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