Cholangiocarcinoma, Susceptibility To |
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Cholangiocarcinoma |
OMIM:615619 |
Gallbladder Disease 4 |
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Cholelithiasis |
OMIM:611465 |
Gallbladder Disease 1 |
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Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... |
OMIM:600803 |
Hyperbiliverdinemia |
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Decreased liver function, Cholestasis, Cholelithiasis |
OMIM:614156 |
Biliary Atresia, Extrahepatic |
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Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... |
OMIM:210500 |
Protoporphyria, Erythropoietic, X-Linked |
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Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Jaundice, Cholelithiasis, Hepatomegaly, Intrahepatic cholestasis |
OMIM:605479 |
Benign Recurrent Intrahepatic Cholestasis |
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Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Elevated hepatic transaminase, Ach... |
ORPHA:65682 |
Biliary Cirrhosis, Primary, 1 |
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Biliary cirrhosis |
OMIM:109720 |
Low Phospholipid-Associated Cholelithiasis |
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Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... |
ORPHA:69663 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Splenomegaly, Jaundice, Cholecystitis, Pigment gallstones, Cholelithiasis |
OMIM:613470 |
Alpha-Thalassemia |
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Splenomegaly, Hypersplenism, Jaundice, Cholelithiasis |
ORPHA:846 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Sclerosing Cholangitis, Neonatal |
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Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Spherocytosis, Type 1 |
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Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
North American Indian Childhood Cirrhosis |
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Portal hypertension, Prolonged neonatal jaundice, Biliary cirrhosis |
OMIM:604901 |
Autosomal Erythropoietic Protoporphyria |
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Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Gcgr-Related Hyperglucagonemia |
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Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis |
ORPHA:438274 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Protoporphyria, Erythropoietic, 1 |
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Hepatic failure, Cholelithiasis |
OMIM:177000 |
Pancreatic Colipase Deficiency |
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Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Caroli Disease |
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Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
Pyruvate Kinase Deficiency Of Red Cells |
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Splenomegaly, Jaundice, Cholecystitis, Hepatomegaly, Cholelithiasis |
OMIM:266200 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Splenomegaly, Hepatitis, Jaundice, Hepatomegaly, Cholelithiasis |
OMIM:194380 |
Mirizzi Syndrome |
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Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Cholelithiasis, Abnormality of t... |
ORPHA:521219 |
Glycogen Storage Disease Vii |
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Jaundice, Cholelithiasis |
OMIM:232800 |
Beta-Thalassemia |
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Hepatitis, Splenomegaly, Hepatomegaly, Cholelithiasis |
ORPHA:848 |
Isolated Biliary Atresia |
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Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Hyp... |
ORPHA:30391 |
Martinez-Frias Syndrome |
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Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... |
OMIM:601346 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... |
ORPHA:209902 |
Mitchell-Riley Syndrome |
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Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Cholestasis, Annular ... |
OMIM:615710 |
Beta-Thalassemia Intermedia |
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Cholelithiasis, Cirrhosis, Abnormality of the liver, Jaundice, Hepatocellular carcinoma, Hepatosp... |
ORPHA:231222 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Giant cell hepatitis, Elevated hepatic transaminase, Cholelithiasis, Cholestatic liver disease |
ORPHA:79095 |
Ppoma |
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Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97278 |
Sickle Cell Disease |
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Splenic infarction, Jaundice, Hepatomegaly, Cholelithiasis, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Sialuria |
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Elevated hepatic transaminase, Cholelithiasis, Hepatomegaly, Hepatosplenomegaly |
ORPHA:3166 |
Primary Sclerosing Cholangitis |
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Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Pancreatitis, Cholangiocarcinoma, Elevated hepa... |
ORPHA:171 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cholelithiasis |
OMIM:160900 |
Meckel Syndrome, Type 6 |
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Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Hepatic cysts, Cystic liver disease |
OMIM:612284 |
Grfoma |
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Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97261 |
Glycogen Storage Disease Xii |
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Elevated circulating alanine aminotransferase concentration, Jaundice, Cholecystitis, Hepatomegal... |
OMIM:611881 |
Sickle Cell Anemia |
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Abnormality of the spleen, Cholestasis, Pigment gallstones |
ORPHA:232 |
Hereditary Elliptocytosis |
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Splenomegaly, Jaundice, Prolonged neonatal jaundice, Cholelithiasis |
ORPHA:288 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Hepatic failure, Elevated hepatic transaminase, Cholelithiasis |
OMIM:614886 |
Hereditary Spherocytosis |
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Jaundice, Splenomegaly, Hepatomegaly, Cholelithiasis |
ORPHA:822 |
Triosephosphate Isomerase Deficiency |
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Jaundice, Cholecystitis, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly |
OMIM:615512 |
Cimdag Syndrome |
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Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Generalized Pseudohypoaldosteronism Type 1 |
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Cholelithiasis |
ORPHA:171876 |
Dehydrated Hereditary Stomatocytosis |
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Intermittent jaundice, Splenomegaly, Portal vein thrombosis, Cholelithiasis |
ORPHA:3202 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Cholelithiasis, Asplenia, Hypoparathyroidism, Chronic active hepatitis |
OMIM:240300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Decreased testicular size, Cholelithiasis, Cryptorchidism |
OMIM:300534 |
Distal Trisomy 5Q |
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Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96097 |
Metachromatic Leukodystrophy |
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Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobilia |
ORPHA:512 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Cholelithiasis |
OMIM:618775 |
Hereditary Hemorrhagic Telangiectasia |
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Hepatic failure, Cirrhosis, Cholecystitis, Portal hypertension, Cholelithiasis |
ORPHA:774 |
Trichohepatoneurodevelopmental Syndrome |
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Recurrent pancreatitis, Decreased liver function, Hepatomegaly, Cholelithiasis, Exocrine pancreat... |
OMIM:618268 |
Porphyria, Congenital Erythropoietic |
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Jaundice, Splenomegaly, Hepatomegaly, Cholelithiasis |
OMIM:263700 |
8P Inverted Duplication/Deletion Syndrome |
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Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96092 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Cholecystitis, Cholelithiasis, Hepatomegaly, Hepatosplenomegaly |
OMIM:301066 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Cholelithiasis |
ORPHA:464738 |
Congenital Alveolar Capillary Dysplasia |
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Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis |
OMIM:213700 |
Pentalogy Of Cantrell |
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Absent gallbladder, Polysplenia |
ORPHA:1335 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Lathosterolosis |
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Intrahepatic cholestasis, Elevated hepatic transaminase, Bilobate gallbladder, Hepatosplenomegaly |
OMIM:607330 |
Bohring-Opitz Syndrome |
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Cardiomegaly, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Cirrhosis, Hepatic failure, Hypersplenism, Neoplasm of the liver, Hepatomegaly, Cholelithiasis, D... |
ORPHA:77293 |
Trisomy 8P |
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Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:264450 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Pancreatic hypoplasia, Biliary hyperplasia, Hepatomegaly, Cryptorchidism, Cholelithiasis |
ORPHA:83617 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Pancreatic aplas... |
OMIM:618500 |
Craniofacioskeletal Syndrome |
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Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hepatic fibrosis, Hepatosplenomegaly, Cholelithiasis, Abnormality of the spleen, Splenomegaly |
ORPHA:2072 |
Steinfeld Syndrome |
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Absent gallbladder |
OMIM:184705 |
22Q11.2 Deletion Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Hypoparathyroidism, Cryptorchidism, Cholelithiasis |
ORPHA:567 |
Cerebrotendinous Xanthomatosis |
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Prolonged neonatal jaundice, Cholelithiasis |
ORPHA:909 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Pancreatic hypoplasia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Pancreatic aplasia... |
ORPHA:2255 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Absent gallbladder, Cryptorchidism |
ORPHA:163979 |
Steinert Myotonic Dystrophy |
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Decreased response to growth hormone stimulation test, Elevated hepatic transaminase, Secondary h... |
ORPHA:273 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Absent gallbladder |
OMIM:617925 |
Trisomy 10P |
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Absent gallbladder |
ORPHA:171929 |
Digeorge Syndrome |
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Hypoplasia of the thymus, Hydrocele testis, Hepatic steatosis, Parathyroid hypoplasia, Parathyroi... |
OMIM:188400 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Absent gallbladder |
ORPHA:3186 |
Zttk Syndrome |
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Absent gallbladder |
OMIM:617140 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Biliary atresia, Pancreatic hypoplasia |
OMIM:600001 |
Tetrasomy 9P |
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Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism |
ORPHA:3310 |
Williams Syndrome |
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Cardiomegaly, Polycystic ovaries, Cholelithiasis, Cryptorchidism |
ORPHA:904 |
Ring Chromosome 13 Syndrome |
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Hypoplasia of the gallbladder |
ORPHA:96176 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder |
ORPHA:500150 |
Peters-Plus Syndrome |
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Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism |
OMIM:261540 |