banner
Genes Phenotypes Help, News, Blog

Gene: Rcbtb2 MGI:1917200

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2
Synonyms:
2610028E02Rik,  Chc1l,  2810420M18Rik,  Rc/btb2

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 Rcbtb2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rcbtb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo... OMIM:133180
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Mantle Cell Lymphoma
B-cell lymphoma, Splenomegaly, Lymphadenopathy ORPHA:52416
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly ORPHA:66661
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphoma, Hepatosplenomeg... OMIM:619126
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia OMIM:615593
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 84
B-cell lymphoma, B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphoc... OMIM:614470
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Decreased CD4... OMIM:300853
Tyrosinemia Type 1
Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly, Hepatomegaly ORPHA:882
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary thyr... ORPHA:97290
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Lymphoma, Ascites, Splenomegaly, Abn... ORPHA:100025
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormal peritoneum morphology ORPHA:2023
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Paraneoplastic Pemphigus
B-cell lymphoma, Sarcoma, Thymoma ORPHA:63455
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, B-cell lymphoma... OMIM:619164
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly,... ORPHA:83469
Ollier Disease
Anemia, Hemangioma, Chondrosarcoma, Sarcoma, Lymphangioma, Neoplasm, Multiple enchondromatosis, V... ORPHA:296
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelodysplasia ORPHA:721
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating hepatic transaminase concentration, Hodgkin lymphoma, Splenomegaly, Reduced ... ORPHA:158057
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomegaly ORPHA:545
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly, Neoplasm ORPHA:172
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Neoplasm of head and neck, Papillary thyroid carcinoma, Chronic n... ORPHA:319487
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Chronic nonin... ORPHA:79140
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Acquired Ichthyosis
Sarcoma, Neoplasm, Lymphoma, Multiple myeloma ORPHA:454
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h... OMIM:617068
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Neoplasm of the stomach, Intestinal obstruction, Anemia, Neoplasm of the rec... ORPHA:44890
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Follicular hyperplasia, Hepatomegaly, Absent isohemagglutinin level,... OMIM:615559
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Maffucci Syndrome
Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor... ORPHA:163634
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula... OMIM:615122
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular... OMIM:613490
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra... ORPHA:75564
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Bone marrow hypocellularity, Splenomegaly, Neoplasm ORPHA:391
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph... ORPHA:397596
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Lymph... ORPHA:424019
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Carney Triad
Mediastinal lymphadenopathy, Leiomyosarcoma, Anemia, Lymphadenopathy, Adrenocortical adenoma, Phe... ORPHA:139411
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hodgkin lym... OMIM:619375
Gist-Plus Syndrome
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor OMIM:175510
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Sp... ORPHA:2584
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Neutropenia, Hemophagocytosis, Lymphadenopat... OMIM:308240
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Anemia, Lymphadenopathy, Sarcoma, Thrombo... ORPHA:69077
Granulomatous Slack Skin
Hodgkin lymphoma, Abnormal lymph node morphology, Lymphoma ORPHA:33111
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Lymphoma, Increased circulating IgM level, S... ORPHA:37748
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Gastrointestinal Stromal Tumor
Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor OMIM:606764
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Decreased circulating a... ORPHA:1572
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Abnormal lymph node morphology, Decreased pr... ORPHA:543
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Mycosis Fungoides
Lymphadenopathy, Neoplasm of the skin, Lymphoma OMIM:254400
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Infantile Myofibromatosis
Fibroma, Intestinal obstruction, Neoplasm of the pancreas, Gingival fibromatosis, Neoplasm of the... ORPHA:2591
Familial Adenomatous Polyposis 3
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... OMIM:616415
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Complete or near-complete absence of specific antibody ... OMIM:607271
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Nephroblastoma
Lymphadenopathy, Neoplasm of the lung, Neoplasm, Nephroblastoma, Neoplasm of the liver ORPHA:654
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Muir-Torre Syndrome
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Neoplasm, Cutaneous melanoma ORPHA:626
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Neoplasm of the skin, Abnormal lymp... ORPHA:3162
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Lymphoproliferati... OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Adrenal pheochromocytoma, Renal cell carcinoma, Gastrointestinal stroma tumor, Para... OMIM:115310
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem... OMIM:601859
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... ORPHA:100026
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... ORPHA:79665
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody... ORPHA:3318
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM... OMIM:209950
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
B-cell lymphoma, Generalized lymphadenopathy, Burkitt lymphoma, Osteochondroma OMIM:620232
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Liposarcoma
Sarcoma ORPHA:69078
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... OMIM:276300
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hepatic failure ORPHA:75234
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastric varix, Jaundice, Elevated circulating hepatic trans... ORPHA:64743
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... OMIM:616860
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Lymphoproliferat... ORPHA:90033
Yellow Nail Syndrome
Renal neoplasm, Hypoplasia of lymphatic vessels, Neoplasm of the lung, Sarcoma, Biliary tract neo... ORPHA:662
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Neona... OMIM:214900
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom... OMIM:613313
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi... ORPHA:98849
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Neoplasm of the lung, Ne... ORPHA:1332
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomega... ORPHA:98848
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Inc... OMIM:612783
Carney-Stratakis Syndrome
Intestinal obstruction, Paraganglioma, Gastrointestinal stroma tumor ORPHA:97286
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarcinoma, Int... ORPHA:1333
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo... ORPHA:2930
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple... OMIM:618495
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly, Hepatic failure ORPHA:664
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem... OMIM:603909
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... ORPHA:733
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased circulatin... OMIM:619802
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
X-Linked Sideroblastic Anemia
Splenomegaly, Elevated circulating hepatic transaminase concentration, Anemia ORPHA:75563
Cholesteryl Ester Storage Disease
Steatorrhea, Acute hepatic failure, Leukopenia, Splenomegaly, Hepatic steatosis, Increased hepati... OMIM:278000
Leishmaniasis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circulating anti... ORPHA:507
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the lung, Ne... ORPHA:424016
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin... ORPHA:3261
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Recurrent tonsillitis, Lymphadenopathy, Acute pancreatitis, Lymph... OMIM:618935
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Klatskin Tumor
Hepatomegaly, Jaundice, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Villous atrophy, Generalized lymphadenopathy, Lymphadenopathy, Pancy... OMIM:614700
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal... ORPHA:75233
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Pyloric s... ORPHA:381
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... OMIM:235555
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Retinoblastoma
Retinoblastoma, Lymphoma, Ewing sarcoma, Cleft palate, Osteosarcoma, Pinealoma, Leukemia OMIM:180200
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neoplasm, Hemolytic anemia ORPHA:169090
Budd-Chiari Syndrome
Intestinal obstruction, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentrat... ORPHA:131
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Lymphoma, Sp... ORPHA:39041
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Elevate... OMIM:613812
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE level, Lymph... OMIM:602450
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory... OMIM:618394
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis, Myelodysplasia ORPHA:71493
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:2137
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Hyper-Igd Syndrome
Lymphadenopathy, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Increased circulat... OMIM:260920
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Lymphoma, Bone marrow hypo... ORPHA:47612
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi... OMIM:612714
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:77259
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Multiple myeloma, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hepatocellular carci... ORPHA:231222
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Eosinophilia, Neutrophilia, Thrombocytopeni... OMIM:226990
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Neurofibromatosis Type 1
Rhabdomyosarcoma, Multiple lipomas, Spinal neurofibroma, Chronic myelogenous leukemia, Pheochromo... ORPHA:636
Adams-Oliver Syndrome 5
Esophageal varix, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Cavernous ... OMIM:616028
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Hepati... ORPHA:848
Werner Syndrome
Neoplasm of the oral cavity, Thyroid carcinoma, Renal neoplasm, Ovarian neoplasm, Squamous cell c... ORPHA:902
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... OMIM:615234
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Reduced red cell pyruvate kinas... OMIM:266200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating... OMIM:617388
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Lymphoma, Impa... OMIM:613179
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Leukocytosis, Hepatosplenomegaly, Thrombocytopeni... ORPHA:457077
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, High palate, Sarcoma, Meningioma, Hepatospl... ORPHA:96123
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Reduced red cell aden... OMIM:102700
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Retinoblastoma
Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Clef... ORPHA:790
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:300972
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatomegaly, Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis... OMIM:208540
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C... ORPHA:171
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Mediastinal lymphadenopathy, Tracheoesophageal fistula, Pyloric sten... ORPHA:379
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells, R... OMIM:224120
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Familial Tumoral Calcinosis
Neoplasm of the skin, Hepatomegaly, Splenomegaly ORPHA:53715
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Splenomegaly, Lipoma OMIM:612918
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circulating anti... OMIM:617591
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, P... OMIM:615688
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Increased circulating IgA level, Hepatocellular c... ORPHA:186
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... ORPHA:731
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Gastritis, Villous atrophy, Panhypogammaglobulinemia, Hypoplasia of the ... ORPHA:84064
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ... ORPHA:97685
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hypertension, Spleno... OMIM:263200
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Splenomegal... OMIM:306400
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Decreased circulating total IgG, Villous atrophy, Gastritis, Anoperineal fistula,... OMIM:619381
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Enlarged kidney... OMIM:276700
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis OMIM:615947
Dermatomyositis
Elevated circulating hepatic transaminase concentration, Abnormal eosinophil morphology, Lymphoma... ORPHA:221
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ... ORPHA:77293
Hyperlipoproteinemia, Type I
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly OMIM:238600

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 Rcbtb2

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 Rcbtb2.

No publications found that use IMPC mice or data for Rcbtb2.

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
Rcbtb2tm402893(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter