{"orpha":79230,"name":"HJV or HAMP-related hemochromatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hemochromatosis type 2","Juvenile hemochromatosis"],"definition":"An early-onset and most severe form of rare hemochromatosis characterized by the usual features of hemochromatosis accompanied by cardiomyopathy and hypogonadism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79230/","orphanet_url":"https://www.orpha.net/en/disease/detail/79230","names":{"fr":{"name":"Hémochromatose associée à HJV ou HAMP","synonyms":["Hémochromatose de type 2","Hémochromatose juvénile"],"definition":"Forme la plus précoce et la plus sévère d'hémochromatose rare présentant des caractéristiques habituelles de l'hémochromatose accompagnée d'une cardiomyopathie et d'un hypogonadisme."},"de":{"name":"Hämochromatose, HJV oder HAMP-assoziierte","synonyms":["Hämochromatose Typ 2","Hämochromatose, juvenile"],"definition":"Eine früh einsetzende und schwerste Form der Hämochromatose (HC), die sich durch die üblichen Merkmale der Hämochromatose auszeichnet, begleitet von Kardiomyopathie und Hypogonadismus."},"es":{"name":"Hemocromatosis asociada a los genes HJV o HAMP","synonyms":["Hemocromatosis juvenil","Hemocromatosis tipo 2"],"definition":"Es una forma poco frecuente de hemocromatosis, de inicio precoz y más grave, caracterizada por las manifestaciones habituales de la hemocromatosis asociada a miocardiopatía e hipogonadismo."},"it":{"name":"Emocromatosi correlata a HJV o HAMP","synonyms":["Emocromatosi giovanile","Emocromatosi tipo 2"]},"nl":{"name":"HJV- of HAMP-gerelateerde hemochromatose","synonyms":["Hemochromatose type 2","Juveniele hemochromatose"],"definition":"Een vroeg optredende en ergste vorm van zeldzame hemochromatose, gekenmerkt door de gebruikelijke kenmerken van hemochromatose vergezeld van cardiomyopathie en hypogonadisme."},"pt":{"name":"Hemocromatose relacionada com HJV ou HAMP","synonyms":["Hemocromatose juvenil","Hemocromatose tipo 2"],"definition":"Forma rara de hemocromatose de início precoce e mais grave, caracterizada pelas características habituais da hemocromatose acompanhadas de cardiomiopatia e hipogonadismo."},"pl":{"name":"Hemochromatoza typu 2","synonyms":["Hemochromatoza młodzieńcza","Hemochromatoza związana z HJV lub HAMP"]},"cs":{"name":"Hemochromatóza, typ 2","synonyms":["Juvenilní hemochromatóza"]},"uk":{"name":"HJV або HAMP-асоційований гемохроматоз","synonyms":["Гемохроматоз типу 2","Ювенільний гемохроматоз"],"definition":"An early-onset and most severe form of rare hemochromatosis characterized by the usual features of hemochromatosis accompanied by cardiomyopathy and hypogonadism."},"zh":{"name":"血色素沉着病2型","synonyms":["青少年血红蛋白沉积症"]},"tr":{"name":"Hemokromatoz tip 2","synonyms":["jüvenil hemokromatoz"]}},"xrefs":[{"source":"OMIM","code":"602390","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613313","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"303352828"},{"source":"MONDO","code":"0019257","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537247","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268060","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10092","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":648569,"name":"Non-HFE-related hemochromatosis","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"HAMP","name":"hepcidin antimicrobial peptide","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301349[PMID]","hgnc":"15598","ensembl":"ENSG00000105697","omim":"606464","loci":["19q13.12"]},{"symbol":"HJV","name":"hemojuvelin BMP co-receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301349[PMID]","hgnc":"4887","ensembl":"ENSG00000168509","omim":"608374","loci":["1q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":74.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"22083147[PMID]","terms":[{"hpo":"HP:0011031","label":"Abnormality of iron homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012463","label":"Elevated transferrin saturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003040","label":"Arthropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012093","label":"Abnormality of endocrine pancreas physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null}]}}