{"Name":"Norum disease","DiseaseID__c":"GARD:0004011","id":4011,"encodedName":"norum-disease","IsDeleted":false,"Disease_Name_Full__c":"Norum disease","Xref_IDs__c":"238091006; C0023195; C84813; DOID:1391; MEDGEN:9698; MONDO:0009515; OMIM:245900; ORPHA:79293","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009515","Disease_Description__c":"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.","GARD_Name__c":"Norum disease","GARD_Synonym__c":"complete lcat (lecithin-cholesterol acyltransferase) deficiency; complete lcat deficiency; familial lcat deficiency; familial lecithin cholesterol acyltransferase deficiency; fld; lecithin:cholesterol acyltransferase deficiency","Curated_Disease_Description_Source__c":"GARD:0004011","Curated_Disease_Description__c":"Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.  In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision.  People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications.  Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:79293","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009515","ORPHANET_ID__c":"ORPHA:79293","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia familiar de lcat","Spanish_Description_Source__c":"ORPHA:79293","Spanish_Description__c":"El déficit familiar de LCAT (lecitina-colesterol-acil-transferasa) (FLD) es una forma del déficit de lecitina-colesterol-acil-transferasa (LCAT; consulte este término) caracterizado clínicamente por opacidades de la córnea, anemia hemolítica e insuficiencia renal, y bioquímicamente por una reducción drástica del colesterol HDL y un déficit completo de la enzima LCAT.","Spanish_Disease_Name__c":"deficiencia familiar de lcat","Spanish_GARD_Synonym__c":"deficiencia completa de lcat; enfermedad de norum; fld","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":"Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.  In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision.  People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications.  Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).","Curated_Disease_Description_Source__c":"GARD:0004011","GARD_Synonym__c":"complete lcat (lecithin-cholesterol acyltransferase) deficiency; complete lcat deficiency; familial lcat deficiency; familial lecithin cholesterol acyltransferase deficiency; fld; lecithin:cholesterol acyltransferase deficiency","Name":"Norum disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation of the National Lipid Association","Website__c":"https://www.learnyourlipids.com/"},{"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":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood 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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:79293"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004011","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/79293","Source__c":"C0023195; MONDO:0009515; ORPHA:79293","Xref__c":"ORPHA:79293"},{"URL__c":"https://www.omim.org/entry/245900","Source__c":"C0023195; MONDO:0009515; ORPHA:79293","Xref__c":"OMIM:245900"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1391","Source__c":"MONDO:0009515","Xref__c":"DOID:1391"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84813","Source__c":"C0023195; MONDO:0009515","Xref__c":"C84813"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023195","Source__c":"C0023195","Xref__c":"C0023195"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9698","Source__c":"C0023195","Xref__c":"MEDGEN:9698"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238091006","Source__c":"MONDO:0009515","Xref__c":"238091006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007863","Source__c":"C0023195","Xref__c":"D007863"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009515","Source__c":"GARD:0004011","Xref__c":"MONDO:0009515"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1264565005","Source__c":"C0023195","Xref__c":"1264565005"},{"URL__c":"https://medlineplus.gov/genetics/condition/complete-lcat-deficiency"},{"URL__c":"https://medlineplus.gov/genetics/condition/complete-lcat-deficiency","Source__c":"GARD:0004011","Xref__c":"https://medlineplus.gov/genetics/condition/complete-lcat-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LCAT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lcat","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:245900","Feature__r":{"HPO_Description__c":"An decreased concentration of high-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003233","HPO_Synonym__c":"Decreased circulating high-density lipoprotein cholesterol; Decreased circulating high-density lipoprotein levels; Decreased HDL cholesterol; Hypoalphalipoproteinemia; Low HDL-cholesterol","HPO_Name__c":"Decreased HDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:245900","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001895","HPO_Name__c":"Normochromic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001084","HPO_Synonym__c":"Anterior embryotoxon; Arcus lipoidis; Arcus senilis; Corneal annulus; Gerontoxon","HPO_Name__c":"Corneal arcus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245900","Feature__r":{"HPO_Description__c":"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003651","HPO_Synonym__c":"Foamy histiocytes; Foamy macrophages; Lipid-laden histiocytes; Presence of foam cells","HPO_Name__c":"Foam cells","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245900","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245900","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":"OMIM:245900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:245900","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced level of the enzyme lecithin cholesterol acyl transferase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025433","HPO_Name__c":"Decreased lecithin cholesterol acyl transferase level","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Endocrine","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Nephrology","Endocrine","Hematology","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology"]},"synonyms":["complete lcat (lecithin-cholesterol acyltransferase) deficiency"," complete lcat deficiency"," familial lcat deficiency"," familial lecithin cholesterol acyltransferase deficiency"," fld"," lecithin:cholesterol acyltransferase deficiency"],"spanishId":13290,"spanishName":"deficiencia-familiar-de-lcat"}