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AlagillesyndromeGeneticsHomeReference

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Alagillesyndrome
Onthispage: Description Geneticchanges Inheritance Diagnosis
Additionalinformation Othernames Glossarydefinitions

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ReviewedDecember2014

WhatisAlagillesyndrome?

MedlinePlus
Healthinformation

Alagillesyndromeisageneticdisorderthatcanaffecttheliver,heart,and
otherpartsofthebody.

GeneticandRare
DiseasesInformation
Center
Informationabout
geneticconditionsand
rarediseases

OneofthemajorfeaturesofAlagillesyndromeisliverdamagecausedby
abnormalitiesinthebileducts.Theseductscarrybile(whichhelpsto
digestfats)fromthelivertothegallbladderandsmallintestine.InAlagille
syndrome,thebileductsmaybenarrow,malformed,andreducedin
number(bileductpaucity).Asaresult,bilebuildsupintheliverand
causesscarringthatpreventstheliverfromworkingproperlytoeliminate
wastesfromthebloodstream.Signsandsymptomsarisingfromliver
damageinAlagillesyndromemayincludeayellowishtingeintheskin
andthewhitesoftheeyes(jaundice),itchyskin,anddepositsof
cholesterolintheskin(xanthomas).

AdditionalNIH
Resources
NationalInstitutesof
Health
Educationalresources
Informationpages
Patientsupport
Forpatientsand
families
GeneReviews
Clinicalsummary
GeneticTesting
Registry
Genetictesting
ClinicalTrials.gov
Researchstudies
PubMed
Recentliterature
OMIM
Geneticdisorder
catalog

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Alagillesyndromeisalsoassociatedwithseveralheartproblems,
includingimpairedbloodflowfromtheheartintothelungs(pulmonic
stenosis).Pulmonicstenosismayoccuralongwithaholebetweenthetwo
lowerchambersoftheheart(ventricularseptaldefect)andotherheart
abnormalities.Thiscombinationofheartdefectsiscalledtetralogyof
Fallot.
PeoplewithAlagillesyndromemayhavedistinctivefacialfeatures
includingabroad,prominentforeheaddeepseteyesandasmall,pointed
chin.Thedisordermayalsoaffectthebloodvesselswithinthebrainand
spinalcord(centralnervoussystem)andthekidneys.Affectedindividuals
mayhaveanunusualbutterflyshapeofthebonesofthespinalcolumn
(vertebrae)thatcanbeseeninanxray.
ProblemsassociatedwithAlagillesyndromegenerallybecomeevidentin
infancyorearlychildhood.Theseverityofthedisordervariesamong
affectedindividuals,evenwithinthesamefamily.Symptomsrangefrom
somildastogounnoticedtosevereheartand/orliverdiseaserequiring
transplantation.
SomepeoplewithAlagillesyndromemayhaveisolatedsignsofthe
disorder,suchasaheartdefectliketetralogyofFallot,oracharacteristic
facialappearance.Theseindividualsdonothaveliverdiseaseorother
featurestypicalofthedisorder.

HowcommonisAlagillesyndrome?
http://ghr.nlm.nih.gov/condition/alagillesyndrome

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TheestimatedprevalenceofAlagillesyndromeis1in70,000newborns.
Thisfigureisbasedondiagnosesofliverdiseaseininfants,andmaybean
underestimationbecausesomepeoplewithAlagillesyndromedonot
developliverdiseaseduringinfancy.

WhatarethegeneticchangesrelatedtoAlagillesyndrome?
Inmorethan90percentofcases,mutationsintheJAG1genecause
Alagillesyndrome.Another7percentofindividualswithAlagille
syndromehavesmalldeletionsofgeneticmaterialonchromosome20that
includetheJAG1gene.AfewpeoplewithAlagillesyndromehave
mutationsinadifferentgene,calledNOTCH2.TheJAG1andNOTCH2
genesprovideinstructionsformakingproteinsthatfittogethertotrigger
interactionscalledNotchsignalingbetweenneighboringcellsduring
embryonicdevelopment.Thissignalinginfluenceshowthecellsareused
tobuildbodystructuresinthedevelopingembryo.Changesineitherthe
JAG1geneorNOTCH2geneprobablydisrupttheNotchsignaling
pathway.Asaresult,errorsmayoccurduringdevelopment,especially
affectingthebileducts,heart,spinalcolumn,andcertainfacialfeatures.
ReadmoreabouttheJAG1andNOTCH2genesandchromosome20.

CanAlagillesyndromebeinherited?
Thisconditionisinheritedinanautosomaldominantpattern,whichmeans
onecopyofthealteredordeletedgeneineachcellissufficienttocause
thedisorder.
Inapproximately30to50percentofcases,anaffectedpersoninheritsthe
mutationordeletionfromoneaffectedparent.Othercasesresultfromnew
mutationsinthegeneornewdeletionsofgeneticmaterialonchromosome
20thatoccurasrandomeventsduringtheformationofreproductivecells
(eggsorsperm)orinearlyfetaldevelopment.Thesecasesoccurinpeople
withnohistoryofthedisorderintheirfamily.

WherecanIfindinformationaboutdiagnosisormanagementof
Alagillesyndrome?
TheseresourcesaddressthediagnosisormanagementofAlagille
syndromeandmayincludetreatmentproviders.
BostonChildren'sHospital
Children'sHospitalofPhiladelphia
Children'sHospitalofPittsburgh
GeneReview:AlagilleSyndrome
GeneticTestingRegistry:Alagillesyndrome1
GeneticTestingRegistry:Arteriohepaticdysplasia
MedlinePlusEncyclopedia:TetralogyofFallot
Youmightalsofindinformationonthediagnosisormanagementof
http://ghr.nlm.nih.gov/condition/alagillesyndrome

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AlagillesyndromeinEducationalresourcesandPatientsupport.
Generalinformationaboutthediagnosisandmanagementofgenetic
conditionsisavailableintheHandbook.Readmoreaboutgenetictesting,
particularlythedifferencebetweenclinicaltestsandresearchtests.
Tolocateahealthcareprovider,seeHowcanIfindageneticsprofessional
inmyarea?intheHandbook.

WherecanIfindadditionalinformationaboutAlagillesyndrome?
YoumayfindthefollowingresourcesaboutAlagillesyndromehelpful.
Thesematerialsarewrittenforthegeneralpublic.
MedlinePlusHealthinformation(4links)
GeneticandRareDiseasesInformationCenter Information
aboutgeneticconditionsandrarediseases
AdditionalNIHResourcesNationalInstitutesofHealth(2links)
EducationalresourcesInformationpages(3links)
PatientsupportForpatientsandfamilies(3links)
Youmayalsobeinterestedintheseresources,whicharedesignedfor
healthcareprofessionalsandresearchers.
GeneReviews Clinicalsummary
GeneticTestingRegistryRepositoryofgenetictestinformation(2
links)
ClinicalTrials.gov Linkingpatientstomedicalresearch
PubMed Recentliterature
OMIM Geneticdisordercatalog

WhatothernamesdopeopleuseforAlagillesyndrome?
Alagille'ssyndrome
AlagilleWatsonSyndrome
arteriohepaticdysplasia(AHD)
cardiovertebralsyndrome
cholestasiswithperipheralpulmonarystenosis
hepaticductularhypoplasia
hepatofacioneurocardiovertebralsyndrome
paucityofinterlobularbileducts
WatsonMillersyndrome
Formoreinformationaboutnaminggeneticconditions,seetheGenetics
HomeReferenceConditionNamingGuidelinesandHowaregenetic
conditionsandgenesnamed?intheHandbook.

WhatifIstillhavespecificquestionsaboutAlagillesyndrome?
http://ghr.nlm.nih.gov/condition/alagillesyndrome

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AsktheGeneticandRareDiseasesInformationCenter .

WherecanIfindgeneralinformationaboutgeneticconditions?
TheHandbookprovidesbasicinformationaboutgeneticsinclear
language.
Whatdoesitmeanifadisorderseemstoruninmyfamily?
Whatisachromosome?
Canchangesinthenumberofchromosomesaffecthealthand
development?
Arechromosomaldisordersinherited?
Theselinksprovideadditionalgeneticsresourcesthatmaybeuseful.
GeneticsandHealth
ResourcesforPatientsandFamilies
ResourcesforHealthProfessionals

WhatglossarydefinitionshelpwithunderstandingAlagille
syndrome?
aortaautosomalautosomaldominantbilebileductcell
centralnervoussystemcholesterolchromosomedeletionduct
dysplasiaembryoembryonicgallbladdergenehepatichypoplasia
inheritedintestinejaundicemutationneonatalnervoussystem
peripheralprevalencepulmonarypulmonarystenosis
pulmonicstenosisreproductivecellsseptaldefectspermstenosis
syndrometetralogyofFallot
YoumayfinddefinitionsfortheseandmanyothertermsintheGenetics
HomeReferenceGlossary.
SeealsoUnderstandingMedicalTerminology.
References(11links)

Theresourcesonthissiteshouldnotbeusedasasubstituteforprofessional
medicalcareoradvice.Usersseekinginformationaboutapersonalgenetic
disease,syndrome,orconditionshouldconsultwithaqualifiedhealthcare
professional.SeeHowcanIfindageneticsprofessionalinmyarea?inthe
Handbook.

Reviewed:December2014
Published:December28,2015
ListerHillNationalCenterforBiomedicalCommunications
U.S.NationalLibraryofMedicine ,NationalInstitutesofHealth
DepartmentofHealth&HumanServices ,USA.gov
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