcytic anemia, ... OMIM:301040
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Fibrous Dysplasia Of Bone
Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Pa... ORPHA:249
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Juvenile rheumatoid arthritis, Short stature, Lymphopenia, T lymphoc... OMIM:607944
Hypercholanemia, Familial 1
Rickets OMIM:607748
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Osteomalacia, Arthritis, Hepatitis, Decreased proporti... OMIM:619381
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hepatomegaly, Short stature, Elevated hepatic transaminase OMIM:616026
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphocytosis ORPHA:139402
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Rothmund-Thomson Syndrome Type 2
Synostosis involving bones of the upper limbs, Aplastic anemia, Anemia, Pathologic fracture, Leuk... ORPHA:221016
Neu-Laxova Syndrome
Rickets, Arthrogryposis multiplex congenita, Osteoporosis, Intrauterine growth retardation, Osteo... ORPHA:2671
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Anemia, Leukemia, Finger symphalangism, Short stature, Osteopenia, Abnormal trab... ORPHA:221008
Fanconi-Bickel Syndrome
Rickets, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration,... OMIM:227810
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Cartilage-Hair Hypoplasia
Limited elbow extension, Anemia, Rhizomelia, Hepatomegaly, Disproportionate short-limb short stat... ORPHA:175
Craniosynostosis, Increased bone mineral density, Increased mean corpuscular hemoglobin concentra... ORPHA:33364
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:37042
Toxic Epidermal Necrolysis
Acute hepatic failure, Anemia, Pancreatitis, Elevated hepatic transaminase, Thrombocytopenia, Neu... ORPHA:537
Leigh Syndrome
Anemia, Intrauterine growth retardation, Multiple joint contractures, Growth delay, Hepatic failu... ORPHA:506
X-Linked Hypophosphatemia
Rickets, Craniosynostosis, Reduced bone mineral density, Generalized osteosclerosis, Enthesitis, ... ORPHA:89936
Cohen Syndrome
Delayed puberty, Intrauterine growth retardation, Short stature, Joint hyperflexibility, Neutropenia ORPHA:193
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Elevated hepatic transaminase, Neutropenia OMIM:615471
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Short stature, Recurrent fractures OMIM:268315
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Megaloblastic anemia, Intrauterine growth retardation, Thrombocytopenia, Growth delay, ... ORPHA:79282
Hypophosphatemic Rickets
Rickets, Craniofacial osteosclerosis, Fibrous dysplasia of the bones, Joint stiffness, Enthesitis... ORPHA:437
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Death in infancy, Neonatal death, Growth delay, Neutropenia OMIM:617248
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Limited elbow extension, Laryngotracheomalacia, Rhizomelia, Delayed ossification of carpal bones,... OMIM:271510
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... OMIM:301000
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Delayed puberty, Gout, Hepatomegaly, Hepatoblasto... OMIM:232240
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Joint stiffness, Anemia, Death in infancy, Short stature, Osteomalacia, Arthriti... ORPHA:534
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Short stature, Hypophosphatemic rickets OMIM:612089
Arthritis, Abnormal eosinophil morphology ORPHA:221
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Death in infancy, Short stature, Eosinophilia, Carpal s... OMIM:274000
Kikuchi-Fujimoto Disease
Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Lymphocytosis,... ORPHA:50918
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Dent Disease
Rickets, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractur... ORPHA:1652
Occipital Horn Syndrome
Rickets, Jaundice, Osteolysis, Cholestasis, Osteoporosis, Synostosis of joints, Osteomalacia, Ost... ORPHA:198
Eosinophilic Granulomatosis With Polyangiitis
Arthritis, Eosinophilia ORPHA:183
Cystinosis, Nephropathic
Rickets, Delayed puberty, Hepatomegaly, Short stature, Hypophosphatemic rickets, Growth delay, Sp... OMIM:219800
Vici Syndrome
Leukopenia, Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Peritonitis, Osteolysis, Abnormality of the liver, Abscess, Pancreatitis, Granuloma, Arthritis, E... ORPHA:228123
Whim Syndrome
Abnormality of neutrophil morphology, Lymphopenia, Neutropenia ORPHA:51636
Leukopenia, Abnormal liver parenchyma morphology, Hemolytic anemia, Anemia, Hepatomegaly, Eosinop... ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 54
Growth delay, Short stature, Neutropenia OMIM:617799
Cushing Disease
Decreased eosinophil count, Osteoporosis, Leukocytosis, Lymphopenia ORPHA:96253
Incontinentia Pigmenti
Camptodactyly of finger, Osteolysis, Short stature, Eosinophilia ORPHA:464
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Incontinentia Pigmenti
Leukocytosis, Short stature, Eosinophilia OMIM:308300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Severe short stature, Osteoporosis, Intrauterine growth retardation, Osteomalacia, Osteo... ORPHA:2636
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Osteomalacia OMIM:600740
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Eosinophilia, Abnormal pancreas morphology ORPHA:449432
Igg4-Related Pachymeningitis
Pancreatitis, Eosinophilia ORPHA:449427
Peritonitis, Osteolysis, Pancreatitis, Hepatitis, Splenic abscess, Brain abscess, Neutropenia ORPHA:73263
Vacuolated lymphocytes, Pathologic fracture, Hepatomegaly, Short stature, Joint laxity, Neutropenia OMIM:208400
Sponastrime Dysplasia
Limited elbow extension, Generalized joint laxity, Rhizomelia, Intrauterine growth retardation, D... ORPHA:93357
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Infantile Nephropathic Cystinosis
Rickets, Growth delay ORPHA:411629
Lowe Oculocerebrorenal Syndrome
Rickets, Camptodactyly of finger, Pathologic fracture, Short stature, Osteomalacia, Joint hypermo... OMIM:309000
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia, Growth delay ORPHA:3337
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Osteoporosis, Decreased eosinophil count, Lymphopenia, Pancreatic adenocarcinoma, P... ORPHA:99889
Igg4-Related Ophthalmic Disease
Cholangitis, Pancreatitis, Retroperitoneal fibrosis, Eosinophilia ORPHA:449563
Igg4-Related Kidney Disease
Pancreatitis, Retroperitoneal fibrosis, Abnormality of mesentery morphology, Eosinophilia, Cholec... ORPHA:449395
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Osteomalacia ORPHA:405
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Neutropenia, Elevated hepatic transaminase, Anemia ORPHA:95455
Generalized Arterial Calcification Of Infancy
Pancreatic calcification, Abnormal calcification of the carpal bones, Hepatic calcification, Oste... ORPHA:51608
Tropical Endomyocardial Fibrosis
Hepatomegaly, Splenomegaly, Eosinophilia ORPHA:75565
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Joint hypermobility ORPHA:500166


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 Sin3b

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 Sin3b.

No publications found that use IMPC mice or data for Sin3b.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Sin3btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sin3btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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