Not currently registered for phenotyping at IMPC

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

Gene Summary

transforming growth factor beta regulated gene 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tbrg1 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 Tbrg1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, B-cell lymphoma ORPHA:52416
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinophilia OMIM:607685
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Kaposi's sarcoma, Splenomegaly OMIM:615593
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, B-cell lymphoma, Recurrent bronchiolitis, B ... OMIM:619164
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Lymphoma, Breast carcinoma, Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Bronchiectasis, ... OMIM:300853
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Alpha-Heavy Chain Disease
Lymphoma, Hepatomegaly, Ascites, Alopecia, Splenomegaly, Anemia, Premature ovarian insufficiency,... ORPHA:100025
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Hodgkin Lymphoma
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Hemoptysis, Lymphadenopathy ORPHA:98293
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomega... ORPHA:846
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Lymphoproliferative disorder, Increased pr... OMIM:615559
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Jaundice, Hepatomegaly, Splenomegaly ORPHA:172
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Acute myelomonocytic leukemia, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Lymphoma, Splenomegaly, Mediastinal lymphadenopa... ORPHA:545
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Lympha... OMIM:618495
Acquired Idiopathic Sideroblastic Anemia
Myelodysplasia, Hypochromic anemia, Thrombocytosis, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Alopecia, Splenomegaly, Cutaneous T-cell ... ORPHA:2584
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Neutropenia in presence... OMIM:619220
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis, Follicular hyperp... OMIM:240500
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Recurrent pneumonia, Lymphoma, Pancytopenia, Hepa... OMIM:615122
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 36
Bronchiectasis, Chronic lymphatic leukemia, Lymphopenia, B-cell lymphoma, Splenomegaly, Recurrent... OMIM:616005
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Hepatomegaly, Anemia, Splenomegaly, ... OMIM:615234
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Diffuse reticular or ... OMIM:607616
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... OMIM:308240
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Gastrointestinal carcinoma, Neoplasm, Hepatomegaly, Splenomega... ORPHA:2930
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Schnitzler Syndrome
Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Classic Hodgkin Lymphoma
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Hemoptysis, Bone marrow hypocellularity, Lymphade... ORPHA:391
Immunodeficiency 54
Lymphoproliferative disorder, Adrenocorticotropic hormone excess, Reduced natural killer cell cou... OMIM:609981
Sézary Syndrome
Abnormal pleura morphology, Abnormal lymphocyte morphology, Lymphoma, Lymphadenopathy, Hepatomega... ORPHA:3162
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Myeloproliferative disorder, Splenomegaly OMIM:254450
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Recurrent respiratory infections, Thrombocytopenia, He... ORPHA:3226
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:796
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Thrombocytop... OMIM:613101
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections OMIM:226990
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural e... OMIM:613011
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Hypoplasia of the thymus, Thrombocytopenia, Hepatomegaly, Eo... OMIM:603554
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Proteus Syndrome
Hemangioma, Multiple lipomas, Splenomegaly, Lymphangioma, Lipoma, Depressed nasal bridge OMIM:176920
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Primary Myelofibrosis
Poikilocytosis, Hemangioma, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytope... ORPHA:824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Neutr... OMIM:150550
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Immunodeficiency 27A
Thrombocytosis, Pulmonary infiltrates, Leukocytosis, Pneumonia, Histiocytosis, Anemia, Splenomega... OMIM:209950
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Splenomegaly OMIM:608540
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Multiple myeloma, Myelodysplasia, Leukocytosis, Chronic lymphatic leukemia, Nor... ORPHA:98849
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Pleural effusion, Hepatocellular carcinoma, Hepatomegaly, Testicular atro... OMIM:235200
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, ... ORPHA:90033
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Abnormal lymphocyte morphology, Pneumonia, Lymph... ORPHA:39041
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Jaundice, Hepatomegaly, Sparse and th... ORPHA:59303
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Ascites, Anemia, Splenomegaly, Hypospadias, Hypoplasia of penis ORPHA:1046
Griscelli Syndrome Type 2
Hemophagocytosis, Hypopigmentation of hair, Premature graying of hair, Neutropenia, Pancytopenia,... ORPHA:79477
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Dysplastic Cortical Hyperostosis
Hepatomegaly, Aplasia/Hypoplasia of the lungs, Splenomegaly ORPHA:2204
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Gaucher Disease Type 2
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:77260
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia, Lymphoma ORPHA:98375
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly OMIM:602271
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis... ORPHA:3261
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:612526
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly, Recurrent... OMIM:300635
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Common Variable Immunodeficiency
Recurrent bronchitis, Gastrointestinal stroma tumor, Hemolytic anemia, Autoimmune thrombocytopeni... ORPHA:1572
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegaly, Intermittent jaundic... OMIM:601847
Felty Syndrome
Recurrent pneumonia, Pleuritis, Pulmonary fibrosis, Abnormal lymphocyte morphology, Neutropenia, ... ORPHA:47612
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Fair hair, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Anteverted ... OMIM:269920
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neutrophils, Silver-gray h... ORPHA:381
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pfapa Syndrome
Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Splenomegaly ORPHA:42642
Gaucher Disease, Type I
Multiple myeloma, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormal pulmonary ... OMIM:230800
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Macrocephaly/Autism Syndrome
Short nose, Lymphopenia, Hepatomegaly, Splenomegaly, Depressed nasal bridge OMIM:605309
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular volume, Leukocytosis, Hepatoce... ORPHA:231222
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Hirsutism, Thrombocytopenia, Splenomegaly OMIM:314050
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Pulmonary fibrosis, Decreased basophil co... OMIM:618394
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Hepatomegaly, Abnormal pulmonary... OMIM:612387
Aredyld Syndrome
Aplasia/Hypoplasia of the eyebrow, Refractory anemia with ringed sideroblasts, Hepatomegaly, Sple... ORPHA:1133
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, ... OMIM:618935
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Alopecia of scalp, Splenomegaly, Decreased testicular size, Hypogonadism OMIM:201100
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Neoplasm, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Recurrent p... ORPHA:108
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Pharyngalgia, Lymphadenopathy, Splenomegaly OMIM:611762
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Hurler-Scheie Syndrome
Generalized hirsutism, Splenomegaly, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Roifman Syndrome
Recurrent pneumonia, Underdeveloped nasal alae, Prominent eyelashes, Hepatomegaly, Eosinophilia, ... OMIM:616651
Caspase 8 Deficiency
Pneumonia, Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenop... OMIM:607271
Zimmermann-Laband Syndrome
Gingival fibromatosis, Bulbous nose, Long eyelashes, Facial hypertrichosis, Generalized hypertric... ORPHA:3473
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Lymphoproliferative d... OMIM:614700
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Thick hair, Hepatomegaly, Splenomegaly, Recurrent respiratory infections OMIM:613489
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections,... OMIM:613179
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Enlarged kidney, Pancreatic cysts, Pleural effusion, Abnormal lymphatic... ORPHA:464329
Familial Thrombocytosis
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly ORPHA:71493
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Sp... OMIM:252900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Immunodeficiency, Common Variable, 7
Pharyngalgia, Recurrent respiratory infections, Splenomegaly OMIM:614699
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
X-Linked Lymphoproliferative Disease
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Increased B cell c... ORPHA:2442
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Ca... OMIM:252920
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Hemangioma, Depressed nasal bridge, Splenomegaly OMIM:608799
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Proteus-Like Syndrome
Hemangioma, Subcutaneous lipoma, Polycystic ovaries, Bronchogenic cyst, Abnormality of the parath... ORPHA:2969
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen, Anteverted... ORPHA:85212
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Synophrys, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, H... OMIM:606003
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Mevalonic Aciduria
Splenomegaly ORPHA:29
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615846
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Hypereosinophilia, Splenomegaly, Laryngeal papilloma OMIM:617388
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Adams-Oliver Syndrome 5
Cavernous hemangioma, Right ventricular hypertrophy, Hypersplenism, Splenomegaly, Dystrophic toenail OMIM:616028
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Wide nasal bridge, H... OMIM:612541
Synophrys, Wide nasal bridge, Hypoplastic nipples, Hepatomegaly, Splenomegaly, Generalized hirsut... OMIM:269921
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Abnormality of the pulmonary artery ORPHA:290
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular... ORPHA:231226
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:616100
Hurler-Scheie Syndrome
Hirsutism, Hepatomegaly, Splenomegaly, Tracheal stenosis, Recurrent respiratory infections, Depre... OMIM:607015
Adult-Onset Still Disease
Pleuritis, Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neut... ORPHA:829
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Polycythemia Vera
Myelodysplasia, Hepatomegaly, Splenomegaly, Portal hypertension, Acute leukemia ORPHA:729
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Hypocomplementemic Urticarial Vasculitis
Pleural effusion, Emphysema, Lymphoma, Hepatomegaly, Ascites, Splenomegaly, Hemoptysis, Lymphaden... ORPHA:36412
Glycogen Storage Disease Ixc
Cirrhosis, Bile duct proliferation, Splenomegaly, Hepatomegaly OMIM:613027
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar hemorrhage, A... OMIM:616050
Dyskeratosis Congenita
Premature graying of hair, Neoplasm, Anemia, Neoplasm of the pancreas, Cirrhosis, White hair, Thr... ORPHA:1775
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular... ORPHA:231214
Mucopolysaccharidosis, Type Iiid
Recurrent upper respiratory tract infections, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Th... OMIM:252940
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent sinusitis, Neutropenia, Splenomegaly OMIM:604173
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Prolidase Deficiency
Recurrent pneumonia, Short nose, Thrombocytopenia, Hepatomegaly, Facial hirsutism, Prolonged neon... OMIM:170100
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:256550
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Recurrent pneumonia, Enlarged kidney, Hirsutism, Macrovesicular hepatic st... OMIM:617303
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pleural effusion, Lymphadenopathy, Splenomegaly ORPHA:85414
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Pleural effusion, Ascites, Splenomegaly ORPHA:2414
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Renal angiomyolipoma, Splenomegaly, Neutrophilia, Hepatosplenomegaly... OMIM:260920
Hepatomegaly, Depressed nasal bridge, Recurrent respiratory infections, Splenomegaly ORPHA:61
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Pancreatic cysts, Hepatic cysts, Periportal fibrosis, Hepatomegaly, Pulmonary hy... OMIM:263200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Viral hepatitis, Hepatocellular carcinoma, Sclerosing cholangitis, Ja... ORPHA:2137
Waldenström Macroglobulinemia
Pulmonary infiltrates, Abnormality of neutrophils, Pleural effusion, Lymphoma, Hepatomegaly, Norm... ORPHA:33226
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly, Cholangiocar... ORPHA:465508
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly OMIM:612918
Aicardi-Goutieres Syndrome 1
Multiple gastric polyps, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegal... OMIM:225750
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Polycystic ovarie... ORPHA:370
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Sp... OMIM:252930
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Nail dystrophy, Splenomegaly OMIM:205400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Broad nasal tip, Hepatome... ORPHA:1655
Legionnaires Disease
Abnormal lung morphology, Abnormal pleura morphology, Lymphopenia, Jaundice, Hepatitis, Pancreati... ORPHA:549
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Syndromic Diarrhea
Hypopigmentation of hair, Cirrhosis, Thrombocytosis, Lymphopenia, Uncombable hair, Peripheral pul... ORPHA:84064
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Familial Tumoral Calcinosis
Hepatomegaly, Neoplasm of the skin, Splenomegaly ORPHA:53715
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Wide nasal bridge, Hepatomegaly, Thyroid lymphangiec... OMIM:235255
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Generalized hirs... ORPHA:2348
Hepatomegaly, Abnormal pulmonary interstitial morphology, Splenomegaly ORPHA:99745
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Albinism, Pulmonary fibrosis, Neutropenia, Fair hair, Thrombocytopenia, Hepa... OMIM:608233
Chediak-Higashi Syndrome
Hemophagocytosis, Hypopigmentation of hair, Abnormal dense granules, Silver-gray hair, Impaired n... OMIM:214500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Polycystic ovaries, Cholestasis, Hepatic fi... ORPHA:264580
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Chronic Granulomatous Disease
Abnormality of neutrophils, Recurrent respiratory infections, Hepatomegaly, Sinusitis, Splenomega... ORPHA:379
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly ORPHA:2785
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Clitoral h... OMIM:614866
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Ascites, Splenomegaly ORPHA:834
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Gener... ORPHA:79083
Mixed Connective Tissue Disease
Hemolytic anemia, Pleuritis, Pulmonary fibrosis, Hepatomegaly, Abnormal pulmonary interstitial mo... ORPHA:809
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:618641
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cholestasis OMIM:615630
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Choanal atresia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancre... OMIM:610199
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Hermansky-Pudlak Syndrome 10
Albinism, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Splenomegaly, Re... OMIM:617050
Elevated circulating growth hormone concentration, Abnormal hair quantity, Hepatomegaly, Splenome... ORPHA:2796
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Hypersplenism, Enlarged kidney, Periportal fibrosis, Thrombocytopenia, Cholangitis, Asc... ORPHA:731
Oculoskeletodental Syndrome
Low anterior hairline, Cryptorchidism, Wide nasal bridge, Hepatomegaly, Splenomegaly, Low posteri... OMIM:618440
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Multiple Sulfatase Deficiency
Coarse hair, Hepatomegaly, Thick eyebrow, Splenomegaly, Anteverted nares, Depressed nasal bridge ORPHA:585
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anteverted nares OMIM:251290
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphoproliferative disorder, Thrombocytosis, Leukocytosis, Lymphopenia, Recurrent sinusitis, Pan... OMIM:615688
Zimmermann-Laband Syndrome 1
Gingival fibromatosis, Long penis, Hirsutism, Synophrys, Wide nasal bridge, Hepatomegaly, Thick e... OMIM:135500
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Hemolytic anemia, Splenomegaly, Hypoplasia of penis, Hypogonadotropi... ORPHA:251066
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Prolidase Deficiency
Low anterior hairline, Hirsutism, Hepatomegaly, White forelock, Splenomegaly, Generalized hirsuti... ORPHA:742
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Kagami-Ogata Syndrome
Laryngomalacia, Hepatomegaly, Pulmonary hypoplasia, Frontal hirsutism, Splenomegaly, Anteverted n... OMIM:608149
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Abnormal pleura morphology, Splenomegaly, Hepatomegaly ORPHA:92
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Anteverted nares, Hypergonadotropic hypogonadism, Cervical lymphadenopathy, Alopecia... OMIM:602782
Primary Sclerosing Cholangitis
Cirrhosis, Pleural effusion, Hepatocellular carcinoma, Cholelithiasis, Cholestasis, Hepatic fibro... ORPHA:171
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Idiopathic Hypereosinophilic Syndrome
Myelodysplasia, Thrombocytosis, Pulmonary infiltrates, Pulmonary fibrosis, Leukocytosis, Pleural ... ORPHA:3260
Short nose, Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Depressed nasal bridge ORPHA:2746
Vacuolated lymphocytes, Absent/hypoplastic paranasal sinuses, Hepatomegaly, Thick eyebrow, Cardio... OMIM:230000
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly ORPHA:90970
Hurler Syndrome
Broad nasal tip, Hirsutism, Enlarged tonsils, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Ant... OMIM:607014
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splen... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splen... OMIM:233710
Coach Syndrome 1
Cirrhosis, Abnormal abdomen morphology, Hepatic fibrosis, Hepatomegaly, Intrahepatic bile duct di... OMIM:216360
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hamartoma, Hepatomegaly, Vaginal atresia, Splenomegaly, Hydrometrocolpos, Depressed nasal bridge OMIM:617088
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Cholestatic liver diseas... ORPHA:540
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Hepatomegaly, Splenom... ORPHA:77297
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Sinusitis, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Brittle hair, Splenomegal... OMIM:616084
Gaucher Disease, Perinatal Lethal
Short nose, Thrombocytopenia, Hepatomegaly, Splenomegaly, Ascites, Cardiomegaly, Anemia, Hepatosp... OMIM:608013
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splen... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splen... OMIM:233690
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Choanal atresia, Pancytopenia, Hepatomegaly, Hepatitis, Hypersplenism, Splenomegaly, Portal hyper... OMIM:613385
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Cholestasis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:614576
Hardikar Syndrome
Hepatomegaly, Jaundice, Vaginal atresia, Cholangitis, Pulmonary artery stenosis, Splenomegaly, Po... OMIM:612726
Sialidosis Type 1
Wide nasal bridge, Splenomegaly ORPHA:812
Pediatric-Onset Graves Disease
Goiter, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Jaundice, Hepatom... ORPHA:525731
Trichohepatoneurodevelopmental Syndrome
Bulbous nose, Curly hair, Coarse hair, Cholelithiasis, Synophrys, Hypoplastic nipples, Hepatomega... OMIM:618268
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis, Hepatic fibrosis, Jaundice, He... ORPHA:567983
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:257220
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:575
Gm1 Gangliosidosis
Abnormality of the scrotum, Broad nasal tip, Hirsutism, Aspiration pneumonia, Splenomegaly, Gener... ORPHA:354
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pulmonary fibrosis, Hepatomegaly, Splenomegaly, Neutrophilia, Abscess OMIM:612852
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:259700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, L... OMIM:603553
Gm1-Gangliosidosis, Type I
Hepatomegaly, Hypertrichosis, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Cardiofaciocutaneous Syndrome 1
Sparse hair, Absent eyelashes, Bulbous nose, Short nose, Curly hair, Absent eyebrow, Numerous nev... OMIM:115150
Mucopolysaccharidosis Type 7
Abnormal pleura morphology, Hepatitis, Ascites, Splenomegaly, Recurrent respiratory infections ORPHA:584
Hennekam Syndrome
Benign neoplasm of the central nervous system, Lymphopenia, Sparse axillary hair, Wide nasal brid... ORPHA:2136
Isolated Biliary Atresia
Cirrhosis, Atretic gallbladder, Periportal fibrosis, Hypopituitarism, Cholestasis, Hepatomegaly, ... ORPHA:30391
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:607625
Hepatomegaly, Anemia, Splenomegaly ORPHA:763
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Hypopigmentation of hair, Vacuolated ... ORPHA:167
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Splenomegaly ORPHA:3035
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Hirsutism, Hepatomegaly, Thick eyebrow, Splenomegaly OMIM:253220
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Congenital Erythropoietic Porphyria
Hemolytic anemia, Neoplasm of the skin, Reticulocytosis, Scarring alopecia of scalp, Erythroid hy... ORPHA:79277
Beckwith-Wiedemann Syndrome
Cryptorchidism, Facial hemangioma, Exocrine pancreatic insufficiency, Neuroblastoma, Pseudohypopa... ORPHA:116
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Recurrent bronchitis, Cavernous hemangioma, Hepatomegaly, Sparse and thin ey... OMIM:252500
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Cirrhosis, Neoplasm of the liver, Hepatomegaly, Congenital hepatic fibrosi... ORPHA:1454
Congenital Disorder Of Glycosylation, Type Iie
Low anterior hairline, Short nose, Hepatomegaly, Jaundice, Hypertrichosis, Splenomegaly, Wide nose OMIM:608779
Mannosidosis, Alpha B, Lysosomal
Low anterior hairline, Vacuolated lymphocytes, Hepatomegaly, Thick eyebrow, Hypertrichosis, Splen... OMIM:248500
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Ascites, Splenomegaly, Pancre... OMIM:276700
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Short nose, Neuroblastoma, Polysplenia, Wide nasal bridge, Neoplasm, Pancreatic i... ORPHA:373
Q Fever
Pleural effusion, Granuloma, Pneumonia, Thrombocytopenia, Hepatomegaly, Hepatitis, Splenomegaly, ... ORPHA:781
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Hereditary Orotic Aciduria
Wide nasal bridge, Recurrent respiratory infections, Anemia, Splenomegaly ORPHA:30
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Periportal fibrosis, Hamartoma of tongue, Atelectasis, Hypoplastic nipples, ... OMIM:269860
Familial Mediterranean Fever
Peritonitis, Pleuritis, Leukocytosis, Pleural effusion, Orchitis, Hepatomegaly, Splenomegaly, Neu... OMIM:249100
Whipple Disease
Pleuritis, Hepatomegaly, Anemia, Splenomegaly, Mediastinal lymphadenopathy ORPHA:3452
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Neoplasm of the liver, Chol... ORPHA:77293
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Hypertrichosis, Tracheobronchomalacia, Splenomegaly OMIM:309900
Mucopolysaccharidosis Type 6
Sinusitis, Recurrent upper respiratory tract infections, Splenomegaly ORPHA:583
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Primary hyperparathyroidism, Anemia, Splenomegaly OMIM:239200
Kikuchi-Fujimoto Disease
Lymphocytosis, Pleural effusion, Generalized lymphadenopathy, Neutropenia, Enlargement of parotid... ORPHA:50918
Lysinuric Protein Intolerance
Hemophagocytosis, Pulmonary hemorrhage, Intraalveolar phospholipid accumulation, Sparse hair, Thr... OMIM:222700
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Proteus Syndrome
Ovarian neoplasm, Neoplasm, Bronchogenic cyst, Thymus hyperplasia, Lymphangioma, Depressed nasal ... ORPHA:744
Mucopolysaccharidosis, Type Vi
Recurrent upper respiratory tract infections, Hirsutism, Hepatomegaly, Splenomegaly, Depressed na... OMIM:253200
Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Glycogen Storage Disease Ii
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly OMIM:232300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Mucopolysaccharidosis Type 1
Low anterior hairline, Recurrent respiratory infections, Splenomegaly, Sinusitis, Generalized hir... ORPHA:579
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Abnorm... OMIM:181000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Spl... ORPHA:280365
Refsum Disease
Splenomegaly ORPHA:773
Multiple Sulfatase Deficiency
Hepatomegaly, Anteverted nares, Splenomegaly OMIM:272200
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Absent eyebrow, Cholelithiasis, Thrombocytopenia, Loss of eyelashes, Hypertrich... OMIM:263700
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Premature graying of hair, Underdeveloped ... ORPHA:163746
Lymphatic Malformation 6
Hydrocele testis, Pleural effusion, Splenomegaly, Ascites, Chylothorax, Intestinal lymphangiectasia OMIM:616843
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Hirsutism, Splenomegaly OMIM:613327
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:231005
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Lung abscess, Epididymitis, Thrombocytosis, Pulmonary granulomatosis, Abnormal respiratory system... ORPHA:1304
Hurler Syndrome
Wide nasal bridge, Hepatomegaly, Thick eyebrow, Splenomegaly, Generalized hirsutism, Abnormality ... ORPHA:93473
Biotinidase Deficiency
Hepatomegaly, Alopecia, Splenomegaly OMIM:253260
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:90051
Ambiguous genitalia, Anomalous pulmonary venous return, Short nose, Splenomegaly, Depressed nasal... ORPHA:35107
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatic steatosis, Clitoral hypertrophy, Hirsutism, Polycystic ovaries, Acute pancreat... OMIM:608594
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Accessory spleen, Ambiguous genitalia, male, Abnormali... OMIM:249000
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Pleuritis, Leukocytosis, Orchitis, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy ORPHA:32960
Cranioectodermal Dysplasia 2
Sparse eyebrow, Sparse hair, Polysplenia, Biliary cirrhosis, Cholestasis, Hepatomegaly, Cholangit... OMIM:613610
Mucopolysaccharidosis Type 3
Respiratory tract infection, Recurrent tonsillitis, Thick hair, Hirsutism, Coarse hair, Synophrys... ORPHA:581
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatic steatosis, Clitoral hypertrophy, Hirsutism, Polycystic ovaries, Acute pancreat... OMIM:269700
Gaucher Disease Type 3
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Anemia,... ORPHA:77261
Pearson Syndrome
Exocrine pancreatic insufficiency, Reticulocytosis, Hepatic steatosis, Macronodular cirrhosis, Ne... ORPHA:699
Cockayne Syndrome A
Cryptorchidism, Slender nose, Sparse hair, Dry hair, Thymic hormone decreased, Hepatomegaly, Sple... OMIM:216400
D-Bifunctional Protein Deficiency
Hepatic steatosis, Fetal ascites, Cholestasis, Hepatomegaly, Splenomegaly, Bile duct proliferatio... OMIM:261515
Familial Mediterranean Fever
Peritonitis, Pleuritis, Orchitis, Ascites, Pancreatitis, Splenomegaly, Lymphadenopathy ORPHA:342
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Polycythemia, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension, ... ORPHA:309854
Mucolipidosis Type Ii
Dry hair, White hair, Recurrent respiratory infections, Left ventricular hypertrophy, Splenomegal... ORPHA:576
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Pulmonary fibrosis, Cholelithiasis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis... ORPHA:2072
Hajdu-Cheney Syndrome
Low anterior hairline, Coarse hair, Synophrys, Wide nasal bridge, Hepatomegaly, Thick eyebrow, Sp... ORPHA:955
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Abnormal lung lobation, Short nose, Enlarged kidney, Embryonal neoplasm, Polysple... OMIM:312870
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Premature graying of hair, Microcytic anemia, Recurrent upper respiratory tract inf... OMIM:256040
Cockayne Syndrome B
Cryptorchidism, Slender nose, Sparse hair, Dry hair, Abnormal hair morphology, Hepatomegaly, Sple... OMIM:133540
Multiple Myeloma
Pleural effusion, Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
22Q11.2 Deletion Syndrome
Cryptorchidism, Abnormal lung lobation, Abnormality of the uterus, Bulbous nose, Choanal atresia,... ORPHA:567
Reynolds Syndrome
Hepatomegaly, Jaundice, Biliary cirrhosis, Splenomegaly OMIM:613471
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Recurrent pneumonia, Anemia, Splenomegaly OMIM:612301
Niemann-Pick Disease Type C
Bone-marrow foam cells, Abnormal lung morphology, Pulmonary infiltrates, Fetal ascites, Hepatomeg... ORPHA:646
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Hepatomegaly, Anemia, Splenomegaly, Pulmonary artery stenosis, Recur... ORPHA:667
Hepatoerythropoietic Porphyria
Hemolytic anemia, Scarring alopecia of scalp, Erythroid hyperplasia, Facial hypertrichosis, Loss ... ORPHA:95159
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Splenomegaly ORPHA:565612
Behçet Disease
Pleuritis, Pleural effusion, Orchitis, Pancreatitis, Splenomegaly, Hemoptysis, Pulmonary infiltra... ORPHA:117
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Nodular regenerative hyperplasia of liv... ORPHA:404454
Gaucher Disease
Cirrhosis, Pulmonary fibrosis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Hepatitis, Abnormal ... ORPHA:355
Blau Syndrome
Abnormal salivary gland morphology, Lymphadenopathy, Anemia, Splenomegaly, Abnormality of the liv... ORPHA:90340
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair, Hepatomegaly, Splenomegaly, Narrow nose ORPHA:90324
Okamoto Syndrome
Bifid uterus, Short nose, Underdeveloped nasal alae, Facial hypertrichosis, Wide nasal bridge, Ex... ORPHA:2729
Mucopolysaccharidosis Type 2, Severe Form
Recurrent upper respiratory tract infections, Enlarged tonsils, Wide nasal bridge, Increased size... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent upper respiratory tract infections, Enlarged tonsils, Wide nasal bridge, Increased size... ORPHA:217093
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Enlarged tonsils, Wide nasal bridge, Hepatomegaly, ... ORPHA:580
Short nose, Macroorchidism, Wide nasal bridge, Hepatomegaly, Splenomegaly, Recurrent respiratory ... ORPHA:93
Cystinosis, Nephropathic
Hypopigmentation of hair, Male hypogonadism, Exocrine pancreatic insufficiency, Hepatomegaly, Spl... OMIM:219800
Cockayne Syndrome
Cryptorchidism, Dry hair, Hepatomegaly, Splenomegaly, Fine hair ORPHA:191
Camurati-Engelmann Disease
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hypogonadism ORPHA:1328
Lymphadenitis, Acute infectious pneumonia, Hepatomegaly, Splenomegaly, Hemoptysis, Enlarged mesen... ORPHA:707
African Trypanosomiasis
Hepatomegaly, Jaundice, Abnormal prolactin level, Alopecia, Splenomegaly, Hepatosplenomegaly, Lym... ORPHA:3385
Tropical Endomyocardial Fibrosis
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Eosinophilia ORPHA:75565
Alström Syndrome
Hirsutism, Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver physiol... ORPHA:64
Hepatomegaly, Splenomegaly, Abnormal erythrocyte enzyme level, Acanthocytosis ORPHA:2388


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 Tbrg1

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 Tbrg1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Myst2/Kat7 histone acetyltransferase interaction proteomics reveals tumour-suppressor Niam as a novel binding partner in embryonic stem cells. Scientific reports (August 2017) Tbrg1tm1a(KOMP)Wtsi PMC5557939
NIAM-deficient mice are predisposed to the development of proliferative lesions including B-cell lymphomas. PloS one (November 2014) Tbrg1tm1a(KOMP)Wtsi PMC4231569

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Tbrg1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tbrg1tm48088(pL1L2_GT0_DelLacZ_bsd) 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