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Gene: Slc51b MGI:3582052

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Gene Summary

Name:
solute carrier family 51, beta subunit
Synonyms:
Ostb

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Slc51bem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Slc51bem1(IMPC)Mbp HOM Early adult 0.00
decreased total body fat amount Slc51bem1(IMPC)Mbp HOM Early adult 1.18×10-09
increased lean body mass Slc51bem1(IMPC)Mbp HOM Early adult 7.76×10-10
abnormal bone structure Slc51bem1(IMPC)Mbp HOM   Early adult 3.11×10-05
increased circulating alkaline phosphatase level Slc51bem1(IMPC)Mbp HOM Early adult 6.96×10-05
hydrometra Slc51bem1(IMPC)Mbp HOM Early adult 0.00
increased red blood cell distribution width Slc51bem1(IMPC)Mbp HOM Early adult 4.27×10-12

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Slc51b 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.

The table below shows human diseases associated to Slc51b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bile Acid Malabsorption, Primary, 2
Prolonged neonatal jaundice, Copper accumulation in liver, Decreased circulating chenodeoxycholic... OMIM:619481

The table below shows human diseases predicted to be associated to Slc51b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... ORPHA:71275
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me... ORPHA:231226
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Weight loss, Abnormal B cell c... ORPHA:100024
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Increased circulating iron concentration, Splenomegaly, Hypogona... OMIM:613313
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Reduced bone mineral density, Hypocalcemia, Cholestasis, Failure to thriv... ORPHA:172
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Camptodactyly, Failure to thrive, Anisocytosis, Flexion contracture OMIM:604273
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypercholesterolemia, Hypocalcemia... OMIM:612526
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Proteus Syndrome
Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splen... OMIM:176920
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic fibrosis, Hepatic st... OMIM:614480
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Reduced bone mineral densi... ORPHA:848
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, T lymphocytop... OMIM:608971
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome... OMIM:613101
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly OMIM:230350
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Failure to thrive, Biliary tract abnormality, Sp... ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Abnormality of the lymphatic sys... ORPHA:1414
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Congenital Erythropoietic Porphyria
Osteopenia, Scarring, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin lev... ORPHA:79277
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Enlarged me... OMIM:209950
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:615085
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... OMIM:616278
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyperostosis, Fail... OMIM:612714
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Beta-Thalassemia Intermedia
Reduced bone mineral density, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decrea... ORPHA:231222
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increas... OMIM:618398
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Increased circulating iron concentration, Splenomegaly, Inc... OMIM:602390
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin... OMIM:618892
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Wolman Disease
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:620151
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome... OMIM:612840
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... OMIM:611490
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Leukocytosis, Splenomegaly ORPHA:37748
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Immunodeficiency 32B
Hepatomegaly, Anemia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomega... OMIM:226990
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated... OMIM:615559
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega... OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple... OMIM:269840
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen... OMIM:613490
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Splenomegaly, Weigh... ORPHA:545
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos... ORPHA:98848
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Failure to thrive, Hyperammonemia, Thrombocytopenia, Splenome... ORPHA:79312
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye... ORPHA:457077
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El... OMIM:308240
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Testicular atrophy, Oste... OMIM:235200
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocytosis, Port... ORPHA:824
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, H... OMIM:278000
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Osteolysis, Pancytope... ORPHA:77259
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Failure to thrive, Bone marrow hypocellularity, Leukopenia, Throm... OMIM:619151
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Giant cell hepatitis, Failu... OMIM:607765
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Weight loss, Osteolysis ORPHA:391
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia ORPHA:75234
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Generalized lipodystrophy, Lymphadenopathy, Panniculit... OMIM:619183
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Decr... OMIM:618495
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Hype... OMIM:615387
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158061
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:611762
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Failure to thrive, Thr... OMIM:617591
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:2348
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... OMIM:257200
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Glycogen Storage Disease Ixb
Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Failure to thr... OMIM:228000
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Hypocalcemia, Increa... OMIM:259700
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, H... ORPHA:264580
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Failure to thrive, Hepatospl... OMIM:606003
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit... ORPHA:231214
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil... OMIM:602347
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Loss of ... ORPHA:79083
Wolman Disease
Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Scarring alopecia of scalp, Abnormal dental enamel morphology, Cholestasi... ORPHA:59303
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Failure to ... OMIM:602450
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Neu... OMIM:612852
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Cachexia, Leukocytos... ORPHA:77297
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancrea... ORPHA:280365
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymph... ORPHA:1655
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Failure to thrive, Splenome... OMIM:235555
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Increased body wei... ORPHA:79240
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Increased body weight, Hepatitis, Fai... ORPHA:905
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He... ORPHA:294
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Hepatomeg... ORPHA:829
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Cystic angiomatosis of bone,... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Cystic angiomatosis of bone,... OMIM:608594
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Sclerosis of hand bone, Polycythemia, Scle... ORPHA:2905
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hepatomegaly, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Leuk... ORPHA:289157
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Cardiomegaly, Hepatocellular carcinoma,... ORPHA:465508
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv... ORPHA:168558
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ... OMIM:613812
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv... ORPHA:289548
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Ascites, Portal hypertension, Fa... OMIM:251880
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto... OMIM:259720
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration ORPHA:85414
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis OMIM:618042
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Leukocytosis, Lymphadenitis,... OMIM:615895
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Gray Platelet Syndrome
Myelofibrosis, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Porphyria, Congenital Erythropoietic
Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Corneal scarring, Elevated circulating uropor... OMIM:263700
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancre... OMIM:610199
Proteus-Like Syndrome
Hyperostosis, Shagreen patch, Splenomegaly, Thymus hyperplasia, Subcutaneous lipoma, Polycystic o... ORPHA:2969
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Splenomegaly, Weight loss ORPHA:33577
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Weight loss, Perit... ORPHA:131
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hypocalci... ORPHA:169090
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Intraalveolar phospholipid accumulation, Os... OMIM:222700
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Multiple Myeloma
Osteopenia, Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Weight loss, Hyperproteinemia, ... ORPHA:29073
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Anemia, Erythroid hypoplasia, Inguinal hernia, Panniculitis, Hypoplasia of the thym... OMIM:612541
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Decreased circulating copper co... OMIM:300972
Polycythemia Vera
Acute leukemia, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hypertension, Portal vein throm... ORPHA:729
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Anemia, Failure to thrive, Hypercalcemia, Hypophosphatemia, Splenomegaly OMIM:239200
Isolated Biliary Atresia
Cirrhosis, Severe failure to thrive, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bi... ORPHA:30391
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Hypocalcemic seizures, Hepatomegaly, Anemia, Abnormal trabecular bone morphology, ... OMIM:612301
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia... ORPHA:186
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Anemia, Hypophosphatemic rickets, Enlarged kidney, Hypertyrosinemia, Hep... OMIM:276700
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Primary Sclerosing Cholangitis
Osteopenia, Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis,... ORPHA:171
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipide... OMIM:232220
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Cellulitis, Impaired o... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Cellulitis, Impaired o... OMIM:233710
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Cranial hyperostosis, Splenomegaly, Lipoma OMIM:612918
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital... OMIM:620376
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Cellulitis, Impaired o... OMIM:233690
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Hypokalemia, Long penis, Decreased circulating... OMIM:202010
Hepatoerythropoietic Porphyria
Osteopenia, Scarring, Scarring alopecia of scalp, Osteoporosis, Abnormal circulating porphyrin co... ORPHA:95159
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease... ORPHA:77293
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anoperineal fistu... OMIM:619381
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Meckel Syndrome 14
Decreased calvarial ossification, Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus OMIM:619879
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis... ORPHA:90794
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Apla... OMIM:618280
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia, Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Se... ORPHA:2237
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Micropenis OMIM:614083
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Omphalocele ORPHA:2736
Thrombocytopenia-Absent Radius Syndrome
Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, ... OMIM:274000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Inguinal hernia, Aplasia of the vagina OMIM:271520
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Osteolytic defects of the phalanges of the hand, Inguinal hernia, Cervical insufficiency,... OMIM:130050
Wolf-Hirschhorn Syndrome
Hypospadias, Abnormal sternal ossification, Accessory spleen, Aplasia of the uterus, Precocious p... OMIM:194190
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Accessory spleen, Omphalocele, Bifid uterus OMIM:236680
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Inguinal hernia, Aplasia of the vagina ORPHA:457284
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Inguinal hernia, Bifid scrotum, Omphalocele, ... ORPHA:322
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Okamoto Syndrome
Bifid uterus, Splenomegaly, Omphalocele ORPHA:2729
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Loeys-Dietz Syndrome
Atypical scarring of skin, Camptodactyly of finger, Uterine rupture, Craniosynostosis ORPHA:60030
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypospadias, Inguinal hernia, Aplasia of t... OMIM:135900
Neu-Laxova Syndrome 1
Camptodactyly, Yellow subcutaneous tissue covered by thin, scaly skin, Bifid uterus, Cryptorchidi... OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Elbow flexion contracture, Aplasia of the uterus, De... OMIM:276820
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Umbilical ... OMIM:107480
Vascular Ehlers-Danlos Syndrome
Hypospadias, Inguinal hernia, Hypokalemia, Uterine rupture, Cigarette-paper scars, Uterine prolap... ORPHA:286
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Aplasia of the upper vagina, Hypospadias, Inguinal hernia, Campt... OMIM:601803
Norrie Disease
Cachexia, Failure to thrive, Uterine rupture, Cryptorchidism ORPHA:649
Bile Acid Malabsorption, Primary, 2
Prolonged neonatal jaundice, Copper accumulation in liver, Decreased circulating chenodeoxycholic... OMIM:619481

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.

Phenotype Allele Zygosity Sex Life Stage
Small intestine - MPATH pathological process term hyperplasia Slc51bem1(IMPC)Mbp HOM Early adult
Small intestine - MPATH pathological entity term epithelial hyperplasia Slc51bem1(IMPC)Mbp HOM Early adult

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 Slc51b.

No publications found that use IMPC mice or data for Slc51b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc51bem1(IMPC)Mbp Exon Deletion Mice, Tissue
Slc51btm251897(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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