Gene Summary

Name:
ATP-binding cassette, sub-family B member 4
Synonyms:
Pgy2,  mdr-2,  Pgy-2,  Mdr2

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
thrombocytosis Abcb4em1(IMPC)H HOM Early adult 2.38×10-09
increased red blood cell distribution width Abcb4em1(IMPC)H HOM Early adult 6.03×10-06
increased spleen weight Abcb4em1(IMPC)H HOM Early adult 2.75×10-13
decreased circulating glucose level Abcb4em1(IMPC)H HOM Early adult 2.37×10-05
increased circulating aspartate transaminase level Abcb4em1(IMPC)H HOM Early adult 0.00
decreased mean corpuscular hemoglobin Abcb4em1(IMPC)H HOM Early adult 6.64×10-14
increased circulating creatinine level Abcb4em1(IMPC)H HOM Early adult 1.15×10-05
increased leukocyte cell number Abcb4em1(IMPC)H HOM Early adult 2.62×10-08
increased monocyte cell number Abcb4em1(IMPC)H HOM Early adult 7.96×10-07
increased circulating alanine transaminase level Abcb4em1(IMPC)H HOM Early adult 0.00
decreased hemoglobin content Abcb4em1(IMPC)H HOM Early adult 1.95×10-05
increased circulating amylase level Abcb4em1(IMPC)H HOM Early adult 6.64×10-05
decreased circulating HDL cholesterol level Abcb4em1(IMPC)H HOM Early adult 2.63×10-05
increased neutrophil cell number Abcb4em1(IMPC)H HOM   Early adult 2.99×10-13
increased circulating alkaline phosphatase level Abcb4em1(IMPC)H HOM Early adult 4.20×10-45
decreased locomotor activity Abcb4tm1Bor HOM Early adult 9.74×10-06
increased startle reflex Abcb4tm1Bor HOM Early adult 7.15×10-15
increased lymphocyte cell number Abcb4em1(IMPC)H HOM Early adult 4.93×10-06
increased circulating bilirubin level Abcb4em1(IMPC)H HOM Early adult 6.86×10-06
increased circulating potassium level Abcb4em1(IMPC)H HOM Early adult 6.14×10-06
decreased mean corpuscular hemoglobin concentration Abcb4em1(IMPC)H HOM Early adult 7.25×10-07
increased basophil cell number Abcb4em1(IMPC)H HOM   Early adult 5.53×10-05

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Viewing: all phenotypes

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
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom... OMIM:616278
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Steatorrhea, Elevated circulating al... OMIM:613812
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, ... OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Fibro-obliterative bile-duct lesion, ... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Hepatocellular carcinoma, Intermitte... OMIM:601847
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, J... OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod... OMIM:211600
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Caroli Disease
Cholestasis, Biliary cirrhosis, Ascites, Splenomegaly, Jaundice, Intrahepatic cholestasis, Cholan... ORPHA:53035
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Protoporphyria, Erythropoietic, X-Linked
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... OMIM:300752
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:619484
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... OMIM:605814
Cholestasis, Intrahepatic, Of Pregnancy 3
Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abn... OMIM:614972
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hyperbiliverdinemia
Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis OMIM:614156
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Chronic hemolytic anemia, Redu... OMIM:266200
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Abnormal circulating ... ORPHA:79278
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased circulating... OMIM:278000
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Gastr... ORPHA:79301
Hemochromatosis, Neonatal
Cirrhosis, Abnormal bleeding, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necros... OMIM:231100
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah... ORPHA:480520
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic ... OMIM:214950
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Elevated circulating... ORPHA:64743
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl... OMIM:613490
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Cirrhosis, Familial
Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Hypertens... OMIM:215600
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating aldolase concentration, Reduced mus... OMIM:232800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemi... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa... OMIM:224100
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... ORPHA:210136
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatomegaly, Hypercholesterolemia, Cholestasis, Biliary cirrho... OMIM:620454
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Diarrhea, Splenomegaly, Hypercholesterol... ORPHA:75234
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Progressive Familial Intrahepatic Cholestasis
Jaundice, Reduced bone mineral density, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Portal hypertension, Hepatic failure OMIM:615878
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme ... ORPHA:79319
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Increased circulating ... ORPHA:446
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Rotor Syndrome
Jaundice, Abnormal circulating enzyme concentration or activity, Hyperbilirubinemia, Intermittent... ORPHA:3111
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Enlarged kidney, He... OMIM:619902
Isolated Biliary Atresia
Decreased liver function, Prolonged prothrombin time, Cirrhosis, Jaundice, Elevated circulating h... ORPHA:30391
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he... ORPHA:2137
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia, Hepatic failure OMIM:177000
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin... OMIM:619256
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal fibrosis... ORPHA:369
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Arthritis, Cardiomyopathy, Increased circulati... OMIM:602390
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration OMIM:602114
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopath... ORPHA:848
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia OMIM:619073
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Jaundic... OMIM:614887
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent pneumonia, Recurrent si... OMIM:615207
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Reduced haptoglobin level, Hepatomegaly, Cholelithiasis, Normochromi... OMIM:611881
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Cadds
Cholestasis, Increased circulating very long-chain fatty acid concentration, Elevated circulating... ORPHA:369942
Glycogen Storage Disease Iv
Cirrhosis, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Hepatosplenomegaly, Abnorma... OMIM:232500
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Increas... ORPHA:890
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp... OMIM:617093
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat... ORPHA:3202
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Hepatosplen... OMIM:604416
Budd-Chiari Syndrome
Intestinal obstruction, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentrat... ORPHA:131
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Portal vein thrombosis, Vomiting, Hepatic necrosis, Elevated circulating alpha-feto... ORPHA:33402
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Galactosemia Iv
Prolonged neonatal jaundice, Hypergalactosemia, Hepatomegaly OMIM:618881
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure, Unconjugated ... OMIM:143500
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Osteoarthritis, Arrhythmia, Elevated transferrin... OMIM:606069
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hy... ORPHA:570422
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma, Budd-Chiari syndrome OMIM:600880
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Enteric Anendocrinosis
Cholestatic liver disease, Diarrhea, Vomiting, Portal hypertension ORPHA:83620
Hepatitis Delta
Cirrhosis, Jaundice, Abnormal bleeding, Fulminant hepatitis, Hepatocellular carcinoma, Elevated c... ORPHA:402823
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unco... OMIM:300908
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Inc... ORPHA:2924
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve... OMIM:613470
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Gastrointestinal inflammation, Cirrhosis, Jaundice, Hep... ORPHA:186
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Pancytopenia, Splenic... ORPHA:77259
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Panniculitis, Hepatocellular carcinoma, Cholestasis, Bronchiec... ORPHA:60
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Increased circulat... ORPHA:158057
Hemochromatosis, Type 3
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Arthritis, Cardiomyop... OMIM:604250
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Cholelithiasis, Recurrent tonsillitis, Hypovolemic shock, Atopic dermatitis, Increa... ORPHA:171876
Reynolds Syndrome
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, H... OMIM:613471
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia, Elevated c... OMIM:619685
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Aortic valve stenos... OMIM:267010
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hepatomegaly, Hyperbilirubinemia, Anemia o... OMIM:613673
Psoriasis 14, Pustular
Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Pustule, Neutro... OMIM:614204
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Galactosemia I
Increased level of galactitol in red blood cells, Decreased liver function, Cirrhosis, Hepatomega... OMIM:230400
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Harderoporphyria
Hepatomegaly, Reticulocytosis, Vomiting, Prolonged neonatal jaundice, Splenomegaly, Neonatal hype... OMIM:618892
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Coach Syndrome 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypertension, Hepatic f... OMIM:619111
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating... ORPHA:367
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis OMIM:618955
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
Beta-Thalassemia Intermedia
Decreased liver function, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscul... ORPHA:231222
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Intrahepatic cholestasis, Elevated circulating hepatic transaminase c... OMIM:614921
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Abnorma... ORPHA:79230
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Elevated circulating alkalin... OMIM:607330
Transaldolase Deficiency
Cirrhosis, Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concen... ORPHA:101028
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Neoplasm of the nervous system, Ascites,... ORPHA:100085
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Folliculitis, Inflammation of the large intestine, Splenomega... OMIM:300635
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Ascites, Poly... OMIM:174050
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Hepatic steatosis, Increased circulating copper concentration, Cirr... ORPHA:209919
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine... OMIM:613759
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Ppoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary... ORPHA:97278
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Biliary tract abnormality, Infec... OMIM:209920
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Elevated circulating alkaline phosphatase c... OMIM:615198
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Prolonged prothrombin time, Elevated circulating hepatic transaminase c... OMIM:618329
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Hypertension, Cholest... ORPHA:84081
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification OMIM:618618
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia... OMIM:614300
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Spider hemangioma, Adenocarcinoma of the... ORPHA:171
Nodular Regenerative Hyperplasia Of The Liver
Portal hypertension, Abnormality of the hepatic vasculature ORPHA:48372
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans... ORPHA:100093
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Failur... OMIM:617049
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczematoid dermatitis OMIM:176090
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly,... ORPHA:465508
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Increased circulating lactate dehydrogenase concentration, Elevated circulating hepatic transamin... OMIM:310490
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Sparse bone trabeculae,... OMIM:600081
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ... ORPHA:97261
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl... ORPHA:731
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Diarrhea, ... ORPHA:572
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma, Reduced uroporphyrinogen decarboxylase activity OMIM:176100
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Lymphangiectasis, Diarrhea, Vomiting, Hypoalbuminemia, Hepa... OMIM:602579
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Chro... OMIM:619481
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Pancytopenia, Portal hypertension, Bone marr... OMIM:617341
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Vomiting, Splenomegaly, Decreased beta-galactosidase a... OMIM:230350
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Hemophagocytosis, Pancytopenia, Chronic diarr... OMIM:619858
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Heme Oxygenase 1 Deficiency
Hepatomegaly, Thrombocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopa... OMIM:614034
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Increased total iron binding capacity, Elevated circulating ... OMIM:613280
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Somatostatinoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Ascit... ORPHA:97283
Cirrhotic Cardiomyopathy
Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left ventricular hypertrophy, Card... ORPHA:57777
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Chronic diarrhea, Megaloblastic anemia, Exocrine pancreatic insuffic... ORPHA:309108
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hypertension, Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Elevated circulating alkaline ... OMIM:193100
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic diarrhe... OMIM:613489
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Stomatitis, Diarrhea, ... OMIM:308230
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Combined Oxidative Phosphorylation Deficiency 59
Congestive heart failure, Cholelithiasis, Hyperalaninemia, Hypertrophic cardiomyopathy, Vomiting,... OMIM:620646
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Thyro... ORPHA:228426
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Periportal fibrosis, Decreased circulat... OMIM:201475
Hardikar Syndrome
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I... OMIM:301068
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c... OMIM:239100
Alveolar Echinococcosis
Decreased liver function, Jaundice, Liver abscess, Cholangitis, Abnormal spleen morphology, Bilia... ORPHA:284
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Lymphadeno... OMIM:619644
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypocalcemia, Hypophosphatemia, Osteomalacia, Elevated circulating alkaline phosphatase ... ORPHA:89937
Thrombocythemia 3
Thrombocytosis OMIM:614521
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome... OMIM:216360
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Cog4-Cdg
Intermittent diarrhea, Cirrhosis, Elevated circulating hepatic transaminase concentration, Elevat... ORPHA:263501
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:615506
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Cholelithiasis, Bradycardia, Elevated circulat... OMIM:618775
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hyp... OMIM:618641
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:264580
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, J... ORPHA:309854
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Ele... OMIM:227810
Thrombocythemia 2
Thrombocytosis OMIM:601977
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Decrease... OMIM:614602
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... ORPHA:71275
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Ascites, Abnormal mast cell morphology, Ne... ORPHA:98850
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hypocalcemic tetany, Hyperph... ORPHA:36913
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Familial Expansile Osteolysis
Thin bony cortex, Elevated circulating alkaline phosphatase concentration, Pathologic fracture, O... OMIM:174810
Mantle Cell Lymphoma
B-cell lymphoma, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis... ORPHA:846
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hyperbilirubinemia, Elev... OMIM:614886
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce... OMIM:603903
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:617156
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Petechiae, Retin... ORPHA:294
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome... ORPHA:3318
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly ORPHA:466794
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemia, Hypoca... ORPHA:94089
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis OMIM:609060
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con... OMIM:242150
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Cholestasis ORPHA:1296
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Rft1-Cdg
Abnormal bleeding, Hepatomegaly ORPHA:244310
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Vipoma
Neoplasm of the pancreas, Normochromic anemia, Ascites, Pituitary adenoma, Parathyroid adenoma, G... ORPHA:97282
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Myotonic Dystrophy 1
Atrial flutter, Cholelithiasis, Atrial fibrillation, Dysphagia, First degree atrioventricular blo... OMIM:160900
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis OMIM:612284
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Relapsing Fever
Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased ... ORPHA:91547
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Hypertension, Cholestasis, Splenomegaly OMIM:105200
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:615895
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly ORPHA:444463
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc... OMIM:603552
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Intraalveolar phospholipid accumulation, Cholestasis, Elevated c... OMIM:615486
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Sclerosing cholangitis, Squamous cell carcinoma, Atopic dermatitis, Eczem... OMIM:243700
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Increased blood urea nitrogen, Elevated circulating cre... OMIM:617872
Dysplasia Of Head Of Femur, Meyer Type
Enlarged tonsils, Leukocytosis ORPHA:168621
Cholangiocarcinoma
Acholic stools, Jaundice, Biliary tract neoplasm ORPHA:70567
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Elevated circulating creatine kinase concentration, Biliary atresia ORPHA:565899
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Splenomegaly, Craniofacial hyperostosis ORPHA:1802
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic transaminase concentra... ORPHA:398063
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Tubulointerstitial nephritis, Hypergonadotro... ORPHA:227990
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... OMIM:267700
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circul... OMIM:614576
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Jaundice, Bile duct proliferation, Polycystic liver disease, Nephritis, ... OMIM:208500
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Hyperostosis, Hypercalcemia, Hyperphosphatemia, Elevate... OMIM:211900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, ... OMIM:264700
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Diarrhea, Vomiting, Decreased LDL cholesterol concentration, Hy... OMIM:246700
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Constipation, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conj... ORPHA:95715
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Gastroesophageal reflux, Diarrhea, Chronic... OMIM:608971
Calciphylaxis
Hyperphosphatemia, Ectopic ossification ORPHA:280062
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Osteoporosis, Hyper... OMIM:239000
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Increased bone mineral den... OMIM:259700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Ascit... OMIM:226300
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla... OMIM:610199
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Glucagonoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Normo... ORPHA:97280
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Elevated circulating alanine am... OMIM:613752
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Male infertility, Biliary cirrhosis, Recurrent pneumonia, ... OMIM:219700
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Diarrhea, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestas... OMIM:615710
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Portal Vein, Cavernous Transformation Of
Extrahepatic portal hypertension OMIM:601004
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Tubulointerstitial nephritis, Anterior pitui... ORPHA:227982
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia OMIM:614743
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Recurrent otitis media, Cholangitis, Chronic gastritis, Skin rash, Arthritis, Lymp... ORPHA:183675
Interstitial Lung Disease 2
Cirrhosis, Pulmonary arterial hypertension, Alveolar cell carcinoma OMIM:178500
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal te... OMIM:615923
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Conjugated... OMIM:269920
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Increased blood pr... OMIM:619487
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Galactosemia Ii
Prolonged neonatal jaundice, Hypergalactosemia OMIM:230200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Elevated circulating... ORPHA:71212
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated alkaline phosphatase of bone origin, Hypocalcemic seizures, Hepatomegaly, Delay... ORPHA:289157
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:69665
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypertension, Hepatic steatosis ORPHA:363400
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Osteoporosis OMIM:612462
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypertrophic cardiomyopathy, Hepatic necrosis, F... OMIM:231530
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal salivary gland morphology, Hypotriglyceridemia... ORPHA:2298
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Normocytic anem... OMIM:300972
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated circulating creatine kinase concentration, Elevated serum transamin... OMIM:611182
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormal natural... ORPHA:79124
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Argininemia
Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Episodic vomiting, Cholesta... OMIM:207800
Citrullinemia, Classic
Elevated plasma citrulline, Cirrhosis, Hepatomegaly, Reduced tissue argininosuccinate synthetase ... OMIM:215700
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis,... OMIM:122860
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Mediastinal lymphadenopathy, Anemia, Gastroesophageal reflux, Pancyto... OMIM:614742
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Hypophosp... ORPHA:93160
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat... ORPHA:247585
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort... ORPHA:93324
Idiopathic Congenital Hypothyroidism
Constipation, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Cardiomyopathy OMIM:609016
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Anemia, Hypochromic microcytic anemia, Cholestasis, Porta... ORPHA:440713
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Cirrhosis, Hyperuricemia, Hyperten... OMIM:604367
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Iron deficiency anemia, Neonatal insulin-dependent diabetes mellitus, Lym... ORPHA:1667
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating hepatic transaminase concentration, Skin rash, Hypertension, Bone marrow hyp... OMIM:615688
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,... ORPHA:615
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio... OMIM:263200
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis OMIM:103580
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... ORPHA:1454
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia, Hyperphosp... OMIM:617994
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Hypocalcemia, Sialadenitis, Thyroiditis, Abnormal pitui... ORPHA:64744
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Abnormal bleeding, Jaundice, Elevated circulating hepatic transaminase... OMIM:208085
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Subcutaneous hemorrhage, Hepatomegaly ORPHA:1980
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Bradycardia, P... OMIM:616299
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Nephronophthisis 18
Cholestasis, Hypertension, Portal fibrosis, Tubulointerstitial nephritis OMIM:615862
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Weight loss, Breast carcinoma, B-cell lymp... ORPHA:86893
Mednik Syndrome
Increased circulating very long-chain fatty acid concentration, Cirrhosis, Diarrhea, Cholestasis,... OMIM:609313
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Reduced bone mineral density, Hypophosphatemic rick... ORPHA:157215
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Splen... ORPHA:3260
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ... ORPHA:66661
Nephronophthisis 16
Enlarged kidney, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Pulmonic stenosis... OMIM:615382
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplenomegaly,... ORPHA:210110
Osteogenesis Imperfecta, Type Xxii
Abnormal blood phosphate concentration, Reduced bone mineral density, Multiple prenatal fractures... OMIM:619795
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Diarrhea, Hyperuricemia, Splenomegaly, Reduced ... OMIM:261750
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con... OMIM:179800
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperurice... ORPHA:79083
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Senior-Loken Syndrome
Abnormality of bone mineral density, Congenital hepatic fibrosis ORPHA:3156
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ... OMIM:615558
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Hypoglycemia, Thrombocy... ORPHA:134
Cerebrotendinous Xanthomatosis
Cholelithiasis, Diarrhea, Angina pectoris, Abnormal circulating cholesterol concentration, Myocar... OMIM:213700
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Polycythemia Vera
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H... ORPHA:729
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:613658
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Episodic vomiting, Anemia,... OMIM:619377
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenop... OMIM:603553
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Pathologic fract... OMIM:620366
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Triosephosphate Isomerase Deficiency
Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, ... OMIM:615512
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hyperbilirubinemia, Necrotizing ... OMIM:606812
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Keratoconjunctivitis sicca, Gastroesophageal reflux, Arthritis... ORPHA:779
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the eye, Jau... ORPHA:39812
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk... OMIM:615934
Microsporidiosis
Intermittent diarrhea, Chronic diarrhea, Sinusitis, Biliary tract abnormality, Myocarditis, Chola... ORPHA:2552
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatome