MCID: ALG002
MIFTS: 80

Alagille Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Liver diseases, Nephrological diseases, Fetal diseases, Cancer diseases, Gastrointestinal diseases categories
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Summaries for Alagille Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 cholestasis and biliary atresia, and has symptoms including vertebral segmentation anomaly/hemivertebrae, downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures and ventricular septal defect/interventricular communication. An important gene associated with Alagille Syndrome is JAG1 (jagged 1), and among its related pathways are Statin Pathway and Selected targets of HNF1. The compounds pdpc and torcetrapib have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and heart, and related mouse phenotypes are renal/urinary system and endocrine/exocrine gland.

Disease Ontology:8 A liver 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:65 Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the... more...

Description from OMIM:47 610205,118450

GeneReviews summary for alagille

Aliases & Classifications for Alagille Syndrome

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8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 22GTR, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



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 65 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 62
cholestasis with peripheral pulmonary stenosis 43 21
hepatofacioneurocardiovertebral syndrome 43 21
paucity of interlobular bile ducts 43 21
syndromic bile duct paucity 19 49
cardiovertebral syndrome 43 21
watson-miller 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
arteriohepatic dysplasia due to monosomy 20p12 49
alagille syndrome due to a jag1 point mutation 49
alagille-watson syndrome due to monosomy 20p12 49
alagille syndrome due to 20p12 microdeletion 49
cafe-au-lait macules with pulmonary stenosis 62
alagille syndrome due to monosomy 20p12 49
alagille syndrome due to del(20)(p12) 49
hypoplasia hepatic ductular 43
watson alagille syndrome 43
alagille's syndrome 21


External Ids:

Disease Ontology8 DOID:9245
NCIt40 C35139
MeSH35 D016738
SNOMED-CT58 31742004
SNOMED-CT via Orphanet59 31742004
UMLS via Orphanet63 C0085280
MESH via Orphanet36 D016738
ICD10 via Orphanet26 Q44.7

Related Diseases for Alagille Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Alagille Syndrome family:

Jag1-Related Alagille Syndrome Notch2-Related Alagille Syndrome
Alagille Syndrome 2

Diseases related to Alagille Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis30.6NOTCH2, LCAT, JAG1, ATP8B1, ABCB4
2biliary atresia30.6ATP8B1
3hypertension30.6APOA1, NOTCH1, LPA
4hypercholesterolemia30.0LPA, APOA1, LCAT
5intrahepatic cholestasis30.0ATP8B1, ABCB4, JAG1
6exocrine pancreatic insufficiency10.5
7prune belly syndrome10.5
8aneurysm10.4
9hepatitis10.4
10hepatocellular carcinoma10.4
11watson syndrome10.3
12jag1-related alagille syndrome10.3
13notch2-related alagille syndrome10.3
14alagille syndrome 210.3
15biliary hypoplasia10.2
16keratoderma10.2
17cerebritis10.2
18craniosynostosis10.2
19intracranial hypertension10.2
20liver disease10.2
21retinitis10.2
22cerebral aneurysms10.2
23hypoalphalipoproteinemia10.1APOA1, LCAT
24arcus senilis10.1APOA1, LCAT
25fish-eye disease10.1APOA1, LCAT
26norum disease10.1APOA1, LCAT
27left ventricular outflow tract obstruction10.0NOTCH1
28hypobetalipoproteinemia10.0LCAT, APOA1
29hyperalphalipoproteinemia10.0LCAT, APOA1
30hyperlipidemia type 310.0APOA1, LPA
31peripheral vascular disease10.0LPA, APOA1
32abetalipoproteinemia10.0APOA1, LCAT
33coronary stenosis10.0LPA, APOA1
34cholestasis, progressive familial intrahepatic 210.0ATP8B1, ABCB4
35cadasil10.0JAG1, NOTCH1
36wolff-parkinson-white syndrome10.0
37renovascular hypertension10.0
38median neuropathy10.0
39steatorrhea10.0
40hypervitaminosis d10.0
41hypervitaminosis a10.0
42wilson disease10.0
43pseudotumor cerebri10.0
44lens subluxation10.0
45patent ductus arteriosus10.0
46granuloma annulare10.0
47erythropoietic protoporphyria10.0
48moyamoya disease10.0
49amyloidosis10.0
50atherosclerosis10.0

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



Diseases related to alagille syndrome

Symptoms for Alagille Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

118450

Clinical features from OMIM:

610205,118450

Symptoms:

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

Drugs & Therapeutics for Alagille Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Alagille Syndrome

Search NIH Clinical Center for Alagille Syndrome

Genetic Tests for Alagille Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Alagille Syndrome:

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

Anatomical Context for Alagille Syndrome

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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Alagille Syndrome:

33
Liver, Kidney, Heart, Eye, Bone, Testes, Skin, Colon, Thyroid, Endothelial, Pancreas

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

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37MGI
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MGI Mouse Phenotypes related to Alagille Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5LCAT, JAG1, NOTCH2, NOTCH1
2MP:00053797.4NOTCH1, NOTCH2, LCAT, JAG1, ABCB4, APOA1
3MP:00053857.1NOTCH1, LCAT, NOTCH2, ABCB4, APOA1, JAG1
4MP:00053706.9ABCB4, ATP8B1, APOA1, JAG1, LCAT, NOTCH2
5MP:00053766.8JAG1, ABCB4, ATP8B1, APOA1, LCAT, NOTCH2

Publications for Alagille Syndrome

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52PubMed
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Articles related to Alagille Syndrome:

(show top 50)    (show all 310)
idTitleAuthorsYear
1
Management of cholestatic pruritus in paediatric patients with alagille syndrome: the King's college hospital experience. (23619030)
2013
2
A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment. (23898221)
2013
3
Renal anomalies in Alagille syndrome: a disease-defining feature. (22105858)
2012
4
Alagille syndrome: spectrum of clinical presentation in India. (22692667)
2012
5
Alagille syndrome: pathogenesis, diagnosis and management. (21934706)
2012
6
Macrodontic maxillary incisor in alagille syndrome. (23814595)
2012
7
Pancreatic insufficiency is not a prevalent problem in Alagille syndrome. (22614108)
2012
8
Perthes-like disease in Alagille syndrome. (21642856)
2011
9
Reversible diffuse white matter lesion in Alagille syndrome. (21723462)
2011
10
Hepatocellular carcinoma and regenerating nodule in a 3-year-old child with Alagille syndrome. (20714715)
2010
11
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694048)
2009
12
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694049)
2009
13
Fluctuation of lipoprotein metabolism linked with bile acid-activated liver nuclear receptors in Alagille syndrome. (18430427)
2008
14
Intense pruritus and failure to thrive in Alagille syndrome. (18191720)
2008
15
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. (18688871)
2008
16
Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome. (17661408)
2007
17
Rare association of a patient with Alagille syndrome and mitral valve regurgitation. (17721851)
2007
18
Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. (17786115)
2007
19
Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. (17720887)
2007
20
Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome. (16954958)
2006
21
The cardiovascular manifestations of Alagille syndrome and JAGI mutations. (16930015)
2006
22
Alagille syndrome and aneurysmal subarachnoid hemorrhage. Case report and review of the literature. (16357504)
2006
23
Alagille syndrome with prominent skin manifestations. (16394388)
2005
24
Orthotopic liver transplantation for alagille syndrome. (15848660)
2005
25
Gene symbol: JAG1. Disease: Alagille syndrome. (15988824)
2005
26
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. (14993126)
2004
27
Bleeding is a risk in alagille syndrome. (12872779)
2003
28
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. (12497640)
2003
29
Liver transplantation in an adolescent with Alagille syndrome. (11498144)
2001
30
Hepatic nodular hyperplasia in a boy with Alagille syndrome: CT and MR appearances. (11550772)
2001
31
Alagille syndrome and the Jagged1 gene. (11745040)
2001
32
Abdominal coarctation and Alagille syndrome. (10878178)
2000
33
Intracranial hemorrhages in Alagille syndrome. (10802514)
2000
34
A case report: Alagille syndrome. (10808707)
2000
35
Jagged-1 mutation analysis in Italian Alagille syndrome patients. (10533065)
1999
36
Alagille syndrome with cavernous carotid artery aneurysm. (10576615)
1999
37
Cholesterol efflux from Fu5AH cells to the serum of patients with Alagille syndrome. Importance of the hdl-phospholipids/free cholesterol ratio and of the hdl size distribution. (9925663)
1999
38
Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. (10051485)
1999
39
Balloon pulmonary valvuloplasty and stent implantation. For peripheral pulmonary artery stenosis in Alagille syndrome. (9566070)
1998
40
Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome). (9890073)
1998
41
Renal transplantation in Alagille syndrome. (9481741)
1998
42
Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. (9585603)
1998
43
Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. (9268641)
1997
44
Alagille syndrome (arteriohepatic dysplasia) (7484802)
1995
45
Segregation analysis of Alagille syndrome. (8071971)
1994
46
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
47
Angle closure glaucoma in Alagille syndrome. A case report. (8233352)
1993
48
Alagille syndrome and hepatocarcinoma: a case report. (1334742)
1992
49
Late recurrence of a hepatocellular carcinoma in a patient with incomplete Alagille syndrome. (2170223)
1990
50
Xanthomas in the Watson-Alagille syndrome. (3108338)
1987

Variations for Alagille Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Alagille Syndrome:

64 (show all 50)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Alagille Syndrome:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1JAG1JAG1, 2-BP DEL, 3098GTdeletionPathogenic
2JAG1JAG1, IVS23DS, G-C, +1single nucleotide variantPathogenic
3JAG1JAG1, 2-BP DEL, 1104AGdeletionPathogenic
4JAG1JAG1, 1-BP DEL, 2066CdeletionPathogenic
5JAG1NM_000214.2(JAG1): c.550C> T (p.Arg184Cys)single nucleotide variantPathogenicrs121918350GRCh37Chr 20, 10639260: 10639260
6JAG1NM_000214.2(JAG1): c.551G> A (p.Arg184His)single nucleotide variantPathogenicrs121918351GRCh37Chr 20, 10639259: 10639259
7JAG1JAG1, 5-BP DELdeletionPathogenic
8JAG1JAG1, 1-BP INS, 1618CinsertionPathogenic
9JAG1JAG1, 1-BP INS, 684GinsertionPathogenic
10JAG1NM_000214.2(JAG1): c.110T> C (p.Leu37Ser)single nucleotide variantPathogenicrs121918352GRCh37Chr 20, 10653626: 10653626
11JAG1JAG1, 2-BP DEL, 1485CTdeletionPathogenic
12JAG1JAG1, 1329, T-G, +2single nucleotide variantPathogenic

Expression for genes affiliated with Alagille Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
50PathCards, 38NCBI BioSystems Database, 51PharmGKB, 12EMD Millipore, 30KEGG, 57SinoBiological, 55Reactome, 5Cell Signaling Technology, 53QIAGEN, 54R&D Systems
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Pathways related to Alagille Syndrome according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5LCAT, APOA1
29.5LPA, APOA1
3
Show member pathways
9.3NOTCH1, JAG1
49.3NOTCH2, NOTCH1
5
Show member pathways
9.1LCAT, LPA, APOA1
68.9NOTCH1, NOTCH2, JAG1
7
Show member pathways
Delta-Notch Signaling Pathway38
Notch Signaling Pathway38
8.9JAG1, NOTCH2, NOTCH1
8
Show member pathways
Notch signaling pathway38
8.9JAG1, NOTCH2, NOTCH1
98.9NOTCH1, NOTCH2, JAG1
108.9NOTCH1, NOTCH2, JAG1
11
Show member pathways
8.9NOTCH1, NOTCH2, JAG1
12
Show member pathways
8.9NOTCH1, NOTCH2, JAG1

Compounds for genes affiliated with Alagille Syndrome

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Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Alagille Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 1163)
idCompoundScoreTop Affiliating Genes
1pdpc4510.0LCAT, APOA1
2torcetrapib4510.0APOA1, LCAT
3plpc4510.0APOA1, LCAT
4dimyristoylphosphatidylcholine459.5LPA, APOA1, LCAT
5cholesterol ester459.5LCAT, APOA1, LPA
6PC(P-18:1(11Z)/18:3(6Z,9Z,12Z))249.3ATP8B1, ABCB4, LCAT
7PC(P-18:1(11Z)/18:3(9Z,12Z,15Z))249.3LCAT, ATP8B1, ABCB4
8PC(P-18:1(11Z)/18:4(6Z,9Z,12Z,15Z))249.3LCAT, ATP8B1, ABCB4
9PC(P-18:1(11Z)/20:0)249.3LCAT, ATP8B1, ABCB4
10PC(P-18:1(11Z)/22:5(7Z,10Z,13Z,16Z,19Z))249.3LCAT, ATP8B1, ABCB4
11PC(P-18:1(11Z)/18:2(9Z,12Z))249.3ABCB4, ATP8B1, LCAT
12PC(P-18:0/22:2(13Z,16Z))249.3LCAT, ATP8B1, ABCB4
13PC(P-18:0/22:4(7Z,10Z,13Z,16Z))249.3LCAT, ATP8B1, ABCB4
14PC(P-18:0/22:5(4Z,7Z,10Z,13Z,16Z))249.3LCAT, ATP8B1, ABCB4
15PC(P-18:0/22:5(7Z,10Z,13Z,16Z,19Z))249.3LCAT, ATP8B1, ABCB4
16PC(P-18:1(11Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))249.3LCAT, ATP8B1, ABCB4
17PC(P-18:1(9Z)/20:1(11Z))249.3ATP8B1, ABCB4, LCAT
18PC(P-18:1(9Z)/20:2(11Z,14Z))249.3LCAT, ATP8B1, ABCB4
19PC(P-18:1(9Z)/20:3(5Z,8Z,11Z))249.3LCAT, ATP8B1, ABCB4
20PC(P-18:1(9Z)/20:3(8Z,11Z,14Z))249.3LCAT, ATP8B1, ABCB4
21PC(P-18:1(9Z)/24:1(15Z))249.3LCAT, ATP8B1, ABCB4
22PC(P-18:1(9Z)/20:0)249.3ABCB4, LCAT, ATP8B1
23PC(P-18:1(11Z)/24:0)249.3LCAT, ATP8B1, ABCB4
24PC(P-18:1(11Z)/24:1(15Z))249.3LCAT, ATP8B1, ABCB4
25PC(P-18:1(9Z)/14:0)249.3LCAT, ATP8B1, ABCB4
26PC(20:3(8Z,11Z,14Z)/20:1(11Z))249.3LCAT, ATP8B1, ABCB4
27PC(P-16:0/18:0)249.3ATP8B1, ABCB4, LCAT
28taurocholate459.2ABCB4, ATP8B1, APOA1
29PC(P-16:0/18:1(11Z))249.2LCAT, ATP8B1, ABCB4
30PC(P-16:0/18:1(9Z))249.2LCAT, ATP8B1, ABCB4
31PC(P-16:0/20:4(8Z,11Z,14Z,17Z))249.2LCAT, ATP8B1, ABCB4
32PC(P-16:0/20:5(5Z,8Z,11Z,14Z,17Z))249.2LCAT, ATP8B1, ABCB4
33PC(P-16:0/16:1(9Z))249.2ABCB4, LCAT, ATP8B1
34PC(dm18:1(11Z)/20:4(8Z,11Z,14Z,17Z))249.2LCAT, ATP8B1, ABCB4
35PC(P-16:0/15:0)249.2LCAT, ATP8B1, ABCB4
36PC(P-16:0/16:0)249.2LCAT, ATP8B1, ABCB4
37PC(P-16:0/22:0)249.1LCAT, ATP8B1, ABCB4
38PC(P-18:0/18:1(11Z))249.1ATP8B1, ABCB4, LCAT
39PC(P-18:0/18:1(9Z))249.1LCAT, ATP8B1, ABCB4
40PC(P-18:0/18:2(9Z,12Z))249.1LCAT, ATP8B1, ABCB4
41PC(P-18:0/18:3(6Z,9Z,12Z))249.0LCAT, ATP8B1, ABCB4
42PC(P-18:0/22:1(13Z))249.0LCAT, ATP8B1, ABCB4
43PC(P-18:0/18:0)248.9ABCB4, LCAT, ATP8B1
44PC(P-16:0/22:4(7Z,10Z,13Z,16Z))248.9LCAT, ATP8B1, ABCB4
45bezafibrate45 29 1110.9LPA, ABCB4, APOA1, LCAT
46phosphatidylcholine458.9LCAT, ABCB4, APOA1, LPA
47PC(P-16:0/22:1(13Z))248.8LCAT, ATP8B1, ABCB4
48PC(P-16:0/22:2(13Z,16Z))248.6LCAT, ATP8B1, ABCB4
49cholesterol45 29 24 1111.4LPA, APOA1, ABCB4, ATP8B1, LCAT
50lipid457.6ATP8B1, NOTCH1, APOA1, LPA, ABCB4, LCAT

GO Terms for genes affiliated with Alagille Syndrome

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Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:0343649.4LCAT, APOA1
2integral component of plasma membraneGO:0058878.6NOTCH2, JAG1, ATP8B1, ABCB4
3extracellular regionGO:0055767.5NOTCH1, APOA1, JAG1, LPA, LCAT, NOTCH2
4plasma membraneGO:0058867.0ABCB4, ATP8B1, APOA1, JAG1, NOTCH2, NOTCH1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1morphogenesis of an epithelial sheetGO:00201110.0JAG1, NOTCH2
2cell fate determinationGO:0017099.8NOTCH2, JAG1
3lipoprotein biosynthetic processGO:0421589.8APOA1, LCAT
4high-density lipoprotein particle remodelingGO:0343759.7APOA1, LCAT
5cholesterol transportGO:0303019.7APOA1, LCAT
6distal tubule developmentGO:0720179.6NOTCH1, JAG1
7negative regulation of stem cell differentiationGO:20007379.6JAG1, NOTCH1
8cardiac septum morphogenesisGO:0604119.6NOTCH1, JAG1
9interleukin-4 secretionGO:0726029.6NOTCH2, NOTCH1
10response to muramyl dipeptideGO:0324959.5JAG1, NOTCH1
11neuronal stem cell maintenanceGO:0971509.5NOTCH1, JAG1
12reverse cholesterol transportGO:0436919.4APOA1, LCAT
13lipoprotein metabolic processGO:0421579.4APOA1, LPA, LCAT
14inflammatory response to antigenic stimulusGO:0024379.3NOTCH1, NOTCH2
15determination of left/right symmetryGO:0073689.3NOTCH1, NOTCH2
16pulmonary valve morphogenesisGO:0031849.3NOTCH1, NOTCH2, JAG1
17Notch signaling involved in heart developmentGO:0613149.3JAG1, NOTCH2, NOTCH1
18Notch receptor processingGO:0072209.3NOTCH1, NOTCH2, JAG1
19phosphatidylcholine biosynthetic processGO:0066569.2LCAT, APOA1
20Notch signaling pathwayGO:0072199.2NOTCH1, NOTCH2, JAG1

Products for genes affiliated with Alagille Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alagille Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet