{"Name":"Hereditary hyperferritinemia with congenital cataracts","DiseaseID__c":"GARD:0002806","id":2806,"encodedName":"hereditary-hyperferritinemia-with-congenital-cataracts","IsDeleted":false,"Disease_Name_Full__c":"Hereditary hyperferritinemia with congenital cataracts","Xref_IDs__c":"702398007; C1833213; C538137; DOID:0111256; MEDGEN:318812; MONDO:0010952; OMIM:600886; ORPHA:163","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010952","Disease_Description__c":"A rare genetic disease characterized by the association of early onset cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.","GARD_Name__c":"Hereditary hyperferritinemia with congenital cataracts","GARD_Synonym__c":"bonneau-beaumont syndrome; hereditary hyperferritinemia cataract syndrome; hereditary hyperferritinemia-cataract syndrome; hhcs; hyperferritinemia cataract syndrome; hyperferritinemia with or without cataract","Curated_Disease_Description_Source__c":"GARD:0002806","Curated_Disease_Description__c":"Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population.  Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light. Although the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies.","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:163","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010952","ORPHANET_ID__c":"ORPHA:163","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiperferritinemia hereditaria-catarata","Spanish_Description_Source__c":"ORPHA:163","Spanish_Description__c":"Es una enfermedad genética poco frecuente caracterizada por la asociación de cataratas de inicio precoz con concentraciones persistentemente elevadas de ferritina plasmática en ausencia de sobrecarga de hierro.","Spanish_Disease_Name__c":"síndrome de hiperferritinemia hereditaria-catarata","Spanish_GARD_Synonym__c":"enfermedad de hiperferritinemia hereditaria-cataratas; hhcs; hiperferritinemia hereditaria con cataratas","Category_Linearization__c":"ORPHA:97966","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":"Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population.  Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light. Although the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies.","Curated_Disease_Description_Source__c":"GARD:0002806","GARD_Synonym__c":"bonneau-beaumont syndrome; hereditary hyperferritinemia cataract syndrome; hereditary hyperferritinemia-cataract syndrome; hhcs; hyperferritinemia cataract syndrome; hyperferritinemia with or without cataract","Name":"Hereditary hyperferritinemia with congenital cataracts","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":"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:163"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1833213"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002806","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/163","Source__c":"C1833213; MONDO:0010952; ORPHA:163","Xref__c":"ORPHA:163"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538137","Source__c":"MONDO:0010952","Xref__c":"C538137"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833213","Source__c":"C1833213","Xref__c":"C1833213"},{"URL__c":"https://www.omim.org/entry/600886","Source__c":"C1833213; MONDO:0010952","Xref__c":"OMIM:600886"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318812","Source__c":"C1833213","Xref__c":"MEDGEN:318812"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702398007","Source__c":"C1833213; MONDO:0010952","Xref__c":"702398007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111256","Source__c":"MONDO:0010952","Xref__c":"DOID:0111256"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010952","Source__c":"GARD:0002806","Xref__c":"MONDO:0010952"},{"URL__c":"https://medlineplus.gov/genetics/condition/hyperferritinemia-cataract-syndrome","Source__c":"GARD:0002806","Xref__c":"https://medlineplus.gov/genetics/condition/hyperferritinemia-cataract-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FTL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ftl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["bonneau-beaumont syndrome"," hereditary hyperferritinemia cataract syndrome"," hereditary hyperferritinemia-cataract syndrome"," hhcs"," hyperferritinemia cataract syndrome"," hyperferritinemia with or without cataract"]}