Gene Summary

Name:
chemokine (C-C motif) ligand 25
Synonyms:
TECK,  CKb15,  Scya25

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
increased grip strength Ccl25em1(IMPC)H HOM   Late adult 2.85×10-05
decreased fasting circulating glucose level Ccl25em1(IMPC)H HOM Early adult 7.60×10-05
enlarged spleen Ccl25em1(IMPC)H HOM Late adult 0.00
increased spleen weight Ccl25em1(IMPC)H HOM Late adult 2.70×10-06

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.

Phenotype associated images not available

Human diseases caused by Ccl25 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 Ccl25 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Foll... OMIM:614470
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... ORPHA:277
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Burkitt Lymphoma
Abnormality of the lymph nodes, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Immunodeficiency 81
Impaired neutrophil chemotaxis, Autoimmune hemolytic anemia, Abnormally low T cell receptor excis... OMIM:619374
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 32B
Splenomegaly OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Lymphadenopathy OMIM:212050
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis OMIM:613313
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased proportion... OMIM:619375
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Abnormality of the lymph nodes, Extramedu... OMIM:612840
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Lymphadenopathy,... OMIM:603554
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Cholesteryl Ester Storage Disease
Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:75234
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia, Autoimmune hemolyti... ORPHA:911
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Anemia, Liver abscess, Abnormality of the lymph nodes, Abnormality of the lymphatic... ORPHA:54251
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... ORPHA:331206
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Abscess, Granuloma, Hemol... OMIM:618935
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation with phytohema... OMIM:600802
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Hepatomegaly OMIM:602390
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly OMIM:605309
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnormal hemogl... ORPHA:848
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrhosis OMIM:613812
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice, Increased mean ... OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly ORPHA:93476
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Cirrhosis OMIM:613027
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:235555
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Prolonged neonatal ... OMIM:300908
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Portal hypertension, Periportal fibrosis, Hepatosplenomegaly, Hepa... OMIM:278000
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Ascites, C... ORPHA:131
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Acholic sto... OMIM:607765
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
X-Linked Lymphoproliferative Disease
Pancytopenia, T lymphocytopenia, Hepatosplenomegaly, Bone marrow hypocellularity, Histiocytosis, ... ORPHA:2442
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:618641
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Depletion of mitochond... OMIM:251880
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Ascites, Cirrhosis, Cardiomegaly, Hepatocellular carcinoma OMIM:235200
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic a... ORPHA:288
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
S├ęzary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... ORPHA:905
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... ORPHA:829
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir... OMIM:606003
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly OMIM:205400
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158061
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Essential Thrombocythemia
Splenomegaly, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Sitosterolemia 1
Abnormality of the liver, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocytosis... OMIM:210250
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepato... OMIM:263200
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... ORPHA:39041
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Portal hypertension, Leukocytosis, Cholestasis, Cholangitis, C... ORPHA:53035
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:612387
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Hyperlipoproteinemia, Type I
Pancreatitis, Hepatosplenomegaly, Jaundice, Splenomegaly OMIM:238600
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Gray Platelet Syndrome
Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia OMIM:139090
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Fulminant hepatitis, ... ORPHA:2137
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Anemia, Ascites,... ORPHA:77259
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia... OMIM:612541
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Liver abscess, Mediastinal lymphadenopathy ORPHA:379
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Scheie Syndrome
Splenomegaly, Hepatomegaly ORPHA:93474
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Niemann-Pick Disease, Type C1
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:257220
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:607625
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231214
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233700
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Bil... ORPHA:567983
Gaucher Disease, Type Iiic
Pancytopenia, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:231005
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233690
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Lymphopenia OMIM:617591
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomegaly, Hepatome... OMIM:610199
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Atretic gallbladder, Splenomegaly, Hep... ORPHA:30391
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Cervical lymphadenopathy, Generalized lymphadenopathy, Neutropenia, Ane... ORPHA:50918
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Leukopenia, Normocytic anemia, Cholestasis,... OMIM:300972
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly OMIM:612918
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly, Lymphadenopathy OMIM:260920
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, N... ORPHA:158048
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly ORPHA:53715
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver absces... OMIM:306400
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphadeno... ORPHA:1572
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Enlarged kidney, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangiti... ORPHA:731
Tyrosinemia, Type I
Enlarged kidney, Pancreatic islet-cell hyperplasia, Splenomegaly, Hepatomegaly, Ascites, Cirrhosi... OMIM:276700
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:613471
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677

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 Ccl25

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 Ccl25.

No publications found that use IMPC mice or data for Ccl25.

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
Ccl25tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ccl25tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccl25em1(IMPC)H Exon Deletion Mice
Ccl25tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccl25tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ccl25em2(IMPC)H Exon Deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter