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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, M... ORPHA:2133
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Decreased skull ossification, Short stature, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... 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
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Fanconi Anemia, Complementation Group G
Anemia, Growth delay, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, N... OMIM:615285
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Growth delay, Short stature, Neutropenia OMIM:612527
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Short stature, Neutropenia OMIM:616022
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Beta-Thalassemia
Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Thrombocytopenia, Abnormal he... ORPHA:848
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Neutropenia ORPHA:90023
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h... OMIM:618849
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A... ORPHA:251380
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Short stature, Neutropenia OMIM:612563
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Bone marrow hypocellularity, Intrau... OMIM:620501
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy OMIM:619302
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Stuve-Wiedemann Syndrome 2
Stillbirth, Death in adolescence, Camptodactyly, Neonatal death, Thrombocytopenia, Intrauterine g... OMIM:619751
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Limited pronation/supination of forearm, Thrombocytopenia, Hepatosplenomegaly, Radioulnar... OMIM:616738
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular volume, H... OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Hemochromatosis, Type 3
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Arthritis, Lymphopeni... OMIM:604250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Short stature, Gout, Intrauterine growth retardation, Neutropenia OMIM:617056
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Anemia of inadequate production, Splenome... ORPHA:231222
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Short stature, Coronal craniosynostosis, Mild intrauterine growth... OMIM:616943
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia OMIM:610798
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Tyrosinemia Type 1
Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Acute hepatic failure, Spleno... ORPHA:882
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Fanconi Anemia, Complementation Group V
Anemia, Short stature, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Death in infancy OMIM:619301
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 32B
Hepatomegaly, Anemia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Monocytopenia, ... OMIM:226990
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Specific Granule Deficiency 2
Osteopenia, Death in childhood, Anemia, Death in infancy, Thrombocytopenia, Absent neutrophil spe... OMIM:617475
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Growth delay, Thrombocytopenia, Neutropenia ORPHA:289916
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Tooth abscess, Growth delay, Osteomalacia ORPHA:89937
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Arthritis ORPHA:3165
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Cinca Syndrome
Anemia, Arthritis, Leukocytosis, Growth delay, Hepatosplenomegaly, Eosinophilia OMIM:607115
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, B lymphocytopenia, Myelofibrosis, Gr... OMIM:301078
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Osteolysis, Pancytope... ORPHA:98850
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Rickets, Jaundice, Elevated circulating hepatic transaminase concen... ORPHA:79303
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Anemia, Death in infancy, Neonatal death, Intrauterine growth retardation OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Anemia, Death in infancy, Neonatal death, Intrauterine growth retardation OMIM:618839
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Polycythemia, Methemoglobinemia OMIM:250800
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating hepatic transaminase concentration, Neutropenia, Acute myeloid leukemia, Pan... ORPHA:158057
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hem... OMIM:304790
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Neutropenia ORPHA:2643
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Elevated circulating hepatic transaminase concentration, Short... OMIM:618752
Fetal Gaucher Disease
Stillbirth, Hepatomegaly, Pancytopenia, Death in infancy, Neonatal death, Thrombocytopenia, Abnor... ORPHA:85212
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,... ORPHA:2169
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase... OMIM:607765
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Short stature, Bone marrow hypocellularity, Thrombocytop... OMIM:227645
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular h... ORPHA:231226
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen... ORPHA:398124
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Neutropenia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Fulmin... OMIM:308240
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Camptodactyly, Death in infancy, Neo... OMIM:608104
Shwachman-Diamond Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute myeloid leukemia, An... OMIM:260400
Diamond-Blackfan Anemia 6
Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persistence of hemoglobin F... OMIM:612561
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:603909
Beta-Thalassemia Major
Anisopoikilocytosis, Delayed puberty, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic a... ORPHA:231214
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, ... OMIM:150550
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells, R... OMIM:224120
Propionic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Osteoporosis, Short stature, Thrombocytopenia, ... OMIM:606054
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Short stature, Thrombocytopenia, Prolonged G2 phase of c... OMIM:600901
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Hypocalcemic Vitamin D-Dependent Rickets
Postnatal growth retardation, Rickets, Hepatomegaly, Delayed epiphyseal ossification, Leukocytosi... ORPHA:289157
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Felty Syndrome
Hepatomegaly, Anemia, Arthritis, Abnormal lymphocyte morphology, Limitation of joint mobility, Sy... ORPHA:47612
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Short stature, Eosinophilia, Osteoporosis OMIM:620532
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Reduced bone mineral de... OMIM:617052
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Osteopenia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Short stature... OMIM:613990
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie... OMIM:615952
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Osteoporosis, Growth delay, Int... OMIM:612562
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Short stature, Thrombocytopenia, Prolonged G2 phase of c... OMIM:227650
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Roifman Syndrome
Postnatal growth retardation, Short stature, Delayed proximal femoral epiphyseal ossification, Hi... ORPHA:353298
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short stature, HbH hemoglobin, Flexion contracture, Microcytic anemia ORPHA:98791
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Roifman Syndrome
Postnatal growth retardation, Hepatomegaly, Short stature, Hip contracture, Splenomegaly, Intraut... OMIM:616651
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
X-Linked Agammaglobulinemia
Anemia, Arthritis, Short stature, Thrombocytopenia, Recurrent cutaneous abscess formation, Hepati... ORPHA:47
Bile Acid Conjugation Defect 1
Rickets, Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619232
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Peritonitis, Decreased eosinophil... ORPHA:2686
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Omenn Syndrome
Hepatomegaly, Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thro... OMIM:603554
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, E... ORPHA:486
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Megaloblastic anemia, Short stature, Growth delay, Neutropenia OMIM:250940
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Osteoporosis, Short stature, Bone marrow hypocellularity, Leukopen... OMIM:613989
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Disproportionate short stature... OMIM:301110
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Hepatosplenomegaly, Eosinophilia, Hepatic cysts OMIM:618999
Whim Syndrome 1
Neutropenia OMIM:193670
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Death in childhood, Death in infancy, S... OMIM:617941
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, N... OMIM:275350
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Short stature, Bone marrow hypocellularity, Radioulnar synostosi... OMIM:614900
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Short stature, Joint hypermobility, Persistence of hemoglobin F OMIM:617101
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Rickets, Elevated circulating hepatic transaminase... OMIM:212750
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Hyperostosis, Abnormal eosinophil morphology, Arthritis, Hypoplasia of th... ORPHA:906
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Craniosynostosis, Joint contracture of the hand OMIM:618523
Omenn Syndrome
Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia ORPHA:39041
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Hepatosplenomegaly, Leukopenia, Lymphopenia, ... OMIM:618986
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Growth delay, Intrauterine growth retardation, Reduced number of intrahepat... ORPHA:79284
Congenital Enterovirus Infection
Neutropenia, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Leukopenia, Throm... ORPHA:292
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Iron deficiency anemia, Osteoporosis, Growth delay, Exocrine pancreatic insufficiency, O... ORPHA:309031
Abcd Syndrome
Polycythemia, Neonatal death OMIM:600501
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Iron deficiency ... ORPHA:1667
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Kimura Disease
Eosinophilia ORPHA:482
Hereditary Elliptocytosis
Postnatal growth retardation, Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonge... ORPHA:288
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Flexion contracture OMIM:253600
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Rickets, Cirrhosis, Reduced bone mineral density, Elevated circulating ... OMIM:613658
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Shwachman-Diamond Syndrome
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro... ORPHA:811
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Disabling Pansclerotic Morphea Of Childhood
Joint contracture, Neutropenia, Lymphopenia OMIM:620443
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropenia, Refractory si... OMIM:557000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sclerosing cholangitis, Pancytopenia, Neutropenia in presence of ant... ORPHA:572
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Osteopenia, Anemia, Pancytopenia, Growth delay, Thrombocytopenia, Dis... OMIM:242900
Wells Syndrome
Eosinophilia ORPHA:901
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Jaundice, Elevated circulating hepatic trans... ORPHA:540
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Alveolar Echinococcosis
Decreased liver function, Jaundice, Liver abscess, Cholangitis, Anemia, Bone cyst, Abnormal splee... ORPHA:284
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Leukopenia, Splenomegaly, Impaired neutrophil b... OMIM:214500
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Abnormal... ORPHA:158048
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Rhizomelic arm shortening, Short stature, Bone marr... ORPHA:508542
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Hepatomegaly, Death in childhood, Death in adolescence, Osteoporosis OMIM:560000
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Limited elbow extension, Impaired lymphocyte transformation wi... OMIM:250250
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Short stature, Bone marrow hypocellula... OMIM:227646
Mccune-Albright Syndrome
Monostotic fibrous dysplasia, Hepatocellular adenoma, Pancreatitis, Fibrous dysplasia of the bone... ORPHA:562
Immunodeficiency 55
Postnatal growth retardation, Short stature, Lymphopenia, Intrauterine growth retardation, Absent... OMIM:617827
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Joint hypermobility, Reduced natural killer cell count, Increased... OMIM:619752
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Growth delay, Thrombocytopenia, Leukopenia, Flexion contracture, Intrauterine growth ... OMIM:616271
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Thrombocytopenia, Splenomegal... OMIM:308230
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8... ORPHA:1830
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Growth delay, Splenomegaly, Hypereosinophilia OMIM:617388
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Short stature, Hepatosplenomegaly, Osteoarthritis, Osteomalacia OMIM:307800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Delayed ossification of carpal bones, Death in infancy, Lymphopenia, Disproportionate short statu... OMIM:617425
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Hypophosphatemic Bone Disease
Short stature, Rickets, Osteomalacia OMIM:146350
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251110
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Pancytopenia, Megaloblastic anemia, Short stature, Thrombocytopenia, Neutro... OMIM:277380
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia, Hepa... ORPHA:169160
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Peeling Skin Syndrome 1
Short stature, Eosinophilia OMIM:270300
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Polycystic liver disease OMIM:109130
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Death in childhood, Bone marrow hypocellu... OMIM:617303
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... OMIM:146300
Wilson Disease
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Osteomalacia, Hepatocellular carcinom... OMIM:277900
Lead Poisoning
Abnormal T cell morphology, Delayed puberty, Cranial hyperostosis, Anemia, Miscarriage, Imbalance... ORPHA:330015
Autosomal Agammaglobulinemia
Arthritis, Hepatitis, Osteomyelitis, Neutropenia ORPHA:33110
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemol... ORPHA:2330
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868
Barth Syndrome
Hypochromic microcytic anemia, Growth delay, Cyclic neutropenia, Granulocytopenia, Neutropenia OMIM:302060
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Neutropenia OMIM:618253
Thymoma
Aplastic anemia, Rheumatoid arthritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Le... ORPHA:99867
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma, ... ORPHA:2088
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Short stature, Sparse bone tr... OMIM:300554
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Joint contracture, Intrauterine growth retardation, Neutropenia OMIM:618005
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Neutropenia, Short stature, Lymphopenia OMIM:616395
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Growth delay, Sparse bone trabeculae, Recurrent fractur... OMIM:600081
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Death in infancy, Short stature, Joint stiffness, Abnormal hemoglobin, Flexion contracture ORPHA:847
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Growth de... OMIM:612541
Immunodeficiency 23
Lymphopenia, Joint hypermobility, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Neutrophilia,... ORPHA:293173
Renal Tubular Acidosis, Proximal
Short stature, Rickets, Osteomalacia OMIM:179830
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Growth delay, Sparse bone tra... OMIM:241530
Revesz Syndrome
Aplastic anemia, Macrocytic anemia, Bone marrow hypocellularity, Intrauterine growth retardation,... OMIM:268130
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Joint hypermobility, Eosinophilia, Cutaneous abscess, Osteomyelitis OMIM:618282
Cohen Syndrome
Delayed puberty, Short stature, Leukopenia, Joint hypermobility, Neutropenia OMIM:216550
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Short stature, Coarse metaphyseal trabecularization, Osteomal... ORPHA:93160
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Short stature, Growth delay, Osteomalacia, Hemolytic anemi... ORPHA:18
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Short stature, Growt... ORPHA:157215
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short stature, Bone marrow hypocellularity, Intrauterine growth retarda... OMIM:609053
Glycogen Storage Disease Ib
Delayed puberty, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232220
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Elevated circulating hepatic transaminase concentration, Growth... ORPHA:445038
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low... OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Reduced red cell adenosine deaminase level, B lymphocy... OMIM:102700
Aspergillosis
Eosinophilia, Hepatitis, Osteomyelitis, Neutropenia ORPHA:1163
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia, Short stature, Osteomalacia, Recurrent fractures OMIM:613388
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Hepatosplenomegaly, Osteomyelitis, Neutropenia OMIM:301081
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Microcytic anemia, Neutropenia OMIM:251900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Cutaneous abscess, Growth delay, Decreased proportion of CD4-positive hel... OMIM:243700
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Viral hepatitis, Neutropenia OMIM:209920
Poikiloderma With Neutropenia
Short stature, Growth delay, Joint stiffness, Leukopenia, Splenomegaly, Joint hypermobility, Neut... OMIM:604173
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Infantile Systemic Hyalinosis
Osteopenia, Osteoporosis, Growth delay, Joint stiffness, Camptodactyly of finger, Severe short st... ORPHA:2176
Sepsis In Premature Infants
Decreased liver function, Jaundice, Hepatomegaly, Anemia, Leukocytosis, Thrombocytopenia, Splenom... ORPHA:90051
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Craniosynostosis, Joint hypermobility, Eosinophilia, Recurrent fractures, Osteomyelitis ORPHA:2314
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytosis, Neutropenia in presence of anti-neutrop... ORPHA:3261
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Delayed epiphyseal ossification, Growth delay, Sparse bone trabeculae, Recurrent fractur... OMIM:264700
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Osteomalacia, Osteoporosis, Joint stiffness, Severe short stature, Joint hyp... ORPHA:1901
Vitamin D-Dependent Rickets, Type 2A
Rickets, Delayed epiphyseal ossification, Growth delay, Sparse bone trabeculae, Recurrent fractur... OMIM:277440
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet... OMIM:608233
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Short stature, Sparse bone trabeculae, Osteomalacia, Re... OMIM:300009
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Generalized bone demineralization, Macrocytic anemia, Eosinophilia, Hepatitis ORPHA:199299
Cystinosis
Delayed puberty, Rickets, Portal hypertension, Short stature ORPHA:213
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Osteopenia, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Increase... ORPHA:79259
Fanconi Renotubular Syndrome 3
Growth delay, Rickets, Short stature OMIM:615605
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Se... OMIM:300755
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentration, Pancreatit... ORPHA:3260
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Saul-Wilson Syndrome
Intrauterine growth retardation, Postnatal growth retardation, Short stature, Neutropenia OMIM:618150
Khan-Khan-Katsanis Syndrome
Anemia, Short stature, Joint contracture, Lymphopenia, Intrauterine growth retardation, Neutropenia OMIM:618460
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Peritonitis, Neutropenia ORPHA:391673
Fusariosis
Lung abscess, Arthritis, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lympho... ORPHA:228119
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Acute hepatic failure, Eo... ORPHA:139402
Chédiak-Higashi Syndrome
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hemo... ORPHA:167
Pearson Syndrome
Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... ORPHA:699
Immunodeficiency 82 With Systemic Inflammation
Anemia, B lymphocytopenia, Arthritis, Decreased proportion of naive T cells, T lymphocytopenia, S... OMIM:619381
Rothmund-Thomson Syndrome
Aplastic anemia, Increased susceptibility to fractures, Osteopenia, Reduced bone mineral density,... ORPHA:2909
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Rickets, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:616026
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta s... OMIM:301040
Hypercholanemia, Familial 1
Rickets OMIM:607748
Fanconi Renotubular Syndrome 1
Short stature, Rickets, Osteomalacia OMIM:134600
Spondyloenchondrodysplasia With Immune Dysregulation
Juvenile rheumatoid arthritis, T lymphocytopenia, Short stature, Rheumatoid arthritis, Lymphopeni... OMIM:607944
Fibrous Dysplasia Of Bone
Rickets, Pathologic fracture, Abnormal bone structure, Cortical irregularity, Short stature, Thin... ORPHA:249
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... ORPHA:37042
Neu-Laxova Syndrome
Rickets, Osteopenia, Osteomalacia, Osteoporosis, Flexion contracture, Intrauterine growth retarda... ORPHA:2671
Fanconi-Bickel Syndrome
Postnatal growth retardation, Rickets, Hepatomegaly, Intrahepatic cholestasis, Elevated circulati... OMIM:227810
Cartilage-Hair Hypoplasia
Limited elbow extension, Abnormal bone ossification, Hepatomegaly, Anemia, Rhizomelia, Disproport... ORPHA:175
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Toxic Epidermal Necrolysis
Pancreatitis, Elevated circulating hepatic transaminase concentration, Anemia, Acute hepatic fail... ORPHA:537
Trichothiodystrophy
Osteopenia, Anemia, Increased mean corpuscular hemoglobin concentration, Increased bone mineral d... ORPHA:33364
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Finger symphalangism, Osteopenia, Anemia, Synostosis involving bones of the uppe... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Finger symphalangism, Osteopenia, Anemia, Short stature, Growth delay, Abnormal ... ORPHA:221008
Alkaptonuria
Increased susceptibility to fractures, Reduced bone mineral density, Black pigment gallstones, Ar... ORPHA:56
Leigh Syndrome
Anemia, Hepatic failure, Growth delay, Intrauterine growth retardation, Multiple joint contractur... ORPHA:506
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Generalized osteosclerosis, Arthri... ORPHA:89936
Cohen Syndrome
Delayed puberty, Short stature, Intrauterine growth retardation, Joint hypermobility, Neutropenia ORPHA:193
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Rickets, Recurrent fractures OMIM:268315
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Elevated circulating hepatic transaminase concentration, Neutropenia OMIM:615471
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Megaloblastic anemia, Growth delay, Thrombocytopenia, Intrauterine growth retardation, ... ORPHA:79282
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Limited elbow extension, Rhizomelia, Disproportionate short-limb short stature, Delay... OMIM:271510
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Anemia, Arthritis, Osteomalacia, Death in infancy, Short stature, Joint stiffnes... ORPHA:534
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Death in infancy, Growth delay, Neonatal death, Neutropenia OMIM:617248
Glycogen Storage Disease Ic
Delayed puberty, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Gout, Hepatoblasto... OMIM:232240
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia OMIM:277400
Hypophosphatemic Rickets And Hyperparathyroidism
Short stature, Rickets, Hypophosphatemic rickets OMIM:612089
Thrombocytopenia-Absent Radius Syndrome
Anemia, Fused cervical vertebrae, Leukocytosis, Death in infancy, Short stature, Hepatosplenomega... OMIM:274000
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Kikuchi-Fujimoto Disease
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphocytosis, Leu... ORPHA:50918
Dent Disease
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... ORPHA:1652
Dermatomyositis
Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Arthritis ORPHA:221
Occipital Horn Syndrome
Rickets, Osteopenia, Jaundice, Osteomalacia, Cholestasis, Synostosis of joints, Osteoporosis, Joi... ORPHA:198
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Arthritis ORPHA:183
Cystinosis, Nephropathic
Delayed puberty, Rickets, Hepatomegaly, Hypophosphatemic rickets, Short stature, Growth delay, Ex... OMIM:219800
Coccidioidomycosis
Pancreatitis, Arthritis, Granuloma, Osteomyelitis, Abnormality of the spleen, Peritonitis, Abnorm... ORPHA:228123
Vici Syndrome
Postnatal growth retardation, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... OMIM:242840
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Bone cyst, ... ORPHA:797
Incontinentia Pigmenti
Short stature, Eosinophilia, Camptodactyly of finger, Osteolysis ORPHA:464
Cushing Disease
Lymphopenia, Leukocytosis, Osteoporosis, Decreased eosinophil count ORPHA:96253
Whim Syndrome
Neutropenia, Abnormal neutrophil morphology, Lymphopenia ORPHA:51636
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Growth delay, Neutropenia OMIM:617799
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Incontinentia Pigmenti
Short stature, Eosinophilia, Leukocytosis OMIM:308300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteopenia, Osteomalacia, Abnormally ossified vertebrae, Osteoporosis, Severe short stat... ORPHA:2636
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Pancreatitis OMIM:600740
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology ORPHA:449432
Igg4-Related Pachymeningitis
Eosinophilia, Pancreatitis ORPHA:449427
Zygomycosis
Pancreatitis, Splenic abscess, Brain abscess, Peritonitis, Hepatitis, Osteolysis, Neutropenia ORPHA:73263
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Joint hypermobility, Craniosynostosis, Recurrent cutaneous abscess formation, Eosinop... OMIM:147060
Aspartylglucosaminuria
Hepatomegaly, Pathologic fracture, Vacuolated lymphocytes, Short stature, Joint hypermobility, Ne... OMIM:208400
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Infantile Nephropathic Cystinosis
Growth delay, Rickets ORPHA:411629
Lowe Oculocerebrorenal Syndrome
Rickets, Postnatal growth retardation, Pathologic fracture, Osteomalacia, Short stature, Camptoda... OMIM:309000
Sponastrime Dysplasia
Limited elbow extension, Generalized joint hypermobility, Rhizomelia, Disproportionate short-limb... ORPHA:93357
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Igg4-Related Kidney Disease
Decreased liver function, Pancreatitis, Sclerosing cholangitis, Abnormal mesentery morphology, Eo... ORPHA:449395
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Lymphopenia, Leukocytosis, Osteoporosis, Decreased eosinophil count, P... ORPHA:99889
Primary Fanconi Renotubular Syndrome
Growth delay, Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures ORPHA:3337
Igg4-Related Ophthalmic Disease
Eosinophilia, Retroperitoneal fibrosis, Pancreatitis, Cholangitis ORPHA:449563
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Pancreatitis ORPHA:405
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated circulating hepatic transaminase concentration, Anemia, Neutropenia ORPHA:95455
Hypomagnesemia 3, Renal
Short stature, Rickets OMIM:248250
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, P... ORPHA:51608
Tropical Endomyocardial Fibrosis
Eosinophilia, Hepatomegaly, Splenomegaly 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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