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Alagille Syndrome (CUI C0085280) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0085280

NCI Thesaurus Code: C35139  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

NCIt Definition: An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.

GARD Definition: Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. It is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton.  Symptoms, including jaundice, pale, loose stools, and poor growth, typically develop in the first 2 years of life. Symptoms and symptom severity varies, even among people in the same family. Alagille syndrome is caused by mutations in the JAG1 and NOTCH2 genes. It is inherited in an autosomal dominant pattern. Treatment is symptomatic and supportive. In severe cases, liver transplant may be necessary. - this information is from GARD/ORDR/NCATS.

CSP Definition: autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis.

MSH Definition: A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).

Synonyms & Abbreviations: (see Synonym Details)
AHD
ALAGILLE SYNDROME 1
Alagille Syndrome [Disease/Finding]
Alagille syndrome
Alagille Watson Syndrome
Alagille's syndrome
Alagille-Watson syndrome
Alagilles Syndrome
ALGS1
ALGS
Arteriohepatic Dysplasia (AHD)
Arteriohepatic dysplasia (disorder)
arteriohepatic dysplasia
AWS
Cardiovertebral syndrome
CHOLESTASIS WITH PERIPHERAL PULM STENOSIS
Cholestasis with peripheral pulmonary stenosis
Dysplasia, Arteriohepatic (AHD)
Dysplasia, Arteriohepatic
Hepatic Ductular Hypoplasia, Syndromatic
Hepatofacioneurocardiovertebral syndrome
Syndrome, Alagille Watson
Syndrome, Alagille's
Syndrome, Alagille-Watson
Syndrome, Alagille
Syndrome, Cardiovertebral
Syndrome, Hepatofacioneurocardiovertebral
Syndrome, Watson Alagille
Syndrome, Watson Miller
syndrome, Watson-Miller
Syndromic bile duct paucity
Watson Alagille syndrome
Watson Miller Syndrome
Watson-Alagille syndrome
Watson-Miller syndrome

External Source Codes: 
NCI Thesaurus Code C35139 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PB635 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 5005-0002 CSP
DISEASE_IDENTIFIER_ID 33235 GARD
DISEASE_IDENTIFIER_ID 7237 GARD
DISEASE_IDENTIFIER_ID 7238 GARD
DISEASE_IDENTIFIER_ID 7239 GARD
DISEASE_IDENTIFIER_ID 7240 GARD
DISEASE_IDENTIFIER_ID 7242 GARD
DISEASE_IDENTIFIER_ID 7243 GARD
DISEASE_IDENTIFIER_ID 7244 GARD
DX 19920101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,2,0,p,1,2, OMIM
GENESYMBOL AGS OMIM
GENESYMBOL AHD OMIM
GENESYMBOL JAG1 OMIM
HAS_GARD_PAGE true GARD
HN 92 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2008-12-31T00:00:00 GARD
MDA 19910429 MSH
MESH_DEFINITION A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). NDFRT
MESH_DUI D016738 NDFRT
MESH_NAME Alagille Syndrome NDFRT
MESH_UI M0025493 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C06.130.120.135.250.125 MSH
MN C06.552.150.125 MSH
MN C14.240.400.044 MSH
MN C16.131.077.065 MSH
MN C16.131.240.400.044 MSH
MN C16.320.051 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Alagille Syndrome NCI
NUI N0000003467 NDFRT
PM 92 MSH
PRIMARY_PATH 10053870$10019803$10019806$10010331$Alagille syndrome$Hepatobiliary abnormalities congenital$Hepatobiliary disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/804/alagille-syndrome/resources/1 GARD
RXAUI 3107271 RXNORM
RXAUI 3107272 RXNORM
RXAUI 3111579 RXNORM
RXAUI 3132835 RXNORM
RXAUI 3149607 RXNORM
RXAUI 3172144 RXNORM
RXAUI 3605490 RXNORM
RXAUI 3605613 RXNORM
RXAUI 3605882 RXNORM
RXAUI 3606419 RXNORM
RXAUI 3606420 RXNORM
RXAUI 3606421 RXNORM
RXAUI 5038618 RXNORM
RXAUI 5930155 RXNORM
RXAUI 5930251 RXNORM
RXCUI 1021943 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 8.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 12.1 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 31742004 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q44.7 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q44.7 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q44.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q44.5 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PB635 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T050177 MSH
TERMUI T050178 MSH
TERMUI T050179 MSH
TERMUI T521200 MSH
TERMUI T521201 MSH
TERMUI T763946 MSH
TERMUI T763947 MSH
TERMUI T763949 MSH
TERMUI T763950 MSH
TERMUI T770104 MSH
TERMUI T770105 MSH
TERMUI T811985 MSH
TERMUI T840848 MSH
TERMUI T844113 MSH
TH GHR (2014) MSH
TH NLM (1992) MSH
TH NLM (2004) MSH
TH NLM (2011) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0085280

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