banner
Genes Phenotypes Help, News, Blog

Gene: Rffl MGI:1914588

Log in to follow

Gene Summary

Name:
ring finger and FYVE like domain containing protein
Synonyms:
4930516L10Rik,  rififylin,  Carp-2,  Carp2,  fring,  1700051E09Rik

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 thymus morphology Rfflem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Rfflem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Rfflem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Rfflem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart shape Rfflem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Rfflem1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

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

16 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

View images
X-ray

XRay Images Hind Leg and Hip

32 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

32 Images

View images
X-ray

XRay Images Skull Lateral Orientation

16 Images

View images

Human diseases caused by Rffl 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 Rffl 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
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ectopia of the spleen, Atrioventricular canal defect, Ventricular septal defect OMIM:613751
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis OMIM:613313
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... ORPHA:93476
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis OMIM:602390
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... ORPHA:79301
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia OMIM:601086
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis... ORPHA:848
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:616719
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Immunodeficiency 32B
Splenomegaly OMIM:226990
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... OMIM:617394
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Hyperparathyroidism, Splenomegaly OMIM:618107
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Splenomegaly OMIM:121300
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:85414
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... OMIM:616828
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... OMIM:602347
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Thrombocytopenia ORPHA:79312
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:75234
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune... OMIM:613011
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Harderoporphyria
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Splenomegaly, Atrial septal defect, Thrombocytop... ORPHA:290
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Hypersplenism, Right atrial enlar... OMIM:616028
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... OMIM:612541
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, Cardiomyopat... OMIM:256550
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... OMIM:606003
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Sp... ORPHA:829
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy... OMIM:235200
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Abnormal heart morphology, Anemia, Splenomegal... ORPHA:398124
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... OMIM:609981
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Mevalonic Aciduria
Splenomegaly ORPHA:29
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Ascites, Splenomegaly ORPHA:1046
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Splenomeg... OMIM:616651
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice OMIM:613812
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615846
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Jaundice ORPHA:108
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252900
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Cardiomyopathy, Splenomegaly OMIM:619046
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splen... ORPHA:77259
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Wolman Disease
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly ORPHA:75233
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia, Aortic valve s... OMIM:230800
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... ORPHA:822
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis OMIM:613027
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... ORPHA:158057
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Splenomegaly, Cholestasis OMIM:615630
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly OMIM:608885
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly OMIM:205400
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Hypoparathyroidism, Elevated hepatic iron concentration, Hepatocellul... ORPHA:231222
Felty Syndrome
Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Abnormal lymphocyte morphology, Bone ma... ORPHA:47612
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Abnormal heart morphol... ORPHA:370
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Splenomegaly OMIM:201100
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypoparathyroidism, Hepatic fibrosis, Hypochromic microcytic anemia, Hepa... ORPHA:231226
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Acute... OMIM:618935
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... ORPHA:131
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... ORPHA:288
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... OMIM:607765
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hepatic fibrosis, ... ORPHA:231214
Legionnaires Disease
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity,... ORPHA:549
Juvenile Idiopathic Arthritis
Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusion, Splenomegaly ORPHA:92
Primary Lipodystrophy
Polycystic ovaries, Pancreatitis, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:90970
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericardial effusion, Lymphangioma, Abnor... ORPHA:464329
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... OMIM:308230
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Vacuolated lymphocytes, Spleno... OMIM:230500
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Splenomegaly, Hepatospl... OMIM:614866
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Thr... ORPHA:905
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... ORPHA:158061
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:618641
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Ascites, Lymphadenopathy, Splenomegaly, Abnormal heart valve ... ORPHA:36412
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepati... ORPHA:2348
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252930
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90033
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, ... OMIM:257200
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Lymphadenopathy, Hep... ORPHA:781
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Car... ORPHA:465508
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrho... ORPHA:79083
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... OMIM:263200
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Splenomegaly ORPHA:583
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the liver, Viral hepatitis ORPHA:91138
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252940
Gaucher Disease Type 3
Hepatomegaly, Pericardial effusion, Mitral valve calcification, Anemia, Splenomegaly, Abnormal he... ORPHA:77261
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Syndromic Diarrhea
Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Bicuspid aortic valve, Hepatic fibr... ORPHA:84064
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Ascites, Thyroid lymphangiec... OMIM:235255
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Lymphadeno... OMIM:602782
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis, Leukopenia, Lymphadenopathy... ORPHA:809
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Cardiomyopathy, Sideroblastic a... OMIM:616084
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi... OMIM:259720
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Polycystic ovaries, Hepatocellular adenoma, Anem... ORPHA:264580
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... OMIM:102700
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... ORPHA:2137
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess ORPHA:379
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
X-Linked Lymphoproliferative Disease
Myocarditis, Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymp... ORPHA:2442
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Ascites, Splenomegaly, Hepat... ORPHA:1655
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Ventricular septal defect, Macronodular cirrhosis... OMIM:619418
Niemann-Pick Disease, Type C1
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... OMIM:257220
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Coronary artery stenosis, Vacuolated lymphocytes, Pancreatitis, Cardiomyopathy, Spl... ORPHA:565612
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia... OMIM:603553
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233710
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia OMIM:617591
8P11.2 Deletion Syndrome
Hemolytic anemia, Mitral valve prolapse, Splenomegaly, Atrial septal defect, Cryptorchidism, Sphe... ORPHA:251066
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytos... OMIM:267700
Niemann-Pick Disease, Type C2
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... OMIM:607625
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Atretic gallbladder, Bile duct proliferation, Splenomegaly, Cirrhos... ORPHA:30391
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:306400
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... OMIM:613179
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Lymphadenopathy, ... OMIM:615688
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cirrh... OMIM:276700
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Pericarditis, Peritonitis, Splenomegaly, Neutrophilia, Orchitis OMIM:249100
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Splenomegaly, Ci... OMIM:300972
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Peritonitis, Lymphadenopathy, Splenomegaly, Orchitis, Abnormal myocar... ORPHA:32960
Mastocytosis
Hepatomegaly, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly OMIM:260920
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Primary hyperparathyroidism, Anemia, Splenomegaly OMIM:239200
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopeni... ORPHA:158048
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Polycythemia, Micronodular cirrhosis, Splenomegaly, Ab... ORPHA:309854
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly OMIM:612918
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Polycythemia Vera
Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly ORPHA:729
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... ORPHA:1572
Pearson Syndrome
Hepatomegaly, Hypoparathyroidism, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Abnormal... ORPHA:699
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Lymphatic Malformation 6
Ascites, Splenomegaly, Intestinal lymphangiectasia, Atrial septal defect, Hydrocele testis OMIM:616843
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Brucellosis
Myocarditis, Leukocytosis, Hepatomegaly, Thrombocytosis, Pericarditis, Leukopenia, Endocarditis, ... ORPHA:1304
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality of the l... ORPHA:50918
Hardikar Syndrome
Cholangitis, Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Intrahepatic bile duct cy... OMIM:301068
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... ORPHA:731
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Polycystic ovaries, Ventricular septal hypertrophy, Sp... OMIM:269700
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Familial Mediterranean Fever
Pericarditis, Ascites, Peritonitis, Lymphadenopathy, Pancreatitis, Splenomegaly, Orchitis ORPHA:342
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Hepatomegaly, Splenomegaly OMIM:617088
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Acute promyelocytic... ORPHA:77293
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polycystic ovaries, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... OMIM:608594
Reynolds Syndrome
Jaundice, Hepatomegaly, Biliary cirrhosis, Splenomegaly OMIM:613471
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusi... OMIM:181000
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Neoplasm of the thymus, Lymphangioma, Splen... ORPHA:744
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Ascites, C... ORPHA:75565

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 Rffl

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 Rffl.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

MGI Allele Allele Type Produced
Rfflem1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Rffltm40(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

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

Subscribe to newsletter