{"Name":"Fish-eye disease","DiseaseID__c":"GARD:0006450","id":6450,"encodedName":"fish-eye-disease","IsDeleted":false,"Disease_Name_Full__c":"Fish-eye disease","Xref_IDs__c":"238092004; C0342895; MEDGEN:83354; MONDO:0007620; OMIM:136120; ORPHA:79292","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007620","Disease_Description__c":"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.","GARD_Name__c":"Fish-eye disease","GARD_Synonym__c":"alpha-lcat deficiency; dyslipoproteinemic corneal dystrophy; fed; fed - fish-eye disease; fish eye disease; lcata deficiency; partial lcat (lecithin-cholesterol acyltransferase) deficiency; partial lcat deficiency","Curated_Disease_Description_Source__c":"GARD:0006450","Curated_Disease_Description__c":"Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, 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 fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:79292","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007620","ORPHANET_ID__c":"ORPHA:79292","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad del ojo de pez","Spanish_Description_Source__c":"ORPHA:79292","Spanish_Description__c":"La enfermedad del ojo de pez (FED) es una forma genética del déficit de LCAT (lecitina-colesterol-acil-transferasa) (consulte este término) caracterizado clínicamente por opacidades de la córnea, y bioquímicamente por una reducción significativa del colesterol HDL y un déficit parcial de la enzima LCAT.","Spanish_Disease_Name__c":"enfermedad del ojo de pez","Spanish_GARD_Synonym__c":"deficiencia parcial de lcat; fed","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":"Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, 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 fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision.","Curated_Disease_Description_Source__c":"GARD:0006450","GARD_Synonym__c":"alpha-lcat deficiency; dyslipoproteinemic corneal dystrophy; fed; fed - fish-eye disease; fish eye disease; lcata deficiency; partial lcat (lecithin-cholesterol acyltransferase) deficiency; partial lcat deficiency","Name":"Fish-eye disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Adult","Provided_By__c":"ORPHA:79292"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:79292"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342895"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006450","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342895","Source__c":"C0342895","Xref__c":"C0342895"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238092004","Source__c":"C0342895; MONDO:0007620","Xref__c":"238092004"},{"URL__c":"https://www.omim.org/entry/136120","Source__c":"C0342895; MONDO:0007620; ORPHA:79292","Xref__c":"OMIM:136120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83354","Source__c":"C0342895","Xref__c":"MEDGEN:83354"},{"URL__c":"https://www.orpha.net/en/disease/detail/79292","Source__c":"C0342895; MONDO:0007620; ORPHA:79292","Xref__c":"ORPHA:79292"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007620","Source__c":"GARD:0006450","Xref__c":"MONDO:0007620"},{"URL__c":"https://medlineplus.gov/genetics/condition/fish-eye-disease","Source__c":"GARD:0006450","Xref__c":"https://medlineplus.gov/genetics/condition/fish-eye-disease"}],"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":"ORPHA:79292","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002621","HPO_Synonym__c":"Atherosclerotic cardiovascular disease; Narrowing and hardening of arteries","HPO_Name__c":"Atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79292","HPO_Frequency__c":"Occasional (5-29%)","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:79292","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79292","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001681","HPO_Name__c":"Angina pectoris","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79292","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79292","HPO_Frequency__c":"Occasional (5-29%)","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:79292","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:79292","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Nephrology","Endocrine","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology"]},"synonyms":["alpha-lcat deficiency"," dyslipoproteinemic corneal dystrophy"," fed"," fed - fish-eye disease"," fish eye disease"," lcata deficiency"," partial lcat (lecithin-cholesterol acyltransferase) deficiency"," partial lcat deficiency"]}