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
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Anemia, Short stature, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E Disease
Intrauterine growth retardation, Splenomegaly, Miscarriage, Increased red blood cell count, Abnor... ORPHA:2133
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... 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, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia, Neonatal death OMIM:257100
Fanconi Anemia, Complementation Group G
Leukemia, Growth delay, Neutropenia, Anemia, Thrombocytopenia OMIM:614082
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Neutropenia, Anemia, Splenomegaly OMIM:602079
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Diamond-Blackfan Anemia 4
Growth delay, Neutropenia, Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnormal hemogl... ORPHA:848
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Short stature OMIM:616022
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Short stature ORPHA:90023
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, ... OMIM:618849
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Diamond-Blackfan Anemia 8
Growth delay, Neutropenia, Short stature, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Growth delay, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Short stature, Erythroi... OMIM:615631
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Short stature, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular ... OMIM:611590
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Intrauterine growth retardation, Neutropenia, Anemia, Short stature, Gout OMIM:617056
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Hemochromatosis, Type 3
Neutropenia, Anemia, Elevated hepatic transaminase, Cirrhosis, Lymphopenia, Arthritis OMIM:604250
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Beta-Thalassemia Intermedia
Osteoporosis, Persistence of hemoglobin F, Cholelithiasis, Decreased liver function, Jaundice, Er... ORPHA:231222
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Immunodeficiency 55
Postnatal growth retardation, Short stature, Neutropenia, Intrauterine growth retardation OMIM:617827
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Neutropenia, Anemia, Short stature, Thrombocytopenia OMIM:617243
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Death in infancy, Thrombocytopenia, Anemia OMIM:619302
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Eosinophilia, Lymphopenia, Arthritis ORPHA:2582
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Neutropenia, Anemia, Radioulnar synostosis, Limited pronation/supination of for... OMIM:616738
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Short stature OMIM:610798
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 88
Eosinophilia OMIM:619630
Decreased eosinophil count OMIM:131430
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Rickets of the lower limbs, Hepatocellular car... ORPHA:882
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, Prolonged neonatal... OMIM:224120
Specific Granule Deficiency 2
Osteopenia, Death in childhood, Neutropenia, Anemia, Absent neutrophil specific granules, Death i... OMIM:617475
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
3-Methylglutaconic Aciduria, Type Viib
Neutropenia, Growth delay OMIM:616271
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Growth delay, Polycythemia OMIM:250800
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Tooth abscess, Osteomalacia, Iron deficiency anemia, Rickets ORPHA:89937
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Arthritis ORPHA:3165
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Growth delay, Anemia, Arthritis OMIM:607115
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Death in infancy, Thrombocytopenia OMIM:619301
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Short stature, Radioulnar synostosis, Anemia of... OMIM:614900
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Osteopenia, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepato... OMIM:211600
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Sple... ORPHA:158057
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia, Short stature, Elevated hepatic transaminase, Exocrine pancreatic insufficiency OMIM:618752
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Decreased liver function, Anemia, Neonatal death, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Decreased liver function, Anemia, Neonatal death, Death in infancy OMIM:618839
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hy... OMIM:603554
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Neutropenia, Intrauterine growth retardation ORPHA:2643
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia, Hepatomegaly OMIM:251900
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Hemophagocytosis, Elevated circulati... ORPHA:158061
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Fetal Gaucher Disease
Pancytopenia, Flexion contracture, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Arthrog... ORPHA:85212
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hepatic failure, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Aplasti... OMIM:308240
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Methylcobalamin Deficiency Type Cble
Pancytopenia, Abnormality of the liver, Intrauterine growth retardation, Osteoporosis, Neutropeni... ORPHA:2169
Fanconi Anemia, Complementation Group C
Pancytopenia, Flexion contracture, Intrauterine growth retardation, Leukemia, Bone marrow hypocel... OMIM:227645
Dominant Beta-Thalassemia
Hypersplenism, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Cirrhosis... ORPHA:231226
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Acute myeloid leukemia, Hepatomegaly, Irregular ... OMIM:260400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Neonatal Lupus Erythematosus
Pancytopenia, Hepatic failure, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Immunodeficiency 7
Hypereosinophilia OMIM:615387
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Death in infancy, Growth delay OMIM:617248
Beta-Thalassemia Major
Hypersplenism, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Cirrhosis... ORPHA:231214
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Wilson Disease
Hepatic failure, Osteoporosis, Hepatomegaly, Osteoarthritis, Osteomalacia, Atypical or prolonged ... OMIM:277900
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Neutropenia, Intrauterine growth retardation OMIM:251190
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Diamond-Blackfan Anemia 6
Tracheomalacia, Growth delay, Increased mean corpuscular volume, Macrocytic anemia, Persistence o... OMIM:612561
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abnormality, ... ORPHA:79168
Diamond-Blackfan Anemia 5
Leukopenia, Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612528
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Limitation of joint mobility, Spleno... ORPHA:47612
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic a... ORPHA:288
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anemia, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Anemia, Short stature, Prolonged G2 phase of cell cycle, Ret... OMIM:600901
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Craniosynostosis, Osteopenia, Recurrent fractures, Cutaneous abscess, Joint hypermo... OMIM:147060
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Propionic Acidemia
Pancytopenia, Osteoporosis, Hepatomegaly, Neutropenia, Anemia, Short stature, Pancreatitis, Throm... OMIM:606054
Schimke Immunoosseous Dysplasia
Osteopenia, Intrauterine growth retardation, Disproportionate short-trunk short stature, Thromboc... OMIM:242900
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Thrombocytopenia OMIM:246400
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Short stature, Prolonged G2 phase of cell cycle, Ret... OMIM:227650
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Short stature, Flexion contracture, HbH hemoglobin ORPHA:98791
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Intrauterine growth retardation, Delayed proximal femoral epiph... ORPHA:353298
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Diamond-Blackfan Anemia 7
Osteopenia, Intrauterine growth retardation, Osteoporosis, Growth delay, Neutropenia, Increased m... OMIM:612562
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Roifman Syndrome
Eosinophilia, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature, Hip con... OMIM:616651
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Neutropenia, Anemia, Short stature, Osteomyelitis, Hepatit... ORPHA:47
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Thrombocytopenia, Growth delay, Hepatomegaly, Neutropenia,... OMIM:612541
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Cyclic Neutropenia
Decreased eosinophil count, Peritonitis, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Per... ORPHA:2686
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Thrombocytopenia, Growth delay OMIM:614857
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Barth Syndrome
Neutropenia, Granulocytopenia, Growth delay OMIM:302060
Lichtenstein Syndrome
Neutropenia, Increased susceptibility to fractures, Osteoporosis OMIM:246550
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Short stature, Increased mean corpuscular volume, Elevated hepatic transami... ORPHA:98870
Pelger-Huet Anomaly
Giant platelets, Mild short stature, Abnormality of neutrophils, Neutropenia, Hyposegmentation of... OMIM:169400
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Short stature, Hepatic cysts OMIM:618999
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia ORPHA:79477
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leukemia, Neutropenia, Aplastic an... ORPHA:486
Whim Syndrome 1
Neutropenia OMIM:193670
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Saul-Wilson Syndrome
Postnatal growth retardation, Short stature, Neutropenia, Intrauterine growth retardation OMIM:618150
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Neutropen... ORPHA:292
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Joint hypermobility OMIM:618282
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia OMIM:212050
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia ORPHA:39041
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Congenital hypoplastic anemia, Impaired lymphocyte transformat... OMIM:250250
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Osteoporosis, Growth delay, Osteomalacia, Iron deficiency anem... ORPHA:309031
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Megaloblastic anemia, Growth delay, Neutropenia, Reduced number ... ORPHA:79284
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Osteoporosis, Iron deficiency anemia, Short stature, Elevated hepatic transaminas... OMIM:212750
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Chronic hepatitis, Splenomegaly, Hepatomegaly, Neutropenia, Hemolytic ane... OMIM:308230
Kimura Disease
Eosinophilia ORPHA:482
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, Th... ORPHA:811
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Growth delay, Jaundice, Hepatomegaly... ORPHA:1667
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Flexion contracture OMIM:253600
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Autoimmune throm... ORPHA:572
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Craniosynostosis, Joint contracture of the hand OMIM:618523
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:614520
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Neut... OMIM:617941
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hepatic steatosis, Portal hypertension, Intrauterine growth retardation, Cholestasi... OMIM:613658
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Decreased liver function, Jaundice, Hepatomegaly, Neutropenia, An... ORPHA:540
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... ORPHA:158048
Transcobalamin Ii Deficiency
Pancytopenia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:275350
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Wells Syndrome
Eosinophilia ORPHA:901
Cystic Echinococcosis
Eosinophilia, Abnormality of the pancreas, Biliary tract obstruction, Hepatomegaly, Jaundice, Bon... ORPHA:400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cholangitis, Cutaneous ab... ORPHA:284
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Increased susceptibility to fractures, Joint hypermobility, Neutropenia, Lymph... OMIM:619752
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Eosinophilia ORPHA:2070
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase, Polycythemia, Cirrhosis OMIM:613280
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Bone marrow hypocellularity, Flexion contracture, Splenomegaly, Hepatomegaly, Death i... OMIM:617303
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Rhizomelic arm shortening, Thrombocytopenia, Neutropenia... ORPHA:508542
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Neutropenia, Anemia, Short stature, Prolonge... OMIM:227646
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Mccune-Albright Syndrome
Pancytopenia, Bone marrow hypocellularity, Cholestasis, Fibrous dysplasia of the bones, Recurrent... ORPHA:562
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Leukopenia, Bone m... ORPHA:443811
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... OMIM:619705
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Growth delay OMIM:617388
Hypophosphatemic Bone Disease
Short stature, Rickets, Osteomalacia OMIM:146350
Axial Osteomalacia
Polycystic liver disease, Increased bone mineral density, Osteomalacia OMIM:109130
Schimke Immuno-Osseous Dysplasia
Intrauterine growth retardation, Bone marrow hypocellularity, Abnormal proportion of naive CD4 T ... ORPHA:1830
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Hepatitis, Lympho... ORPHA:169160
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Osteopenia, Elevate... ORPHA:2088
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Leukemia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Aplastic anemia, Pure red cell a... ORPHA:99867
Autosomal Agammaglobulinemia
Neutropenia, Osteomyelitis, Hepatitis, Arthritis ORPHA:33110
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Joint stiffness, Anemia, Short stature, Abnormal hemoglobin, Death in infancy ORPHA:847
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Growth delay, Elevated ... ORPHA:124
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Flexion contracture, Intrauterine growth retardation, Neutropenia, Short stature OMIM:618005
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Short stature, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin OMIM:141750
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absen... ORPHA:911
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Delayed ossification of carpal bones, Disproportionate short stature, Lymphopenia, ... OMIM:617425
Retinal Venous Beading
Neutropenia OMIM:180080
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Hepatic hema... ORPHA:2330
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Growth delay, Thin bony cortex, Delayed epiphyseal o... OMIM:600081
Fanconi Renotubular Syndrome 2
Short stature, Osteopenia, Rickets OMIM:613388
Trichothiodystrophy 3, Photosensitive
Neutropenia, Short stature, Lymphopenia, Intrauterine growth retardation OMIM:616395
Glycogen Storage Disease Ib
Osteoporosis, Hepatomegaly, Neutropenia, Short stature, Elevated hepatic transaminase, Pancreatit... OMIM:232220
Cohen Syndrome
Leukopenia, Joint hypermobility, Neutropenia, Short stature, Delayed puberty OMIM:216550
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277380
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Intrauterine growth retardation, Neutropenia, Short stature, Fused c... OMIM:609053
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Growth delay, Reduced natural ... OMIM:243700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Growth delay, Thin bony co... OMIM:241530
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Osteomalacia, Short stature, Bone cyst, Osteolysis,... ORPHA:93160
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Growth delay, Osteomalacia, Short stature, Hemolytic anemi... ORPHA:18
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Growth delay, Osteomalacia, Short stature, Pathologic fracture, Reduced... ORPHA:157215
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Bone marrow hypocellularity, Growth delay, Neutropenia, Elevated hepatic trans... ORPHA:445038
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Joint hypermobility, Hemolytic anemia, Lymphopenia OMIM:615816
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Viral hepatitis, Biliary tract abnormality, Cholangitis OMIM:209920
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia, Arthritis OMIM:608809
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Poikiloderma With Neutropenia
Leukopenia, Joint stiffness, Joint laxity, Splenomegaly, Growth delay, Neutropenia, Short stature OMIM:604173
Infantile Systemic Hyalinosis
Osteopenia, Joint stiffness, Recurrent fractures, Severe short stature, Osteoporosis, Growth dela... ORPHA:2176
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Decreased liver function, Jaundice, Hepatomegaly, Neutropenia, Anemia... ORPHA:90051
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Hepatocellular carcinoma, Coombs-positive hemolytic an... ORPHA:3261
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Growth delay, HbH hemoglobin, Postnatal growth retardation, Reduced alpha/beta synthesis ratio, H... OMIM:301040
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent platelet dense granules, Splenomegaly, Hepato... OMIM:608233
Fanconi Renotubular Syndrome 3
Short stature, Growth delay, Rickets OMIM:615605
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Thrombocytopenia, Peritonitis ORPHA:391673
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Sparse bone trabeculae, Recurrent fractures, Growth delay, Thin bony cortex, Delayed epiphyseal o... OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets
Sparse bone trabeculae, Increased susceptibility to fractures, Osteomalacia, Thin bony cortex, Sh... ORPHA:289157
Neutropenia, Eosinophilia, Hepatitis, Osteomyelitis ORPHA:1163
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Hepatomegaly, Rickets OMIM:560000
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Craniosynostosis, Osteopenia, Recurrent fractures, Osteomyelitis, Joint hyperflexib... ORPHA:2314
Dent Disease 1
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Short stature, Delay... OMIM:300009
Fanconi Renotubular Syndrome 1
Short stature, Rickets, Osteomalacia OMIM:134600
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Miscarriage, Anemia, Delayed puberty, Abno... ORPHA:330015
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint stiffness, Severe short stature, Osteoporosis, Osteomalacia, Joint hyperflexibi... ORPHA:1901
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Osteopenia, Chronic neutropenia, Increased hepatic glycogen content, Osteoporo... ORPHA:79259
Vitamin D-Dependent Rickets, Type 2A
Sparse bone trabeculae, Recurrent fractures, Growth delay, Thin bony cortex, Delayed epiphyseal o... OMIM:277440
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Agammaglobulinemia, X-Linked
T lymphocytopenia, Neutropenia, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Septic arthr... OMIM:300755
Short stature, Delayed puberty, Portal hypertension, Rickets ORPHA:213
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Generalized bone demineralization, Hepatitis, Macrocytic anemia ORPHA:199299
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytosis, Splenomegaly, Decreas... ORPHA:167
Rothmund-Thomson Syndrome
Osteopenia, Leukemia, Abnormal trabecular bone morphology, Increased susceptibility to fractures,... ORPHA:2909
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Pancreatic cysts, Anemia, Shor... OMIM:274000
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Myelofibrosis, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chron... ORPHA:3260
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Reticulocytosis, Exocrine pancreatic insufficiency, Hepatic fai... ORPHA:699
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly, Hepatomegaly OMIM:617050
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Sclerosis of skull base, Neutropenia, Rheumatoid ... OMIM:607944
Abnormality of the liver, Lung abscess, Arthritis, Peritonitis, Neutropenia, Osteomyelitis, Granu... ORPHA:228119
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Hypophosphatemic rickets, Osteoarthritis, Osteomalacia OMIM:307800
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Fibrous Dysplasia Of Bone
Cortical irregularity, Fibrous dysplasia of the bones, Abnormal bone structure, Osteomalacia, Thi... ORPHA:249
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Elevated hepatic transaminase, Hepatomegaly, Rickets OMIM:616026
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell... OMIM:105650
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Acute hepatic failure, Hepatitis, Elevated hepatic transaminase, Lymphocytosis ORPHA:139402
Neu-Laxova Syndrome
Flexion contracture, Intrauterine growth retardation, Osteopenia, Osteoporosis, Osteomalacia, Art... ORPHA:2671
Cartilage-Hair Hypoplasia
Abnormality of the pancreas, Rhizomelia, Hepatomegaly, Abnormal bone ossification, Neutropenia, A... ORPHA:175
Hypercholanemia, Familial 1
Rickets OMIM:607748
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Lymphocytosis OMIM:258360
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Osteopenia, Leukemia, Abnormal trabecular bone morphology, Growth delay, Ne... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Osteopenia, Leukemia, Abnormal trabecular bone morphology, Growth delay, Ne... ORPHA:221008
Craniosynostosis, Osteopenia, Multiple joint contractures, Intrauterine growth retardation, Incre... ORPHA:33364
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Elevated hepatic transaminase, Growth delay OMIM:615471
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Autoimmune hemol... ORPHA:37042
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Anemia, Short stature, Acute myeloid leukemia OMIM:601347
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Growth delay, ... ORPHA:89936
Toxic Epidermal Necrolysis
Neutropenia, Anemia, Acute hepatic failure, Elevated hepatic transaminase, Pancreatitis, Thromboc... ORPHA:537
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Leigh Syndrome
Hepatic failure, Intrauterine growth retardation, Multiple joint contractures, Growth delay, Neut... ORPHA:506
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:277400
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Osteomalacia, Anemia, Ost... OMIM:619381
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Intrauterine growth retardation, Megaloblastic anemia, Growth delay, Jaundice, Neutropenia, Throm... ORPHA:79282
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Delayed ossification of carpal bones, Laryngotracheomalacia, Neutropenia, Limited elb... OMIM:271510
Netherton Syndrome
Hypereosinophilia OMIM:256500
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Cohen Syndrome
Intrauterine growth retardation, Neutropenia, Short stature, Joint hyperflexibility, Delayed puberty ORPHA:193
Von Hippel-Lindau Syndrome
Abnormality of the liver, Neoplasm of the pancreas, Pancreatic cysts, Polycythemia OMIM:193300
Hypophosphatemic Rickets
Periapical tooth abscess, Joint stiffness, Fibrous dysplasia of the bones, Craniofacial osteoscle... ORPHA:437
Hypophosphatemic Rickets And Hyperparathyroidism
Short stature, Hypophosphatemic rickets, Rickets OMIM:612089
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Craniosynostosis, Hypereosinophilia, Decreased proportion of CD4-positive help... ORPHA:508533
Oculocerebrorenal Syndrome Of Lowe
Joint stiffness, Recurrent fractures, Osteomalacia, Anemia, Short stature, Death in infancy, Join... ORPHA:534
Abnormal eosinophil morphology, Arthritis ORPHA:221
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, B lymphocytopenia, Rectal abscess OMIM:601495
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Elevated hepatic transaminase, Lymph... ORPHA:50918
Stiff neck, Hypereosinophilia ORPHA:74
Dent Disease
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal o... ORPHA:1652
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hypophosphatemic rickets, Splenomegaly, Growth delay, Hepatome... OMIM:219800
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Arthritis ORPHA:183
Occipital Horn Syndrome
Osteopenia, Cholestasis, Osteoporosis, Jaundice, Osteomalacia, Hepatitis, Osteolysis, Synostosis ... ORPHA:198
Whim Syndrome
Neutropenia, Abnormality of neutrophil morphology, Lymphopenia ORPHA:51636
Eosinophilia, Abnormality of the liver, Peritonitis, Osteomyelitis, Granuloma, Abnormality of the... ORPHA:228123
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Cushing Disease
Leukocytosis, Lymphopenia, Osteoporosis, Decreased eosinophil count ORPHA:96253
Eosinophilia, Hepatic failure, Leukopenia, Portal hypertension, Increased T cell count, Decreased... ORPHA:797
Incontinentia Pigmenti
Eosinophilia, Short stature, Leukocytosis OMIM:308300
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Incontinentia Pigmenti
Eosinophilia, Short stature, Osteolysis, Camptodactyly of finger ORPHA:464
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Intrauterine growth retardation, Severe short stature, Osteoporosis, Osteomalacia, Ab... ORPHA:2636
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Pancreatitis OMIM:600740
Igg4-Related Pachymeningitis
Eosinophilia, Pancreatitis ORPHA:449427
Vacuolated lymphocytes, Joint laxity, Hepatomegaly, Neutropenia, Short stature, Pathologic fracture OMIM:208400
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Eosinophilia, Abnormal pancreas morphology, Cholangitis ORPHA:449432
Sponastrime Dysplasia
Intrauterine growth retardation, Rhizomelia, Joint laxity, Generalized joint laxity, Neutropenia,... ORPHA:93357
Peritonitis, Neutropenia, Hepatitis, Osteolysis, Pancreatitis, Splenic abscess, Brain abscess ORPHA:73263
Lowe Oculocerebrorenal Syndrome
Joint hypermobility, Osteomalacia, Short stature, Pathologic fracture, Camptodactyly of finger, R... OMIM:309000
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Infantile Nephropathic Cystinosis
Growth delay, Rickets ORPHA:411629
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Recurrent cutaneous abscess formation ORPHA:163956
Igg4-Related Kidney Disease
Eosinophilia, Sclerosing cholangitis, Cholecystitis, Decreased liver function, Retroperitoneal fi... ORPHA:449395
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Growth delay, Osteomalacia ORPHA:3337
Lymphatic Filariasis
Knee osteoarthritis, Hypereosinophilia ORPHA:2035
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Decreased eosinophil count, Osteoporosis, Pancreatic adenocarcinoma, Lymphopenia, P... ORPHA:99889
Igg4-Related Ophthalmic Disease
Retroperitoneal fibrosis, Eosinophilia, Pancreatitis, Cholangitis ORPHA:449563
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Pancreatitis ORPHA:405
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Neutropenia, Anemia, Elevated hepatic transaminase ORPHA:95455
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Pancreatic ca... ORPHA:51608
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly, Hepatomegaly 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.

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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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