Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
milk fat globule EGF and factor V/VIII domain containing
Synonyms:
Mfgm,  SED1,  MFG-E8,  lactadherin,  EGF/factor VIII

IMPC Data Collections

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

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.

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 Mfge8 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 Mfge8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Nondisjunction
Decreased fertility OMIM:158250
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Increased circulating antibody level, Hepatomegaly, Sp... OMIM:618495
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... OMIM:618852
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
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
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... OMIM:618534
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Hyperhidrosis, Lymphadenopathy, Splenomegaly ORPHA:86893
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Anhidrosis, Splenomegaly OMIM:614979
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Autoimmunity,... OMIM:240500
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Neutropenia in presence of anti-neu... ORPHA:231154
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Rheumatoid factor p... OMIM:209950
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hodgkin Lymphoma
Hepatomegaly, Hyperhidrosis, Lymphadenopathy, Splenomegaly ORPHA:98293
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 36
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sple... OMIM:616005
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Autoimmunity, Panniculitis, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Immunodeficiency 32B
Splenomegaly OMIM:226990
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic anemia, Decreased proportion of C... OMIM:613011
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Hepatomegaly, Juvenile rheumatoid arthritis, Splenomegaly, Lymphadenopathy ORPHA:85414
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Aplastic anem... OMIM:615122
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Antineutrophil antibody positivity, Anti-liver cytosolic antigen type... ORPHA:2137
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly, Hepatomegaly OMIM:615846
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Classic Hodgkin Lymphoma
Hepatomegaly, Hyperhidrosis, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Autoimmune hemolytic anemia, Autoimmunity, Chronic lymphatic leukem... ORPHA:90033
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid arthritis, Abn... ORPHA:100026
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Autoimmune Hemolytic Anemia
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Panniculitis, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:619183
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hyp... OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Nodular Non-Suppurative Panniculitis
Autoimmunity, Panniculitis, Splenomegaly, Hepatomegaly ORPHA:33577
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenal insufficiency, Adrenocorticotropic hormo... OMIM:609981
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Hepatomegaly, Hypereos... OMIM:617388
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Hyperhidrosis, Leukopenia, Splenomegaly ORPHA:108
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Mevalonic Aciduria
Splenomegaly ORPHA:29
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Splenomegaly ORPHA:75233
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly OMIM:201100
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Autoimmunity, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anhidrosis, Lymphad... ORPHA:169090
Hereditary Orotic Aciduria
Patent ductus arteriosus, Aminoaciduria, Abnormality of the ureter, Impaired T cell function, Spl... ORPHA:30
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Omenn Syndrome
Autoimmunity, Leukocytosis, Abnormal lymphocyte morphology, Thyroiditis, Hypothyroidism, Lymphade... ORPHA:39041
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
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, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Glycogen Storage Disease Ixc
Hepatomegaly, Bile duct proliferation, Cirrhosis, Splenomegaly OMIM:613027
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly, Reduced ... OMIM:616050
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Sézary Syndrome
Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Lympha... ORPHA:3162
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Prolidase Deficiency
Systemic lupus erythematosus, Increased circulating antibody level, Thrombocytopenia, Prolonged n... OMIM:170100
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613489
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
American Trypanosomiasis
Hepatomegaly, Autoimmune antibody positivity, Lymphadenopathy, Splenomegaly ORPHA:3386
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Hepatomegaly, Testicular... OMIM:235200
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Hypothyroidism, Extramedullary hematopoiesi... ORPHA:231222
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Autoimmune antibody ... ORPHA:398124
Felty Syndrome
Autoimmunity, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia... ORPHA:47612
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly ORPHA:2785
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Panniculitis, Thrombocytopenia, Hepatomegaly, ... OMIM:617591
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly ORPHA:92
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly OMIM:256550
Pediatric-Onset Graves Disease
Anti-thyroid peroxidase antibody positivity, Graves disease, Increased circulating T4 level, Auto... ORPHA:525731
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:618641
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Q Fever
Anticardiolipin IgG antibody positivity, Cholecystitis, Increased circulating antibody level, Ant... ORPHA:781
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Autoimmunity, Hypothyroidism, Hashimoto thyroiditis, Pancytopenia, Hepatomegaly, Hepatitis, Decre... OMIM:613385
Scrub Typhus
Hyperhidrosis, Lymphadenopathy, Splenomegaly ORPHA:83317
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Antiph... OMIM:225750
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Biliary tract obstruction, Pancytopenia, Thrombo... ORPHA:77259
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Congenital Disorder Of Glycosylation, Type Iil
Hypohidrosis, Cirrhosis, Decreased specific anti-polysaccharide antibody level, Cholestasis, Panc... OMIM:614576
Cryoglobulinemic Vasculitis
Hematuria, Viral hepatitis, Glomerulopathy, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopat... ORPHA:91138
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Decreased circulating antibody level, Neutropenia, Thrombocytopenia, Jaundice, ... ORPHA:540
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Familial Tumoral Calcinosis
Hepatomegaly, Hyperhidrosis, Splenomegaly ORPHA:53715
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Lymphopenia,... ORPHA:1572
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cholestasis OMIM:615630
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly ORPHA:61
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
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
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Hypoplasia of the uterus, Epididymal cyst, Gout, Bicornuate uterus, Hypos... OMIM:137920
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatos... OMIM:260920
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Hyperhidrosis, Splenomegaly ORPHA:71493
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
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
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Mixed Connective Tissue Disease
Hemolytic anemia, Autoimmunity, Hepatomegaly, Xerostomia, Leukopenia, Splenomegaly, Mediastinal l... ORPHA:809
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Splenomegaly OMIM:608799
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly OMIM:251290
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Hepatomegaly, Ascites, Splenomegaly, Lymphadenopathy ORPHA:36412
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Panniculitis, Ha... OMIM:615688
Aredyld Syndrome
Hepatomegaly, Splenomegaly ORPHA:1133
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicu... OMIM:617303
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Hardikar Syndrome
Hydroureter, Patent ductus arteriosus, Recurrent urinary tract infections, Hepatomegaly, Jaundice... OMIM:612726
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropenia, Pneumonia, Myositis, E... ORPHA:37042
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:257220
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly OMIM:612918
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Oligomenorrhea, Hepatic steatosis, Primary amenorrhea, Polycystic ovaries, Hepatomegal... ORPHA:79083
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, L... OMIM:603553
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidis... ORPHA:465508
Multiple Myeloma
Acute kidney injury, Decreased circulating antibody level, Nephropathy, Abnormality of the bladde... ORPHA:29073
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morpholo... ORPHA:464329
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:2348
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly OMIM:252930
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Neutropenia, Thr... OMIM:608233
Legionnaires Disease
Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Bone marrow hypocellularity, Lympha... ORPHA:549
Primary Lipodystrophy
Hepatic steatosis, Cirrhosis, Pancreatitis, Splenomegaly ORPHA:90970
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly ORPHA:3035
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:575
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:231005
Isolated Biliary Atresia
Cirrhosis, Atretic gallbladder, Hypothyroidism, Periportal fibrosis, Hypopituitarism, Cholestasis... ORPHA:30391
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:607625
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis, Hepatic fibrosis, Jaundice, He... ORPHA:567983
Sialuria
Hepatomegaly, Splenomegaly OMIM:269921
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total ... OMIM:612301
Floating-Harbor Syndrome
Cryptorchidism, Recurrent otitis media, Epididymal cyst, Congenital posterior urethral valve, Hyp... OMIM:136140
Mastocytosis
Chronic leukemia, Hepatomegaly, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Fucosidosis
Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Splenomegaly, Anhidrosis OMIM:230000
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Abnormal abdomen morphology, Unilateral renal agenesis, Hepatic fibr... OMIM:216360
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:259700
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly OMIM:252940
Opsismodysplasia
Hepatomegaly, Splenomegaly ORPHA:2746
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Oligomenorrhea, Irregular menstruation, Hepatocellular adenoma, Hepatocellular carcino... ORPHA:370
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Mevalonic Aciduria
Fluctuating hepatomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic hypoplastic anemia, ... OMIM:610377
Primary Sclerosing Cholangitis
Cirrhosis, Polyclonal elevation of IgM, Autoimmunity, Thyroiditis, Hepatocellular carcinoma, Chol... ORPHA:171
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Primary hyperparathyroidism, Anemia, Splenomegaly OMIM:239200
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Synovitis, H... ORPHA:77297
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Sialidosis Type 1
Splenomegaly ORPHA:812
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly OMIM:614866
Pycnodysostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:763
Oculoskeletodental Syndrome
Hepatomegaly, Hypothyroidism, Splenomegaly OMIM:618440
Whipple Disease
Pericarditis, Erectile dysfunction, Hypothyroidism, Uveitis, Hepatomegaly, Encephalitis, Anemia, ... ORPHA:3452
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Anemia, Leukopenia, Hypersplenism, Myoc... ORPHA:1304
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hepatomegaly, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, ... OMIM:235255
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly ORPHA:585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Refsum Disease
Splenomegaly ORPHA:773
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Hepatomegaly, Splenomegaly OMIM:612852
Mucopolysaccharidosis Type 6
Splenomegaly ORPHA:583
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Oligomenorrhea, Irregular menstruation, Hepatocellular adenoma, Hepatic steatosis, Myo... ORPHA:264580
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Splenomegaly ORPHA:584
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Polycythemia Vera
Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly ORPHA:729
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular carcinoma, Glomerular sclerosi... OMIM:276700
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Decreased circulating IgA level, Splenomegaly OMIM:613327
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Splenomegaly, Leukemia, Monoclonal i... ORPHA:33226
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Decreased circulating antibody level, Vacuolated lymphocytes, Splenomegaly OMIM:248500
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly OMIM:272200
Zimmermann-Laband Syndrome
Hepatomegaly, Splenomegaly ORPHA:3473
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Ascites, Hepatosplenomegaly OMIM:608013
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatomegaly, Pulmonary lymphangiectasia, Ascites, Splenomegaly, Hep... ORPHA:1655
Kagami-Ogata Syndrome
Hepatomegaly, Splenomegaly OMIM:608149
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis, Myocarditis ORPHA:892
Pachydermoperiostosis
Seborrheic dermatitis, Elevated circulating growth hormone concentration, Abnormal hair quantity,... ORPHA:2796
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Hypothyroidism, Lymphopenia, Panhypogammaglobulinemia, Increased mean ... ORPHA:84064
Reynolds Syndrome
Hepatomegaly, Jaundice, Biliary cirrhosis, Splenomegaly OMIM:613471
Gaucher Disease Type 3
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splen... ORPHA:77261
Biotinidase Deficiency
Hepatomegaly, Splenomegaly OMIM:253260
Hurler Syndrome
Hepatomegaly, Hepatosplenomegaly, Enlarged tonsils, Splenomegaly OMIM:607014
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly ORPHA:2969
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimuation test, Hepatomegaly, Histiocytosis, Pancreatic hyp... OMIM:602782
8P11.2 Deletion Syndrome
Hemolytic anemia, Azoospermia, Patent ductus arteriosus, Splenomegaly, Hypogonadotropic hypogonad... ORPHA:251066
Prolidase Deficiency
Hepatomegaly, Splenomegaly ORPHA:742
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Leukocytosis, Orchitis, Uveitis, Conjunctivitis, Erysipelas... ORPHA:32960
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Splenomegaly OMIM:253220
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Vacuolate... ORPHA:167
Familial Mediterranean Fever
Peritonitis, Renal amyloidosis, Leukocytosis, Orchitis, Hepatomegaly, Nephrotic syndrome, Stage 5... OMIM:249100
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Splenomegaly OMIM:309900
Cystinosis, Nephropathic
Male hypogonadism, Exocrine pancreatic insufficiency, Generalized aminoaciduria, Renal Fanconi sy... OMIM:219800
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:90051
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Polycythemia, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension, ... ORPHA:309854
Lymphatic Malformation 6
Intestinal lymphangiectasia, Ascites, Hypothyroidism, Splenomegaly OMIM:616843
Kikuchi-Fujimoto Disease
Lymphocytosis, Abnormality of the lymph nodes, Generalized lymphadenopathy, Neutropenia, Thromboc... ORPHA:50918
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Splenomegaly OMIM:253200
Floating-Harbor Syndrome
Cryptorchidism, Epididymal cyst, Congenital posterior urethral valve, Hypospadias, Precocious pub... ORPHA:2044
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Splenomegaly ORPHA:565612
Niemann-Pick Disease Type B
Cirrhosis, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Acute promyelocytic leukemi... ORPHA:77293
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Jaundice, Splenomegaly OMIM:608779
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypohidrosis, Splenomegaly ORPHA:163746
Trichohepatoneurodevelopmental Syndrome
Curly hair, Coarse hair, Cholelithiasis, Synophrys, Hepatomegaly, Hypoplastic nipples, Hypertrich... OMIM:618268
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Elevated circulating thyroid-stimulating hormone concentration, Sparse... OMIM:256040
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Pancreatitis OMIM:222700
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoparathyroidism, Reticulocytosis, Hepatic steatosis, Macron... ORPHA:699
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly OMIM:263700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:280365
Familial Mediterranean Fever
Peritonitis, Orchitis, Nephropathy, Nephrotic syndrome, Ascites, Pancreatitis, Splenomegaly, Neph... ORPHA:342
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Enlarged lacrimal glands, ... OMIM:181000
Gm1 Gangliosidosis
Hepatosplenomegaly, Splenomegaly ORPHA:354
Hennekam Syndrome
Decreased circulating antibody level, Lymphopenia, Pulmonary lymphangiectasia, Ascites, Splenomeg... ORPHA:2136
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Chronic hepatitis, C... ORPHA:3260
D-Bifunctional Protein Deficiency
Hepatic steatosis, Primary adrenal insufficiency, Fetal ascites, Cholestasis, Hepatomegaly, Splen... OMIM:261515
Joubert Syndrome With Hepatic Defect
Cirrhosis, Neoplasm of the liver, Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly, Intrah... ORPHA:1454
Dyskeratosis Congenita
Cirrhosis, Abnormal eyebrow morphology, Sparse hair, Premature graying of hair, Abnormal testis m... ORPHA:1775
Mucopolysaccharidosis Type 1
Abnormality of the tonsils, Splenomegaly ORPHA:579
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly OMIM:608594
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly OMIM:617088
Hurler Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93473
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly OMIM:269700
Desmosterolosis
Splenomegaly ORPHA:35107
Zimmermann-Laband Syndrome 1
Hepatomegaly, Splenomegaly OMIM:135500
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Cardiofaciocutaneous Syndrome 1
Hyperhidrosis, Splenomegaly OMIM:115150
Behçet Disease
Acne, Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Or... ORPHA:117
Cranioectodermal Dysplasia 2
Polysplenia, Biliary cirrhosis, Cholestasis, Hepatomegaly, Cholangitis, Left ventricular hypertro... OMIM:613610
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Anemia, Splenomegaly, Abnormali... ORPHA:2072
Blau Syndrome
Skin rash, Iridocyclitis, Pericarditis, Retrobulbar optic neuritis, Posterior uveitis, Abnormal s... ORPHA:90340
Gaucher Disease
Cirrhosis, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Hepatomegaly, He... ORPHA:355
Cockayne Syndrome A
Hepatomegaly, Splenomegaly, Anhidrosis, Thymic hormone decreased OMIM:216400
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Ascites, Splenomegaly OMIM:269860
Mucolipidosis Type Ii
Hepatosplenomegaly, Left ventricular hypertrophy, Splenomegaly ORPHA:576
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Thick hair, Chronic otitis media, Hirsutism, Coarse hair, Synophrys, Hepat... ORPHA:581
Hepatoerythropoietic Porphyria
Splenomegaly, Erythroid hyperplasia, Hemolytic anemia ORPHA:95159
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polysplenia, Hepatoblastoma, Hepatomegaly, Splenomegaly, Pancrea... ORPHA:373
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope... ORPHA:79277
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Exocrine pancreatic insufficiency, Enlarged kidney, Congenital megaureter, ... ORPHA:116
African Trypanosomiasis
Infertility, Abnormality of the menstrual cycle, Myelitis, Pericarditis, Iritis, Impotence, Optic... ORPHA:3385
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Malformation of the hepatic ductal plate, Patent duc... OMIM:249000
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Niemann-Pick Disease Type C
Bone-marrow foam cells, Fetal ascites, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Hepatosplen... ORPHA:646
Cockayne Syndrome B
Hepatomegaly, Anhidrosis, Splenomegaly OMIM:133540
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Unilateral renal agenesis, Hepatomegaly, Urina... ORPHA:90324
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Nodular regenerative hyperplasia of liv... ORPHA:404454
22Q11.2 Deletion Syndrome
Autoimmunity, Hypothyroidism, Cholelithiasis, Thrombocytopenia, Hypoplasia of the thymus, Impaire... ORPHA:567
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
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Lymphadenitis, Acute i... ORPHA:707
Tropical Endomyocardial Fibrosis
Hepatomegaly, Autoimmune antibody positivity, Cardiomegaly, Ascites, Splenomegaly, Eosinophilia ORPHA:75565
Mucopolysaccharidosis Type 2
Hepatomegaly, Enlarged tonsils, Splenomegaly ORPHA:580
Camurati-Engelmann Disease
Hepatomegaly, Anemia, Leukopenia, Splenomegaly ORPHA:1328
Hajdu-Cheney Syndrome
Hepatomegaly, Splenomegaly ORPHA:955
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Hepat... ORPHA:191
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly ORPHA:93
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Polysplenia, Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia OMIM:312870
Okamoto Syndrome
Splenomegaly ORPHA:2729
Proteus Syndrome
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged polycystic ovaries ORPHA:744
Choreoacanthocytosis
Hepatomegaly, Splenomegaly, Abnormal erythrocyte enzyme level, Acanthocytosis ORPHA:2388
Alström Syndrome
Recurrent urinary tract infections, Abnormal liver physiology, Chronic kidney disease, Micropenis... 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 Mfge8

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 Mfge8.

No publications found that use IMPC mice or data for Mfge8.

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MGI Allele Allele Type Produced
Mfge8tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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