MCID: ALG002
MIFTS: 68

Alagille Syndrome malady

Eye, Cardiovascular, Liver, Nephrological, Fetal, Cancer categories

Summaries for Alagille Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 11/1/2012

MalaCards: Alagille Syndrome, also known as arteriohepatic dysplasia, is related to biliary atresia and intrahepatic cholestasis, and has symptoms including frontal bossing/prominent forehead, hypertelorism and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Alagille Syndrome is JAG1 (jagged 1), and among its related pathways are Post-transcriptional Silencing By Small RNAs and Angiogenesis. The compounds pdpc and plpc have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and kidney, and related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

Disease Ontology:8 A gastrointestinal system disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.

Genetics Home Reference:21 Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.

Wikipedia:64 Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the... more...

Description from OMIM:47 118450,610205

GeneReviews summary for alagille

Aliases & Classifications for Alagille Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Eye, Cardiovascular, Liver, Nephrological


Characteristics (Orphanet epidemiological data):

49
alagille syndrome:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

alagille syndrome 8 9 19 43 20 21 47 10 45 49
arteriohepatic dysplasia 8 19 43 22 21 49
alagille-watson syndrome 8 43 21 49
hepatic ductular hypoplasia 43 21 61
cholestasis with peripheral pulmonary stenosis 43 21
syndromic bile duct paucity 19 49
cardiovertebral syndrome 43 21
syndromic bile duct paucity due to a jag1 point mutation 49
alagille-watson syndrome due to a jag1 point mutation 49
arteriohepatic dysplasia due to a jag1 point mutation 49
syndromic bile duct paucity due to monosomy 20p12 49
alagille-watson syndrome due to monosomy 20p12 49
alagille syndrome due to a jag1 point mutation 49
arteriohepatic dysplasia due to monosomy 20p12 49
cafe-au-lait macules with pulmonary stenosis 61
alagille syndrome due to 20p12 microdeletion 49
hepatofacioneurocardiovertebral syndrome 21
alagille syndrome due to monosomy 20p12 49
paucity of interlobular bile ducts 21
alagille syndrome due to del 49
hypoplasia hepatic ductular 43
watson-miller syndrome 21
alagille's syndrome 21


External Ids:

Disease Ontology8 DOID:9245
NCIt40 C35139
MeSH35 D016738
SNOMED-CT57 31742004
SNOMED-CT via Orphanet58 31742004
UMLS via Orphanet62 C0085280
MESH via Orphanet36 D016738
ICD10 via Orphanet26 Q44.7

Related Diseases for Alagille Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Alagille Syndrome:



Diseases related to alagille syndrome

Clinical Features for Alagille Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

118450,610205

Clinical synopsis from OMIM:

118450

Symptoms:

49 (show all 43)
  • frontal bossing/prominent forehead
  • hypertelorism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • autosomal dominant inheritance
  • chronic arterial hypertension
  • coarse face
  • hepatomegaly/liver enlargement (excluding storage disease)
  • delayed bone age
  • abnormal vertebral size/shape
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • late puberty/hypogonadism/hypogenitalism
  • brachycephaly/flat occiput
  • hepatitis/icterus/cholestasis
  • micrognathia/retrognathia/micrognathism/retrognathism
  • telangiectasiae of the skin
  • anomalies of the ribs
  • corneal dystrophy
  • strabismus/squint
  • long/large/bulbous nose
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • flat face
  • atrial septal defect/interauricular communication
  • prominent/bat ears
  • nephrotic syndrome
  • intrauterine growth retardation
  • short philtrum
  • clinodactyly of fifth finger
  • intrahepatic biliary tract atresia/obstruction
  • agenesis/hypoplasia/aplasia of kidneys
  • vertebral segmentation anomaly/hemivertebrae
  • total/partial trisomy/duplication
  • round face
  • ventricular septal defect/interventricular communication
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • deepset eyes/enophthalmos
  • pointed chin
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • spina bifida occulta
  • terminal/third phalangeal bone of fingers hypoplasia
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • keratoconus/keratoglobus

Drugs & Therapeutics for Alagille Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Alagille Syndrome

Drug clinical trials:

Search ClinicalTrials for Alagille Syndrome

Search NIH Clinical Center for Alagille Syndrome

Search CenterWatch for Alagille Syndrome

Genetic Tests for Alagille Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Alagille Syndrome:

id Genetic test Affiliating Genes
1 Alagille Syndrome20 NOTCH2
2 Arteriohepatic Dysplasia22

Anatomical Context for Alagille Syndrome

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Alagille Syndrome:

33
Skin, Liver, Kidney, Whole blood, Heart, Colon, Pancreas, Thyroid, T cells, Endothelial

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Alagille Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest Cells Affected by disease
2 LiverIntrahepatic Biliary TreeImmature Biliary Epithelial Cells Affected by disease

Animal Models for Alagille Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Alagille Syndrome

Sources:
51PubMed
See all sources

Articles related to Alagille Syndrome:

(show top 50)    (show all 320)
idTitleAuthorsYear
1
Alagille syndrome: Experience of a tertiary care center in North India. (24222371)
2014
2
A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment. (23898221)
2013
3
A child's battle with Alagille syndrome. (23812347)
2013
4
Hypertension and aortorenal disease in Alagille syndrome. (22525199)
2012
5
Partial internal biliary diversion for Alagille syndrome: case report and review of the literature. (22813814)
2012
6
Surgical outcomes for patients with pulmonary atresia/major aortopulmonary collaterals and Alagille syndrome. (22402453)
2012
7
Superior cerebellar aneurysm causing subarachnoid haemorrhage in a 17-year-old with alagille syndrome. (22026469)
2012
8
Orthotopic liver transplantation for adults with Alagille syndrome. (22211770)
2012
9
Alagille syndrome: clinical and ocular pathognomonic features. (20677167)
2011
10
Renal abnormalities in a family with Alagille syndrome. (20103821)
2010
11
A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome. (20421762)
2010
12
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694049)
2009
13
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694051)
2009
14
Synchronous moyamoya syndrome and ruptured cerebral aneurysm in Alagille syndrome. (18842413)
2008
15
Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome. (17661408)
2007
16
Rare association of a patient with Alagille syndrome and mitral valve regurgitation. (17721851)
2007
17
Alagille syndrome and optic pit. (16673137)
2007
18
Relief of intractable pruritus in Alagille syndrome by partial external biliary diversion. (16410117)
2006
19
Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor. (16403414)
2006
20
Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome. (16875832)
2006
21
Hepatocellular carcinoma in children with Alagille syndrome. (16254531)
2005
22
Recurrent coarctation in a patient with Alagille syndrome. (17670471)
2005
23
Deficits in size-adjusted bone mass in children with Alagille syndrome. (15625431)
2005
24
Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation. (16013021)
2005
25
Inhibition of Jagged-mediated Notch signaling disrupts zebrafish biliary development and generates multi-organ defects compatible with an Alagille syndrome phenocopy. (15509774)
2004
26
Bleeding is a risk in alagille syndrome. (12872779)
2003
27
Scintigraphic progress of the liver in a patient with Alagille syndrome (arteriohepatic dysplasia). (14971613)
2003
28
Novel surgical and pharmacological approaches to chronic cholestasis in children: partial external biliary diversion for intractable pruritus and xanthomas in Alagille Syndrome. (12593401)
2003
29
Craniosynostosis in Alagille syndrome. (12244552)
2002
30
Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. (12244551)
2002
31
Hepatic nodular hyperplasia in a boy with Alagille syndrome: CT and MR appearances. (11550772)
2001
32
Proliferation to paucity: evolution of bile duct abnormalities in a case of Alagille syndrome. (11826362)
2001
33
A case report: Alagille syndrome. (10808707)
2000
34
JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. (10960452)
2000
35
Jagged-1 mutation analysis in Italian Alagille syndrome patients. (10533065)
1999
36
Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. (9268641)
1997
37
Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome. (9205123)
1997
38
Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. (9129746)
1997
39
Liver transplantation in children with Alagille syndrome--a study of twelve cases. (7652762)
1995
40
Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus. (7558028)
1995
41
Aortic calcification and renal cysts demonstrated by CT in a teenager with Alagille syndrome. (7567250)
1995
42
Segregation analysis of Alagille syndrome. (8071971)
1994
43
Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes. (7873876)
1994
44
Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies. (8037203)
1994
45
Extensive naevus comedonicus in a child with Alagille syndrome. (8050150)
1994
46
Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia). (8501619)
1993
47
Alagille syndrome. A case report. (1981431)
1990
48
Cholesterol and prostaglandin synthesis by cultured human skin fibroblasts in the Alagille syndrome involving paucity of interlobular bile ducts. (2516174)
1989
49
Electrophysiological findings in a family with congenital arteriohepatic dysplasia (Alagille syndrome). (3732015)
1986
50
Intravenous digital subtraction angiography to assess pulmonary artery anatomy in patients with the Alagille syndrome. (6388908)
1984

Genetic Variations for Alagille Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Alagille Syndrome:

63 (show all 50)
id Symbol AA change Variation SNP ID
1JAG1p.Leu37SerVAR_013186
2JAG1p.Leu79HisVAR_013187
3JAG1p.Ala127ThrVAR_013188
4JAG1p.Pro129ArgVAR_013189
5JAG1p.Ile152ThrVAR_013190
6JAG1p.Pro163LeuVAR_013191
7JAG1p.Arg184CysVAR_013192
8JAG1p.Arg184GlyVAR_013193
9JAG1p.Arg184HisVAR_013194
10JAG1p.Arg184LeuVAR_013195
11JAG1p.Cys187SerVAR_013196
12JAG1p.Cys220PheVAR_013197
13JAG1p.Cys229GlyVAR_013198
14JAG1p.Cys229TyrVAR_013199
15JAG1p.Cys284PheVAR_013201
16JAG1p.Trp288CysVAR_013202
17JAG1p.Gly386ArgVAR_013203
18JAG1p.Cys438PheVAR_013204
19JAG1p.Cys731SerVAR_013205
20JAG1p.Cys740ArgVAR_013206
21JAG1p.Cys753ArgVAR_013207
22JAG1p.Ala31ValVAR_026297
23JAG1p.Gly33AspVAR_026298
24JAG1p.Gly33SerVAR_026299
25JAG1p.Gly33ValVAR_026300
26JAG1p.Ile39SerVAR_026301
27JAG1p.Leu40ProVAR_026302
28JAG1p.Phe75SerVAR_026306
29JAG1p.Cys78SerVAR_026307
30JAG1p.Cys92ArgVAR_026308
31JAG1p.Cys92TyrVAR_026309
32JAG1p.Ile120AsnVAR_026310
33JAG1p.Pro123SerVAR_026311
34JAG1p.Ala155ProVAR_026312
35JAG1p.Pro163ArgVAR_026313
36JAG1p.Tyr181AsnVAR_026314
37JAG1p.Cys187TyrVAR_026315
38JAG1p.Trp224CysVAR_026317
39JAG1p.Arg252GlyVAR_026319
40JAG1p.Gly256SerVAR_026320
41JAG1p.Pro269LeuVAR_026321
42JAG1p.Cys271ArgVAR_026322
43JAG1p.Asn504SerVAR_026323
44JAG1p.Cys693TyrVAR_026325
45JAG1p.Cys714TyrVAR_026326
46JAG1p.Arg889GlnVAR_026329
47JAG1p.Cys902SerVAR_026330
48JAG1p.Cys911TyrVAR_026332
49JAG1p.Ser913ArgVAR_026333
50JAG1p.Arg937GlnVAR_026335rs145895196

Expression for genes affiliated with Alagille Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Alagille Syndrome

Search GEO for disease gene expression data for Alagille Syndrome.

Pathways for genes affiliated with Alagille Syndrome

Sources:
54Reactome, 4Cell Signaling Technology, 38NCBI BioSystems Database, 12EMD Millipore, 53R&D Systems, 52QIAGEN, 30KEGG
See all sources

Pathways related to Alagille Syndrome according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3NOTCH2, NOTCH1
210.2NOTCH2, JAG1, NOTCH1
3
Hide members
10.2NOTCH2, NOTCH1, JAG1
4
Hide members
10.2JAG1, NOTCH1, NOTCH2
5
Hide members
10.2LCAT, APOA1, LPA
610.1MESP2, FOXA2, NOTCH1
710.1HEY2, TWIST1, NOTCH1
810.1HEY2, FOXA2, NOTCH1
910.0NOTCH2, NOTCH1, DLL3, JAG1
1010.0NOTCH2, NOTCH1, DLL3, JAG1
11
Hide members
9.9NOTCH1, JAG1, MFNG, HEY2
12
Hide members
9.9RFNG, MFNG, NOTCH2, NOTCH1
139.8HEY2, TWIST1, NOTCH2, NOTCH1, DLL3
149.7NOTCH2, MFNG, JAG1, DLL3, NOTCH1, RFNG
15
Hide members
9.7NOTCH1, JAG1, MFNG, HEY2, RFNG, NOTCH2
16
Hide members
9.5JAG1, HEY2, MFNG, DLL3, NOTCH1, NOTCH2

Compounds for genes affiliated with Alagille Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB
See all sources

Compounds related to Alagille Syndrome according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1pdpc4510.5LCAT, APOA1
2plpc4510.5LCAT, APOA1
3torcetrapib4510.5LCAT, APOA1
4dimyristoylphosphatidylcholine4510.4LPA, APOA1, LCAT
5cholesterol ester4510.4LPA, APOA1, LCAT
6bezafibrate45 29 1112.4ABCB4, LPA, APOA1, LCAT
7taurocholate4510.3ABCB4, ATP8B1, APOA1
8p-opc4510.3APOA1, LCAT
9pravastatin45 50 29 11 2414.2LCAT, APOA1, LPA
10phosphatidylcholine4510.2LCAT, APOA1, LPA, NRP1, ABCB4
11atorvastatin45 50 29 11 2414.2LPA, APOA1, LCAT
12retinyl palmitate45 2411.0APOA1, LCAT
13cholesterol45 29 11 2413.0LCAT, APOA1, LPA, ATP8B1, NRP1, ABCB4
14phospholipid459.9LCAT, APOA1, NRP1, ABCB4
15estrogen459.9LCAT, APOA1, LPA, NRP1, ABCB4, NOTCH1
16lipid459.8LCAT, APOA1, LPA, ATP8B1, NRP1, ABCB4

GO Terms for genes affiliated with Alagille Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Alagille Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.3RFNG, NOTCH2NL, NOTCH2, NOTCH1, NRP1, LPA

Biological processes related to Alagille Syndrome according to GeneCards/GeneDecks:

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1distal tubule developmentGO:07201710.6NOTCH1, JAG1
2negative regulation of stem cell differentiationGO:200073710.6JAG1, NOTCH1
3lipoprotein biosynthetic processGO:04215810.6LCAT, APOA1
4pulmonary artery morphogenesisGO:06115610.6HEY2, JAG1
5cardiac vascular smooth muscle cell developmentGO:06094810.6NOTCH1, HEY2
6compartment pattern specificationGO:00738610.6DLL3, NOTCH1
7arterial endothelial cell differentiationGO:06084210.6HEY2, NOTCH1
8aortic valve morphogenesisGO:00318010.6NOTCH1, TWIST1
9Notch receptor processingGO:00722010.6JAG1, NOTCH1, NOTCH2
10mesenchymal cell developmentGO:01403110.5HEY2, NOTCH1
11lipoprotein metabolic processGO:04215710.5LCAT, APOA1, LPA
12atrial septum morphogenesisGO:06041310.5HEY2, NOTCH2
13response to muramyl dipeptideGO:03249510.5JAG1, NOTCH1
14cardiac ventricle morphogenesisGO:00320810.5NOTCH1, HEY2
15cardiac septum morphogenesisGO:06041110.5NOTCH1, JAG1, HEY2
16endocardial cushion morphogenesisGO:00320310.5NOTCH1, TWIST1
17ventricular trabecula myocardium morphogenesisGO:00322210.5HEY2, NOTCH1
18cardiac left ventricle morphogenesisGO:00321410.5HEY2, NOTCH1
19neuronal stem cell maintenanceGO:09715010.5JAG1, NOTCH1
20cardiac right ventricle morphogenesisGO:00321510.5HEY2, JAG1
21positive regulation of Notch signaling pathwayGO:04574710.4RFNG, JAG1, MFNG
22cell fate determinationGO:00170910.4JAG1, NOTCH2
23pulmonary valve morphogenesisGO:00318410.4NOTCH2, NOTCH1, JAG1, HEY2
24Notch signaling involved in heart developmentGO:06131410.4HEY2, JAG1, NOTCH1, NOTCH2
25cardiac epithelial to mesenchymal transitionGO:06031710.4HEY2, NOTCH1
26negative regulation of neurogenesisGO:05076810.3DLL3, NOTCH1
27pattern specification processGO:00738910.3FOXA2, MFNG, RFNG
28high-density lipoprotein particle remodelingGO:03437510.3LCAT, APOA1
29cholesterol transportGO:03030110.3LCAT, APOA1
30organ morphogenesisGO:00988710.2RFNG, NOTCH2, NRP1
31positive regulation of cardiac muscle cell proliferationGO:06004510.2NOTCH1, HEY2
32signal transduction involved in regulation of gene expressionGO:02301910.1MESP2, FOXA2
33positive regulation of transcription from RNA polymerase II promoterGO:04594410.1HEY2, FOXA2, JAG1, MESP2, NOTCH1, TWIST1
34reverse cholesterol transportGO:04369110.0APOA1, LCAT
35Notch signaling pathwayGO:00721910.0NOTCH2NL, HEY2, JAG1, MESP2, DLL3, NOTCH1

Molecular functions related to Alagille Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:00511210.2DLL3, JAG1
2O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activityGO:0338299.8RFNG, MFNG

Products for genes affiliated with Alagille Syndrome

  • Antibodies
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  • Lysates
  • Antibodies

Sources for Alagille Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet