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Gene: Rbbp4 MGI:1194912

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Gene Summary

Name:
retinoblastoma binding protein 4, chromatin remodeling factor
Synonyms:
CAF-1 p48 subunit,  RBAP48

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
enlarged kidney Rbbp4em1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Rbbp4em1(IMPC)Mbp HET Early adult 0.00
abnormal gallbladder morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Rbbp4em1(IMPC)Mbp HET Early adult 0.00
abnormal bone structure Rbbp4em1(IMPC)Mbp HET Early adult 2.60×10-08
embryonic lethality prior to organogenesis Rbbp4em1(IMPC)Mbp HOM   E9.5 0.00
increased body length Rbbp4em1(IMPC)Mbp HET Early adult 9.83×10-05
increased bone mineral content Rbbp4em1(IMPC)Mbp HET   Early adult 2.39×10-06
preweaning lethality, complete penetrance Rbbp4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal liver morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
prenatal lethality prior to heart atrial septation Rbbp4em1(IMPC)Mbp HOM   E15.5 0.00
small liver Rbbp4em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Rbbp4em1(IMPC)Mbp HET Late adult 0.00
abnormal eye morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00

Download data as:  TSV  XLS

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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

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XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Rbbp4 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 Rbbp4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia OMIM:300752
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... OMIM:615382
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Microcytic anemia, Decreased liver function ORPHA:79278
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency ORPHA:309108
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Retic... OMIM:232800
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... OMIM:603903
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia OMIM:615415
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... ORPHA:30391
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia OMIM:613313
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice ORPHA:79234
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality ORPHA:79168
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Normocytic anemia, C... OMIM:611881
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol gallstones, Ga... ORPHA:521219
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly OMIM:613490
Sialuria
Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:3166
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Diaphanospondylodysostosis
Nephrogenic rest, Abnormal liver lobulation, Absent in utero rib ossification, Cystic renal dyspl... OMIM:608022
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Elevated hepatic transaminase ORPHA:79095
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation OMIM:618955
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:171
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... OMIM:615512
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Sclerosing cholangitis, Elevated circulating aspartate aminotransferase ... OMIM:619662
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... OMIM:608836
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidne... ORPHA:251004
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Craniosynostosis, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hep... OMIM:200995
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Tyrosinemia, Type I
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic f... OMIM:276700
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:614377
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Meckel Syndrome, Type 6
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Ppoma
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Pituitary adenoma, Hepatom... ORPHA:97278
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... OMIM:278000
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis ORPHA:171876
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Harderoporphyria
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Grfoma
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Pituitary adenoma, Hepatom... ORPHA:97261
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Macrovesicular ... OMIM:617303
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Immunodeficiency 32B
Splenomegaly OMIM:226990
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated hepatic transaminase, Hepatic failure OMIM:614886
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cysts, Enlarged kidn... ORPHA:464329
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Asplenia OMIM:240300
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613489
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Depletion of ... OMIM:251880
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Hepatomegaly, Pancreatitis, Increased hepatic glycogen content, Osteopenia, Hepa... ORPHA:79259
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun... ORPHA:108
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Normochromic anemia OMIM:618775
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Hypoplastic nipples OMIM:618268
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph... OMIM:130650
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... ORPHA:449395
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Elevate... ORPHA:507
Microgastria-Limb Reduction Defects Association
Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Cryptorchidism, Asplenia OMIM:156810
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Leukocytosis, Hepatic failure, Cirrhosis, Leukope... ORPHA:480520
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ... ORPHA:905
H Syndrome
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Osteolysis ORPHA:168569
Porphyria, Congenital Erythropoietic
Cholelithiasis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Cryptorchidism, Decreased testicular size OMIM:300534
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... OMIM:308240
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder ORPHA:512
Distal Trisomy 5Q
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Microcytic anemia, Portal hypertension ORPHA:774
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Splenomegaly, Hepa... ORPHA:77293
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis ORPHA:586
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct pr... OMIM:267010
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... OMIM:224120
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... OMIM:257200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Lathosterolosis
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increased mean platelet ... OMIM:607330
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hep... OMIM:235200
Alg9-Cdg
Ureteral hypoplasia, Abnormal bone ossification, Hepatomegaly, Periportal fibrosis, Hypoplasia of... ORPHA:79328
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
Gallbladder Neuroendocrine Tumor
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... ORPHA:100086
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus OMIM:612651
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Hepatomegaly, Cholecystitis OMIM:301066
Macrophage Activation Syndrome
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated cir... ORPHA:158061
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Overgrowth, Enlarged kidney ORPHA:276280
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... ORPHA:398124
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, E... ORPHA:79303
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, H... ORPHA:116
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Craniosynostosis, Splenomegaly, Osteopenia, Enlarged kidney, Mucopolysacchariduria,... OMIM:252500
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Hepatic fibrosis OMIM:615630
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... ORPHA:400
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96092
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Jaundice ORPHA:290
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Hepatitis, E... ORPHA:829
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... ORPHA:505248
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Ascites, Cardiomegaly OMIM:256550
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Hepatic fibrosis, Pa... ORPHA:2072
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Interlobular bile duct... ORPHA:562639
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Proportionate tall stature, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Large for... ORPHA:500095
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme leve... ORPHA:370
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly OMIM:205400
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Thrombocytopenia, Biliary tract obstruction, P... ORPHA:77259
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis ORPHA:464738
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... OMIM:216360
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly ORPHA:90033
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangiti... OMIM:308230
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... ORPHA:39041
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... OMIM:618935
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
Gaucher Disease, Type I
Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... ORPHA:231226
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Fatal liver failure in infancy, Prolonged neo... OMIM:257220
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly... ORPHA:540
Beta-Thalassemia Major
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... ORPHA:231214
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:612387
Primary Lipodystrophy
Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis ORPHA:90970
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Enlarged kidney OMIM:608978
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormal erythrocyte enzyme level, Cholestasis, Hepatocell... ORPHA:264580
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cardiomegaly ORPHA:97297
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Biliary atresia, Enlarged kidney, Abdominal situs inversus, Horsesh... OMIM:306955
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:169090
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Cryptorchidism, Severe B lymphocytopenia, B lymphocytopenia, Pancre... ORPHA:83617
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Absent gallbladder ORPHA:556955
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly OMIM:238600
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Prolon... OMIM:170100
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular car... ORPHA:465508
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity OMIM:615272
Chronic Granulomatous Disease
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of neutrophils, Liver abscess ORPHA:379
Immunodeficiency 36
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... OMIM:616005
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Hepatomegaly, Chronic noninfectious lymphadenopathy, Intermittent jaundice... ORPHA:100085
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Micronodular cirrhosis, Hepatic failure, Elevated... OMIM:203700
Felty Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Neutropenia, Bone m... ORPHA:47612
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Ogden Syndrome
Global glomerulosclerosis, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis, En... OMIM:300855
Hardikar Syndrome
Decreased liver function, Hepatomegaly, Intrahepatic bile duct cysts, Intrahepatic bile duct dila... OMIM:301068
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hepatoblastoma, Tall stature, Right ventricular hypertrophy, Splenomegaly, Hypospad... OMIM:312870
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism ORPHA:264450
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypoparathyroidism, Splenomegaly, Hypoplasia of the thymus, Abnormality of the to... ORPHA:567
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Elevated hepatic transamina... OMIM:615895
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Elevated hepatic transaminase, Anemia,... OMIM:617591
Leprechaunism
Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Nephrocalcinosis ORPHA:508
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Jaundice, Biliary cirrhosis OMIM:613471
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233710
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Acanth... OMIM:300842
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Primary Biliary Cholangitis
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic fibrosis, Portal hyperte... ORPHA:186
Digeorge Syndrome
Cholelithiasis, Hydrocele testis, Splenomegaly, Ovarian cyst, Hypoplasia of the thymus, Parathyro... OMIM:188400
Hyperlipoproteinemia, Type Id
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly OMIM:615947
Essential Thrombocythemia
Acute leukemia, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:92
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, E... OMIM:603553
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Cryptorchidism, Absent gallbladder ORPHA:163979
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233690
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Hypereosinophilia, Splenomegaly OMIM:617388
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Ap... ORPHA:2255
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hepatocellular adenoma, Elevated... ORPHA:79240
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Cardiomegaly ORPHA:349
Triploidy
Abnormality of the gallbladder, Cryptorchidism, Hepatomegaly, Abnormality of the pancreas ORPHA:3376
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Joubert Syndrome With Hepatic Defect
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Conge... ORPHA:1454
Cerebrotendinous Xanthomatosis
Cholelithiasis, Prolonged neonatal jaundice ORPHA:909
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the gallbladder, Biliary tract neoplasm, Anemia, Panc... ORPHA:2869
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Fetal ascites, B... OMIM:607625
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Elevated hepatic transa... ORPHA:1572
Gaucher Disease, Type Iiic
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Thrombocytopenia, Anemia, Lymphadenopat... OMIM:267700
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Cryptorchidism, Abnormality of mesentery morphology ORPHA:2075
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... ORPHA:273
Q Fever
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cholecystitis, Thrombocytopenia, Elevated hepatic... ORPHA:781
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct proliferation, ... OMIM:261515
Trisomy 10P
Absent gallbladder ORPHA:171929
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, P... ORPHA:158048
Cardiac-Urogenital Syndrome
Micropenis, Accessory spleen, Hepatopulmonary fusion, Enlarged kidney, Penoscrotal hypospadias, P... OMIM:618280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Adams-Oliver Syndrome 5
Hypersplenism, Right ventricular hypertrophy, Splenomegaly OMIM:616028
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Splenomegaly OMIM:612852
Mastocytosis
Hepatomegaly, Splenomegaly, Mastocytosis, Chronic leukemia, Acute leukemia ORPHA:98292
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Elevated hepatic transaminase, Decreased liver function, Macrovesicular ... OMIM:618329
Polycythemia Vera
Acute leukemia, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:729
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Polycythemia, Elevated hepatic transaminase, ... ORPHA:309854
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Hyperparathyroidism, Neonatal Severe
Primary hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:239200
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure... OMIM:277900
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Absent gallbladder, Pancreatic hypoplasia OMIM:600001
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Ascites, Liv... OMIM:306400
Zttk Syndrome
Absent gallbladder OMIM:617140
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... OMIM:210250
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferation, Jaundic... OMIM:208500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinop... OMIM:102700
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Cholestasis, Elevated hepatic transamin... OMIM:613610
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619525
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:260920
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pituitary adenoma, Pancreatitis, Hepatoblastoma, Biliary tract obstruction, G... ORPHA:733
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Inc... ORPHA:84064
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Tetrasomy 9P
Biliary atresia, Absent gallbladder, Jaundice, Cryptorchidism ORPHA:3310
Williams Syndrome
Cholelithiasis, Polycystic ovaries, Cryptorchidism, Cardiomegaly ORPHA:904
Peters-Plus Syndrome
Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality OMIM:261540
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orchitis, Peritonitis OMIM:249100
Vacterl/Vater Association
Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas ORPHA:887
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pancreatic hy... OMIM:619991
Osteopetrosis, Autosomal Recessive 7
Anemia, Hepatomegaly, Splenomegaly OMIM:612301
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nod... ORPHA:50918
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevated hepatic transaminase, Polycys... OMIM:608594
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Autoimmune hemolytic anemia, Abnormality... ORPHA:436252
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Elevated hemoglobin A1c, Cirrhosis, Acute pancreatitis, Elevated hepa... OMIM:269700
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Portal hypertens... OMIM:613658
Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Pancreatitis, Hepatomegaly, Splenomegaly ORPHA:565612
Meckel Syndrome, Type 1
Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Bile duct proliferation... OMIM:249000<