{"orpha":465508,"name":"Symptomatic form of HFE-related hemochromatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Symptomatic form of classic hemochromatosis","Symptomatic form of hemochromatosis type 1"],"definition":"A rare form of hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-465508/","orphanet_url":"https://www.orpha.net/en/disease/detail/465508","names":{"fr":{"name":"Hémochromatose associée à HFE, forme symptomatique","synonyms":["Forme symptomatique de l'hémochromatose classique","Hémochromatose de type 1, forme symptomatique"],"definition":"Forme rare d'hémochromatose caractérisée par une régulation inappropriée de l'absorption intestinale du fer entraînant un stockage excessif du fer dans divers organes, se manifestant par de nombreux signes et symptômes, notamment des douleurs abdominales, une faiblesse, une léthargie, une perte de poids, des taux élevés d'aminotransférases sériques, une pigmentation excessive de la peau et/ou une arthropathie des articulations métacarpophalangiennes. Elle s'accompagne souvent d'autres symptômes, tels que l'hépatomégalie, la cirrhose, la fibrose hépatique, le carcinome hépatocellulaire, la cardiomyopathie restrictive et/ou le diabète sucré."},"de":{"name":"Symptomatische Form der HFE-Gen-assoziierten Hämochromatose","synonyms":["Hämochromatose Typ 1, symptomatische Form","Symptomatische Form der klassischen Hämochromatose"],"definition":"Eine seltene Form der Hämochromatose, die durch eine unangemessen regulierte intestinale Eisenabsorption gekennzeichnet ist, die zu einer übermäßigen Eisenspeicherung in verschiedenen Organen führt und sich durch eine Vielzahl von Anzeichen und Symptomen äußert, darunter Bauchschmerzen, Schwäche, Lethargie, Gewichtsverlust, erhöhte Serumaminotransferase-Werte, verstärkte Hautpigmentierung und/oder Arthropathie in den Metakarpophalangealgelenken. Weitere häufige Begleiterscheinungen sind Hepatomegalie, Leberzirrhose, Leberfibrose, hepatozelluläres Karzinom, restriktive Kardiomyopathie und/oder Diabetes mellitus."},"es":{"name":"Forma sintomática de la hemocromatosis asociada a HFE","synonyms":["Forma sintomática de la hemocromatosis clásica","Forma sintomática de la hemocromatosis tipo 1"],"definition":"Es una forma poco frecuente de hemocromatosis caracterizada por una absorción intestinal de hierro defectuosa que conduce a un almacenamiento excesivo de hierro en varios órganos y que se manifiesta con una amplia gama de signos y síntomas, que incluyen dolor abdominal, debilidad, letargia, pérdida de peso, niveles elevados de aminotransferasas séricas, hiperpigmentación cutánea y/o artropatía en las articulaciones metacarpofalángicas. Otras manifestaciones comúnmente asociadas incluyen hepatomegalia, cirrosis, fibrosis hepática, carcinoma hepatocelular, miocardiopatía restrictiva y/o diabetes mellitus."},"it":{"name":"Forma sintomatica dell'emocromatosi correlata ad HFE","synonyms":["Forma sintomatica dell'emocromatosi classica","Forma sintomatica dell'emocromatosi tipo 1"],"definition":"La forma sintomatica dell'emocromatosi tipo 1 è un'emocromatosi ereditaria rara, caratterizzata da una alterazione dell'assorbimento intestinale del ferro, che ne causa un eccessivo accumulo in diversi organi. La malattia esordisce con vari segni e sintomi clinici, compreso il dolore addominale, la debolezza, la letargia, la perdita di peso, un aumento dei valori delle aminotransferasi nel siero, l'iperpigmentazione della cute e/o l'artropatia a livello delle articolazioni metacarpo-falangee. Altri segni clinici comuni sono l'epatomegalia, la cirrosi, la fibrosi epatica, il carcinoma epatocellulare, la cardiomiopatia restrittiva e/o il diabete mellito."},"nl":{"name":"Symptomatische vorm van HFE-gerelateerde hemochromatose","synonyms":["Symptomatische vorm van hemochromatose type 1","Symptomatische vorm van klassieke hemochromatose"],"definition":"Een zeldzame vorm van hemochromatose, gekenmerkt door inadequaat gereguleerde intestinale absorptie van ijzer, wat leidt tot overmatige ijzerstapeling in verschillende organen en zich manifesteert met een brede waaier van verschijnselen en symptomen, waaronder abdominale pijn, zwakte, slaapzucht, gewichtsverlies, verhoogde gehaltes van aminotransferasen in serum, toename van huidpigmentatie, en/of artropathie in metacarpofalangeale gewrichten. Overige gangbaar geassocieerde manifestaties zijn onder meer hepatomegalie, cirrose, leverfibrose, hepatocellulair carcinoom, restrictieve cardiomyopathie en/of diabetes mellitus."},"pt":{"name":"Forma sintomática de hemocromatose HFE-relacionada","synonyms":["Forma sintomática de hemocromatose clássica","Forma sintomática de hemocromatose tipo 1"],"definition":"Forma rara de hemocromatose caracterizada por regulação inadequada da absorção intestinal de ferro, que leva ao armazenamento excessivo de ferro em vários órgãos e se manifesta com uma vasta gama de sinais e sintomas, incluindo dor abdominal, fraqueza, letargia, perda de peso, níveis séricos elevados de aminotransferases, aumento da pigmentação da pele e/ou artropatia nas articulações metacarpofalângicas. Outras manifestações habitualmente associadas incluem hepatomegalia, cirrose, fibrose hepática, carcinoma hepatocelular, cardiomiopatia restritiva e/ou diabetes mellitus."},"pl":{"name":"Objawowa postać hemochromatozy typu 1","synonyms":["Objawowa postać hemochromatozy dziedzicznej związanej z HFE","Objawowa postać hemochromatozy klasycznej","Objawowa postać hemochromatozy związanej z HFE"],"definition":"Rzadka postać hemochromatozy charakteryzująca się nieprawidłową regulacją wchłaniania żelaza w jelitach, co prowadzi do jego nadmiernego gromadzenia w różnych narządach i objawia się szeroką gamą objawów przedmiotowych i podmiotowych, w tym bólami brzucha, osłabieniem, sennością, utratą masy ciała, podwyższonym poziomem aminotransferazy w surowicy, zwiększoną pigmentacją skóry i/lub artropatią stawów śródręczno-paliczkowych. Inne często towarzyszące objawy obejmują powiększenie wątroby, marskość wątroby, zwłóknienie wątroby, raka wątrobowokomórkowego, kardiomiopatię restrykcyjną i/lub cukrzycę."},"cs":{"name":"Symptomatická forma hemochromatózy, typ 1","synonyms":["Symptomatic form of classic hemochromatosis","Symptomatic form of HFE-related hereditary hemochromatosis","Symptomatická forma klasické hemochromatózy","Symptomatická forma dědičné hemochromatózy související s HFE"]},"uk":{"name":"Симптоматична форма гемохроматозу, повязаного з HFE","synonyms":["Симптоматична форма класичного гемохроматозу","Симптоматична форма гемохроматозу типу 1"],"definition":"A rare form of hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus."},"zh":{"name":"1型血色素沉着病的症状","synonyms":["HFE相关的遗传性血色素沉着病的症状"],"definition":"症状性血色素沉着症1型是一种罕见的遗传性血色素沉着症，其特点是肠道铁吸收调节不当，导致铁在各器官中储存过多，并表现为多种症状和体征，包括腹痛、虚弱、消瘦、体重减轻、血清转氨酶水平升高、皮肤色素沉着增加和（或）掌指关节的关节病。其他常见的相关表现包括肝肿大、肝硬化、肝纤维化、肝细胞癌、限制性心肌病和（或）糖尿病。"},"tr":{"name":"Hemokromatoz tip 1'in semptomatik formu","synonyms":["Klasik hemokromatozun semptomatik formu","HFE-ilişkili kalıtsal hemokromatozun semptomatik formu"]}},"xrefs":[{"source":"OMIM","code":"235200","qualifier":"NTBT","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0034028","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679990","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10417","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":220489,"name":"Rare hereditary hemochromatosis","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"BMP6","name":"bone morphogenetic protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28335084[PMID]","hgnc":"1073","ensembl":"ENSG00000153162","omim":"112266","loci":["6p24.3"]},{"symbol":"HFE","name":"homeostatic iron regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301613[PMID]","hgnc":"4886","ensembl":"ENSG00000010704","omim":"613609","loci":["6p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-13","source":"25454304[PMID]_20301613[PMID]","terms":[{"hpo":"HP:0011031","label":"Abnormality of iron homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012463","label":"Elevated transferrin saturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003040","label":"Arthropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007574","label":"Generalized bronze hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011911","label":"Abnormality of metacarpophalangeal joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100626","label":"Chronic hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0046504","label":"Decreased libido","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030848","label":"Elevated jugular venous pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005198","label":"Stiff interphalangeal joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000029","label":"Testicular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030153","label":"Cholangiocarcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}