Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":3,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":9,"sourceGroups":{"omim":6,"orphanet":0,"published":3}},"features":[{"hpoId":"HP:0001084","label":"Corneal arcus","primary":false},{"hpoId":"HP:0003233","label":"Decreased circulating HDL-C concentration","primary":false},{"hpoId":"HP:0025433","label":"Decreased lecithin cholesterol acyl transferase level","primary":false},{"hpoId":"HP:0003651","label":"Foam cells","primary":false},{"hpoId":"HP:0001878","label":"Hemolytic anemia","primary":false},{"hpoId":"HP:0002155","label":"Hypertriglyceridemia","primary":false},{"hpoId":"HP:0001895","label":"Normochromic anemia","primary":false},{"hpoId":"HP:0000093","label":"Proteinuria","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false}],"ledeHtml":"Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.","mondoId":"MONDO:0009515","records":[{"frequencyKind":"reported","key":"010652c7a68bdd877e5bfc1947e005662f0a877ae8cf992119441395731d2d8b","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:245900","disease_name":"Lecithin:cholesterol acyltransferase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001895","is_excluded":false,"label":"Normochromic anemia","onset_id":null,"reference":"OMIM:245900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"175bdf44a38116319aa84169c9c8c4c19c767b952c09489731ce454bba6094d0","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245900","disease_name":"Lecithin:cholesterol acyltransferase deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0025433","is_excluded":false,"label":"Decreased lecithin cholesterol acyl transferase level","onset_id":null,"reference":"PMID:2370048","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1bbbe76bc7d4c9caf546919455a393e00db48a372e48c5a05724cbbe255b1c7d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:245900","disease_name":"Lecithin:cholesterol acyltransferase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"OMIM:245900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2e01ab42ba6bf3e8b580f65351ef77a2006b75cf72faed4eedcd360ffef3b110","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245900","disease_name":"Lecithin:cholesterol acyltransferase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002155","is_excluded":false,"label":"Hypertriglyceridemia","onset_id":null,"reference":"OMIM:245900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"3fbfff3bee72ffc0ba6e66e722194c62116787c805cb72d1cf451b03956a98f9","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:245900","disease_name":"Lecithin:cholesterol acyltransferase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003651","is_excluded":false,"label":"Foam cells","onset_id":null,"reference":"OMIM:245900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4ff0385ffcf39f9a33fbda5b92d9239052d173dbf87dc99feccd51e0357f13f4","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:245900","disease_name":"Lecithin:cholesterol acyltransferase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"OMIM:245900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"52d70d5a1b8595b6aac69da17c82e1d2bee5e140523b5efcc3f53bd1c5e732f0","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245900","disease_name":"Lecithin:cholesterol acyltransferase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003233","is_excluded":false,"label":"Decreased circulating HDL-C concentration","onset_id":null,"reference":"OMIM:245900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ab51048ee9103d3a4456cbc5c95de06997df0ee2ba1c2725b6cc782d1a5a6c38","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:245900","disease_name":"Lecithin:cholesterol acyltransferase deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000093","is_excluded":false,"label":"Proteinuria","onset_id":null,"reference":"PMID:2370048","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b5dd9ac38e152e87e3b3e7ac428c00f2262e1a454293d4ab06fdcaf2bb529ed9","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:245900","disease_name":"Lecithin:cholesterol acyltransferase deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001084","is_excluded":false,"label":"Corneal arcus","onset_id":null,"reference":"PMID:2370048","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Complete LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT).
The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL).
LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol deposits in the corneas, kidneys, and other tissues and organs. LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas.
","key":"forms","title":"What causes Complete LCAT deficiency?"},{"bodyHtml":"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).
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"complete-lcat-deficiency","sourceDocuments":[{"name":"Complete LCAT deficiency","reviewed":"2013-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:30.722088+00:00","label":"Causes","pageSha256":"c46204756d63680e1de8544abbb823a06ec53212b4c84f1f9d159a1b663e6bf5","sourceUrl":"https://medlineplus.gov/genetics/condition/complete-lcat-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/complete-lcat-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Complete LCAT deficiency"},"schemaVersion":1}