Version 2.80

Term Description

Dominant cause of hemochromatosis (>90% cases) at least in US

Part Description

LP19725-8   HFE gene.p.Cys282Tyr
Hereditary Hemochromatosis (HH) causes excess iron absorption that leads to iron deposits in tissues and organs, eventually leading to organ dysfunction. Two point mutations in the HLA locus of chromosome 6 are responsible for the majority of HH cases-C282Y and H63D mutations. The C282Y mutation prevents the interaction of the HFE protein with Beta-2 microglobulin and leads to an inability to bind the transferrin receptor. Information from Wikipedia 2006 10 24. Homozygous C282Y mutation accounts for up to 90% of hemochromatosis patients. C282Y and H63D or S65C heterozygotes are associated with milder forms of HH. Heterozygotes for any of these single mutations are not significantly associated with HH. Information from ARUP 2007 01 24. Source: Regenstrief Institute

Fully-Specified Name

Component
HFE gene.p.Cys282Tyr
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Long Common Name
HFE gene.p.Cys282Tyr [Presence] in Blood or Tissue by Molecular genetics method
Short Name
HFE p.C282Y Bld/T Ql
Display Name
HFE gene.p.Cys282Tyr Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
HFE gene p.Cys282Tyr, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73 (MIN)
Change Reason
Assumed top2k rank from deprecated term. Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
3058

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: HFE C282Y Mutation B/T
de-DE German (Germany) HFE-Gen.p.Cys282Tyr:Nachweis oder Schwellenwert:Zeitpunkt:Blut oder Gewebe:Ordinal:Molekulargenetisch
el-GR Greek (Greece) Γονίδιο HFE p.Cys282Tyr:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: PrThr
es-AR Spanish (Argentina) gen HFE.P.C282Y:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen HFE p.C282Y:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HFE p. Cys282Tyr:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) HFE gène p.Cys282Tyr:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HFE, gene.p.Cys282Tyr:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene HFE Gene HFE p.Cys282Tyr Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) HFE 유전자.p.C282Y:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) HFE-gen.p.C282Y:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: HFE gen HFE gen.p.C282Y molgen
pt-BR Portuguese (Brazil) HFE gene.p.C282Y:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; HFE p.C282Y; HLAH; HH; Hereditary hemochromatosis; Haemochromatosis; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HFE ген.p.C282Y:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HFE geni.p.C282Y:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HFE 基因.p.C282Y:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: HFE p.C282Y HH;HLAH;色素性肝硬变;血色沉着;血色沉着病;血色病;血色素沉着;血色素沉着病;血色素沉着症;遗传性色素性肝硬变;遗传性血色沉着;遗传性血色沉着病;遗传性血色病;遗传性血色素沉着;遗传性血色素沉着病;遗传性青铜色糖尿病;青铜色糖尿病 P 型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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