第一批罕見病目錄

第一批罕見病目錄

TheFirstBatchofRareDiseaseCatalogue1.IntroductionThefirstbatchofrarediseasecatalogueincludes38rarediseases.Thesediseasesarerelativelyrareandhavehighmedicalvalueforresearchandtreatment.Thecatalogueaimstoimprovethediagnosisandtreatmentofrarediseases,promotethedevelopmentofrarediseaseresearch,andprovideareferenceformedicalinstitutionsandpatients.2.RareDiseasesTherarediseasesinthecatalogueinclude21-HydroxylaseDeficiency,Albinism,AlportSyndrome,AmyotrophicLateralSclerosis,AngelmanSyndrome,Beta-ketothiolaseDeficiency,BiotinidaseDeficiency,CardicIonChannelopathies,CarnitineDeficiency,CastlemanDisease,Charcot-Marie-ToothDisease,Citrullinemia,CongenitalAdrenalHypoplasia,CongenitalHyperinsulinemicHypoglycemia,CongenitalMyasthenicSyndrome,andCongenitalMyotoniaSyndrome.3.ConclusionThefirstbatchofrarediseasecatalogueisanimportantstepinthediagnosisandtreatmentofrarediseases.Itprovidesvaluableinformationformedicalinstitutionsandpatients,andpromotesthedevelopmentofrarediseaseresearch.Itisexpectedthatmorerarediseaseswillbeincludedinfuturecatalogues,andthatthediagnosisandtreatmentofrarediseaseswillcontinuetoimprove.HomozygousHypercholesterolemia,alsoknownasfamilialhypercholesterolemia,isageneticdisorderthatcauseshighlevelsofLDLcholesterolintheblood,leadingtoanincreasedriskofheartdisease.ThisconditioniscausedbymutationsintheLDLreceptorgene,whichnormallyremovesLDLcholesterolfromtheblood.Huntington'sdiseaseisahereditaryneurologicaldisorderthataffectsthebraincellsresponsibleformovement,cognition,andbehavior.Symptomsusuallyappearinmidlifeandincludeinvoluntarymovements,cognitivedecline,andpsychiatricsymptoms.Hyperornithinaemia-Hyperammonaemia-HomocitrullinuriaSyndrome,orHHHsyndrome,isararemetabolicdisorderthataffectstheliverandbrain.ItiscausedbymutationsintheSLC25A15gene,whichencodesaproteinthattransportsornithineacrossthemitochondrialmembrane.Hyperphenylalaninemiaisagroupofgeneticdisordersthatcausehighlevelsofphenylalanineintheblood.Thiscanleadtointellectualdisability,seizures,andbehavioralproblemsifleftuntreated.Hypophosphatasiaisararegeneticdisorderthataffectsboneandteethdevelopment.ItiscausedbymutationsintheALPLgene,whichencodesanenzymethatisimportantforthemineralizationofbonesandteeth.HypophosphatemicRicketsisagroupofgeneticdisordersthatcauselowlevelsofphosphateintheblood,leadingtosoftandweakbones.Thisconditioniscausedbymutationsingenesthatregulatephosphatemetabolism.IdiopathicCardiomyopathyisatypeofheartdiseasethataffectstheheartmuscle.Thecauseisunknown,butitisthoughttoberelatedtogenetics,infections,orautoimmunedisorders.IdiopathicHypogonadotropicHypogonadismisararegeneticdisorderthataffectstheproductionofsexhormones.Thiscanleadtodelayedpuberty,infertility,andotherreproductiveproblems.IdiopathicPulmonaryArterialHypertensionisararelungdisorderthatcauseshighbloodpressureinthearteriesthatsupplythelungs.Thecauseisunknown,butitisthoughttoberelatedtogenetics,infections,orautoimmunedisorders.IdiopathicPulmonaryFibrosisisaprogressivelungdiseasethatcausesscarringofthelungtissue.Thecauseisunknown,butitisthoughttoberelatedtogenetics,environmentalfactors,orautoimmunedisorders.IgG4relatedDiseaseisagroupofautoimmunedisordersthataffectvariousorgans,includingthepancreas,kidneys,andsalivaryglands.Thecauseisunknown,butitisthoughttoberelatedtoanabnormalimmuneresponse.InbornErrorsofBileAcidSynthesisareagroupofgeneticdisordersthataffecttheproductionofbileacids,leadingtoliveranddigestiveproblems.IsovalericAcidemiaisararemetabolicdisorderthataffectsthebreakdownofproteinsinthebody.ItiscausedbymutationsintheIVDgene,whichencodesanenzymethatisimportantforthebreakdownoftheaminoacidleucine.KallmannSyndromeisararegeneticdisorderthataffectstheproductionofsexhormonesandthesenseofsmell.Thiscanleadtodelayedpuberty,infertility,andareducedsenseofsmell.LangerhansCellHistiocytosisisararedisorderthataffectstheimmunesystem,causinganovergrowthofLangerhanscellsinvariousorgans.Thiscanleadtoarangeofsymptoms,includingbonepain,skinrashes,andorgandysfunction.LaronSyndromeisararegeneticdisorderthatcausesshortstatureandotherhormonalabnormalities.Itiscausedbymutationsinthegrowthhormonereceptorgene,whichnormallyrespondstogrowthhormoneinthebody.LeberHereditaryOpticNeuropathyisararegeneticdisorderthatcausesprogressivevisionloss.ItiscausedbymutationsinthemitochondrialDNA,whichisimportantforthefunctionofthecellsintheeye.LongChain3-hydroxyacyl-CoADehydrogenaseDeficiencyisararemetabolicdisorderthataffectsthebreakdownoffatsinthebody.ItiscausedbymutationsintheHADHAorHADHBgenes,whichencodeenzymesthatareimportantforthebreakdownoflong-chainfattyacids.Lymphangioleiomyomatosis(LAM)isararelungdiseasethataffectswomen,causingthegrowthofabnormalsmoothmusclecellsinthelungs.Thiscanleadtoshortnessofbreath,coughing,andotherrespiratoryproblems.LysinuricProteinIntoleranceisararemetabolicdisorderthataffectsthebreakdownofproteinsinthebody.ItiscausedbymutationsintheSLC7A7gene,whichencodesaproteinthatisimportantforthetransportofaminoacidsinthebody.LysosomalAcidLipaseDeficiencyisararegeneticdisorderthataffectsthebreakdownoffatsinthebody.ItiscausedbymutationsintheLIPAgene,whichencodesanenzymethatisimportantforthebreakdownofcholesterolandotherfats.MapleSyrupUrineDiseaseisararemetabolicdisorderthataffectsthebreakdownofbranched-chainaminoacidsinthebody.ItiscausedbymutationsintheBCKDHA,BCKDHB,orDBTgenes,whichencodeenzymesthatareimportantforthebreakdownoftheseaminoacids.MarfanSyndromeisageneticdisorderthataffectstheconnectivetissueinthebody,leadingtoarangeofsymptoms,includingtallstature,longlimbs,andheartproblems.ItiscausedbymutationsintheFBN1gene,whichencodesaproteinthatisimportantforthestructureandfunctionofconnectivetissue.McCune-AlbrightSyndromeisararegeneticdisorderthataffectsthebones,skin,andendocrinesystem.ItiscausedbymutationsintheGNASgene,whichencodesaproteinthatisimportantfortheregulationofhormoneproductionandbonedevelopment.進行性家族性肝內膽汁淤積癥、進行性肌營養(yǎng)不良、丙酸血癥、原發(fā)性家族性肌張力障礙、原發(fā)性輕鏈淀粉樣變性、進行性家族性肝內膽汁淤積癥、進行性肌營養(yǎng)不良、丙酸血癥、肺泡蛋白沉積癥、囊性纖維化、視網(wǎng)膜色素變性、視網(wǎng)膜母細胞瘤、重癥先天性粒細胞缺乏癥、嬰兒嚴重肌陣攣性癲癇（Dravet綜合征）、鐮刀型細胞貧血病、Silver-Russell綜合征、谷固醇血癥、脊髓延髓肌萎縮癥（肯尼迪?。⒓顾栊约∥s癥、脊髓小腦性