Gene: Abcb4 MGI:97569

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Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Abcb4em1(IMPC)H HOM   Early adult 4.26×10-05
increased leukocyte cell number Abcb4em1(IMPC)H HOM Early adult 2.49×10-08
thrombocytosis Abcb4em1(IMPC)H HOM Early adult 3.12×10-09
increased red blood cell distribution width Abcb4em1(IMPC)H HOM Early adult 2.08×10-05
increased circulating alkaline phosphatase level Abcb4em1(IMPC)H HOM Early adult 0.00
increased neutrophil cell number Abcb4em1(IMPC)H HOM   Early adult 1.44×10-11
increased startle reflex Abcb4tm1Bor HOM Early adult 2.57×10-09
decreased circulating HDL cholesterol level Abcb4em1(IMPC)H HOM Early adult 6.23×10-06
decreased circulating glucose level Abcb4em1(IMPC)H HOM Early adult 2.18×10-05
increased circulating potassium level Abcb4em1(IMPC)H HOM Early adult 1.06×10-05
increased circulating alanine transaminase level Abcb4em1(IMPC)H HOM Early adult 0.00
increased monocyte cell number Abcb4em1(IMPC)H HOM Early adult 5.67×10-07
increased lymphocyte cell number Abcb4em1(IMPC)H HOM Early adult 4.94×10-06
decreased mean corpuscular hemoglobin concentration Abcb4em1(IMPC)H HOM Early adult 1.13×10-06
increased circulating aspartate transaminase level Abcb4em1(IMPC)H HOM Early adult 0.00
increased circulating bilirubin level Abcb4em1(IMPC)H HOM Early adult 7.02×10-06
hypoactivity Abcb4tm1Bor HOM Early adult 9.74×10-06
decreased hemoglobin content Abcb4em1(IMPC)H HOM Early adult 2.16×10-05
decreased mean corpuscular hemoglobin Abcb4em1(IMPC)H HOM Early adult 8.24×10-14
increased spleen weight Abcb4em1(IMPC)H HOM Early adult 5.75×10-13
increased circulating creatinine level Abcb4em1(IMPC)H HOM Early adult 1.33×10-05

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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 associated to Abcb4 by orthology or direct annotation.

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
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice, ... OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Diarr... OMIM:602347
Cholestasis-Lymphedema Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnorma... ORPHA:1414
Caroli Disease
Conjugated hyperbilirubinemia, Jaundice, Vomiting, Cirrhosis, Intrahepatic cholestasis, Nausea, C... ORPHA:53035
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte prot... OMIM:300752
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal liver function tests during pre... OMIM:147480
Cholestasis, Intrahepatic, Of Pregnancy 3
Jaundice, Intrahepatic cholestasis, Abnormal liver function tests during pregnancy, Increased ser... OMIM:614972
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Decreased liver function, Abnormal circulating porp... ORPHA:79278
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormal bleeding, Cirrhosis, Hepatocellular necros... OMIM:231100
Caroli Syndrome
Conjugated hyperbilirubinemia, Melena, Jaundice, Hypersplenism, Leukopenia, Cirrhosis, Intrahepat... ORPHA:480520
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Diarrhea, Hypersplenism, Leukopenia, Pulmonary arte... OMIM:278000
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver... ORPHA:79301
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Chronic diarrhea, Cholelithia... ORPHA:65682
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Normocytic ... OMIM:235700
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Jaundice, S... OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatic failure, Portal hypertension OMIM:615878
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased serum iron, Congenital hepatic fibrosis, Increased circula... ORPHA:446
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Cholecystitis,... OMIM:266200
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Elevated he... ORPHA:210136
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Jaundice, Intermittent jaundice, Abnormal enzy... ORPHA:3111
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Intrahepatic cholestasis, Decreased circulatin... ORPHA:171851
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Diarrhea, Hepatic ... ORPHA:75234
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Prolonged prothrombin time, Elevat... ORPHA:30391
Fibrosclerosis, Multifocal
Thyroiditis, Retroperitoneal fibrosis, Sclerosing cholangitis, Abnormality of the liver OMIM:228800
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:614582
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Reduced bone mineral density, Splenomegaly ORPHA:172
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Osteopenia, Hypocalcemia OMIM:619073
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasi... OMIM:614921
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Alpha-Thalassemia
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Spl... ORPHA:846
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Hepatomegaly, Congestive hea... OMIM:602390
Malaria
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated hepatic transaminase OMIM:602114
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Spider hemangioma, Inflammation of the lar... ORPHA:2137
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopeni... ORPHA:848
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Hypertriglyceridemia, Hepatic failure, Eczema OMIM:177000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, He... OMIM:618528
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Chronic diarrhea, ... OMIM:615207
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Orthostatic hypotension, Hepatocellular carcinoma, Bili... ORPHA:186
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperlipidemia, Hepatomegaly,... ORPHA:369
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Interface hep... ORPHA:562639
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Diarrhea, Cholestasis OMIM:609313
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Vomiting, Portal hypertension, Liver abscess OMIM:600643
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kina... OMIM:232400
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Budd-Chiari Syndrome
Cirrhosis, Budd-Chiari syndrome, Hepatocellular carcinoma OMIM:600880
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Diarrhea, Hypoalbuminemia, Hepatic f... OMIM:602579
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Cholecystitis... ORPHA:131
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Portal hypertension, Biliary cirrhosis OMIM:604901
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, Jaundice, Abnormality of ... ORPHA:234
Reynolds Syndrome
Elevated hepatic transaminase, Lip telangiectasia, Gastrointestinal hemorrhage, Biliary cirrhosis... OMIM:613471
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Hepatomegaly, Decreased liver function, Abnormal enzyme/coenzyme ... ORPHA:570422
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Hyperbiliverdinemia
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis OMIM:242850
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Hyperbilirubinemi... ORPHA:521219
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Enteric Anendocrinosis
Vomiting, Portal hypertension, Cholestatic liver disease, Diarrhea ORPHA:83620
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Cholelithiasis, Jaund... OMIM:613470
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Vomiting, Hepatic necrosis ORPHA:33402
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Polysplenia, Pate... OMIM:208540
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Cirrhosis, Familial
Micronodular cirrhosis, Hypertension, Jaundice, Increased level of propylene glycol in blood, Pul... OMIM:215600
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Patent ductus arteriosus, Cholestasis, Aortic valve stenosis... OMIM:267010
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Lymphopen... OMIM:604250
Generalized Pseudohypoaldosteronism Type 1
Pustule, Recurrent tonsillitis, Arrhythmia, Atopic dermatitis, Hyponatremia, Cholelithiasis, Incr... ORPHA:171876
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Psoriasis 14, Pustular
Pustule, Leukocytosis, Cholangitis, Elevated circulating C-reactive protein concentration, Oligoa... OMIM:614204
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased response to growth hormone stimuation test, Cholestasis, Adrenocort... OMIM:609734
Ppoma
Elevated circulating growth hormone concentration, Adrenocortical adenoma, Hypercalcemia, Primary... ORPHA:97278
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Cirrhosis, Hepatic failure OMIM:210050
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hypertension, Hepat... OMIM:619111
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Hardikar Syndrome
Elevated hepatic transaminase, Hyperbilirubinemia, Hepatomegaly, Jaundice, Cholangitis, Splenomeg... OMIM:612726
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hemolytic anemia, Increased level of... OMIM:230400
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Primary Hepatic Neuroendocrine Carcinoma
Carcinoid tumor, Diarrhea, Hepatic cysts, Intrahepatic cholestasis with episodic jaundice, Neuroe... ORPHA:100085
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Abnormality of iron homeosta... ORPHA:465508
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hemochromatosis Type 2
Osteoporosis, Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnorm... ORPHA:79230
Grfoma
Elevated circulating growth hormone concentration, Adrenocortical adenoma, Hypercalcemia, Primary... ORPHA:97261
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Congestive hear... ORPHA:367
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Cholelithiasis, Normocytic anemia, Jaundice, Normo... OMIM:222800
Primary Sclerosing Cholangitis
Thyroiditis, Jaundice, Palmar telangiectasia, Hypoalbuminemia, Cirrhosis, Acute hepatic failure, ... ORPHA:171
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage, Polycystic liver disease, Gastroesophagea... ORPHA:2924
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Viral hepatiti... ORPHA:139507
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Transaldolase Deficiency
Increased serum bile acid concentration, Cirrhosis, Thrombocytopenia, Abnormal circulating glutam... ORPHA:101028
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Increased circulating ferritin concentration, Folliculitis, ... OMIM:300635
Somatostatinoma
Elevated circulating growth hormone concentration, Adrenocortical adenoma, Gallbladder dysfunctio... ORPHA:97283
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Keratoconjunctivitis sicca, Pa... OMIM:260480
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration, Clavicular sclerosis OMIM:615198
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Biliary tract abnormality, Colitis, Cholangitis, Encephalitis, Chronic mucocutan... OMIM:209920
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cirrhosis, Elevated hepatic transaminase OMIM:613490
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Hypersplenism, Enlarged kidney, Periportal fibrosis, Thrombocytopenia, Cholangitis, Asc... ORPHA:731
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Nodular Regenerative Hyperplasia Of The Liver
Portal hypertension, Abnormality of the hepatic vasculature ORPHA:48372
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Polycystic li... OMIM:174050
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatin... OMIM:615895
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jaundice, Norm... OMIM:611881
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Disorder Of Bile Acid Synthesis
Abnormal bleeding, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnorma... ORPHA:79168
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Elevated hepatic transaminas... OMIM:235200
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma OMIM:176100
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Jaundice, Hepatic failure, Hyperammonemia OMIM:617049
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema OMIM:176090
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Stomatitis, H... OMIM:308230
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, T lymphocytopenia, Abnormal CD4:CD8 ratio, Sk... ORPHA:572
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Failure to thrive, Splenomegaly OMIM:615947
Galactosemia Iii
Hypergalactosemia, Hepatomegaly, Jaundice, Splenomegaly, Vomiting OMIM:230350
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertension, Polycystic ovaries, Hepatic fibrosis, Hypertriglyceridemia ORPHA:280356
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Polycythemia, He... OMIM:613280
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinemia, Recurrent fractures, Hyperuricemia, Increased bone mi... OMIM:239000
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis OMIM:234350
Glycogen Storage Disease Iv
Cirrhosis, Ascites, Hepatic failure, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy OMIM:232500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Glycogen Storage Disease Ixb
Hepatomegaly, Diarrhea, Increased hepatic glycogen content OMIM:261750
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase co... OMIM:193100
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Rickets, Elevated circulating alkaline phosphatase concentration,... ORPHA:89937
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hypercalcemia, Osteopenia, Calvarial osteosclerosis, Hyperphosp... OMIM:617994
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Cranial hyperostosis, Thickened cortex o... OMIM:239100
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Jaundice, Cholangitis OMIM:607626
Thrombocythemia 2
Thrombocytosis OMIM:601977
Trichohepatoenteric Syndrome 2
Cirrhosis, Colitis, Hepatomegaly, Decreased serum iron, Hepatitis, Diarrhea OMIM:614602
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Chronic diarrhea, Hepatomegaly, Elevated circulating al... OMIM:613489
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia, Elevated hepatic transaminase OMIM:615506
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Chronic diarrhea, Cholelithiasis, Steato... ORPHA:309108
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Hyperbilirubinemia, Elevated circulating long chain fatty acid con... OMIM:614886
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Hypertension, Hepatic fibr... OMIM:216360
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Carcinoid Syndrome
Palpitations, Intestinal carcinoid, Right ventricular failure, Elevated hepatic transaminase, Aty... ORPHA:100093
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... ORPHA:309854
Vipoma
Elevated circulating growth hormone concentration, Adrenocortical adenoma, Hypercalcemia, Primary... ORPHA:97282
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Hepatic cysts, Pancreatic cysts, Biliary ... ORPHA:284
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration, Osteolysis, Pathologic fracture, Thin bo... OMIM:174810
Cryptosporidiosis
Dysphagia, Decreased proportion of CD4-positive helper T cells, Nausea, Chronic diarrhea, Biliary... ORPHA:1549
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatome... OMIM:203700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Amyloidosis, Familial Visceral
Skin rash, Hypertension, Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly OMIM:269840
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis... OMIM:201475
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Galactosemia
Cryptorchidism, Cirrhosis, Elevated hepatic transaminase, Increased level of galactitol in plasma... ORPHA:352
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Acute hepatic failure, Neutropenia in presence of anti-neutropil antibodi... ORPHA:228426
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Cholestasis, Pancreatic hypoplasia, Diarrh... OMIM:615710
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase conce... OMIM:618775
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Hepatomeg... OMIM:603552
Aggressive Systemic Mastocytosis
Neutropenia, Maculopapular exanthema, Pancytopenia, Decreased liver function, Diarrhea, Hypersple... ORPHA:98850
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Elevated hepatic tr... OMIM:256810
Primary Myelofibrosis
Poikilocytosis, Hemangioma, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Increased... ORPHA:824
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, D... OMIM:246700
Glucagonoma
Skin rash, Elevated circulating growth hormone concentration, Adrenocortical adenoma, Hypercalcem... ORPHA:97280
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Pancreatic cysts, Polycystic liver disease, Conjugated hyperbilirubinemi... OMIM:208500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Cholangitis, Decrea... OMIM:124000
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hypertension, Hepatomegaly, Jaundice, Increased r... OMIM:603903
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Elevated gamma-glutamyltransfera... ORPHA:400
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Cholestasis ORPHA:1296
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly, Eczema, Otitis media, Lymphad... OMIM:608971
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Constipation, Conjugated hyperbilirubinemia, Prolonged neonatal jaundice, Abnormal circulating th... ORPHA:95715
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Tricuspid regurgitation OMIM:616589
Rft1-Cdg
Hepatomegaly, Abnormal bleeding ORPHA:244310
Myotonic Dystrophy 1
Dysphagia, Atrial flutter, Atrial fibrillation, Cholelithiasis, Testicular atrophy, First degree ... OMIM:160900
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Cholestasis OMIM:609060
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Degenerative liver disease OMIM:268040
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Jaundice, Cho... OMIM:613404
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased... OMIM:613658
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Rheumatoid arthriti... ORPHA:227990
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hypertension, Hepatomegaly... OMIM:263200
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Galactosemia Iv
Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Budd-Chiari syndrome, Neoplasm, Jaundice, Hype... ORPHA:88673
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Nephronophthisis 16
Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmonic stenosis, Aortic valve stenosis, Hypertr... OMIM:615382
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Increased bone density with cystic changes, Hypocalcemic tetany, Increased bone min... ORPHA:94089
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Elevated circulating creatine kinase concentration, Myositis, Biliary atresia ORPHA:565899
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cerebral hemorrhage, Pul... ORPHA:774
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Rheumatoid arthriti... ORPHA:227982
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, T... ORPHA:263501
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Increased spinal bo... ORPHA:329475
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Retinitis Pigmentosa 59
Hepatomegaly, Cryptorchidism, Elevated hepatic transaminase OMIM:613861
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Increased circulating lactate dehydrogenase concentration, Osteop... OMIM:259700
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Vomiting, Diarrhea OMIM:605911
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Portal Vein, Cavernous Transformation Of
Extrahepatic portal hypertension OMIM:601004
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Polysplenia, Biliary cirrhosis, Patent ductus arteriosus, Hyperbil... OMIM:613610
Idiopathic Congenital Hypothyroidism
Constipation, Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal ... ORPHA:95717
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Elevated hepatic transaminase, Chronic diarrhea, ... OMIM:614576
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Elevated hepatic transaminase, He... ORPHA:905
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure, Decreased... OMIM:231530
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Pulmonary hemorrhage, Elevated hepatic transaminase, Decreased proportion of m... ORPHA:79124
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, He... OMIM:261515
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Congestive heart failure, As... OMIM:269920
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Elevated hepatic transaminase, Decreased liver function, Pulmonary art... OMIM:616299
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Cirrhosis, Pancytopenia, Aplastic anemia, Leukemia, Bone marrow hypocellularity OMIM:614743
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Portal hypertension, Retinal telangiectasia, Gastrointestinal hemorrhage OMIM:617341
Galactosemia Ii
Prolonged neonatal jaundice, Hypergalactosemia OMIM:230200
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Elevated hepatic transaminase, Abnormal circu... ORPHA:71212
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jau... OMIM:615512
Refractory Celiac Disease
Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Elevated hepatic transaminase, Ele... ORPHA:398063
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Subcutaneous hemorrhage, Abnormality of the liver ORPHA:1980
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Polycythemia Vera
Myelodysplasia, Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chi... ORPHA:729
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating ... OMIM:122860
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Cholelithiasis ORPHA:3166
Insulin-Resistance Syndrome Type B
Skin rash, Multiple myeloma, Hypotriglyceridemia, Enlarged ovaries, Biliary cirrhosis, Abnormal s... ORPHA:2298
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Anemi... OMIM:615688
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia, Elevated alkaline phosphatase of bone origin, Hypophosphatemia OMIM:613388
Pulmonary Fibrosis, Idiopathic
Alveolar cell carcinoma, Cirrhosis, Pulmonary arterial hypertension OMIM:178500
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Hyperuricemia, Hypertension, Polycystic ovaries, Hypertriglyceridem... OMIM:604367
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Hypophosphatemia, Rickets, Elevated alkaline phosphatase of ... ORPHA:289157
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubin... OMIM:208085
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Pulmonic stenosis, Asplenia, Aortic... OMIM:615415
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hypertension, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal tr... ORPHA:93160
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Abnormal pineal melatonin secretion, Hyperbilirubinemia, Jaundice,... ORPHA:69665
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Diarrhea, Splenomegaly, Lympha... OMIM:618495
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy OMIM:609016
Mpi-Cdg
Congenital hepatic fibrosis, Hepatic failure ORPHA:79319
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Rickets, Recurrent fractures, Elevated circulating alkaline phosphatase concent... OMIM:600081
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Steatorrhea, Cholestasis, Hepatitis, Cholestatic liver disease, An... ORPHA:440713
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Hepatomegaly, Sea-blue histiocytosis, Hypertriglyceridemia, Splenomegaly,... OMIM:607616
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymp... ORPHA:66661
Argininemia
Micronodular cirrhosis, Cholestasis, Hepatomegaly, Hyperargininemia, Episodic vomiting, Vomiting,... OMIM:207800
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Lathosterolosis
Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal circulating cholesterol concent... OMIM:607330
Nephronophthisis 18
Portal fibrosis, Tubulointerstitial nephritis, Cholestasis OMIM:615862
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cystic Fibrosis
Recurrent pneumonia, Cirrhosis, Exocrine pancreatic insufficiency, Bronchiectasis, Biliary cirrho... OMIM:219700
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Insulinoma, Melena, Episodic vomiting, Lymphad... ORPHA:100076
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Elevated circulating alkaline phosphatase concentrati... OMIM:600785
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Thrombocythemia 3
Thrombocytosis OMIM:614521
Cerebrotendinous Xanthomatosis
Pseudobulbar paralysis, Angina pectoris, Cholelithiasis, Myocardial infarction, Diarrhea, Abnorma... OMIM:213700
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Tyrosinemia, Type I
Paralytic ileus, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Enlarged ... OMIM:276700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Macrove... OMIM:600649
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Type I diabetes mellitus, Abnorm... ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Hyperbilirubinemia, Hyp... ORPHA:1667
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Interface hepatitis, Elevated serum transamin... OMIM:611182
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphoma, Hepatomegaly, B-cell lymphoma, Breast carcinoma, Splenomegaly, Lymphadenop... ORPHA:86893
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Myelodysplasia, Gastroesophageal reflux, Pancytopenia, Aplastic anem... OMIM:614742
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Patent ductus arteriosus, Cholestasis, Hepatomegaly, Decreased liver function, Hy... OMIM:608104
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Elevated hepatic transaminase, Hepatic steato... OMIM:615486
Senior-Loken Syndrome 9
Hepatic fibrosis, Tubulointerstitial nephritis, Cholestasis OMIM:616629
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly, Hyperkalemia OMIM:608885
Primary Lipodystrophy
Cirrhosis, Angina pectoris, Hepatic steatosis, Hypertension, Polycystic ovaries, Congestive heart... ORPHA:90970
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology ORPHA:970
Graft Versus Host Disease
Pneumonia, Maculopapular exanthema, Jaundice, Chronic hepatitis, Diarrhea, Vomiting, Myositis, Ly... ORPHA:39812
Combined Oxidative Phosphorylation Deficiency 26
Cirrhosis OMIM:616539
Hyperostosis Frontalis Interna
Elevated circulating alkaline phosphatase concentration, Hyperostosis frontalis interna OMIM:144800
Reynolds Syndrome
Skin rash, Cirrhosis, Dysphagia, Gastroesophageal reflux, Telangiectasia of the skin, Hepatomegal... ORPHA:779
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Ascites, Hypoalbuminemia OMIM:226300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Dec... ORPHA:541423
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertrigly... ORPHA:528
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Hepatic fibrosis, Hepatomegaly, Pancytopenia, Decreased liver ... OMIM:606003
Senior-Loken Syndrome
Congenital hepatic fibrosis, Premature ovarian insufficiency, Hypertension ORPHA:3156
Microsporidiosis
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Biliary... ORPHA:2552
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Citrullinemia, Classic
Hypoargininemia, Cirrhosis, Hyperglutaminemia, Hepatomegaly, Vomiting, Hyperammonemia, Episodic a... OMIM:215700
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas ORPHA:2398
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Tricuspid regurgitation, Jaundice, Heart murmur, Congestive heart fa... ORPHA:615
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Generalized lymphadenopathy, Chronic hepatitis, ... ORPHA:3260
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Dysphagia, Macrovesicular hepatic steatosis, Nausea, Ga... ORPHA:298
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Decreased response to growth hormone stimuation test, Pituitary hypothyr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Decreased response to growth hormone stimuation test, Pituitary hypothyr... ORPHA:71526
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration OMIM:619256
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Infertility, Exocrine pancreatic insufficiency, Biliary cirrhosis, Biliary tract obstruction, Gas... OMIM:219721
Cerebral Cavernous Malformations
Hepatic vascular malformations, Intracranial hemorrhage OMIM:116860
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Elevated circu... OMIM:615934
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Arrhythmia, Constipation, Hepatomegaly, Hyperammonemia, Car... ORPHA:35
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Coproporphyria, Hereditary
Constipation, Hypertension, Hepatomegaly, Jaundice, Tachycardia, Diarrhea, Splenomegaly, Vomiting OMIM:121300
Biliary Malformation With Renal Tubular Insufficiency
Jaundice, Conjugated hyperbilirubinemia, Biliary hyperplasia OMIM:210550
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Subperiosteal bone formation, Hyperostosis, Hyperphosphatemia, Calcinosis OMIM:211900
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hyperuricemia, Hypertension, Polycystic ovaries, Hepatomegaly, Hype... ORPHA:79083
Hypophosphatasia, Childhood
Craniosynostosis, Low alkaline phosphatase, Elevated plasma pyrophosphate OMIM:241510
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Adult-Onset Still Disease
Skin rash, Elevated hepatic transaminase, Pericarditis, Abnormal circulating lipid concentration,... ORPHA:829
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Chronic atrophic gastritis, Ch... OMIM:240300
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Beta-Ketothiolase Deficiency
Thrombocytosis, Hyperglycemia, Leukocytosis, Hyperuricemia, Hypoglycemia, Hepatomegaly, Hyperammo... ORPHA:134
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Fibrous dysplasia of the bones, Elevated circulating alkaline pho... ORPHA:352540
Osteosarcoma
Osteolysis, Increased circulating lactate dehydrogenase concentration, Elevated circulating alkal... ORPHA:668
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Osteomalacia, Pathologic fracture OMIM:179800
Cystinosis