{"Name":"Cholesteryl ester storage disease","DiseaseID__c":"GARD:0012099","id":12099,"encodedName":"cholesteryl-ester-storage-disease","IsDeleted":false,"Disease_Name_Full__c":"Cholesteryl ester storage disease","Xref_IDs__c":"57218003; C0008384; DOID:14502; MEDGEN:40266; MONDO:0019149; ORPHA:75234","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0019149","Disease_Description__c":"A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.","GARD_Name__c":"Cholesteryl ester storage disease","GARD_Synonym__c":"cesd; cesd - cholesterol ester storage disease; cholesterol ester hydrolase deficiency, partial; cholesterol ester storage disease; lal deficiency, partial; lipa deficiency, partial; lysosomal acid lipase deficiency, partial","Curated_Disease_Description_Source__c":"GARD:0012099","Curated_Disease_Description__c":"Cholesteryl ester storage disease is is a type of lysosomal acid lipase deficiency. It is an inherited disease that causes a buildup of fats (lipids) in the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases. Some people with Cholesteryl ester storage disease may develop liver cirrhosis that progresses to liver failure. People with Cholesteryl ester storage disease may also build up fatty deposits on the artery walls (atherosclerosis). This buildup can narrow the arteries and increase the risk for heart attack or stroke. Cholesteryl ester storage disease is caused by genetic changes in the LIPA gene. It is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:75234","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019149","ORPHANET_ID__c":"ORPHA:75234","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad por almacenamiento de ésteres de colesterol","Spanish_Description_Source__c":"ORPHA:75234","Spanish_Description__c":"Es una forma de deficiencia de lipasa ácida lisosomal caracterizada por el acúmulo progresivo de ésteres de colesterol y triglicéridos en tejidos y órganos, que se presenta típicamente con hepatoesplenomegalia, disfunción hepática y/o dislipidemia.","Spanish_Disease_Name__c":"enfermedad por almacenamiento de ésteres de colesterol","Spanish_GARD_Synonym__c":"enfermedad de acumulación de colesterol éster","Category_Linearization__c":"ORPHA:68367","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":"Cholesteryl ester storage disease is is a type of lysosomal acid lipase deficiency. It is an inherited disease that causes a buildup of fats (lipids) in the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases. Some people with Cholesteryl ester storage disease may develop liver cirrhosis that progresses to liver failure. People with Cholesteryl ester storage disease may also build up fatty deposits on the artery walls (atherosclerosis). This buildup can narrow the arteries and increase the risk for heart attack or stroke. Cholesteryl ester storage disease is caused by genetic changes in the LIPA gene. It is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0012099","GARD_Synonym__c":"cesd; cesd - cholesterol ester storage disease; cholesterol ester hydrolase deficiency, partial; cholesterol ester storage disease; lal deficiency, partial; lipa deficiency, partial; lysosomal acid lipase deficiency, partial","Name":"Cholesteryl ester storage disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"LAL-D Aware","Website__c":"https://laldaware.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":"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"},{"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"},{"Tag_Name__c":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:75234"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:75234"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:75234"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0008384"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012099","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK305870","Source__c":"Gene Review","Xref__c":"NBK305870"},{"URL__c":"https://www.orpha.net/en/disease/detail/75234","Source__c":"C0008384; MONDO:0019149; ORPHA:75234","Xref__c":"ORPHA:75234"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0008384","Source__c":"C0008384","Xref__c":"C0008384"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=57218003","Source__c":"C0008384; MONDO:0019149","Xref__c":"57218003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=40266","Source__c":"C0008384","Xref__c":"MEDGEN:40266"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14502","Source__c":"MONDO:0019149","Xref__c":"DOID:14502"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019149","Source__c":"GARD:0012099","Xref__c":"MONDO:0019149"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015217","Source__c":"C0008384","Xref__c":"D015217"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LIPA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lipa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Calcification within the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010512","HPO_Name__c":"Adrenal calcification","Feature_System__c":"Musculoskeletal System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Frequent (30-79%)","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:75234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Extreme dilation of the submucusoal veins in the lower portion of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002040","HPO_Synonym__c":"Enlarged vein in esophagus","HPO_Name__c":"Esophageal varix","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002634","HPO_Name__c":"Arteriosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75234","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Endocrine","Gastroenterology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Endocrine","Gastroenterology","Pediatrics"],"Account":["Lysosomal"]},"synonyms":["cesd"," cesd - cholesterol ester storage disease"," cholesterol ester hydrolase deficiency, partial"," cholesterol ester storage disease"," lal deficiency, partial"," lipa deficiency, partial"," lysosomal acid lipase deficiency, partial"],"spanishId":12100,"spanishName":"---"}