21 Common Genetic Disorders: Types, Symptoms, Causes ...

A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major ... Definition Whatisageneticdisease? Types Whatarethefourtypesofgeneticdisorders(inherited)? SingleInheritance 7singlegeneinheritancedisorders MultifactorialInheritance 7commonmultifactorialgeneticinheritancedisorders ChromosomeAbnormalities 4chromosomalabnormalities MitocondrialInheritance 3mitochondrialgeneticinheritancedisorders HumanGenome Whatisthehumangenome? Center GeneticDiseases(DisorderDefinition,Types,andExamples)Center Comments PatientComments:GeneticDisease-Symptoms PatientComments:GeneticDisease-Screening PatientComments:GeneticDisease-PersonalExperience Whatisageneticdisease? ReadersComments5 ShareYourStory Abnormalitiesinanindividual'sgeneticmakeupcausegeneticdisease.Ageneticdiseaseisanydiseasecausedbyanabnormalityinthegeneticmakeupofanindividual.Thegeneticabnormalitycanrangefromminusculetomajor--fromadiscretemutationinasinglebaseintheDNAofasinglegenetoagrosschromosomalabnormalityinvolvingtheadditionorsubtractionofanentirechromosomeorsetofchromosomes.Somepeopleinheritgeneticdisordersfromtheparents,whileacquiredchangesormutationsinapreexistinggeneorgroupofgenescauseothergeneticdiseases.Geneticmutationscanoccureitherrandomlyorduetosomeenvironmentalexposure.Whatarethefourtypesofgeneticdisorders(inherited)? Thereareanumberofdifferenttypesofgeneticdisorders(inherited)andinclude:SinglegeneinheritanceMultifactorialinheritanceChromosomeabnormalitiesMitochondrialinheritance 6SymptomsandSignsofDownSyndrome ThebabywithDownsyndromehasahallmarkappearance.However,everyaspect oftheappearancedoesnotneedtobepresentasthephenotype,thewaythe genesmakethechildlook,canbemarkedlydifferentforeachpatient. CommonDownsyndromesymptomsare: asmallheadandshortneck, flatface,and upwardslantingeyes,earsareflatandpositioned lowerthan"normal," thetongueprotrudesandseemstobetoolargeforthe mouth, handstendtobewide, shortfingersandthereisjustasingle flexioncreaseinthepalm,and jointstendtobemoreflexibleandmuscles maylacktone. ClickformoreinformationaboutDownsyndrome» 7singlegeneinheritancedisorders SinglegeneinheritanceisalsocalledMendelianormonogeneticinheritance.ChangesormutationsthatoccurintheDNAsequenceofasinglegenecausethistypeofinheritance.Therearethousandsofknownsingle-genedisorders.Thesedisordersareknownasmonogeneticdisorders(disordersofasinglegene).Single-genedisordershavedifferentpatternsofgeneticinheritance,includingautosomaldominantinheritance,inwhichonlyonecopyofadefectivegene(fromeitherparent)isnecessarytocausethecondition;autosomalrecessiveinheritance,inwhichtwocopiesofadefectivegene(onefromeachparent)arenecessarytocausethecondition;andX-linkedinheritance,inwhichthedefectivegeneispresentonthefemale,orX-chromosome.X-linkedinheritancemaybedominantorrecessive.Someexamplesofsingle-genedisordersincludecysticfibrosis,alpha-andbeta-thalassemias,sicklecellanemia(sicklecelldisease),Marfansyndrome,fragileXsyndrome,Huntington'sdisease,andhemochromatosis.7commonmultifactorialgeneticinheritancedisorders ReadersComments8 ShareYourStory Multifactorialinheritanceisalsocalledcomplexorpolygenicinheritance.Multifactorialinheritancedisordersarecausedbyacombinationofenvironmentalfactorsandmutationsinmultiplegenes.Forexample,differentgenesthatinfluencebreastcancersusceptibilityhavebeenfoundonchromosomes6,11,13,14,15,17,and22.Somecommonchronicdiseasesaremultifactorialdisorders.Examplesofmultifactorialinheritanceincludeheartdisease,highbloodpressure,Alzheimer'sdisease,arthritis,diabetes,cancer,andobesity.Multifactorialinheritancealsoisassociatedwithheritabletraitssuchasfingerprintpatterns,height,eyecolor,andskincolor. SLIDESHOW BreastCancerAwareness:Symptoms,Diagnosis,andTreatment SeeSlideshow 4chromosomalabnormalities Chromosomes,distinctstructuresmadeupofDNAandprotein,arelocatedinthenucleusofeachcell.Becausechromosomesarethecarriersofthegeneticmaterial,abnormalitiesinchromosomenumberorstructurecanresultindisease.Chromosomalabnormalitiestypicallyoccurduetoaproblemwithcelldivision.Forexample,Downsyndrome(sometimesreferredtoas"Down'ssyndrome")ortrisomy21isacommongeneticdisorderthatoccurswhenapersonhasthreecopiesofchromosome21.Therearemanyotherchromosomalabnormalitiesincluding:Turnersyndrome(45,X0),Klinefeltersyndrome(47,XXY),andCriduchatsyndrome,orthe"cryofthecat"syndrome(46,XXorXY,5p-).Diseasesmayalsooccurbecauseofchromosomaltranslocationinwhichportionsoftwochromosomesareexchanged.3mitochondrialgeneticinheritancedisorders Thistypeofgeneticdisorderiscausedbymutationsinthenon-nuclearDNAofmitochondria.Mitochondriaaresmallroundorrod-likeorganellesthatareinvolvedincellularrespirationandfoundinthecytoplasmofplantandanimalcells.Eachmitochondrionmaycontain5to10circularpiecesofDNA.Sinceeggcells,butnotspermcells,keeptheirmitochondriaduringfertilization,mitochondrialDNAisalwaysinheritedfromthefemaleparent.ExamplesofmitochondrialdiseaseincludeLeber'shereditaryopticatrophy(LHON),aneyedisease;myoclonicepilepsywithraggedredfibers(MERRF);andmitochondrialencephalopathy,lacticacidosis,andstroke-likeepisodes(MELAS),arareformofdementia. LatestMedicineNetNews WagesLagforU.S.HealthCareWorkers BidentoProposeOverhaulofU.S.NursingHomes GeneTestsOftenRevealUnknownRelatives ResearchersMapOutEnormousHumanFamilyTree ClimateChangeBringingCatastrophicWildfires DailyHealthNews HealthyMouth,HealthyHeart NewCOVIDResponseStrategy KetoDietHelpsMSPatients NerveDamageCausesLongCOVID BloodTestMarkerAssessHeartRisks MoreHealthNews» TrendingonMedicineNet Triple-NegativeBreastCancer CausesofStoolColorChanges GoodHeartRateByAge LaminectomyRecoveryTime NormalBloodPressureByAge Whatisthehumangenome? ReadersComments6 ShareYourStory Thehumangenomeistheentire"treasuryofhumaninheritance."ThesequenceofthehumangenomeobtainedbytheHumanGenomeProject,completedinApril2003,providesthefirstholisticviewofourgeneticheritage.The46humanchromosomes(22pairsofautosomalchromosomesand2sexchromosomes)betweenthemhousealmost3billionbasepairsofDNAthatcontainsabout20,500protein-codinggenes.Thecodingregionsmakeuplessthan5%ofthegenome(thefunctionofalltheremainingDNAisnotclear)andsomechromosomeshaveahigherdensityofgenesthanothers.Mostgeneticdiseasesarethedirectresultofamutationinonegene.However,oneofthemostdifficultproblemsaheadistofurtherelucidatehowgenescontributetodiseasesthathaveacomplexpatternofinheritance,suchasinthecasesofdiabetes,asthma,cancer,andmentalillness.Inallthesecases,noonegenehastheyes/nopowertosaywhetherapersonwilldevelopthediseaseornot.Itislikelythatmorethanonemutationisrequiredbeforethediseaseismanifest,andanumberofgenesmayeachmakeasubtlecontributiontoaperson'ssusceptibilitytoadisease;genesmayalsoaffecthowapersonreactstoenvironmentalfactors. HealthSolutionsFromOurSponsors PenisCurvedWhenErect CouldIhaveCAD? TreatBentFingers TreatHR+,HER2-MBC TiredofDandruff? LifewithCancer References UnitedStates.CDC."FactsAboutDownSyndrome.". UnitedStates.NationalHeart,Lung,andBloodInstitute."CysticFibrosis.". UnitedStates.NationalHumanGenomeResearchInstitute."FrequentlyAskedQuestionsAboutGeneticDisorders.". CompleteList TopGeneticDiseaseRelatedArticles Alzheimer'sQuizTaketheAlzheimer'sQuiztodiscoversomeofthemysteriesbehindthiscognitivedisorder.Learncauses,symptoms,treatments,diagnosis,andlittle-knownfactsaboutAlzheimer'sdisease(AD)andthebraindisordersitcanmimic. BasalCellNevusSyndromePictureNumerousbasalcellepitheliomasontheneckofachild.SeeapictureofBasalCellNevusSyndromeandlearnmoreaboutthehealthtopic. WhatIsBipolarDisorder?Symptoms,ManicEpisodes,TestingBipolardisorder(formerly"manicdepression")causesextrememoodshiftsandmanicepisodes.Learnaboutbipolar1,bipolar2,andthemeaningofbipolardisorder.Ourexpertsdefinebipolardisorder,discussbipolarsymptoms,anddescribebipolarmedicationsthatcanhelp. BloodDisordersQuizExactlywhatissicklecellanemia?LearnaboutsicklecellandotherdiseasesbytestingyourIQwiththeBloodandBleedingDisordersQuiz. YoungWomen&BreastCancerIsbreastcancergenetic?ShouldIgettestedfortheBRCAgene?Whateveryyoungwomenshouldknowaboutbreastcancer.Discoverthesignsandsymptomsofbreastcancerandothercrucialbreastcancerfacts. TheStagesofDementia:Alzheimer'sDiseaseandAgingBrainsWhatarethesymptomsofdementia?Whatcausesdementia?Dementiaincludesmanydisorders,suchasLewyBodydementia,Alzheimer'sdisease,vasculardementia,andmore.Learnthewarningsignsofdementia. LearntoSpotDepression:Symptoms,WarningSigns,MedicationKnowwhenyouorsomeoneelseisdepressed.Getinformationondepressionsymptoms,signs,tests,andtreatmentsformanytypesofdepressionchronicdepressionandpostpartumdepression. DepressionQuizManypeopledonotrecognizethesymptomsandwarningsignsofdepressionanddepressivedisordersinchildrenandadults.Withproperdiagnosis,treatmentsandmedicationsareavailable.Takethisquiztolearnmoreaboutrecoveryfromdepression. Diabetes(Type1andType2)Diabetesisachronicconditioncharacterizedbyhighlevelsofsugar(glucose)intheblood.Thetwotypesofdiabetesarereferredtoastype1(insulindependent)andtype2(non-insulindependent).Symptomsofdiabetesincludeincreasedurineoutput,thirst,hunger,andfatigue.Treatmentofdiabetesdependsonthetype. Hemoglobin:Normal,High,LowLevelsandCausesHemoglobinistheoxygen-carryingproteinmoleculeintheblood,specificallyintheredbloodcells.Highhemoglobincountmaybecausedbydehydration,smoking,emphysema,tumors,orabuseofEpogen.Lowlevelsofhemoglobinmaybecausedbyanemia,bloodloss,nutritionaldeficiency,bonemarrowproblems,chemotherapy,kidneyfailure,orsicklecelldisease. Homocysteine(NormalandElevatedLevelsBloodTest)Elevatedhomocysteinelevelsinthebloodcalledhyperhomocysteinemia,isasignthatthebody isn'tproducingenoughoftheaminoacidhomocysteine.isarareandseriousconditionthatmaybeinherited(genetic).Peoplewithhomocystinuriadieatanearlyage.Symptomsofhyperhomocysteinemiaincludedevelopmentaldelays,osteoporosis,bloodclots,heartattack,heartdisease,stroke,andvisualabnormalities.Thereareothercausesofhyperhomocysteinemia,forexample,alcoholism.SupplementingthedietwithfolicacidandpossiblyvitaminsB6andB12supplementscanlowerhomocysteinelevels.CurrentlythereisnodirectproofthattakingfolicacidandBvitaminslowerhomocysteinelevelsandpreventheartattacksandstrokes.Talktoyourdoctorifyoufeelyouneedtohaveyourhomocysteinebloodlevelschecked. Liver(AnatomyandFunction)Theliveristhelargestglandandorganinthebody.Thereareavarietyofliverdiseasescausedbyliverinflammation,scarringoftheliver,infectionoftheliver,gallstones,cancer,toxins,geneticdiseases,andbloodflowproblems.Symptomsofliverdiseasegenerallydonotoccuruntiltheliverdiseaseisadvanced.Somesymptomsofliverdiseaseincludejaundice,nauseaandvomiting,easybruising,bleedingexcessively,fatigue,weakness,weightloss,shortnessofbreath,legswelling,impotence,andconfusion.Treatmentofdiseasesoftheliverdependsonthecause. MolesMolesaresmallskingrowthsthatmayappearflatorraisedandareoftentan,brown,black,reddishbrown,orskincolored.Theyaretypicallyaboutthesizeofapencileraser.Therearethreetypesofmoles.Monthlyskinself-examsareessentialintheearlydetectionofabnormalmolesandmelanomas. Naturevs.NurtureTheory(Genesvs.Environment)Inthenaturevs.nurturedebate,"nature"representsourgeneticmakeup. Thesearethegenesyouhaveinheritedfromyourbiologicalfamily,andthatmay affectyourphysicalandmentalhealth,forexample,intelligence,disease,and psychologicalhealth.While"nurture"representshowourenvironmentaffectsour intelligence,traits,personality,andmentalandphysicalhealth.Studieshaveshownthataperson'senvironmentcanalterhisorhergenes,and lowertheirriskofdevelopingcertaininheriteddiseases,conditions,and mentalillnessesthatruninhisorherfamily. Researchersanddoctorshavefoundthatparticularphysicaltraitslikeeyeand skincolor,anddiseaseslikeHuntington'schoreaaretheresultofgenetic inheritance(inheritedfromafamilymember).However,patternsof thinkingandbehaviorcanbeattributedtobothnatureandnurture(yourgenes andyourenvironment).Moreover,researcherswhostudythebrainhavefound overwhelmingevidencethataperson'sgeneticfactorsandhisorherexperiences guideandsupportbraindevelopment.Thehumanbrainproducesnewnervecells (neurons)intoadulthood,andthesenervecellscanchangethestrengthoftheir connectionsthroughoutlife,whichcanaffectintelligenceandotherfactors. ParathyroidectomySurgeryParathyroidectomyistheremovalofoneormoreoftheparathyroidglandstotreathyperparathyroidism.Risksofparathyroidectomyinclude: paralysisofthevocalcords, difficultyswallowingthinliquids, difficultybreathing, anddrugreactions. Possiblecomplicationsofparathyroidectomyinclude: damagetotherecurrentlaryngealnerve, bleedingorhematoma, problemsmaintainingcalciumlevelsintheblood, needforfurtherandmoreaggressivesurgery, needforalimitedortotalthyroidectomy, prolongedpain, impairedhealing, andrecurrenceofthetumor. PCR(PolymeraseChainReaction)PCR(polymerasechainreaction)isamethodtoanalyzeashortsequenceDNAorRNA.PCR(polymerasechainreaction)hasmanyuses,forexample,itisusedtodiagnosegeneticdiseases,establishpaternityorbiologicalrelationships,DNAfingerprinting,DNAforensics,andfindingbacteriaandviruses. HighRedBloodCellCount(Polycythemia)Polycythemia(elevatedredbloodcellcount)isarareblooddiseaseinwhich thebodyproducestoomanyredbloodcells.Causesofpolycythemiaareeitherprimary(acquired orgeneticmutations)orsecondary(diseases,conditions,highaltitude). Triglycerides(TestsandLoweringYourTriglycerideLevels)Triglyceridesareacommonformoffatthatwedigest.Triglyceridesarethemainingredientinanimalfatsandvegetableoils.Elevatedlevelsoftriglyceridesareariskfactorforheartdisease,heartattack,stroke,fattyliverdisease,andpancreatitis.Elevatedlevelsoftriglyceridesarealsoassociatedwithdiseaseslikediabetes,kidneydisease,andmedications(forexample,diuretics,birthcontrolpills,andbetablockers).Dietarychanges,andmedicationifnecessarycanhelplowertriglyceridebloodlevels.