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Genetic Disorders - National Human Genome Research Institute

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A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. ... As we unlock the ... Skiptomaincontent GeneticDisorders Manyhumandiseaseshaveageneticcomponent.SomeoftheseconditionsareunderinvestigationbyresearchersatorassociatedwiththeNationalHumanGenomeResearchInstitute(NHGRI). Overview AgeneticdisorderisadiseasecausedinwholeorinpartbyachangeintheDNAsequenceawayfromthenormalsequence.Geneticdisorderscanbecausedbyamutationinonegene(monogenicdisorder),bymutationsinmultiplegenes(multifactorialinheritancedisorder),byacombinationofgenemutationsandenvironmentalfactors,orbydamagetochromosomes(changesinthenumberorstructureofentirechromosomes,thestructuresthatcarrygenes). Asweunlockthesecretsofthehumangenome(thecompletesetofhumangenes),wearelearningthatnearlyalldiseaseshaveageneticcomponent.Somediseasesarecausedbymutationsthatareinheritedfromtheparentsandarepresentinanindividualatbirth,likesicklecelldisease.Otherdiseasesarecausedbyacquiredmutationsinageneorgroupofgenesthatoccurduringaperson'slife.Suchmutationsarenotinheritedfromaparent,butoccureitherrandomlyorduetosomeenvironmentalexposure(suchascigarettesmoke).Theseincludemanycancers,aswellassomeformsofneurofibromatosis. Overview AgeneticdisorderisadiseasecausedinwholeorinpartbyachangeintheDNAsequenceawayfromthenormalsequence.Geneticdisorderscanbecausedbyamutationinonegene(monogenicdisorder),bymutationsinmultiplegenes(multifactorialinheritancedisorder),byacombinationofgenemutationsandenvironmentalfactors,orbydamagetochromosomes(changesinthenumberorstructureofentirechromosomes,thestructuresthatcarrygenes). Asweunlockthesecretsofthehumangenome(thecompletesetofhumangenes),wearelearningthatnearlyalldiseaseshaveageneticcomponent.Somediseasesarecausedbymutationsthatareinheritedfromtheparentsandarepresentinanindividualatbirth,likesicklecelldisease.Otherdiseasesarecausedbyacquiredmutationsinageneorgroupofgenesthatoccurduringaperson'slife.Suchmutationsarenotinheritedfromaparent,butoccureitherrandomlyorduetosomeenvironmentalexposure(suchascigarettesmoke).Theseincludemanycancers,aswellassomeformsofneurofibromatosis. ListofGeneticDisorders Thislistofgenetic,orphanandrarediseasesisprovidedforinformationalpurposesonlyandisbynomeanscomprehensive. AboutAchondroplasia AboutAlpha-1AntitrypsinDeficiency AboutAntiphospholipidSyndrome AboutAttentionDeficitHyperactivityDisorder AboutAutism AboutAutosomalDominantPolycysticKidneyDisease AboutBreastCancer AboutCharcot-Marie-ToothDisease AboutColonCancer AboutCriduChatSyndrome AboutCrohn'sDisease AboutCysticFibrosis AboutDercumDisease AboutDownSyndrome AboutDuaneSyndrome AboutDuchenneMuscularDystrophy AboutFactorVLeidenThrombophilia AboutFamilialHypercholesterolemia AboutFamilialMediterraneanFever AboutFragileXSyndrome AboutGaucherDisease AboutHemochromatosis AboutHemophilia AboutHoloprosencephaly AboutHuntington'sDisease AboutInbornErrorsofMetabolism AboutKlinefelterSyndrome AboutMarfanSyndrome AboutMethylmalonicAcidemia AboutMyotonicDystrophy AboutNeurofibromatosis AboutNoonanSyndrome AboutOsteogenesisImperfecta AboutParkinson'sDisease AboutPhenylketonuria AboutPolandAnomaly AboutPorphyria AboutProgeria AboutProstateCancer AboutRetinitisPigmentosa AboutSevereCombinedImmunodeficiency AboutSickleCellDisease AboutSkinCancer AboutSpinalMuscularAtrophy AboutTay-SachsDisease AboutThalassemia AboutTrimethylaminuria AboutTurnerSyndrome AboutVelocardiofacialSyndrome AboutWilsonDisease FeaturedContent Health PolygenicRiskScores ForPatientsandFamilies GeneticandRareDiseasesInformationCenter EDUCATIONALRESOURCES TalkingGlossaryofGeneticTerms CurrentSlide CurrentSlide CurrentSlide Health PolygenicRiskScores ForPatientsandFamilies GeneticandRareDiseasesInformationCenter EDUCATIONALRESOURCES TalkingGlossaryofGeneticTerms CurrentSlide CurrentSlide Health PolygenicRiskScores ForPatientsandFamilies GeneticandRareDiseasesInformationCenter EDUCATIONALRESOURCES TalkingGlossaryofGeneticTerms Lastupdated:May18,2018

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