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Gene: Sin3b MGI:107158

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transcriptional regulator, SIN3B (yeast)
Synonyms:
2810430C10Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
phenotypes		 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
phenotypes		 Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia ORPHA:3319
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia 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
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Fanconi Anemia, Complementation Group G
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Diamond-Blackfan Anemia 4
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia OMIM:612527
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... ORPHA:232
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
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
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner... ORPHA:848
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy OMIM:619302
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia OMIM:612563
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Intrauterine growth retardation,... OMIM:619751
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor... OMIM:611590
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Gout, Neutropenia, Intrauterine growth retardation, Anemia OMIM:617056
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Hemochromatosis, Type 3
Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... OMIM:616738
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia OMIM:610798
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619301
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Immunodeficiency 88
Eosinophilia OMIM:619630
Fanconi Anemia, Complementation Group V
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... ORPHA:882
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Death in infancy, Anemia, Death in childhood, Ne... OMIM:617475
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Growth delay, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Methemoglobinemia, Polycythemia OMIM:250800
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Growth delay, Iron deficiency anemia, Tooth abscess ORPHA:89937
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Eosinophilic Fasciitis
Arthritis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Growth delay, Arthritis, Anemia OMIM:607115
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocyt... OMIM:301078
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Splenom... OMIM:211600
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:601859
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Short stature, Neutropenia OMIM:618752
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia OMIM:618839
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Neutropenia ORPHA:2643
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... ORPHA:398124
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, Abnormality of the l... ORPHA:2169
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Flexion co... ORPHA:85212
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Arthritis, Coombs-positive hemolyti... OMIM:304790
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Flexion contracture, Prolonged G2 phase of cell cycle, Reticulocytop... OMIM:227645
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Short stature,... OMIM:260400
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... OMIM:150550
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Increased mean corpuscular volume, ... OMIM:612561
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Cholestasis, Anemia, Decreased liver function, Camptodactyly, Neo... OMIM:608104
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... OMIM:224120
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:603909
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Osteoporosis, Anemia, Neutropenia, Pancreatitis, Throm... OMIM:606054
Felty Syndrome
Hepatomegaly, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthriti... ORPHA:47612
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... OMIM:308240
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutrop... OMIM:600901
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Joint hypermobility, Pancre... OMIM:617052
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hypermobility, Cutaneous a... OMIM:147060
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Fanconi Anemia, Complementation Group A
Pancytopenia, Short stature, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutrop... OMIM:227650
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Growth delay, Increased mean corpuscular volume, Neu... OMIM:612562
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Short stature, Microcytic anemia ORPHA:98791
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Tooth... ORPHA:2686
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Roifman Syndrome
Hip contracture, Hepatomegaly, Short stature, Eosinophilia, Postnatal growth retardation, Splenom... OMIM:616651
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Short stature, Hepatitis, Anemia, Arthritis... ORPHA:47
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Whim Syndrome 1
Neutropenia OMIM:193670
Roifman Syndrome
Hip contracture, Short stature, Eosinophilia, Postnatal growth retardation, Delayed proximal femo... ORPHA:353298
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of ... ORPHA:171
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... ORPHA:486
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone ma... OMIM:613989
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Diamond-Blackfan Anemia 11
Short stature, Anemia of inadequate production, Radioulnar synostosis, Bone marrow hypocellularit... OMIM:614900
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Death in infancy, Short stature, Death in childhood, Neutropenia... OMIM:617941
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia ORPHA:79477
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr... ORPHA:98870
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Postnatal growth retardation, Os... OMIM:212750
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatosplenomegaly, Hepatic cysts OMIM:618999
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Short stature, Joint hypermobility OMIM:617101
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, HbH hemoglobin, Short stature, Prolonged neonatal jaundice ORPHA:423479
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Eosinophilia, Craniosynostosis OMIM:618523
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leukopenia, Neutrop... ORPHA:292
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Grow... ORPHA:1667
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Growth delay, Iron deficiency anemia, Exocrine pancreatic in... ORPHA:309031
Abcd Syndrome
Neonatal death, Polycythemia OMIM:600501
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Growth delay, Reduced number of intrahepatic bile ducts, Neutropenia, Intra... ORPHA:79284
Kimura Disease
Eosinophilia ORPHA:482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Eosinophilia OMIM:253600
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P... ORPHA:811
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Short stature, Elevated hepatic transam... OMIM:613658
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Wilson Disease
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Osteomalacia, Joint hypermobility, Elevate... OMIM:277900
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Disproportionate short-trunk short stature, Abnormal T cell morphology,... OMIM:242900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Anemia, Cholestatic liver di... ORPHA:540
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Short stature, Osteomalacia, Rickets OMIM:193100
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... ORPHA:400
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Abse... OMIM:250250
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia OMIM:613280
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Hepatitis, Chole... ORPHA:562
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri... OMIM:617827
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Osteoporosis, Rickets, Death in adolescence, Death in childhood OMIM:560000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:251000
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Prolonged G2 phase of cell cycle, Reticulocytopenia, Annular pancrea... OMIM:227646
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp... ORPHA:508542
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangiti... OMIM:308230
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... OMIM:619752
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Flexion contracture, Growth delay, Leukopenia, Neutropenia, Intrauterine growth retar... OMIM:616271
Pgm3-Cdg
Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Short... ORPHA:443811
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Short stature, Megaloblastic anemia, Anemia, Neutropenia, Thrombocyto... OMIM:277380
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Growth delay OMIM:617388
Schimke Immuno-Osseous Dysplasia
Short stature, Thrombocytopenia, Disproportionate short-trunk short stature, Growth delay, Decrea... ORPHA:1830
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... ORPHA:169160
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Death in childhood, Macroves... OMIM:617303
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Death in infancy, Eosinophilia, Disproportionate short stature, Delayed ossification of carpal bo... OMIM:617425
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Rickets OMIM:146350
Axial Osteomalacia
Increased bone mineral density, Polycystic liver disease, Osteomalacia OMIM:109130
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia OMIM:302060
Wells Syndrome
Eosinophilia ORPHA:901
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Peeling Skin Syndrome 1
Short stature, Eosinophilia OMIM:270300
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... ORPHA:2330
Autosomal Agammaglobulinemia
Arthritis, Osteomyelitis, Hepatitis, Neutropenia ORPHA:33110
Lead Poisoning
Miscarriage, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, D... ORPHA:330015
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic ... ORPHA:2088
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... ORPHA:99867
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Neutropenia OMIM:618253
Diamond-Blackfan Anemia
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... ORPHA:124
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Neutropenia, Intrauterine growth retardation, Joint contracture OMIM:618005
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Lymphopenia, Short stature, Neutropenia OMIM:616395
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... OMIM:300554
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:600081
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Short stature, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Anemia ORPHA:847
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hepatocellular c... OMIM:232220
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi... OMIM:243700
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia ORPHA:293173
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:241530
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth dela... ORPHA:18
Cohen Syndrome
Short stature, Neutropenia, Leukopenia, Delayed puberty, Joint hypermobility OMIM:216550
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Eosinophilia, Cutaneous abscess, Joint hypermobility, Sterile abscess OMIM:618282
Fanconi Anemia, Complementation Group I
Short stature, Fused cervical vertebrae, Bone marrow hypocellularity, Neutropenia, Intrauterine g... OMIM:609053
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia, Joint hypermobility OMIM:615816
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Short stature, Osteomalacia, Reduced bone mineral density, Growth delay, Hypophosphatemic rickets... ORPHA:157215
Hypocalcemic Vitamin D-Resistant Rickets
Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure,... ORPHA:93160
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Growth delay, Bone marrow hypocellularity, Infection associated ne... ORPHA:445038
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally lo... OMIM:602450
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Neutropenia, Microcytic anemia OMIM:251900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Poikiloderma With Neutropenia
Joint laxity, Short stature, Joint stiffness, Splenomegaly, Growth delay, Leukopenia, Neutropenia OMIM:604173
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Eosinophilia, Autoimmune thrombocytop... ORPHA:3261
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, Neutropenia... ORPHA:90051
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia OMIM:209920
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o... OMIM:105650
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joi... ORPHA:2176
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Necrotizing Enterocolitis
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia ORPHA:391673
Aspergillosis
Osteomyelitis, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke... ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:277440
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyp... ORPHA:1901
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosynostosis, Joint hyperflexib... ORPHA:2314
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno... OMIM:608233
Dent Disease 1
Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Spars... OMIM:300009
Fanconi Renotubular Syndrome 3
Growth delay, Short stature, Rickets OMIM:615605
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Cystinosis
Short stature, Rickets, Portal hypertension, Delayed puberty ORPHA:213
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatomegaly, Short stature, Chronic neutropenia, Hepatocellular carcinoma, Osteoporo... ORPHA:79259
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, B lymphocytopenia, Neutropeni... OMIM:300755
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Osteomalacia, Osteoarthritis, Rickets, Hypophosphatemic rickets OMIM:307800
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Generalized bone demineralization ORPHA:199299
Saul-Wilson Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neutropenia OMIM:618150
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Short stature, Aplastic anemia, Reduced bone min... ORPHA:2909
Khan-Khan-Katsanis Syndrome
Short stature, Neutropenia, Intrauterine growth retardation, Joint contracture, Lymphopenia, Anemia OMIM:618460
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Spl... ORPHA:167
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocyt... ORPHA:3260
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ... ORPHA:699
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Fusariosis
Brain abscess, Osteomyelitis, Lung abscess, Abnormality of the spleen, Peritonitis, Arthritis, Ab... ORPHA:228119
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Fanconi Renotubular Syndrome 1
Short stature, Osteomalacia, Rickets OMIM:134600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ... OMIM:301040
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Short stature, Rickets OMIM:616026
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Short stature, Osteomalacia, Fibrous dysplasia of the bo... ORPHA:249
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphocytosis ORPHA:139402
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, Hepatitis, T ly... OMIM:619381
Hypercholanemia, Familial 1
Rickets OMIM:607748
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... ORPHA:289176
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Rheumatoi... OMIM:607944
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Postna... OMIM:227810
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short stature, Aplastic anemia, Finger symphalan... ORPHA:221016
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Intrauterine growth retarda... ORPHA:2671
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short stature, Aplastic anemia, Finger symphalan... ORPHA:221008
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocyto... ORPHA:37042
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Rhizomelia, Abnormality of the pancreas, Neutropenia... ORPHA:175
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... ORPHA:33364
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Anemia, Neutropenia, Pancreatitis, Thromboc... ORPHA:537
Leigh Syndrome
Multiple joint contractures, Growth delay, Neutropenia, Intrauterine growth retardation, Hepatic ... ORPHA:506
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Limitation of joint... ORPHA:89936
Cohen Syndrome
Short stature, Neutropenia, Joint hyperflexibility, Delayed puberty, Intrauterine growth retardation ORPHA:193
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Recurrent fractures, Rickets OMIM:268315
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Elevated hepatic transaminase, Neutropenia OMIM:615471
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Jaundice, Growth delay, Neutropenia, Intrauterine growth retardation, Throm... ORPHA:79282
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Rhizomelia, Delayed ossification of carpal bones, Disproportionate short-limb short s... OMIM:271510
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Jaundice, Growth delay, Neutropenia, Neonatal death OMIM:617248
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Thrombocytop... ORPHA:534
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Glycogen Storage Disease Ic
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hepatocellular carcinoma, Gout, Delayed p... OMIM:232240
Dermatomyositis
Arthritis, Abnormal eosinophil morphology ORPHA:221
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Short stature, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly... OMIM:274000
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Short stature, Rickets OMIM:612089
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neu... ORPHA:50918
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Rickets, Osteolysis, Hepatitis, Cholestasis, Jo... ORPHA:198
Cystinosis, Nephropathic
Hepatomegaly, Short stature, Splenomegaly, Rickets, Growth delay, Delayed puberty, Hypophosphatem... OMIM:219800
Eosinophilic Granulomatosis With Polyangiitis
Arthritis, Eosinophilia ORPHA:183
Vici Syndrome
Postnatal growth retardation, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of... OMIM:242840
Coccidioidomycosis
Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Peritonitis, Osteolysis, Arthrit... ORPHA:228123
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis ORPHA:96253
Whim Syndrome
Lymphopenia, Abnormal neutrophil morphology, Neutropenia ORPHA:51636
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Bone c... ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 54
Growth delay, Short stature, Neutropenia OMIM:617799
Incontinentia Pigmenti
Osteolysis, Camptodactyly of finger, Short stature, Eosinophilia ORPHA:464
Incontinentia Pigmenti
Leukocytosis, Short stature, Eosinophilia OMIM:308300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Severe short stature, Osteomalacia, Osteoporosis, Rick... ORPHA:2636
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
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
Retroperitoneal fibrosis, Abnormal pancreas morphology, Eosinophilia, Cholangitis ORPHA:449432
Igg4-Related Pachymeningitis
Pancreatitis, Eosinophilia ORPHA:449427
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Short stature, Vacuolated lymphocytes, Neutropenia, Pathologic fracture OMIM:208400
Zygomycosis
Brain abscess, Peritonitis, Hepatitis, Osteolysis, Neutropenia, Splenic abscess, Pancreatitis ORPHA:73263
Infantile Nephropathic Cystinosis
Growth delay, Rickets ORPHA:411629
Sponastrime Dysplasia
Joint laxity, Rhizomelia, Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphy... ORPHA:93357
Lowe Oculocerebrorenal Syndrome
Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retardation, Rickets, Path... OMIM:309000
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Primary Fanconi Renotubular Syndrome
Growth delay, Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Leukocytosis, Osteoporosis, Decreased eosinophil co... ORPHA:99889
Igg4-Related Ophthalmic Disease
Retroperitoneal fibrosis, Pancreatitis, Eosinophilia, Cholangitis ORPHA:449563
Igg4-Related Kidney Disease
Eosinophilia, Retroperitoneal fibrosis, Abnormal mesentery morphology, Sclerosing cholangitis, Ch... ORPHA:449395
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Anemia, Neutropenia ORPHA:95455
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Osteomalacia ORPHA:405
Generalized Arterial Calcification Of Infancy
Osteomalacia, Hepatic calcification, Abnormal calcification of the carpal bones, Fused cervical v... ORPHA:51608
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Hepatomegaly ORPHA:75565
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Joint hypermobility ORPHA:500166

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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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