Genetic disorder - Wikipedia

When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on ... Geneticdisorder FromWikipedia,thefreeencyclopedia Jumptonavigation Jumptosearch Healthproblemcausedbyoneormoreabnormalitiesinthegenome Foranon-technicalintroductiontothetopic,seeIntroductiontogenetics.Foralistofgeneticdisorders,seeListofgeneticdisorders. MedicalconditionGeneticdisorderAboywithDownsyndrome,oneofthemostcommongeneticdisordersSpecialtyMedicalgenetics Diagramfeaturingexamplesofadiseaselocatedoneachchromosome Ageneticdisorderisahealthproblemcausedbyoneormoreabnormalitiesinthegenome.Itcanbecausedbyamutationinasinglegene(monogenic)ormultiplegenes(polygenic)orbyachromosomalabnormality.Althoughpolygenicdisordersarethemostcommon,thetermismostlyusedwhendiscussingdisorderswithasinglegeneticcause,eitherinageneorchromosome.[1][2]Themutationresponsiblecanoccurspontaneouslybeforeembryonicdevelopment(adenovomutation),oritcanbeinheritedfromtwoparentswhoarecarriersofafaultygene(autosomalrecessiveinheritance)orfromaparentwiththedisorder(autosomaldominantinheritance).Whenthegeneticdisorderisinheritedfromoneorbothparents,itisalsoclassifiedasahereditarydisease.SomedisordersarecausedbyamutationontheXchromosomeandhaveX-linkedinheritance.VeryfewdisordersareinheritedontheYchromosomeormitochondrialDNA(duetotheirsize).[3] Therearewellover6,000knowngeneticdisorders,[4]andnewgeneticdisordersareconstantlybeingdescribedinmedicalliterature.[5]Morethan600geneticdisordersaretreatable.[6]Around1in50peopleareaffectedbyaknownsingle-genedisorder,whilearound1in263areaffectedbyachromosomaldisorder.[7]Around65%ofpeoplehavesomekindofhealthproblemasaresultofcongenitalgeneticmutations.[7]Duetothesignificantlylargenumberofgeneticdisorders,approximately1in21peopleareaffectedbyageneticdisorderclassifiedas"rare"(usuallydefinedasaffectinglessthan1in2,000people).Mostgeneticdisordersarerareinthemselves.[5][8] Geneticdisordersarepresentbeforebirth,andsomegeneticdisordersproducebirthdefects,butbirthdefectscanalsobedevelopmentalratherthanhereditary.Theoppositeofahereditarydiseaseisanacquireddisease.Mostcancers,althoughtheyinvolvegeneticmutationstoasmallproportionofcellsinthebody,areacquireddiseases.Somecancersyndromes,however,suchasBRCAmutations,arehereditarygeneticdisorders.[9] Contents 1Single-gene 1.1Autosomaldominant 1.2Autosomalrecessive 1.3X-linkeddominant 1.4X-linkedrecessive 1.5Y-linked 1.6Mitochondrial 2Multifactorialdisorder 3Chromosomaldisorder 4Diagnosis 5Prognosis 6Treatment 7Epidemiology 8History 9Seealso 10References 11Externallinks Single-gene[edit] Prevalenceofsomesingle-genedisorders[10] Disorderprevalence(approximate) Autosomaldominant Familialhypercholesterolemia 1in500[11] NeurofibromatosistypeI 1in2,500[12] Hereditaryspherocytosis 1in5,000 Marfansyndrome 1in4,000[13] Huntington'sdisease 1in15,000[14] Autosomalrecessive Sicklecellanaemia 1in625[15] Cysticfibrosis 1in2,000 Tay–Sachsdisease 1in3,000 Phenylketonuria 1in12,000 Autosomalrecessivepolycystickidneydisease 1in20,000[16] Mucopolysaccharidoses 1in25,000 Lysosomalacidlipasedeficiency 1in40,000 Glycogenstoragediseases 1in50,000 Galactosemia 1in57,000 X-linked Duchennemusculardystrophy 1in5,000 Hemophilia 1in10,000 Valuesareforliveborninfants Asingle-genedisorder(ormonogenicdisorder)istheresultofasinglemutatedgene.Single-genedisorderscanbepassedontosubsequentgenerationsinseveralways.Genomicimprintinganduniparentaldisomy,however,mayaffectinheritancepatterns.Thedivisionsbetweenrecessiveanddominanttypesarenot"hardandfast",althoughthedivisionsbetweenautosomalandX-linkedtypesare(sincethelattertypesaredistinguishedpurelybasedonthechromosomallocationofthegene).Forexample,thecommonformofdwarfism,achondroplasia,istypicallyconsideredadominantdisorder,butchildrenwithtwogenesforachondroplasiahaveasevereandusuallylethalskeletaldisorder,onethatachondroplasicscouldbeconsideredcarriersfor.Sicklecellanemiaisalsoconsideredarecessivecondition,butheterozygouscarriershaveincreasedresistancetomalariainearlychildhood,whichcouldbedescribedasarelateddominantcondition.[17]Whenacouplewhereonepartnerorbotharesufferersorcarriersofasingle-genedisorderwishtohaveachild,theycandosothroughinvitrofertilization,whichenablespreimplantationgeneticdiagnosistooccurtocheckwhethertheembryohasthegeneticdisorder.[18] Mostcongenitalmetabolicdisordersknownasinbornerrorsofmetabolismresultfromsingle-genedefects.Manysuchsingle-genedefectscandecreasethefitnessofaffectedpeopleandarethereforepresentinthepopulationinlowerfrequenciescomparedtowhatwouldbeexpectedbasedonsimpleprobabilisticcalculations.[19] Autosomaldominant[edit] Mainarticle:Autosomaldominant§ Autosomaldominantgene Onlyonemutatedcopyofthegenewillbenecessaryforapersontobeaffectedbyanautosomaldominantdisorder.Eachaffectedpersonusuallyhasoneaffectedparent.[20]: 57 Thechanceachildwillinheritthemutatedgeneis50%.Autosomaldominantconditionssometimeshavereducedpenetrance,whichmeansalthoughonlyonemutatedcopyisneeded,notallindividualswhoinheritthatmutationgoontodevelopthedisease.ExamplesofthistypeofdisorderareHuntington'sdisease,[20]: 58 neurofibromatosistype1,neurofibromatosistype2,Marfansyndrome,hereditarynonpolyposiscolorectalcancer,hereditarymultipleexostoses(ahighlypenetrantautosomaldominantdisorder),tuberoussclerosis,VonWillebranddisease,andacuteintermittentporphyria.Birthdefectsarealsocalledcongenitalanomalies. Autosomalrecessive[edit] Mainarticle:Autosomaldominant§ Autosomalrecessiveallele Twocopiesofthegenemustbemutatedforapersontobeaffectedbyanautosomalrecessivedisorder.Anaffectedpersonusuallyhasunaffectedparentswhoeachcarryasinglecopyofthemutatedgeneandarereferredtoasgeneticcarriers.Eachparentwithadefectivegenenormallydonothavesymptoms.[21]Twounaffectedpeoplewhoeachcarryonecopyofthemutatedgenehavea25%riskwitheachpregnancyofhavingachildaffectedbythedisorder.Examplesofthistypeofdisorderarealbinism,medium-chainacyl-CoAdehydrogenasedeficiency,cysticfibrosis,sicklecelldisease,Tay–Sachsdisease,Niemann–Pickdisease,spinalmuscularatrophy,andRobertssyndrome.Certainotherphenotypes,suchaswetversusdryearwax,arealsodeterminedinanautosomalrecessivefashion.[22][23]Someautosomalrecessivedisordersarecommonbecause,inthepast,carryingoneofthefaultygenesledtoaslightprotectionagainstaninfectiousdiseaseortoxinsuchastuberculosisormalaria.[24]Suchdisordersincludecysticfibrosis,[25]sicklecelldisease,[26]phenylketonuria[27]andthalassaemia.[28] Hereditarydefectsinenzymesaregenerallyinheritedinanautosomalfashionbecausetherearemorenon-XchromosomesthanX-chromosomes,andarecessivefashionbecausetheenzymesfromtheunaffectedgenesaregenerallysufficienttopreventsymptomsincarriers. Ontheotherhand,hereditarydefectsinstructuralproteins(suchasosteogenesisimperfecta,Marfan'ssyndromeandmanyEhlers–Danlossyndromes)aregenerallyautosomaldominant,becauseitisenoughthatsomecomponentsaredefectivetomakethewholestructuredysfunctional.Thisisadominant-negativeprocess,whereinamutatedgeneproductadverselyaffectsthenon-mutatedgeneproductwithinthesamecell. X-linkeddominant[edit] Mainarticle:X-linkeddominant X-linkeddominantdisordersarecausedbymutationsingenesontheXchromosome.Onlyafewdisordershavethisinheritancepattern,withaprimeexamplebeingX-linkedhypophosphatemicrickets.Malesandfemalesarebothaffectedinthesedisorders,withmalestypicallybeingmoreseverelyaffectedthanfemales.SomeX-linkeddominantconditions,suchasRettsyndrome,incontinentiapigmentitype2,andAicardisyndrome,areusuallyfatalinmaleseitherinuteroorshortlyafterbirth,andarethereforepredominantlyseeninfemales.ExceptionstothisfindingareextremelyrarecasesinwhichboyswithKlinefeltersyndrome(44+xxy)alsoinheritanX-linkeddominantconditionandexhibitsymptomsmoresimilartothoseofafemaleintermsofdiseaseseverity.ThechanceofpassingonanX-linkeddominantdisorderdiffersbetweenmenandwomen.ThesonsofamanwithanX-linkeddominantdisorderwillallbeunaffected(sincetheyreceivetheirfather'sYchromosome),buthisdaughterswillallinheritthecondition.AwomanwithanX-linkeddominantdisorderhasa50%chanceofhavinganaffectedfetuswitheachpregnancy,althoughincasessuchasincontinentiapigmenti,onlyfemaleoffspringaregenerallyviable. X-linkedrecessive[edit] Mainarticle:X-linkedrecessiveinheritance X-linkedrecessiveconditionsarealsocausedbymutationsingenesontheXchromosome.Malesaremuchmorefrequentlyaffectedthanfemales,becausetheyonlyhavetheoneXchromosomenecessaryfortheconditiontopresent.Thechanceofpassingonthedisorderdiffersbetweenmenandwomen.ThesonsofamanwithanX-linkedrecessivedisorderwillnotbeaffected(sincetheyreceivetheirfather'sYchromosome),buthisdaughterswillbecarriersofonecopyofthemutatedgene.AwomanwhoisacarrierofanX-linkedrecessivedisorder(XRXr)hasa50%chanceofhavingsonswhoareaffectedanda50%chanceofhavingdaughterswhoarecarriersofonecopyofthemutatedgene.X-linkedrecessiveconditionsincludetheseriousdiseaseshemophiliaA,Duchennemusculardystrophy,andLesch–Nyhansyndrome,aswellascommonandlessseriousconditionssuchasmalepatternbaldnessandred–greencolorblindness.X-linkedrecessiveconditionscansometimesmanifestinfemalesduetoskewedX-inactivationormonosomyX(Turnersyndrome). Y-linked[edit] Mainarticle:Ylinkage Y-linkeddisordersarecausedbymutationsontheYchromosome.Theseconditionsmayonlybetransmittedfromtheheterogameticsex(e.g.malehumans)tooffspringofthesamesex.Moresimply,thismeansthatY-linkeddisordersinhumanscanonlybepassedfrommentotheirsons;femalescanneverbeaffectedbecausetheydonotpossessY-allosomes. Y-linkeddisordersareexceedinglyrarebutthemostwell-knownexamplestypicallycauseinfertility.Reproductioninsuchconditionsisonlypossiblethroughthecircumventionofinfertilitybymedicalintervention. Mitochondrial[edit] Mainarticles:MitochondrialdiseaseandMitochondrialDNA Thistypeofinheritance,alsoknownasmaternalinheritance,istherarestandappliestothe13genesencodedbymitochondrialDNA.Becauseonlyeggcellscontributemitochondriatothedevelopingembryo,onlymothers(whoareaffected)canpassonmitochondrialDNAconditionstotheirchildren.AnexampleofthistypeofdisorderisLeber'shereditaryopticneuropathy. Itisimportanttostressthatthevastmajorityofmitochondrialdiseases(particularlywhensymptomsdevelopinearlylife)areactuallycausedbyanucleargenedefect,asthemitochondriaaremostlydevelopedbynon-mitochondrialDNA.Thesediseasesmostoftenfollowautosomalrecessiveinheritance.[29] Multifactorialdisorder[edit] Geneticdisordersmayalsobecomplex,multifactorial,orpolygenic,meaningtheyarelikelyassociatedwiththeeffectsofmultiplegenesincombinationwithlifestylesandenvironmentalfactors.Multifactorialdisordersincludeheartdiseaseanddiabetes.Althoughcomplexdisordersoftenclusterinfamilies,theydonothaveaclear-cutpatternofinheritance.Thismakesitdifficulttodetermineaperson'sriskofinheritingorpassingonthesedisorders.Complexdisordersarealsodifficulttostudyandtreatbecausethespecificfactorsthatcausemostofthesedisordershavenotyetbeenidentified.Studiesthataimtoidentifythecauseofcomplexdisorderscanuseseveralmethodologicalapproachestodeterminegenotype–phenotypeassociations.Onemethod,thegenotype-firstapproach,startsbyidentifyinggeneticvariantswithinpatientsandthendeterminingtheassociatedclinicalmanifestations.Thisisopposedtothemoretraditionalphenotype-firstapproach,andmayidentifycausalfactorsthathavepreviouslybeenobscuredbyclinicalheterogeneity,penetrance,andexpressivity. Onapedigree,polygenicdiseasesdotendto"runinfamilies",buttheinheritancedoesnotfitsimplepatternsaswithMendeliandiseases.Thisdoesnotmeanthatthegenescannoteventuallybelocatedandstudied.Thereisalsoastrongenvironmentalcomponenttomanyofthem(e.g.,bloodpressure).Otherfactorsinclude: asthma autoimmunediseasessuchasmultiplesclerosis cancers ciliopathies cleftpalate diabetes heartdisease hypertension inflammatoryboweldisease intellectualdisability mooddisorder obesity refractiveerror infertility Chromosomaldisorder[edit] Seealso:Chromosomeabnormality ChromosomesinDownsyndrome,themostcommonhumanconditionduetoaneuploidy.Therearethreechromosomes21(inthelastrow). Achromosomaldisorderisamissing,extra,orirregularportionofchromosomalDNA.Itcanbefromanatypicalnumberofchromosomesorastructuralabnormalityinoneormorechromosomes.Anexampleofthesedisordersistrisomy21(Downsyndrome),inwhichthereisanextracopyofchromosome21. Diagnosis[edit] Duetothewiderangeofgeneticdisordersthatareknown,diagnosisiswidelyvariedanddependentofthedisorder.Mostgeneticdisordersarediagnosedpre-birth,atbirth,orduringearlychildhoodhoweversome,suchasHuntington'sdisease,canescapedetectionuntilthepatientiswellintoadulthood. Thebasicaspectsofageneticdisorderrestsontheinheritanceofgeneticmaterial.Withanindepthfamilyhistory,itispossibletoanticipatepossibledisordersinchildrenwhichdirectmedicalprofessionalstospecifictestsdependingonthedisorderandallowparentsthechancetoprepareforpotentiallifestylechanges,anticipatethepossibilityofstillbirth,orcontemplatetermination.[30]Prenataldiagnosiscandetectthepresenceofcharacteristicabnormalitiesinfetaldevelopmentthroughultrasound,ordetectthepresenceofcharacteristicsubstancesviainvasiveprocedureswhichinvolveinsertingprobesorneedlesintotheuterussuchasinamniocentesis.[31] Prognosis[edit] Notallgeneticdisordersdirectlyresultindeath;however,therearenoknowncuresforgeneticdisorders.Manygeneticdisordersaffectstagesofdevelopment,suchasDownsyndrome,whileothersresultinpurelyphysicalsymptomssuchasmusculardystrophy.Otherdisorders,suchasHuntington'sdisease,shownosignsuntiladulthood.Duringtheactivetimeofageneticdisorder,patientsmostlyrelyonmaintainingorslowingthedegradationofqualityoflifeandmaintainpatientautonomy.Thisincludesphysicaltherapy,painmanagement,andmayincludeaselectionofalternativemedicineprograms. Treatment[edit] Frompersonalgenomicstogenetherapy Seealso:GenetherapyThetreatmentofgeneticdisordersisanongoingbattle,withover1,800genetherapyclinicaltrialshavingbeencompleted,areongoing,orhavebeenapprovedworldwide.[32]Despitethis,mosttreatmentoptionsrevolvearoundtreatingthesymptomsofthedisordersinanattempttoimprovepatientqualityoflife. Genetherapyreferstoaformoftreatmentwhereahealthygeneisintroducedtoapatient.Thisshouldalleviatethedefectcausedbyafaultygeneorslowtheprogressionofthedisease.Amajorobstaclehasbeenthedeliveryofgenestotheappropriatecell,tissue,andorganaffectedbythedisorder.Researchershaveinvestigatedhowtheycanintroduceageneintothepotentiallytrillionsofcellsthatcarrythedefectivecopy.Findingananswertothishasbeenaroadblockbetweenunderstandingthegeneticdisorderandcorrectingthegeneticdisorder.[33] Epidemiology[edit] Around1in50peopleareaffectedbyaknownsingle-genedisorder,whilearound1in263areaffectedbyachromosomaldisorder.[7]Around65%ofpeoplehavesomekindofhealthproblemasaresultofcongenitalgeneticmutations.[7]Duetothesignificantlylargenumberofgeneticdisorders,approximately1in21peopleareaffectedbyageneticdisorderclassifiedas"rare"(usuallydefinedasaffectinglessthan1in2,000people).Mostgeneticdisordersarerareinthemselves.[5][8]Therearewellover6,000knowngeneticdisorders,[4]andnewgeneticdisordersareconstantlybeingdescribedinmedicalliterature.[5] History[edit] TheearliestknowngeneticconditioninahominidwasinthefossilspeciesParanthropusrobustus,withoverathirdofindividualsdisplayingamelogenesisimperfecta.[34] Seealso[edit] FINDbase(theFrequencyofInheritedDisordersdatabase) Geneticepidemiology Listofgeneticdisorders Populationgroupsinbiomedicine Mendelianerror References[edit] ^"GeneticDisorders".learn.genetics.utah.edu.Retrieved2019-07-01. 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^"DiagnosticTests–Amniocentesis".HarvardMedicalSchool.Archivedfromtheoriginalon2008-05-16.Retrieved2008-07-15. ^Ginn,SamanthaL.;Alexander,IanE.;Edelstein,MichaelL.;Abedi,MohammadR.;Wixon,Jo(February2013)."Genetherapyclinicaltrialsworldwideto2012–anupdate".TheJournalofGeneMedicine.15(2):65–77.doi:10.1002/jgm.2698.PMID 23355455.S2CID 37123019. ^Verma,I.M.(22August2013)."GeneTherapyThatWorks".Science.341(6148):853–855.Bibcode:2013Sci...341..853V.doi:10.1126/science.1242551.PMID 23970689.S2CID 206550787. ^"AprobablegeneticoriginforpittingenamelhypoplasiaonthemolarsofParanthropusrobustus".ResearchGate.Retrieved2019-03-09. Externallinks[edit] ClassificationDMeSH:D030342DiseasesDB:28838 PublicHealthGenomicsatCDC OMIM—OnlineMendelianInheritanceinMan,acatalogofhumangenesandgeneticdisorders GeneticandRareDiseasesInformationCenter(GARD)OfficeofRareDiseases(ORD),NationalInstitutesofHealth(NIH) CDC’sNationalCenteronBirthDefectsandDevelopmentalDisabilities GeneticDiseaseInformationfromtheHumanGenomeProject GlobalGenesProject,GeneticandRareDiseasesOrganization ListofGeneticDisorders-Genome.gov vtePersonalgenomicsDatacollection Biobank Biologicaldatabase Fieldconcepts Biologicalspecimen De-identification Humangeneticvariation Geneticlinkage Single-nucleotidepolymorphisms Identitybydescent Geneticdisorder Applications Personalizedmedicine Predictivemedicine Geneticepidemiology Pharmacogenomics Analysistechniques Wholegenomesequencing Genome-wideassociationstudy SNParray Genetictesting Majorprojects HumanGenomeProject InternationalHapMapProject 1000GenomesProject HumanGenomeDiversityProject vteGeneticdisordersrelatingtodeficienciesoftranscriptionfactororcoregulators(1)Basicdomains1.2 Feingoldsyndrome Saethre–Chotzensyndrome 1.3 Tietzsyndrome (2)ZincfingerDNA-bindingdomains2.1 (Intracellularreceptor):Thyroidhormoneresistance Androgeninsensitivitysyndrome PAIS MAIS CAIS Kennedy'sdisease PHA1ADpseudohypoaldosteronism Estrogeninsensitivitysyndrome X-linkedadrenalhypoplasiacongenita MODY1 Familialpartiallipodystrophy3 SF1XYgonadaldysgenesis 2.2 Barakatsyndrome Tricho–rhino–phalangealsyndrome 2.3 Greigcephalopolysyndactylysyndrome/Pallister–Hallsyndrome Denys–Drashsyndrome Duane-radialraysyndrome MODY7 MRX89 Townes–Brockssyndrome Acrocallosalsyndrome Myotonicdystrophy2 2.5 Autoimmunepolyendocrinesyndrometype1 (3)Helix-turn-helixdomains3.1 ARX Ohtaharasyndrome LissencephalyX2 MNX1 Currarinosyndrome HOXD13 SPD1synpolydactyly PDX1 MODY4 LMX1B Nail–patellasyndrome MSX1 Toothandnailsyndrome OFC5 PITX2 Axenfeldsyndrome1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posteriorpolymorphouscornealdystrophy Fuchs'dystrophy3 ZEB2 Mowat–Wilsonsyndrome 3.2 PAX2 Papillorenalsyndrome PAX3 Waardenburgsyndrome1&3 PAX4 MODY9 PAX6 Gillespiesyndrome Colobomaofopticnerve PAX8 Congenitalhypothyroidism2 PAX9 STHAG3 3.3 FOXC1 Axenfeldsyndrome3 Iridogoniodysgenesis,dominanttype FOXC2 Lymphedema–distichiasissyndrome FOXE1 Bamforth–Lazarussyndrome FOXE3 Anteriorsegmentmesenchymaldysgenesis FOXF1 ACD/MPV FOXI1 Enlargedvestibularaqueduct FOXL2 Prematureovarianfailure3 FOXP3 IPEX 3.5 IRF6 VanderWoudesyndrome Poplitealpterygiumsyndrome (4)β-Scaffoldfactorswithminorgroovecontacts4.2 HyperimmunoglobulinEsyndrome 4.3 Holt–Oramsyndrome Li–Fraumenisyndrome Ulnar–mammarysyndrome 4.7 Campomelicdysplasia MODY3 MODY5 SF1 SRYXYgonadaldysgenesis Prematureovarianfailure7 SOX10 Waardenburgsyndrome4c Yemenitedeaf-blindhypopigmentationsyndrome 4.11 Cleidocranialdysostosis (0)Othertranscriptionfactors0.6 Kabukisyndrome Ungrouped TCF4 Pitt–Hopkinssyndrome ZFP57 TNDM1 TP63 Rapp–Hodgkinsyndrome/Hay–Wellssyndrome/Ectrodactyly–ectodermaldysplasia–cleftsyndrome3/Limb–mammarysyndrome/OFC8 TranscriptioncoregulatorsCoactivator: CREBBP Rubinstein–Taybisyndrome Corepressor: HR(Atrichiawithpapularlesions) vteGeneticdisorder,membrane:Solutecarrierdisorders1-10 SLC1A3 Episodicataxia6 SLC2A1 DeVivodisease SLC2A5 Fructosemalabsorption SLC2A10 Arterialtortuositysyndrome SLC3A1 Cystinuria SLC4A1 Hereditaryspherocytosis4/Hereditaryelliptocytosis4 SLC4A11 Congenitalendothelialdystrophytype2 Fuchs'dystrophy4 SLC5A1 Glucose-galactosemalabsorption SLC5A2 Renalglycosuria SLC5A5 Thyroiddyshormonogenesistype1 SLC6A19 Hartnupdisease SLC7A7 Lysinuricproteinintolerance SLC7A9 Cystinuria 11-20 SLC11A1 Crohn'sdisease SLC12A3 Gitelmansyndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudleysyndrome SLC17A5 Salladisease SLC17A8 DFNA25 21-40 SLC26A2 Multipleepiphysealdysplasia4 Achondrogenesistype1B Recessivemultipleepiphysealdysplasia Atelosteogenesis,typeII Diastrophicdysplasia SLC26A4 Pendredsyndrome SLC35C1 CDOG2C SLC39A4 Acrodermatitisenteropathica SLC40A1 Africanironoverload seealsosolutecarrierfamily vteCellsurfacereceptordeficienciesGprotein-coupledreceptor(includinghormone)ClassA TSHR(Congenitalhypothyroidism1) LHCGR(Luteinizinghormoneinsensitivity,Leydigcellhypoplasia,Male-limitedprecociouspuberty) FSHR(Follicle-stimulatinghormoneinsensitivity,XXgonadaldysgenesis) GnRHR(Gonadotropin-releasinghormoneinsensitivity) EDNRB(ABCDsyndrome,Waardenburgsyndrome4a,Hirschsprung'sdisease2) AVPR2(Nephrogenicdiabetesinsipidus1) PTGER2(Aspirin-inducedasthma) ClassB PTH1R(Jansen'smetaphysealchondrodysplasia) ClassC CASR(Familialhypocalciurichypercalcemia) ClassF FZD4(Familialexudativevitreoretinopathy1) Enzyme-linkedreceptor(includinggrowthfactor)RTK ROR2(Robinowsyndrome) FGFR1(Pfeiffersyndrome,KAL2Kallmannsyndrome) FGFR2(Apertsyndrome,Antley–Bixlersyndrome,Pfeiffersyndrome,Crouzonsyndrome,Jackson–Weisssyndrome) FGFR3(Achondroplasia,Hypochondroplasia,Thanatophoricdysplasia,Muenkesyndrome) INSR(Donohuesyndrome Rabson–Mendenhallsyndrome) NTRK1(Congenitalinsensitivitytopainwithanhidrosis) KIT(KITPiebaldism,Gastrointestinalstromaltumor) STPK AMHR2(PersistentMüllerianductsyndromeII) TGFbetareceptors:Endoglin/Alk-1/SMAD4(Hereditaryhemorrhagictelangiectasia) TGFBR1/TGFBR2(Loeys–Dietzsyndrome) GC GUCY2D(Leber'scongenitalamaurosis1) JAK-STAT TypeIcytokinereceptor:GH(Laronsyndrome) CSF2RA(Surfactantmetabolismdysfunction4) MPL(Congenitalamegakaryocyticthrombocytopenia) TNFreceptor TNFRSF1A(TNFreceptorassociatedperiodicsyndrome) TNFRSF13B(SelectiveimmunoglobulinAdeficiency2) TNFRSF5(Hyper-IgMsyndrometype3) TNFRSF13C(CVID4) TNFRSF13B(CVID2) TNFRSF6(Autoimmunelymphoproliferativesyndrome1A) Lipidreceptor LRP:LRP2(Donnai–Barrowsyndrome) LRP4(Cenani–Lenzsyndactylism) LRP5(Worthsyndrome,Familialexudativevitreoretinopathy4,Osteopetrosis1) LDLR(LDLRFamilialhypercholesterolemia) Other/ungrouped Immunoglobulinsuperfamily:AGM3,6 Integrin:LAD1 Glanzmann'sthrombasthenia Junctionalepidermolysisbullosawithpyloricatresia EDAR(EDARhypohidroticectodermaldysplasia) PTCH1(Nevoidbasal-cellcarcinomasyndrome) BMPR1A(BMPR1Ajuvenilepolyposissyndrome) IL2RG(X-linkedseverecombinedimmunodeficiency) Seealso cellsurfacereceptors vteDiseasesofionchannelsCalciumchannelVoltage-gated CACNA1A Familialhemiplegicmigraine1 Episodicataxia2 Spinocerebellarataxiatype-6 CACNA1C Timothysyndrome Brugadasyndrome3 LongQTsyndrome8 CACNA1F Ocularalbinism2 CSNB2A CACNA1S Hypokalemicperiodicparalysis1 Thyrotoxicperiodicparalysis1 CACNB2 Brugadasyndrome4 Ligandgated RYR1 Malignanthyperthermia Centralcoredisease RYR2 CPVT1 ARVD2 SodiumchannelVoltage-gated SCN1A Familialhemiplegicmigraine3 GEFS+2 Febrileseizure3A SCN1B Brugadasyndrome6 GEFS+1 SCN4A Hypokalemicperiodicparalysis2 Hyperkalemicperiodicparalysis Paramyotoniacongenita Potassium-aggravatedmyotonia SCN4B LongQTsyndrome10 SCN5A Brugadasyndrome1 LongQTsyndrome3 SCN9A Erythromelalgia Febrileseizure3B Paroxysmalextremepaindisorder Congenitalinsensitivitytopain Constitutivelyactive SCNN1B/SCNN1G Liddle'ssyndrome SCNN1A/SCNN1B/SCNN1G Pseudohypoaldosteronism1AR PotassiumchannelVoltage-gated KCNA1 Episodicataxia1 KCNA5 Familialatrialfibrillation7 KCNC3 Spinocerebellarataxiatype-13 KCNE1 JervellandLange-Nielsensyndrome LongQTsyndrome5 KCNE2 LongQTsyndrome6 KCNE3 Brugadasyndrome5 KCNH2 ShortQTsyndrome KCNQ1 JervellandLange-Nielsensyndrome Romano–Wardsyndrome ShortQTsyndrome LongQTsyndrome1 Familialatrialfibrillation3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Barttersyndrome2 KCNJ2 Andersen–Tawilsyndrome LongQTsyndrome7 ShortQTsyndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxicperiodicparalysis2 Chloridechannel CFTR Cysticfibrosis Congenitalabsenceofthevasdeferens CLCN1 Thomsendisease Myotoniacongenita CLCN5 Dent'sdisease CLCN7 OsteopetrosisA2,B4 BEST1 Vitelliformmaculardystrophy CLCNKB Barttersyndrome3 TRPchannel TRPC6 FSGS2 TRPML1 MucolipidosistypeIV Connexin GJA1 Oculodentodigitaldysplasia Hallermann–Streiffsyndrome Hypoplasticleftheartsyndrome GJB1 Charcot–Marie–ToothdiseaseX1 GJB2 Keratitis–ichthyosis–deafnesssyndrome Ichthyosishystrix Bart–Pumphreysyndrome Vohwinkelsyndrome) GJB3/GJB4 Erythrokeratodermiavariabilis Progressivesymmetricerythrokeratodermia GJB6 Clouston'shidroticectodermaldysplasia Porin AQP2 Nephrogenicdiabetesinsipidus2 Seealso:ionchannels vteGeneticdisorder,organelle:PeroxisomaldisordersandlysosomalstructuraldisordersPeroxisomebiogenesisdisorder Zellwegersyndrome Neonataladrenoleukodystrophy InfantileRefsumdisease AdultRefsumdisease-2 RCP1 Enzyme-related Acatalasia RCP2&3 Mevalonatekinasedeficiency D-bifunctionalproteindeficiency AdultRefsumdisease-1 Transporter-related X-linkedadrenoleukodystrophy Lysosomal Danondisease Seealso:proteins,intermediates vteDiseasesofciliaStructural receptor:Polycystickidneydisease cargo:Asphyxiatingthoracicdysplasia basalbody:Bardet–Biedlsyndrome mitoticspindle:Meckelsyndrome centrosome:Joubertsyndrome Signaling Nephronophthisis Other/ungrouped Alströmsyndrome Primaryciliarydyskinesia Senior–Løkensyndrome Orofaciodigitalsyndrome1 McKusick–Kaufmansyndrome Autosomalrecessivepolycystickidney Seealso:ciliaryproteins vteDiseasesofcollagen,lamininandotherscleroproteinsCollagendiseaseCOL1: Osteogenesisimperfecta Ehlers–Danlossyndrome,types1,2,7 COL2: Hypochondrogenesis Achondrogenesistype2 Sticklersyndrome Marshallsyndrome Spondyloepiphysealdysplasiacongenita Spondyloepimetaphysealdysplasia,Strudwicktype Kniestdysplasia(seealsoC2/11) COL3: Ehlers–Danlossyndrome,types3&4 Sack–Barabassyndrome COL4: Alportsyndrome COL5: Ehlers–Danlossyndrome,types1&2 COL6: Bethlemmyopathy Ullrichcongenitalmusculardystrophy COL7: Epidermolysisbullosadystrophica Recessivedystrophicepidermolysisbullosa Bartsyndrome Transientbullousdermolysisofthenewborn COL8: Fuchs'dystrophy1 COL9: Multipleepiphysealdysplasia2,3,6 COL10: Schmidmetaphysealchondrodysplasia COL11: Weissenbacher–Zweymüllersyndrome Otospondylomegaepiphysealdysplasia(seealsoC2/11) COL17: Bullouspemphigoid COL18: Knoblochsyndrome Laminin Junctionalepidermolysisbullosa Laryngoonychocutaneoussyndrome Other Congenitalstromalcornealdystrophy Rainesyndrome Urbach–Wiethedisease TECTA DFNA8/12,DFNB21 seealsofibrousproteins Authoritycontrol:Nationallibraries Spain France(data) Germany Israel UnitedStates Retrievedfrom"https://en.wikipedia.org/w/index.php?title=Genetic_disorder&oldid=1072461465" Categories:GeneticdiseasesanddisordersHiddencategories:CS1maint:url-statusCS1maint:usesauthorsparameterArticleswithshortdescriptionShortdescriptionisdifferentfromWikidataArticleswithBNEidentifiersArticleswithBNFidentifiersArticleswithGNDidentifiersArticleswithJ9UidentifiersArticleswithLCCNidentifiers Navigationmenu Personaltools NotloggedinTalkContributionsCreateaccountLogin Namespaces ArticleTalk English expanded collapsed Views ReadEditViewhistory More expanded collapsed Search Navigation 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