{"Name":"Low phospholipid associated cholelithiasis","DiseaseID__c":"GARD:0016683","id":16683,"encodedName":"low-phospholipid-associated-cholelithiasis","IsDeleted":false,"Disease_Name_Full__c":"Low phospholipid associated cholelithiasis","Xref_IDs__c":"715577009; C2609268; MEDGEN:760527; MONDO:0010939; OMIM:600803; ORPHA:69663","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010939","Disease_Description__c":"A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.","GARD_Name__c":"Low phospholipid associated cholelithiasis","GARD_Synonym__c":"abcb4 gene mutation-associated cholelithiasis; abcb4-related cholelithiasis; cholelithiasis with abcb4 gene mutation; cholelithiasis, low phospholipid-associated; gallbladder disease 1; gallbladder disease type 1; gallstone cholecystitis; gbd1; low phospholipid-associated cholelithiasis; lpac","Curated_Disease_Description_Source__c":"MONDO:0010939","Curated_Disease_Description__c":"A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:69663","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010939","ORPHANET_ID__c":"ORPHA:69663","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colelitiasis asociada a fosfolípidos bajos","Spanish_Description_Source__c":"ORPHA:69663","Spanish_Description__c":"Es una enfermedad hepática genética poco común caracterizada por una baja concentración de fosfolípidos biliares con colelitiasis sintomática y recurrente que se desarrolla antes de los 40 años.","Spanish_Disease_Name__c":"colelitiasis asociada a fosfolípidos bajos","Spanish_GARD_Synonym__c":"colelitiasis asociada a abcb4; síndrome lpac","Category_Linearization__c":"ORPHA:57146","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.","Curated_Disease_Description_Source__c":"MONDO:0010939","GARD_Synonym__c":"abcb4 gene mutation-associated cholelithiasis; abcb4-related cholelithiasis; cholelithiasis with abcb4 gene mutation; cholelithiasis, low phospholipid-associated; gallbladder disease 1; gallbladder disease type 1; gallstone cholecystitis; gbd1; low phospholipid-associated cholelithiasis; lpac","Name":"Low phospholipid associated cholelithiasis","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:69663"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2609268","Source__c":"C2609268","Xref__c":"C2609268"},{"URL__c":"https://www.omim.org/entry/600803","Source__c":"C2609268; MONDO:0010939; ORPHA:69663","Xref__c":"OMIM:600803"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=760527","Source__c":"C2609268","Xref__c":"MEDGEN:760527"},{"URL__c":"https://www.orpha.net/en/disease/detail/69663","Source__c":"C2609268; MONDO:0010939; ORPHA:69663","Xref__c":"ORPHA:69663"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715577009","Source__c":"C2609268; MONDO:0010939","Xref__c":"715577009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010939","Source__c":"GARD:0016683","Xref__c":"MONDO:0010939"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCB4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcb4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammatory changes in the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001082","HPO_Synonym__c":"Gallbladder inflammation","HPO_Name__c":"Cholecystitis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030991","HPO_Synonym__c":"Fibrous cholangitis","HPO_Name__c":"Sclerosing cholangitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in the small bile ducts within the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001406","HPO_Name__c":"Intrahepatic cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030948","HPO_Synonym__c":"Elevated serum GGT","HPO_Name__c":"Elevated gamma-glutamyltransferase level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002896","HPO_Synonym__c":"Liver cancer; Liver tumor","HPO_Name__c":"Neoplasm of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Obstruction affecting the biliary tree.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005230","HPO_Name__c":"Biliary tract obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030151","HPO_Synonym__c":"Bile duct inflammation","HPO_Name__c":"Cholangitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002613","HPO_Name__c":"Biliary cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A circumscribed area of pus or necrotic debris in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100523","HPO_Synonym__c":"Hepatic abscess; Liver abscess","HPO_Name__c":"Liver abscess","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased body weight with a body mass index of 25-29.9 kg per square meter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025502","HPO_Name__c":"Overweight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69663","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011848","HPO_Name__c":"Abdominal colic","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["abcb4 gene mutation-associated cholelithiasis"," abcb4-related cholelithiasis"," cholelithiasis with abcb4 gene mutation"," cholelithiasis, low phospholipid-associated"," gallbladder disease 1"," gallbladder disease type 1"," gallstone cholecystitis"," gbd1"," low phospholipid-associated cholelithiasis"," lpac"]}