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Gene: Rnase12 MGI:3528588

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Gene Summary

Name:
ribonuclease, RNase A family, 12 (non-active)
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Rnase12em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Rnase12em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Rnase12em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Rnase12em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Rnase12em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Rnase12em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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Human diseases caused by Rnase12 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 Rnase12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Ethanolaminosis
Cardiomegaly OMIM:227150
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Kerion Celsi
Lymphadenopathy ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:858
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr... ORPHA:543
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... OMIM:615631
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:269920
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis ORPHA:85414
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:608540
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatomegaly OMIM:602390
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells OMIM:607616
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy OMIM:609981
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m... OMIM:256550
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Klatskin Tumor
Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, Lymphadenopathy, ... ORPHA:507
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta... ORPHA:824
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Amyloidosis, Hereditary Systemic 2
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hemochromatosis, Type 1
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular carc... OMIM:235200
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:616719
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:603909
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti... OMIM:301078
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia, Anemia, Abnorm... ORPHA:54251
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Desmoplastic Small Round Cell Tumor
Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastinal lymph... ORPHA:83469
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia OMIM:620514
Joubert Syndrome 33
Splenomegaly OMIM:617767
Roifman Syndrome
Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa... OMIM:616651
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect OMIM:616589
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly OMIM:300635
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy OMIM:600649
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Polysplenia, Atrioventricular canal defect, Dextrotransp... OMIM:613751
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly OMIM:620210
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:79312
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:3162
Harderoporphyria
Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Hemolytic anemia OMIM:618892
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Prolonged neonatal jaundice, Ly... OMIM:257200
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... OMIM:616028
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Aggressive Systemic Mastocytosis
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... ORPHA:98850
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat... ORPHA:3392
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Scrub Typhus
Myocarditis, Splenomegaly, Lymphadenopathy ORPHA:83317
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Castleman Disease
Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Follicular hyperplasia, Generalized lymp... ORPHA:160
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath... ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... OMIM:212140
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... ORPHA:549
Congenital Rubella Syndrome
Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, Thrombocytopenia, Hepatome... ORPHA:290
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Myocarditis, Anemia, Generali... ORPHA:829
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Wolman Disease
Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Mulibrey Nanism
Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia... ORPHA:158061
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... ORPHA:79456
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly OMIM:235555
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ... OMIM:606003
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormal lymph node morphology ORPHA:677
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Lymphadenopathy, Thrombocytopenia, Neutrophili... OMIM:619644
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in pre... OMIM:613179
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericardia... ORPHA:36412
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega... OMIM:612783
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ... ORPHA:398124
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites OMIM:614702
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Mitral valve p... OMIM:602782
Cinca Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab... ORPHA:1451
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Cholestasis, Leukocytosi... OMIM:615895
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... OMIM:233710
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Gaucher Disease, Type I
Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepat... OMIM:230800
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly... ORPHA:2686
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... OMIM:607765
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Budd-Chiari Syndrome
Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ... ORPHA:131
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Q Fever
Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the liver, Splenom... ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... OMIM:233690
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Papa Syndrome
Lymphadenopathy ORPHA:69126
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Cirrhosis, Cholangiocarcinoma, H... ORPHA:465508
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi... OMIM:304790
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly... ORPHA:809
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly OMIM:617591
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... OMIM:613812
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:294
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Abnormal natural k... ORPHA:79124
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis ORPHA:91138
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Anemia, Lymphadenop... OMIM:603553
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega... OMIM:267700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, ... ORPHA:540
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric... ORPHA:31150
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:618641
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy ORPHA:100080
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... ORPHA:231222
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p... OMIM:614700
Cirrhotic Cardiomyopathy
Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice... ORPHA:57777
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis ORPHA:42
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra... OMIM:214500
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Agammaglobulinemia, X-Linked
Cor pulmonale, Lymph node hypoplasia, B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anem... OMIM:300755
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly ORPHA:99812
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... OMIM:618278
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... OMIM:610377
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Hepatomegaly OMIM:300842
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Eosinophilia, Lymphocytosis, Lymphadenopathy, Myocarditis ORPHA:139402
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia OMIM:260920
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Gaucher Disease, Perinatal Lethal
Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:608013
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatosplenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:85450
Gray Platelet Syndrome
Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia OMIM:139090
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Spl... ORPHA:77259
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia... ORPHA:1572
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto... ORPHA:79330
Poems Syndrome
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Lymphadenopathy, Thrombocytosis, Hepatomegaly... ORPHA:2905
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Anemia, Lymph... ORPHA:50918
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe... ORPHA:98813
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... OMIM:607626
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve prolapse, Hepatomegaly, Rig... OMIM:620233
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... ORPHA:97289
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ... OMIM:306400
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ascites, Ventricular septal defect OMIM:616897
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyto... ORPHA:93552
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy ORPHA:100082
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia OMIM:617099
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231214
Acute Promyelocytic Leukemia
Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl... ORPHA:288
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte... ORPHA:100086
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Hepatosplenomegaly, Pancytopeni... OMIM:615688
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Bronchial Neuroendocrine Tumor
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy ORPHA:97287
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... OMIM:257220
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Ventricular septa... OMIM:614921
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia ORPHA:293173
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Waldenström Macroglobulinemia
Normocytic anemia, Leukemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils ORPHA:33226
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy ORPHA:100093
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane... OMIM:616084
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Graft Versus Host Disease
Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Chronic hepatitis, Acute hepatitis, Jaundice ORPHA:39812
Hyperlipoproteinemia, Type Id
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Anemia, ... ORPHA:77261
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Splenomegaly, Peritonitis, Abnormal myocardium morphology, Lymphadenopathy, Pericar... ORPHA:32960
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h... ORPHA:567983
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome... OMIM:263200
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Anemia, Pancreatit... ORPHA:499009
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... OMIM:615934
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Primary Hepatic Neuroendocrine Carcinoma
Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra... ORPHA:100085
Immunodeficiency 31C
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Impaired lymphocyte tran... OMIM:614162
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Carney Triad
Ascites, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Incr... OMIM:620376
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Splenomegaly, Pancre... ORPHA:565612
Farber Disease
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch... ORPHA:333
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:230000
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Syndromic Diarrhea
Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, Abnormality of the... ORPHA:84064
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,... ORPHA:30391
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Cardiomegaly, Hepatic calcification, H... OMIM:608836
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:610717
Multiple Myeloma
Anemia, Splenomegaly, Lymphadenopathy ORPHA:29073
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe... OMIM:261740
Brucellosis
Liver abscess, Hypersplenism, Abnormality of the liver, Leukopenia, Splenomegaly, Abnormal aortic... ORPHA:1304
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Adenoiditis, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitr... ORPHA:581
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co... ORPHA:83471
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal myocardium morph... ORPHA:228308
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Iron deficiency anemia, Chronic noninfect... ORPHA:100075
Hennekam Syndrome
Ascites, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Pericardial effu... ORPHA:2136
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Dilated cardiomyopathy, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomega... ORPHA:3260
Familial Mediterranean Fever
Ascites, Leukocytosis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, Pericarditis ORPHA:342
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis, Enlarged kidney ORPHA:168569
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal defect, Cholestasis, Ly... OMIM:619573
Neuroblastoma
Anemia, Abdominal mass, Lymphadenopathy, Thrombocytopenia ORPHA:635
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Lymphadenopathy, Lymphangi... ORPHA:2035
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hepatitis, Splenomegaly, Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Ne... ORPHA:37042
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Tricuspid stenosis, Extrahepatic cholestasis, Pulmonic s... ORPHA:100078
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Lymphangioleiomyomatosis
Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy, Ch... ORPHA:538
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:667
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:252500
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Aicardi-Goutieres Syndrome 7
Hepatitis, Hypertrophic cardiomyopathy, Pancytopenia, Hemolytic anemia, Splenomegaly, Hepatic ste... OMIM:615846
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri... ORPHA:75565
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Cherubism
Submandibular lymph node enlargement OMIM:118400
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive... ORPHA:331235
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cardiomegaly, Pancreatitis OMIM:620371
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Coccidioidomycosis
Abnormality of the spleen, Abnormality of the liver, Peritonitis, Eosinophilia, Pancreatitis, Lym... ORPHA:228123
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P... ORPHA:731
Behçet Disease
Splenomegaly, Abnormal myocardium morphology, Lymphadenopathy, Pancreatitis, Endocarditis, Perica... ORPHA:117
Abetalipoproteinemia
Hepatic fibrosis, Acanthocytosis, Hepatic steatosis, Reticulocytosis, Cardiomegaly, Anemia, Cirrh... ORPHA:14
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Hepatomegal... OMIM:181000
Kawasaki Disease
Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pulm... ORPHA:2331
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly OMIM:256040
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Acute pancreatitis, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, ... ORPHA:99827
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega... ORPHA:51
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Eosinophilia, Lymphadenopathy, Cholangitis, Retroperitoneal fibrosis ORPHA:449432
Igg4-Related Kidney Disease
Lymphadenitis, Retroperitoneal fibrosis, Abnormal mesentery morphology, Cholecystitis, Sclerosing... ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Splenomegaly... OMIM:619381
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy ORPHA:100079
Ogden Syndrome
Secundum atrial septal defect, Polycythemia, Patent foramen ovale, Ventricular septal defect, Car... OMIM:300855
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Beckwith-Wiedemann Syndrome
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ... ORPHA:116
Bohring-Opitz Syndrome
Cardiomegaly, Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatoblastoma, Hepatomegaly, Enlarged kidney OMIM:130650
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Blau Syndrome
Abnormality of the liver, Splenomegaly, Lymphadenopathy, Anemia, Pericarditis ORPHA:90340
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Leptospirosis
Hepatitis, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice, Pericarditis ORPHA:509
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Sarcoidosis
Abnormal lymph node morphology, Leukopenia, Portal hypertension, Increased T cell count, Anemia, ... ORPHA:797
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Decrease... ORPHA:289390
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Igg4-Related Ophthalmic Disease
Eosinophilia, Pancreatitis, Lymphadenopathy, Cholangitis, Retroperitoneal fibrosis ORPHA:449563
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:536
Plague
Lymphadenitis, Splenomegaly, Hepatomegaly, Enlarged mesenteric lymph node, Endocarditis ORPHA:707
African Trypanosomiasis
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly, Jaundice, Pericarditis ORPHA:3385
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis ORPHA:79078
Williams Syndrome
Cholelithiasis, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitral valve prolapse, Ventricu... ORPHA:904
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial septal defect ORPHA:3472
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Neoplasm of the thymus, L... ORPHA:99889
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Cardiomegaly, Pancreatic calcification, Hepatic calcification, ... ORPHA:51608
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250

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 Rnase12

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 Rnase12.

No publications found that use IMPC mice or data for Rnase12.

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MGI Allele Allele Type Produced
Rnase12em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Rnase12tm388929(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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