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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
abnormal kidney morphology Rbbp4em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Rbbp4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal bone structure Rbbp4em1(IMPC)Mbp HET Early adult 3.39×10-08
abnormal gallbladder morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
abnormal eye morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
decreased grip strength Rbbp4em1(IMPC)Mbp HET Late adult 2.49×10-05
increased body length Rbbp4em1(IMPC)Mbp HET   Early adult 1.79×10-05
abnormal liver morphology Rbbp4em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Rbbp4em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Rbbp4em1(IMPC)Mbp HET Late adult 0.00
increased bone mineral content Rbbp4em1(IMPC)Mbp HET   Early adult 2.35×10-05
enlarged kidney Rbbp4em1(IMPC)Mbp HET Early adult 0.00
small liver Rbbp4em1(IMPC)Mbp HET Late adult 0.00

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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.

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XRay Images Whole Body Dorso Ventral

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XRay Images Whole Body Dorso Ventral

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XRay Images Whole Body Lateral Orientation

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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
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hyperbiliverdinemia
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho... ORPHA:65682
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis, Microcytic anemia ORPHA:79278
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Cholestasis, Hepatomegaly, ... ORPHA:85445
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanin... ORPHA:53035
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hemolytic anemia, Cholelithiasis OMIM:177000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis,... ORPHA:567983
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Jaundic... OMIM:616278
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Chol... OMIM:232800
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly OMIM:613313
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Pancreatic Colipase Deficiency
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Jaund... OMIM:616860
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polycys... ORPHA:730
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, Hypopituitari... ORPHA:30391
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular... OMIM:276700
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Glycogen Storage Disease Ia
Osteoporosis, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis,... OMIM:232200
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Biliary tract abnormality, Cholestasis ORPHA:79168
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:75234
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Cholelithiasis, J... ORPHA:521219
Glycogen Storage Disease Ib
Osteoporosis, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis,... OMIM:232220
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia, Abnormal liver lo... OMIM:608022
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Cholelithiasis ORPHA:3166
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hepatic failure, Chroni... ORPHA:171
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct... OMIM:601346
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, H... OMIM:608836
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macrosc... ORPHA:251004
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepa... OMIM:200995
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis OMIM:160900
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,... OMIM:235555
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... OMIM:610333
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Ppoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr... ORPHA:97278
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Grfoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr... ORPHA:97261
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic steatosis, Hepatomega... OMIM:617303
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Cholelithiasis ORPHA:171876
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Elevated hepatic transaminase, Cholelithiasis OMIM:614886
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Cholelithiasis, Female hypogonadism, Asplenia, Hypoparathyroidism, Prem... OMIM:240300
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Kaposiform Lymphangiomatosis
Osteolysis, Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Abnormal spleen morphology, ... ORPHA:464329
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Cimdag Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Cholelithiasis OMIM:619273
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Hepatic fai... ORPHA:108
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Immunodeficiency 32B
Splenomegaly OMIM:226990
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:613489
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Urinary bladder inflammation... ORPHA:449395
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteoporosis, Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepatocellula... ORPHA:79259
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Overgrowth, Pancreatic hyperplasia, Vesicour... OMIM:130650
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Splenomegaly... OMIM:609981
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615846
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Splenomegaly, Ascites, Hepatic failure, Anemia ORPHA:75233
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Hepatomegaly, Hypoplastic nipples, Decreased liver function, Splenomegaly OMIM:618268
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Portal hypertension, Biliary cirrhosis OMIM:604901
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Cholelithiasis OMIM:618775
H Syndrome
Osteolysis, Enlarged kidney, Hepatosplenomegaly, Micropenis, Abnormality of the kidney ORPHA:168569
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Biliary tract abnormality, Asplenia, Absent gallbladder, Splenogonadal fusion OMIM:156810
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Leukocytosis, Intrahepatic cholestasis, Thrombocytopeni... ORPHA:480520
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Distal Trisomy 5Q
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly OMIM:263700
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Testicular atro... OMIM:235200
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Cholelithiasis, Neoplasm of... ORPHA:77293
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobilia ORPHA:512
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Microcytic anemia, Cholelithiasis, Hepatic failure, Cholecystitis, Portal hypertension ORPHA:774
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity OMIM:615272
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Cholestasis, Right ventricular hypertrophy, Portal hypertens... OMIM:267010
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Lathosterolosis
Elevated hepatic transaminase, Intrahepatic cholestasis, Increased mean platelet volume, Bilobate... OMIM:607330
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Splenomegaly OMIM:201100
Hemihyperplasia-Multiple Lipomatosis Syndrome
Overgrowth, Nephroblastoma, Enlarged kidney ORPHA:276280
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Mevalonic Aciduria
Splenomegaly ORPHA:29
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Pancytopenia, Thrombocytopenia, Hep... ORPHA:398124
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Biliary ... ORPHA:100086
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcin... ORPHA:2137
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Exocrine pancreatic insufficiency, Enlarged kidney, Congenital megaureter, ... ORPHA:116
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic... OMIM:257200
Adult-Onset Still Disease
Elevated hepatic transaminase, Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis... ORPHA:829
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of th... ORPHA:400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Nephrotic syndrome, Urinary glycosaminoglyca... ORPHA:505248
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96092
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly OMIM:256550
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly ORPHA:2785
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocellular carcinoma, Hepat... ORPHA:370
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Anemia, Splenomegaly, Abnormali... ORPHA:2072
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver function... OMIM:251290
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Multicystic kidney dysplasia, Nephroblastoma, L... ORPHA:500095
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Interlobular bile duct destruction, Interface hepatitis, Elevated hepatic transaminase... ORPHA:562639
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Hepatic fibrosis, Hepatome... OMIM:216360
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly... ORPHA:39041
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis ORPHA:464738
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fatal liver failure in infancy, Fetal ascites, Sea-blue histiocytosis, Pr... OMIM:257220
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Cholestasis,... ORPHA:264580
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Elevated hepatic transaminase, Neutropenia, Thrombocytopenia, Jaundice, Hepatom... ORPHA:540
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly ORPHA:61
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:608799
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Prolonged neonat... OMIM:170100
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Testicular atrophy, C... ORPHA:465508
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Simpson-Golabi-Behmel Syndrome, Type 1
Two carpal ossification centers present at birth, Enlarged kidney, Polysplenia, Tall stature, Bir... OMIM:312870
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Bohring-Opitz Syndrome
Cardiomegaly, Cholelithiasis, Annular pancreas ORPHA:97297
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Hepatosple... OMIM:614866
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Cholelithiasis, Biliary hyperplasia, Hepatomegaly, Panc... ORPHA:83617
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly ORPHA:90970
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:2348
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splen... OMIM:225750
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Elevated hepatic transaminase, Cholestasis, Pancytopenia, Thrombocytopenia, Hepatomega... OMIM:614576
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Chronic noninfectious lymphadenopathy, Intrahepatic... ORPHA:100085
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Annular pancreas ORPHA:264450
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly,... OMIM:617591
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Nephrocalcinosis ORPHA:508
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholangitis, Splenomegaly, Portal hyperten... OMIM:612726
Reynolds Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:613471
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Aredyld Syndrome
Hepatomegaly, Splenomegaly ORPHA:1133
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:607625
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:92
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233710
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Sialuria
Hepatomegaly, Hypoplastic nipples, Splenomegaly OMIM:269921
22Q11.2 Deletion Syndrome
Cryptorchidism, Cholelithiasis, Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Abnorma... ORPHA:567
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Craniofacioskeletal Syndrome
Cryptorchidism, Absent gallbladder OMIM:300712
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hepatome... OMIM:203700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly OMIM:252930
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233690
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:575
Common Variable Immunodeficiency
Hemolytic anemia, Elevated hepatic transaminase, Autoimmune thrombocytopenia, Lymphopenia, Spleno... ORPHA:1572
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Elevated hepatic transaminase, Pancytopenia, Jaundice, Thrombocytopenia, Hepato... OMIM:603553
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Cryptorchidism, Absent gallbladder, Anemia ORPHA:163979
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:231005
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Hepatomegaly, Thyroid lymphangiectasia, Pulmonary ly... OMIM:235255
Primary Biliary Cholangitis
Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Hepatic fibrosis, Jaundice, Hepatitis, As... ORPHA:186
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the gallbladder, Biliary atresia, Pancre... ORPHA:2255
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:259700
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Legionnaires Disease
Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Bone marrow hypocellularity, Lympha... ORPHA:549
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis ORPHA:909
Triploidy
Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder ORPHA:3376
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Lym... ORPHA:2442
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of the gallbladder, Anemia, Panc... ORPHA:2869
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Pediatric-Onset Graves Disease
Goiter, Elevated hepatic transaminase, Neutropenia in presence of anti-neutropil antibodies, Thro... ORPHA:525731
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly OMIM:252940
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Opsismodysplasia
Hepatomegaly, Splenomegaly ORPHA:2746
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Hepatomegaly, Splenom... ORPHA:77297
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly ORPHA:36412
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Pycnodysostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:763
Genitopalatocardiac Syndrome
Abnormality of mesentery morphology, Cryptorchidism, Abnormality of the gallbladder ORPHA:2075
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Digeorge Syndrome
Parathyroid agenesis, Abnormality of the thymus, Cholelithiasis, Parathyroid hypoplasia OMIM:188400
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Hepatomegaly, Pulmonary lymphangiectasia, Hepatic fa... ORPHA:1655
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Hypersplenism, Splenomegaly, Portal hypertension OMIM:613385
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Absent gallbladder OMIM:145410
Q Fever
Elevated hepatic transaminase, Thrombocytopenia, Hepatomegaly, Hepatitis, Splenomegaly, Anemia, C... ORPHA:781
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Elevated hepatic transaminase, Polycythemia, Hepatomegaly, Jaundice, Sple... ORPHA:309854
Trisomy 10P
Absent gallbladder ORPHA:171929
Mastocytosis
Chronic leukemia, Hepatomegaly, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Cholelithiasis, Testicular atrophy, Ovarian carcinoma, Secondary h... ORPHA:273
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:809
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Hepatic failure, Ascites, Hep... OMIM:608013
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Hepatomegaly, Splenomegaly OMIM:612852
Polycythemia Vera
Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly ORPHA:729
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Primary hyperparathyroidism, Anemia, Splenomegaly OMIM:239200
Joubert Syndrome With Hepatic Defect
Cirrhosis, Elevated hepatic transaminase, Chronic hepatic failure, Neoplasm of the liver, Hepatom... ORPHA:1454
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly ORPHA:585
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Hermansky-Pudlak Syndrome 2
Neutropenia, Thrombocytopenia, Hepatomegaly, Reduced natural killer cell count, Absent platelet d... OMIM:608233
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly OMIM:618440
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Fetal ascites, Cholestasis, Hepatomegaly, Splen... OMIM:261515
Zimmermann-Laband Syndrome
Hepatomegaly, Splenomegaly ORPHA:3473
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pancytopenia, Decreased... OMIM:613658
Fucosidosis
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230000
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly OMIM:272200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Splenomegaly OMIM:613327
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Splenomegaly ORPHA:584
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Polysplenia, Biliary cirrhosis, Cholestasis, Hepatomegaly, Cholang... OMIM:613610
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Lymphopenia, Pancytopenia, Hepatomeg... OMIM:615688
Congenital Disorder Of Glycosylation, Type Iie
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Decreased liver function, Splenomegaly OMIM:608779
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Zttk Syndrome
Absent gallbladder OMIM:617140
Kagami-Ogata Syndrome
Hepatomegaly, Splenomegaly OMIM:608149
Sialidosis Type 1