Gene Summary

Name:
RUN and FYVE domain containing 4
Synonyms:
F930048N03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Rufy4em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Rufy4em1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Rufy4em1(IMPC)Mbp HOM Early adult 3.85×10-05

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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 Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Rufy4 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 Rufy4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Trimethylaminuria
Depression, Neutropenia, Anemia, Splenomegaly OMIM:602079
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Coproporphyria, Hereditary
Depression, Hepatomegaly, Jaundice, Anxiety, Splenomegaly OMIM:121300
Farber Lipogranulomatosis
Hepatomegaly, Irritability, Lipogranulomatosis, Splenomegaly OMIM:228000
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Gaucher Disease, Type Iii
Depression, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Irritability, Anemi... ORPHA:848
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Immunodeficiency 32B
Splenomegaly OMIM:226990
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Irritability, Hepatomegaly OMIM:615846
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Irritability, Emotional lability, Splenomegaly OMIM:201100
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Babesiosis
Hemolytic anemia, Depression, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Wilson Disease
Acute hepatitis, Cirrhosis, Aggressive behavior, Depression, Hypersexuality, Hepatic steatosis, T... ORPHA:905
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Irritability, Splenomegaly OMIM:613489
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Glycogen Storage Disease Ixc
Hepatomegaly, Bile duct proliferation, Cirrhosis, Splenomegaly OMIM:613027
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Mevalonic Aciduria
Splenomegaly ORPHA:29
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Aggressive behavior, Cardiomegaly, Splenomegaly OMIM:252920
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Depression, Viral hepatitis, Hepatocellular carcinoma, Sclerosing cho... ORPHA:2137
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly OMIM:256550
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:618641
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly OMIM:235200
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly ORPHA:2785
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly... ORPHA:39041
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
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
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cholestasis OMIM:615630
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly ORPHA:61
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Splenomegaly, Irritabil... OMIM:603553
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Irritability, Anemia, L... OMIM:267700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morpholo... ORPHA:464329
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Splenomegaly OMIM:608799
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Apathy, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Cholangiocarcinoma, Sple... ORPHA:465508
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Jaundice, Hepatomegaly, I... ORPHA:525731
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis, Hepatic fibrosis, Jaundice, He... ORPHA:567983
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly OMIM:251290
Prolidase Deficiency
Thrombocytopenia, Prolonged neonatal jaundice, Hepatomegaly, Anemia, Splenomegaly OMIM:170100
Gaucher Disease, Perinatal Lethal
Apathy, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Ascites, Hepatospleno... OMIM:608013
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233710
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Cholestatic liver diseas... ORPHA:540
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:257220
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:92
Aredyld Syndrome
Hepatomegaly, Splenomegaly ORPHA:1133
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:2348
Legionnaires Disease
Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Bone marrow hypocellularity, Lympha... ORPHA:549
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Hepatosplenomegaly OMIM:225750
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
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Cholestasis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:614576
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Coach Syndrome 1
Cirrhosis, Abnormal abdomen morphology, Hepatic fibrosis, Hepatomegaly, Intrahepatic bile duct di... OMIM:216360
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233690
Whipple Disease
Depression, Hepatomegaly, Anemia, Splenomegaly, Mediastinal lymphadenopathy ORPHA:3452
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:607625
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Cholestasis, Hepa... ORPHA:370
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:575
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:259700
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly OMIM:614866
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:231005
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hepatomegaly, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, ... OMIM:235255
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly ORPHA:36412
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly OMIM:252930
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Primary Lipodystrophy
Hepatic steatosis, Cirrhosis, Pancreatitis, Splenomegaly ORPHA:90970
Primary Sclerosing Cholangitis
Cirrhosis, Depression, Hepatocellular carcinoma, Cholelithiasis, Cholestasis, Hepatic fibrosis, J... ORPHA:171
Isolated Biliary Atresia
Cirrhosis, Atretic gallbladder, Periportal fibrosis, Cholestasis, Hepatomegaly, Jaundice, Prolong... ORPHA:30391
Pycnodysostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:763
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Macrovesicular hepatic steatosis, Neutropenia, Thrombocytopenia, Hepatomegaly, S... OMIM:617303
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:809
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatomegaly... ORPHA:264580
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Hepatomegaly, Splenom... ORPHA:77297
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Hypersplenism, Splenomegaly, Portal hypertension OMIM:613385
Sialuria
Hepatomegaly, Splenomegaly OMIM:269921
Sialidosis Type 1
Splenomegaly ORPHA:812
Hermansky-Pudlak Syndrome 2
Neutropenia, Thrombocytopenia, Hepatomegaly, Reduced natural killer cell count, Absent platelet d... OMIM:608233
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly OMIM:252940
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy OMIM:260920
Opsismodysplasia
Hepatomegaly, Splenomegaly ORPHA:2746
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Hardikar Syndrome
Hepatomegaly, Jaundice, Cholangitis, Splenomegaly, Portal hypertension OMIM:612726
Mastocytosis
Chronic leukemia, Hepatomegaly, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly ORPHA:3035
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatomegaly, Pulmonary lymphangiectasia, Ascites, Splenomegaly, Hep... ORPHA:1655
Niemann-Pick Disease Type C
Bone-marrow foam cells, Bipolar affective disorder, Disinhibition, Aggressive behavior, Depressio... ORPHA:646
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Splenomegaly, Schistocytosis OMIM:616084
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Hepatomegaly, Splenomegaly OMIM:612852
Refsum Disease
Splenomegaly ORPHA:773
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Abnormality of the live... ORPHA:1572
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Splenomegaly ORPHA:584
Polycythemia Vera
Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly ORPHA:729
Zimmermann-Laband Syndrome
Hepatomegaly, Splenomegaly ORPHA:3473
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly OMIM:612918
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Leuk... OMIM:615688
Fucosidosis
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230000
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Thrombo... ORPHA:731
Hurler Syndrome
Hepatomegaly, Hepatosplenomegaly, Enlarged tonsils, Splenomegaly OMIM:607014
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly ORPHA:585
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Histiocytosis, Pancreatic hypoplasia, Cardiomegaly, Splenomegaly, Retroperitoneal f... OMIM:602782
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Kagami-Ogata Syndrome
Hepatomegaly, Splenomegaly OMIM:608149
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Anemia, Splenomegaly OMIM:239200
Q Fever
Thrombocytopenia, Hepatomegaly, Hepatitis, Splenomegaly, Anemia, Cholecystitis, Hepatosplenomegal... ORPHA:781
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly OMIM:272200
Niemann-Pick Disease Type B
Cirrhosis, Bipolar affective disorder, Autoimmune thrombocytopenia, Depression, Acute promyelocyt... ORPHA:77293
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Splenomegaly, Leukemia, Lymphadenopathy ORPHA:33226
Mucopolysaccharidosis Type 6
Splenomegaly ORPHA:583
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:90051
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly OMIM:618440
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:248500
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:613327
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Ascites, Splenomegaly, Pancre... OMIM:276700
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Splenomegaly OMIM:253220
Gm1 Gangliosidosis
Hepatosplenomegaly, Splenomegaly ORPHA:354
Choreoacanthocytosis
Hair-pulling, Aggressive behavior, Depression, Apathy, Self-injurious behavior, Self-mutilation o... ORPHA:2388
Prolidase Deficiency
Hepatomegaly, Splenomegaly ORPHA:742
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Splenomegaly OMIM:309900
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly ORPHA:2969
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Polycythemia, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension, ... ORPHA:309854
Reynolds Syndrome
Hepatomegaly, Jaundice, Biliary cirrhosis, Splenomegaly OMIM:613471
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Chronic hepatitis, C... ORPHA:3260
Hurler Syndrome
Hepatomegaly, Depression, Abnormality of the tonsils, Splenomegaly ORPHA:93473
Biotinidase Deficiency
Hepatomegaly, Splenomegaly OMIM:253260
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Jaundice, Splenomegaly OMIM:608779
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus,... ORPHA:84064
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Disinhibition, Aggressive behavior, Hypersexuality, Hepatomegaly, Cardiome... ORPHA:581
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Splenomegaly OMIM:253200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:280365
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
8P11.2 Deletion Syndrome
Spherocytosis, Hemolytic anemia, Splenomegaly ORPHA:251066
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Pancreatitis OMIM:222700
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Cholelithiasis, Splenomegaly OMIM:618268
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomegaly, Splenome... ORPHA:50918
Pearson Syndrome
Exocrine pancreatic insufficiency, Reticulocytosis, Hepatic steatosis, Macronodular cirrhosis, Ne... ORPHA:699
Joubert Syndrome With Hepatic Defect
Cirrhosis, Neoplasm of the liver, Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly, Intrah... ORPHA:1454
Familial Mediterranean Fever
Peritonitis, Leukocytosis, Hepatomegaly, Splenomegaly, Neutrophilia OMIM:249100
Gaucher Disease Type 3
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:77261
Brucellosis
Thrombocytosis, Depression, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormality of the live... ORPHA:1304
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly OMIM:263700
Pachydermoperiostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:2796
Mucopolysaccharidosis Type 1
Abnormality of the tonsils, Splenomegaly ORPHA:579
D-Bifunctional Protein Deficiency
Hepatic steatosis, Fetal ascites, Cholestasis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:261515
Lymphatic Malformation 6
Intestinal lymphangiectasia, Ascites, Splenomegaly OMIM:616843
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Splenomegaly ORPHA:565612
Cranioectodermal Dysplasia 2
Polysplenia, Biliary cirrhosis, Cholestasis, Hepatomegaly, Cholangitis, Left ventricular hypertro... OMIM:613610
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Hennekam Syndrome
Lymphopenia, Pulmonary lymphangiectasia, Ascites, Splenomegaly, Lymphangioma, Lymphadenopathy ORPHA:2136
Desmosterolosis
Splenomegaly ORPHA:35107
Dyskeratosis Congenita
Cirrhosis, Abnormality of neutrophils, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Neop... ORPHA:1775
Gaucher Disease
Cirrhosis, Depression, Pancytopenia, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegaly ORPHA:355
Cardiofaciocutaneous Syndrome 1
Splenomegaly OMIM:115150
Multiple Myeloma
Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Splenomegaly OMIM:612301
Familial Mediterranean Fever
Peritonitis, Ascites, Pancreatitis, Splenomegaly, Lymphadenopathy ORPHA:342
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Anemia, Splenomegaly, Abnormali... ORPHA:2072
Mucopolysaccharidosis Type 2
Aggressive behavior, Enlarged tonsils, Hepatomegaly, Impulsivity, Splenomegaly ORPHA:580
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly OMIM:608594
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Leukocytosis, Lymphadenopathy, Splenomegaly ORPHA:32960
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Ascites, Splenomegaly OMIM:269860
Plague
Depression, Lymphadenitis, Hepatomegaly, Anxiety, Splenomegaly, Enlarged mesenteric lymph node ORPHA:707
African Trypanosomiasis
Aggressive behavior, Apathy, Hepatomegaly, Jaundice, Irritability, Anxiety, Splenomegaly, Hepatos... ORPHA:3385
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly OMIM:269700
22Q11.2 Deletion Syndrome
Bipolar affective disorder, Depression, Cholelithiasis, Thrombocytopenia, Hypoplasia of the thymu... ORPHA:567
Mucolipidosis Type Ii
Hepatosplenomegaly, Left ventricular hypertrophy, Splenomegaly ORPHA:576
Zimmermann-Laband Syndrome 1
Hepatomegaly, Splenomegaly OMIM:135500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly OMIM:617088
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Nodular regenerative hyperplasia of liv... ORPHA:404454
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro... OMIM:249000
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope... ORPHA:79277
Cockayne Syndrome A
Hepatomegaly, Splenomegaly, Thymic hormone decreased OMIM:216400
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Splenomegaly ORPHA:163746
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Pancytopenia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy OMIM:181000
Behçet Disease
Pancreatitis, Irritability, Lymphadenopathy, Splenomegaly ORPHA:117
Simpson-Golabi-Behmel Syndrome
Polysplenia, Hepatoblastoma, Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia ORPHA:373
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Increased size of nasopharyngeal adenoids, Enlarged tonsils, Splenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Increased size of nasopharyngeal adenoids, Enlarged tonsils, Splenomegaly ORPHA:217093
Hepatoerythropoietic Porphyria
Splenomegaly, Erythroid hyperplasia, Hemolytic anemia ORPHA:95159
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Cockayne Syndrome B
Hepatomegaly, Splenomegaly OMIM:133540
Hajdu-Cheney Syndrome
Hepatomegaly, Splenomegaly ORPHA:955
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly ORPHA:90324
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Lymphadenopathy OMIM:256040
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Enlarged kidney, Polycythemia, Visceromegaly, Hepatomegaly, Ca... ORPHA:116
Cystinosis, Nephropathic
Hepatomegaly, Exocrine pancreatic insufficiency, Splenomegaly OMIM:219800
Cockayne Syndrome
Hepatomegaly, Splenomegaly ORPHA:191
Camurati-Engelmann Disease
Hepatomegaly, Anemia, Leukopenia, Splenomegaly ORPHA:1328
Proteus Syndrome
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged polycystic ovaries ORPHA:744
Blau Syndrome
Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy ORPHA:90340
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Polysplenia, Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia OMIM:312870
Tropical Endomyocardial Fibrosis
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Eosinophilia ORPHA:75565
Okamoto Syndrome
Splenomegaly ORPHA:2729
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly ORPHA:93
Alström Syndrome
Cirrhosis, Hepatic steatosis, Abnormal liver physiology, Hepatomegaly, Hepatitis, Hepatic fibrosi... ORPHA:64

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 Rufy4

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 Rufy4.

No publications found that use IMPC mice or data for Rufy4.

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MGI Allele Allele Type Produced
Rufy4em1(IMPC)Mbp Exon Deletion Mice, Tissue
Rufy4tm282817(L1L2_Bact_P) Targeting vectors
Rufy4tm47717(L1L2_Bact_P) Targeting vectors

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