Genetic Disease: 4 Types and List of 39 - eMedicineHealth

List of Examples of Common Single-Inheritance Genetic Diseases · Cystic fibrosis · Sickle-cell anemia · Marfan syndrome · Duchenne muscular dystrophy · Huntington ... children'shealthcenterTopicGuide TypesandListofExamplesofGenetic(Hereditary)Diseases MedicalAuthor: CharlesPatrickDavis,MD,PhD MedicalEditor: MelissaConradStöppler,MD WhatIs? WhatIstheDefinitionofGeneticDisease(Disorder)? 4Types WhatAretheTypesofGeneticDisease? 21SingleInheritance ListofExamplesofCommonSingle-InheritanceGeneticDiseases Multifactorial ListofExamplesofMultifactorialGeneticInheritanceDisorders 9ChromosomeAbnormalities ListofExamplesofChromosomeAbnormalitiesGeneticDiseases 9Mitochondrial ListofExamplesofMitochondrialGeneticInheritanceDisorders Guide Genetic(Hereditary)Diseases:TypesandListExamplesTopicGuide WhatIstheDefinitionofGeneticDisease(Disorder)? ShareYourStory Thereare4typesofgeneticdiseases.Ageneticdiseaseordisorderisanydiseasecausedbyaproblemwithaperson’sgenes.Aperson’sgenesarecontainedwithintheirgenome.Thehumangenomeismadeupofthe46humanchromosomes(22pairsofautosomalchromosomesand2sexchromosomes).These46chromosomestogethercontainover3billionbasepairsofDNAthatcontainabout20,500protein-codinggenes.Theactualprotein-codinggenesaccountforlessthan5%ofthehumangenome.Theprecisefunctionofthe95%ofremainingDNAisunclear.SomeresearchersincludemitochondrialDNAaspartofthehumangenome.Thereareabout6000knowngeneticdisorders;manyarefatalorcausesevereproblemswhileothersmaynotbutmayaddtoproblemsthataretriggeredbynon-genetic(forexample,environmentalconditions).GeneticdisorderscanrangefromadefectinasinglebasemutationintheDNAofonegenetochromosomalabnormalitiesthatinvolvedeletionoradditionofentirechromosomesorsetsofchromosomes.Geneticdisorderscanbeinherited,orpassedfromparentstooffspring,oracquiredduetochangesinanindividual’sDNAthatoccurduringtheirlifetime.Radiationandcertaincancer-causingchemicalsareexamplesofcausesofacquiredchangestoDNA.Thisshortarticleisdesignedtogivethereaderalistofgroupsofdiseasesthatsharegeneticproblemsthataresimilarincause.Thelistshaveexamplesofgeneticdiseasetypesandarenotallinclusive.WhatAretheTypesofGeneticDisease? ShareYourStory Therearemanytypesofgeneticdiseases.Fourofthemaintypesare:Single-geneinheritancediseasesMultifactorialgeneticinheritancedisordersChromosomeabnormalitiesMitochondrialgeneticinheritancedisorders ListofExamplesofCommonSingle-InheritanceGeneticDiseases ShareYourStory Singlegeneinheritancediseasesarediseasesthatoccurbecauseonedefectivegeneispresent.Theyareknownasmonogeneticdisorders.Therearethousandsofknownsinglegeneinheritancediseases,andtheymaybeinheritedindifferentways.Autosomaldominantinheritancemeansthatonlyonecopyofthedefectivegene(fromeitherparent)mustbepresenttocausethecondition.Autosomalrecessivediseasesrequirethatanaffectedpersonreceiveadefectivecopyofthegenefromeachparent.X-linkeddisordersrefertodiseasesforwhichthedefectivegeneispresentonthefemale(X)chromosome.Examplesofsinglegeneinheritancedisordersinclude:CysticfibrosisSickle-cellanemiaMarfansyndromeDuchennemusculardystrophyHuntingtondiseasePolycystickidneydiseasetypes1and2Tay-SachsdiseasePhenylketonuriaMaplesyrupurinediseaseNeurofibromatosistype1Alpha-1antitrypsindeficiencyGalactosemiaFamilialhypercholesterolemiaRettsyndromeHemophiliaFanconianemiaKartagenersyndromeXerodermapigmentosumHereditaryspherocytosisTuberoussclerosisVonHippel-LindausyndromeListofExamplesofMultifactorialGeneticInheritanceDisorders Ageneticdiseaseordisorderisanydiseasecausedbyaproblemwithaperson’sgenes.Aperson’sgenesarecontainedwithintheirgenome.Thehumangenomeismadeupofthe46humanchromosomes(22pairsofautosomalchromosomesand2sexchromosomes).These46chromosomestogethercontainover3billionbasepairsofDNAthatcontainabout20,500protein-codinggenes.Theactualprotein-codinggenesaccountforlessthan5%ofthehumangenome.Theprecisefunctionofthe95%ofremainingDNAisunclear.SomeresearchersincludemitochondrialDNAaspartofthehumangenome.Thereareabout6000knowngeneticdisorders;manyarefatalorcausesevereproblemswhileothersmaynotbutmayaddtoproblemsthataretriggeredbynon-genetic(forexample,environmentalconditions).GeneticdisorderscanrangefromadefectinasinglebasemutationintheDNAofonegenetochromosomalabnormalitiesthatinvolvedeletionoradditionofentirechromosomesorsetsofchromosomes.Geneticdisorderscanbeinherited,orpassedfromparentstooffspring,oracquiredduetochangesinanindividual’sDNAthatoccurduringtheirlifetime.Radiationandcertaincancer-causingchemicalsareexamplesofcausesofacquiredchangestoDNA.Thisshortarticleisdesignedtogivethereaderalistofgroupsofdiseasesthatsharegeneticproblemsthataresimilarincause.Thelistshaveexamplesofgeneticdiseasetypesandarenotallinclusive. ListofExamplesofChromosomeAbnormalitiesGeneticDiseases ShareYourStory Chromosomeabnormalitiesusuallyresultfromaproblemwithcelldivisionandarisebecauseofduplicationsorabsencesofentirechromosomesorpiecesofchromosomes.Examplesofchromosomeabnormalitydisordersinclude:DownsyndromeCri-du-chatsyndromeKlinefeltersyndromePatausyndrome(trisomy13)Edwardssyndrome(trisomy18)Turnersyndrome22q11.2deletionsyndromeRingchromosome14syndromePrader-WillisyndromeListofExamplesofMitochondrialGeneticInheritanceDisorders MitochondrialgeneticinheritancedisordersarecausedbymutationsintheDNAofmitochondria,smallparticleswithincells.ThisDNAisuniqueinthatitisnotlocatedonthechromosomesinthecellnucleus.MitochondrialDNAisalwaysinheritedfromthefemaleparentsinceeggcells(unlikespermcells)keeptheirmitochondrialDNAduringtheprocessoffertilization.Examplesofmitochondrialgeneticinheritancedisordersinclude:HereditaryopticatrophyBarthsyndromeCo-enzymeQ10deficiencyMyoclonicepilepsywithraggedredfibers(MERRF)MELASsyndrome,arareformofdementiaKearns-SayresyndromePearsonsyndromeNeuropathy,ataxia,retinitispigmentosa(NARP)Leigh’sdisease BadBugsandTheirBites SexDriveKillers CancerousTumors MultipleSclerosis AdultSkinProblems HabitsThatWreckYourTeeth ManageDiabetesin10Minutes ErectileDysfunction Type2DiabetesWarningSigns HealthBenefitsofSex Scalp,HairandNails ADHDSymptomsinChildren? HealthSolutionsFromOurSponsors PenisCurvedWhenErect CouldIhaveCAD? TreatBentFingers TreatHR+,HER2-MBC TiredofDandruff? LifewithCancer From Parenting&Children'sHealthResources MustAllWisdomTeethComeOut? FeaturedCenters GoodandBadFoodsforPsoriasisVideo:GettingPersonalonLifeWithMS HealthSolutionsFromOurSponsors Shot-FreeMSTreatment YourChildandCOVID-19 9EarlyWarningSignsandSymptomsofAlzheimer'sDisease Alzheimer'searlywarningsignsandsymptomsinclude: Memoryloss Languageproblems Difficultyinperformingfamiliartasks Poorjudgment Misplacingitems Disorientation Rapidmoodswings Personalitychanges Increasedapathyorpassiveness CallyourdoctorifsomeonehasAlzheimer'sdiseasesignsandsymptoms. ReadmoreabouttheearlywarningsignsandsymptomsofAlzheimer'sdisease» References USNIH.GeneticandRareDiseasesInfoCenter. PatientComments&Reviews GeneticDiseases-Experience Pleaseshareyourexperiencewithgeneticdiseases.Yourinformationmayhelpotherswithasimilarcondition. Post GeneticDiseases-Types Whattypeofgeneticdiseaseordisorderdoyouorsomeoneyouknowhave?Yourinformationmayhelpothersfacingatypeofgeneticcondition. Post GeneticDiseases-Examples Whichgeneticdiseasedoyouorsomeoneyouknowhave?Sharingmayhelpothers. Post GeneticDiseases-ChromosomeAbnormalities Whichgeneticdiseasewithchromosomeabnormalitiesdoyouorsomeoneyouknowhave?Yourfeedbackmayhelpotherswiththediseaseordisorder. Post