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741 Possible Causes for Autosomal Recessive, Cholelithiasis

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[ncbi.nlm.nih.gov] Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of iron metabolism that most commonly manifests in the fourth or fifth decade of life.[ncbi.nlm.nih.gov] Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion.[ncbi.nlm.nih.gov]

  • Erythropoietic Protoporphyria

    […] effect from the mutant FECH allele. 25 The prevalence of autosomal recessive EPP has not been established.[jmg.bmj.com] Some authors believe that EPP should be suspected when cholelithiasis presents in childhood[ 21 ].[doi.org] EPP is inherited in an autosomal recessive manner.[ncbi.nlm.nih.gov]

  • Hereditary Spherocytosis

    […] spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive[ncbi.nlm.nih.gov] This is a report of an 11 years old male diagnosed case of hereditary spherocytosis who presented with jaundice, splenomegaly and cholelithiasis.[ncbi.nlm.nih.gov] This condition can also be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[ghr.nlm.nih.gov]

  • Progressive Familial Intrahepatic Cholestasis

    METHODS: Because of common ancestry, and an autosomal recessive mode of inheritance, it was hypothesized that all affected and no unaffected individuals would be homozygous[ncbi.nlm.nih.gov] Two siblings presented, before the age of 30 years, recurrent symptomatic cholelithiasis and extensive biliary fibrosis that progressed towards portal hypertension and liver[ncbi.nlm.nih.gov] Severe pruritus and high serum bile acid concentrations are the most important diagnostic criteria of this autosomal recessive inherited disease.[ncbi.nlm.nih.gov]

  • Congenital Hepatic Fibrosis

    recessive polycystic kidney disease (ARPKD) is a developmental disorder that mainly affects the kidneys and the biliary tract.[ncbi.nlm.nih.gov] Clinical GI issues: recurrent cholangitis, portal htn, cholelithiasis, and cholangiocarcinoma. -Pediatr Transplantation 2005; 9: 634-9. -Hepatology 2004; 40: 774-82.[gutsandgrowth.wordpress.com] OBJECTIVES: The published natural history of congenital hepatic fibrosis (CHF) was examined to inform clinical decision making in autosomal recessive polycystic kidney disease[ncbi.nlm.nih.gov]

  • Cystic Fibrosis

    From Wikidata Jump to navigation Jump to search autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.[wikidata.org] […] replacement of pancreas pancreatitis ( acute and chronic ) pancreatic cysts liver hepatic steatosis focal biliary and multilobular cirrhosis portal hypertension biliary system cholelithiasis[radiopaedia.org] […] obstruction syndrome Rectal prolapse Vitamin deficiency (especially fat-soluble vitamins) Fatty liver Focal biliary cirrhosis Portal hypertension Liver failure Cholecystitis and cholelithiasis[emedicine.medscape.com]

  • Pyruvate Kinase Deficiency

    Hemolytic anemia due to deficiency of erythrocytic pyruvate kinase is a rare autosomal recessive disorder.[ncbi.nlm.nih.gov] […] laparoscopic splenectomy and cholecystectomy is safe and effective for the management of hemolytic anemia resulting from pyruvatre kinase deficiency and associated with cholelithiasis[ncbi.nlm.nih.gov] Pyruvate kinase deficiency (PKD) is one of the most common enzymatic defects in humans and it is an autosomal recessive disorder causing chronic nonspherocytic hemolytic anemia[ncbi.nlm.nih.gov]

  • Beta Thalassemia

    Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB gene in each cell have mutations.[ghr.nlm.nih.gov] Hypersplenism, cholelithiasis, extramedullary hematopoiesis, thrombotic complications and progressive iron overload are the main clinical features that may complicate the[orpha.net] These may include splenomegaly, iron overload, and cholelithiasis.[symptoma.com]

  • Sickle Cell Disease

    Abstract Sickle cell disease (SCD) is an autosomal recessive disorder that results in hemolytic anemia related to abnormal hemoglobin and erythrocyte levels.[ncbi.nlm.nih.gov] […] sickle complications comparing the survivors of septicemia to the non-infected patients was: subsequent death 1.76, retinopathy 4.06, avascular necrosis 1.95, symptomatic cholelithiasis[ncbi.nlm.nih.gov] Sickle cell disease (SCD) is an autosomal recessive disorder characterized by production of abnormal hemoglobin S and is associated with high morbidity and mortality.[ncbi.nlm.nih.gov]

  • Cooley's Anemia

    recessive trait requiring that both parents pass on a copy of the defective gene located on the chromosome numbered 11.[merriam-webster.com] In cases of symptomatic cholelithiasis, cholecystectomy may be considered. This procedure may be performed together with splenectomy.[symptoma.com] […] particularly in the middle and anterior portions of the ribs premature fusion of the epiphyses osteoporosis 4 extramedullary hematopoiesis Gastrointestinal: hepatobiliary cholelithiasis[radiopaedia.org]

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