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Gene: Abcb4 MGI:97569

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Gene Summary

Name:
ATP-binding cassette, sub-family B (MDR/TAP), member 4
Synonyms:
Pgy2,  mdr-2,  Pgy-2,  Mdr2

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
decreased mean corpuscular hemoglobin Abcb4em1(IMPC)H HOM Early adult 7.27×10-14
increased monocyte cell number Abcb4em1(IMPC)H HOM Early adult 4.88×10-07
decreased mean corpuscular hemoglobin concentration Abcb4em1(IMPC)H HOM Early adult 9.25×10-07
thrombocytosis Abcb4em1(IMPC)H HOM Early adult 2.32×10-09
increased circulating aspartate transaminase level Abcb4em1(IMPC)H HOM Early adult 0.00
increased circulating bilirubin level Abcb4em1(IMPC)H HOM Early adult 6.78×10-06
increased spleen weight Abcb4em1(IMPC)H HOM Early adult 4.59×10-13
decreased hemoglobin content Abcb4em1(IMPC)H HOM Early adult 2.11×10-05
increased circulating alanine transaminase level Abcb4em1(IMPC)H HOM Early adult 0.00
increased circulating creatinine level Abcb4em1(IMPC)H HOM Early adult 1.33×10-05
increased leukocyte cell number Abcb4em1(IMPC)H HOM Early adult 2.17×10-08
increased basophil cell number Abcb4em1(IMPC)H HOM   Early adult 4.04×10-05
increased neutrophil cell number Abcb4em1(IMPC)H HOM   Early adult 6.97×10-12
increased red blood cell distribution width Abcb4em1(IMPC)H HOM Early adult 1.89×10-05
increased circulating alkaline phosphatase level Abcb4em1(IMPC)H HOM Early adult 0.00
increased lymphocyte cell number Abcb4em1(IMPC)H HOM Early adult 4.51×10-06
decreased locomotor activity Abcb4tm1Bor HOM Early adult 9.74×10-06
decreased circulating HDL cholesterol level Abcb4em1(IMPC)H HOM Early adult 6.24×10-06
increased circulating potassium level Abcb4em1(IMPC)H HOM Early adult 1.06×10-05
increased startle reflex Abcb4tm1Bor HOM Early adult 7.15×10-15
decreased circulating glucose level Abcb4em1(IMPC)H HOM Early adult 2.04×10-05

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.

Phenotype associated images not available

Human diseases caused by Abcb4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Abcb4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated... OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... OMIM:619662
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Conjugated... OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, D... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Diarrhea, Malformation of the hepat... OMIM:619849
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, Intrahepatic chol... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Hepati... OMIM:235555
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Splenomegal... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Diarrhea, Conjugated hyperbilir... OMIM:211600
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymph... ORPHA:1414
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia, Eleva... OMIM:300752
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Elevated gamma-glut... OMIM:619484
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... OMIM:214950
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir... ORPHA:79302
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Cholestasis, Intrahepatic, Of Pregnancy, 1
Increased serum bile acid concentration during pregnancy, Elevated hepatic transaminase, Intrahep... OMIM:147480
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Cholestasis, Intrahepatic, Of Pregnancy 3
Increased serum bile acid concentration during pregnancy, Intrahepatic cholestasis, Abnormal live... OMIM:614972
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619658
Cholestasis, Benign Recurrent Intrahepatic, 1
Pancreatitis, Hepatomegaly, Intermittent jaundice, Conjugated hyperbilirubinemia, Increased serum... OMIM:243300
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Eczema, Abnormal circulating porphyrin conce... ORPHA:79278
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... ORPHA:567983
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Abnormal ... OMIM:231100
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Elevated circulating aspartate aminotransfe... OMIM:278000
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase... ORPHA:480520
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... OMIM:235700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Hepatic failur... OMIM:251880
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia,... OMIM:232800
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Pulmonary arterial hypertension, Increase... OMIM:215600
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:616860
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... OMIM:613490
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ... ORPHA:446
Mpi-Cdg
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Diarrhea, Vomiting, He... ORPHA:79319
Rotor Syndrome
Abnormal enzyme/coenzyme activity, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Jaundice, I... ORPHA:3111
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen... ORPHA:210136
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Diarrhea, Hypertriglyceridemia, Hyperchol... ORPHA:75234
Fibrosclerosis, Multifocal
Thyroiditis, Retroperitoneal fibrosis, Sclerosing cholangitis, Abnormality of the liver OMIM:228800
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... OMIM:182900
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated hepatic transa... OMIM:619902
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cholestasis, Jaundice ORPHA:172
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... OMIM:619256
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... ORPHA:30391
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... ORPHA:846
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, ... OMIM:602390
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia OMIM:619073
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Abn... ORPHA:848
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Eczema, Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Primary Biliary Cholangitis
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Abnormal circulating li... ORPHA:186
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Increased total biliru... OMIM:618528
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis ORPHA:586
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi... ORPHA:562639
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... OMIM:611881
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit... OMIM:615207
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Neoplasm of the pancreas ORPHA:438274
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Ascites, Jaundice ORPHA:890
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure OMIM:143500
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Arrhythmia... OMIM:606069
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma, Budd-Chiari syndrome OMIM:600880
Caroli Disease, Isolated
Hepatomegaly, Vomiting, Cholangitis, Portal hypertension, Liver abscess OMIM:600643
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm... OMIM:604416
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Cholelithiasis, Anemia of inadequate production, In... ORPHA:3202
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Hyperbilirubinemia, Pulmonic stenosis, Cholestasis, Hypermethioninemia,... OMIM:614300
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Inc... ORPHA:2924
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:232400
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hypergalactosemia, Cho... ORPHA:570422
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Intesti... ORPHA:131
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Dubin-Johnson Syndrome
Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice, Abnormality of ... ORPHA:234
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p... ORPHA:158057
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... OMIM:613470
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... ORPHA:79095
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Immune Deficiency Disease
Fulminant hepatitis, Cholangitis OMIM:242850
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Elevated circulating aspartate aminotransferase concentration, Elevated circu... OMIM:619685
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Jaundice, Elevated circulating alkaline phospha... ORPHA:521219
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Reynolds Syndrome
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... OMIM:613471
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... OMIM:603471
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619232
Cholangiocarcinoma
Acholic stools, Biliary tract neoplasm, Jaundice ORPHA:70567
Enteric Anendocrinosis
Cholestatic liver disease, Diarrhea, Vomiting, Portal hypertension ORPHA:83620
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated alpha-fetoprotein, Vomiting, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Meckel Syndrome, Type 7
Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, Cholestasis, Patent duc... OMIM:267010
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Psoriasis 14, Pustular
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... OMIM:614204
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Osteomyelitis, Pustule, Recurrent tonsillitis, Hypovolemic shock, Atopic dermatit... ORPHA:171876
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... OMIM:614921
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Vomiting, Hemolytic ane... OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic... OMIM:604250
Hereditary Elliptocytosis
Cholelithiasis, Hyperbilirubinemia, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosi... ORPHA:288
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem... ORPHA:822
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase... ORPHA:79303
Coach Syndrome 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... OMIM:619111
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Hy... OMIM:609734
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated ... ORPHA:367
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Ppoma
Cholelithiasis, Constipation, Hepatomegaly, Adrenocortical adenoma, Intestinal carcinoid, Diarrhe... ORPHA:97278
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic... OMIM:208540
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Hepatomegaly, Cirrhos... OMIM:230400
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin, Ascites, Elevated circulating alkaline phosp... OMIM:174050
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Osteo... ORPHA:79230
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation OMIM:618955
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Neuroendocrine neoplasm, Diarrhea, Hepatic cysts, Heart murmur, Facial telangiectas... ORPHA:100085
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Immunodeficiency 92
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen... OMIM:619652
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Transaldolase Deficiency
Telangiectasia, Cirrhosis, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anem... ORPHA:101028
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Splenomegaly, ... OMIM:300635
Grfoma
Cholelithiasis, Constipation, Hepatomegaly, Adrenocortical adenoma, Intestinal carcinoid, Diarrhe... ORPHA:97261
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis ORPHA:209919
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Senior-Boichis Syndrome
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... ORPHA:84081
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Infectiou... OMIM:209920
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Elevated circulating alkaline phosphatase concentration OMIM:615198
Nodular Regenerative Hyperplasia Of The Liver
Abnormality of the hepatic vasculature, Portal hypertension ORPHA:48372
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Macrovesicular hepatic steatosis, Elevated gamma-glutamyltransferase le... OMIM:618329
Somatostatinoma
Medullary thyroid carcinoma, Constipation, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Dia... ORPHA:97283
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... OMIM:224120
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Diarrhea, Hepatomegaly OMIM:261750
Porphyria Cutanea Tarda, Type I
Eczema, Hepatic fibrosis OMIM:176090
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:572
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Ja... ORPHA:731
Disorder Of Bile Acid Synthesis
Abnormal bleeding, Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Abnorma... ORPHA:79168
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Elevated alpha-fetoprotein, Cirrhosis, Hyperammonemia, Elevated circulating aspa... OMIM:617049
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Cir... OMIM:235200
Paget Disease Of Bone 4
Osteolysis, Elevated circulating alkaline phosphatase concentration OMIM:606263
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Carcinoid Syndrome
Atypical pulmonary carcinoid tumor, Tricuspid regurgitation, Carcinoid tumor, Intestinal carcinoi... ORPHA:100093
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Galactosemia Iii
Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Vomiting, Hypergalactosemia, J... OMIM:230350
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Diarrhea, Vomiting, Hepatic fibrosis, Hypo... OMIM:602579
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia OMIM:616871
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Diarrhea, Elevated circ... ORPHA:370
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma OMIM:176100
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure ORPHA:60
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ... OMIM:619481
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Portal hypertension, Ascites, Cardiomyopathy OMIM:232500
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... OMIM:613280
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... OMIM:232700
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Thrombocythemia 3
Thrombocytosis OMIM:614521
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... OMIM:616649
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613489
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries, Hypertension, Hepatic steatosis ORPHA:280356
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Jaundice, Cholangitis OMIM:607626
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Chronic dia... ORPHA:309108
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... OMIM:185000
Adams-Oliver Syndrome 6
Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly OMIM:616589
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Thrombocythemia 2
Thrombocytosis OMIM:601977
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ... OMIM:618641
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Vomiting, Cholestasis, Prolonged neonatal jaundice, Bile duct prol... OMIM:301068
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating alkaline phosphatase concentrati... OMIM:193100
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Osteomal... ORPHA:89937
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci... OMIM:239100
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... ORPHA:57777
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Telangiectasia, Spontaneous, recurrent epistaxis, Portal hypertension OMIM:615506
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ... OMIM:618775
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... OMIM:216360
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia, Microvesicular hepatic steatosis, Acute hepatic failure, Vomiti... OMIM:613070
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatomega... OMIM:619644
Alveolar Echinococcosis
Decreased liver function, Budd-Chiari syndrome, Abnormal spleen morphology, Hepatic cysts, Liver ... ORPHA:284
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... OMIM:617994
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol... OMIM:201475
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Chronic oral candidiasis, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepati... OMIM:308230
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hy... OMIM:246700
Galactosemia
Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Cirrhosis, Increased level of g... ORPHA:352
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhos... ORPHA:228426
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Diarrhea, Elevated circ... ORPHA:264580
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Decreased serum i... OMIM:614602
Vipoma
Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating... ORPHA:97282
Aggressive Systemic Mastocytosis
Elevated circulating alkaline phosphatase concentration, Maculopapular exanthema, Diarrhea, Incre... ORPHA:98850
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Diarrhea, Cholestasis, Hyp... ORPHA:247598
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Elevated circulating alkaline phosphatase concentration, Pathologic... OMIM:174810
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Microvesicular hepatic steatosis, Cholestasis, Elevated hepatic transam... OMIM:124000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Jaundice, Spl... ORPHA:309854
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension OMIM:105200
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Hepatomegaly, Microvesicular h... OMIM:256810
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Meckel Syndrome, Type 6
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly ORPHA:2204
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Atrial flutter, Dysphagia, Atrial fibrillation, First degree ... OMIM:160900
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... ORPHA:824
Dysplasia Of Head Of Femur, Meyer Type
Enlarged tonsils, Leukocytosis ORPHA:168621
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure ORPHA:466794
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Mitchell-Riley Syndrome
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Diarrhea, Cholestasis, Pancreatic hypoplas... OMIM:615710
Rft1-Cdg
Abnormal bleeding, Hepatomegaly ORPHA:244310
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating cr... OMIM:615895
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Hep... OMIM:614886
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Constipation, Abnormal circulating thyroglobulin lev... ORPHA:95715
Glucagonoma
Constipation, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating ... ORPHA:97280
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Increased red cell sickling tendency, H... OMIM:603903
Hepatocellular Carcinoma
Hepatomegaly, Diarrhea, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyponatremia... ORPHA:88673
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Galactosemia Iv
Hypergalactosemia, Prolonged neonatal jaundice OMIM:618881
Lambert Syndrome
Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... ORPHA:94089
Cog4-Cdg
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Intermitt... ORPHA:263501
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Elevated circulating creatine kinase concentration OMIM:268040
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis OMIM:609060
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Polycystic liver disease, Pancreatic fibrosis, Pulmonary insufficiency, Conjugated hyp... OMIM:208500
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Elev... ORPHA:400
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Elevated alkaline ... ORPHA:398063
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Otitis media, Eczema, Diarrhea, T lymphocyto... OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia, Elevated circulating creatine kinase concentration, Myositis ORPHA:565899
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transaminase, Hypoalbuminem... OMIM:242150
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Telangiectasia of the skin, Hepatic failure, Subarachnoid hemorrhage, Abnormal ca... ORPHA:774
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... OMIM:614576
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Hypocalcemia, Increased bone mineral density, Hepatomegaly, Craniosynostosis, Oste... OMIM:259700
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Atrophic gastritis,... ORPHA:227990
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Chilblains, Pericarditis, Acute p... OMIM:619487
Portal Vein, Cavernous Transformation Of
Extrahepatic portal hypertension OMIM:601004
Sialuria
Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:3166
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased bone mine... OMIM:239000
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Fulminant hepatic failure, Dilated cardiomyopath... OMIM:231530
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Intraalveolar phospholipid accumulation... OMIM:615486
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice OMIM:614876
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... OMIM:263200
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Hepatomegaly, Vomiting OMIM:605911
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-CoA dehydrogenase lev... ORPHA:71212
Complement Component 4B Deficiency
Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia, Recurrent otitis media OMIM:614379
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atop... ORPHA:183675
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Wilson Disease
Hepatomegaly, Bruising susceptibility, Splenomegaly, Acute hepatic failure, Cirrhosis, Abnormalit... ORPHA:905
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct proliferation, ... OMIM:261515
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... OMIM:267700
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin, Pulmonary art... OMIM:616299
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Atrophic gastritis,... ORPHA:227982
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Portal hypertension, Pancytopenia OMIM:617341
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Ascites, Cardi... OMIM:269920
Galactosemia Ii
Hypergalactosemia, Prolonged neonatal jaundice OMIM:230200
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating alkaline phosphatase concentration... OMIM:122860
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Abnormality of the p... ORPHA:69665
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia OMIM:614743
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Diarrhea, Elevated circ... ORPHA:79240
Insulin-Resistance Syndrome Type B
Hodgkin lymphoma, Multiple myeloma, Abnormal circulating fatty-acid concentration, Nephritis, Abn... ORPHA:2298
Idiopathic Congenital Hypothyroidism
Constipation, Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal ... ORPHA:95717
Interstitial Lung Disease 2
Cirrhosis, Pulmonary arterial hypertension, Alveolar cell carcinoma OMIM:178500
Cranioectodermal Dysplasia 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertrophy, Cholestasis, Elevat... OMIM:613610
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Osteomal... ORPHA:289157
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Cryptorchidism, Hepatomegaly OMIM:613861
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Hypertension, Hepatic steatosis ORPHA:363400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Diarrhea, Pulmonary hemorrhage, Absence of lymph node germinal ... ORPHA:79124
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Hypophosphatemia, E... OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Osteomalacia, Abnormal bone struc... ORPHA:93160
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Right ventricular hypertrophy, Ele... OMIM:613404
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Tricuspid regurgita... OMIM:300972
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Elevated cir... OMIM:600785
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Calvarial osteoscl... ORPHA:93324
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Splenomegaly, Epi... ORPHA:729
Fanconi Renotubular Syndrome 2
Osteopenia, Hypophosphatemia, Rickets, Elevated alkaline phosphatase of bone origin OMIM:613388
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... ORPHA:247585
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Hepatomegaly, Lymphoproliferative disorder... OMIM:615688
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Hepatic fib... OMIM:615415
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:615234
Lathosterolosis
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatosplenomegaly, ... OMIM:607330
Argininemia
Hepatomegaly, Micronodular cirrhosis, Hyperammonemia, Hyperargininemia, Episodic vomiting, Vomiti... OMIM:207800
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Subcutaneous hemorrhage, Abnormality of the liver ORPHA:1980
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Gingival bleed... OMIM:618549
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia ORPHA:713
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Nephronophthisis 18
Portal fibrosis, Tubulointerstitial nephritis, Cholestasis OMIM:615862
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Cholestasis, Hypochromic microcytic anemia, Hepatitis, Po... ORPHA:440713
Duodenal Neuroendocrine Tumor
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Righ... ORPHA:100076
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification OMIM:103580
Primary Lipodystrophy
Angina pectoris, Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hyper... ORPHA:90970
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis OMIM:612462
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Hypocalcemia, Sialadenitis, Euthyroid goiter, Nodular goiter,... ORPHA:64744
Elliptocytosis 2
Neonatal hyperbilirubinemia, Reticulocytosis, Elliptocytosis, Hemolytic anemia OMIM:130600
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Ascites OMIM:226300
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Mal... OMIM:219700
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbilirubinemia, Hyperammonemi... ORPHA:1667
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop... ORPHA:86893
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Cardiomyopathy OMIM:609016
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycyst... OMIM:604367
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice, Hyperkalemia OMIM:608885
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Joubert Syndrome With Hepatic Defect
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Conge... ORPHA:1454
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density ORPHA:970
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... ORPHA:66661
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... OMIM:179800
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Diarrhea, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty a... OMIM:609313
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Pathologi... ORPHA:157215
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Gastroesophageal reflux, Cirrhosis, Aplastic anemia, Mediastinal lymphadenopathy, Myeloid leukemi... OMIM:614742
Preeclampsia
Abnormality of the hepatic vasculature, Elevated circulating creatinine concentration, Type I dia... ORPHA:275555
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Elevated circulating alkaline phosphatase... ORPHA:210110
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Th... OMIM:619795
Senior-Loken Syndrome
Abnormality of bone mineral density, Congenital hepatic fibrosis ORPHA:3156
Citrullinemia, Classic
Hepatomegaly, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Hypoargininemia, Hyperglu... OMIM:215700
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Pate... OMIM:615382
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Elevated circulating creatine kinase concentration, Hepatomegaly, Inc... OMIM:500009
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis OMIM:616629
Cerebrotendinous Xanthomatosis
Cholelithiasis, Angina pectoris, Pseudobulbar paralysis, Diarrhea, Myocardial infarction, Abnorma... OMIM:213700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, Macrocytic anemia, Hemolytic anem... OMIM:615512
Osteootohepatoenteric Syndrome
Hypokalemia, Microvesicular hepatic steatosis, Episodic vomiting, Cholestasis, Hepatic fibrosis, ... OMIM:619377
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Cirrhosis, Diarrhea, Vomiting, Macrovesicular hepatic steatosis, Elevate... ORPHA:298
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphad... ORPHA:3260
Graft Versus Host Disease
Elevated circulating alkaline phosphatase concentration, Hemophagocytosis, Maculopapular exanthem... ORPHA:39812
Hyperostosis Frontalis Interna
Elevated circulating alkaline phosphatase concentration, Hyperostosis frontalis interna OMIM:144800
Pparg-Related Familial Partial Lipodystrophy