{"Name":"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency","DiseaseID__c":"GARD:0020441","id":20441,"encodedName":"hypercholesterolemia-due-to-cholesterol-7alpha-hydroxylase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency","Xref_IDs__c":"773726000; C4751204; MEDGEN:1653798; MONDO:0016203; ORPHA:209902","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:209902","Disease_Description__c":"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.","GARD_Name__c":"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:209902","Curated_Disease_Description__c":"A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:209902","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016203","ORPHANET_ID__c":"ORPHA:209902","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipercolesterolemia por deficiencia de colesterol 7-alfa-hidroxilasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipercolesterolemia por deficiencia de colesterol 7-alfa-hidroxilasa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97978","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 sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.","Curated_Disease_Description_Source__c":"ORPHA:209902","Name":"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:209902"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751204","Source__c":"C4751204","Xref__c":"C4751204"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1653798","Source__c":"C4751204","Xref__c":"MEDGEN:1653798"},{"URL__c":"https://www.orpha.net/en/disease/detail/209902","Source__c":"C4751204; MONDO:0016203; ORPHA:209902","Xref__c":"ORPHA:209902"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016203","Source__c":"GARD:0020441","Xref__c":"MONDO:0016203"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773726000","Source__c":"C4751204","Xref__c":"773726000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP7A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011980","HPO_Name__c":"Cholesterol gallstones","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001403","HPO_Synonym__c":"Macrovesicular steatosis","HPO_Name__c":"Macrovesicular hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001677","HPO_Synonym__c":"Coronary atherosclerosis; Coronary disease; Plaque build-up in arteries supplying blood to heart","HPO_Name__c":"Coronary artery atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004943","HPO_Name__c":"Accelerated atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001396","HPO_Synonym__c":"Slowed or blocked flow of bile from liver","HPO_Name__c":"Cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Frequent (30-79%)","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:209902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of vitamin E in the blood circulation outside of normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100514","HPO_Name__c":"Abnormal circulating vitamin E concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An acute form of hepatic steatosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006573","HPO_Synonym__c":"Acute fatty liver","HPO_Name__c":"Acute hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of vitamin A in the blood circulation outside limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008372","HPO_Name__c":"Abnormal circulating vitamin A concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of atheromas or atherosclerotic plaques in the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012397","HPO_Synonym__c":"Atherosclerosis of the aorta; Atherosclerotic changes of aorta","HPO_Name__c":"Aortic atherosclerotic lesion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209902","HPO_Frequency__c":"Very frequent (80-99%)","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:209902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of low-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003141","HPO_Synonym__c":"Hyperbetalipoproteinemia; Increased beta-lipoproteins; Increased circulating LDL level; Increased circulating low-density lipoprotein cholesterol; Increased circulating low-density lipoprotein levels; Increased LDL cholesterol; Increased LDLc concentration; Increased plasma LDL levels","HPO_Name__c":"Increased LDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine"]},"synonyms":[""]}