MCID: ALG002
MIFTS: 83

Alagille Syndrome malady

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

Summaries for Alagille Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 hepatocellular carcinoma, and has symptoms including ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray, terminal/third phalangeal bone of fingers hypoplasia and clinodactyly of fifth finger. 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 liver, heart 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:63 Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the... more...

Description from OMIM:46 118450,610205

GeneReviews summary for alagille

Aliases & Classifications for Alagille Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
alagille syndrome:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

alagille syndrome 8 9 19 42 20 21 46 10 44 48
arteriohepatic dysplasia 8 19 42 22 21 48
alagille-watson syndrome 8 42 21 48
hepatic ductular hypoplasia 42 21 60
cholestasis with peripheral pulmonary stenosis 42 21
syndromic bile duct paucity 19 48
cardiovertebral syndrome 42 21
syndromic bile duct paucity due to a jag1 point mutation 48
alagille-watson syndrome due to a jag1 point mutation 48
arteriohepatic dysplasia due to a jag1 point mutation 48
syndromic bile duct paucity due to monosomy 20p12 48
alagille syndrome due to a jag1 point mutation 48
alagille-watson syndrome due to monosomy 20p12 48
arteriohepatic dysplasia due to monosomy 20p12 48
alagille syndrome due to 20p12 microdeletion 48
cafe-au-lait macules with pulmonary stenosis 60
hepatofacioneurocardiovertebral syndrome 21
alagille syndrome due to monosomy 20p12 48
alagille syndrome due to del(20)(p12) 48
paucity of interlobular bile ducts 21
hypoplasia hepatic ductular 42
watson-miller syndrome 21
alagille's syndrome 21


External Ids:

Disease Ontology8 DOID:9245
NCIt39 C35139
MeSH34 D016738
SNOMED-CT56 31742004
SNOMED-CT via Orphanet57 31742004
UMLS via Orphanet61 C0085280
MESH via Orphanet35 D016738
ICD10 via Orphanet26 Q44.7

Related Diseases for Alagille Syndrome

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Sources:
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 82)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis30.6LCAT, JAG1, ATP8B1, ABCB4, NOTCH2
2hepatocellular carcinoma30.5JAG1, NRP1, ABCB4, NOTCH1, TWIST1
3biliary atresia30.4ATP8B1
4congenital heart defect30.2NOTCH1, HEY2
5intrahepatic cholestasis30.2JAG1, ATP8B1, ABCB4
6pancreatitis30.0ABCB4
7watson syndrome10.6
8exocrine pancreatic insufficiency10.4
9hypertension10.4
10hepatitis10.3
11adult syndrome10.3
12image syndrome10.2
13jag1-related alagille syndrome10.2
14notch2-related alagille syndrome10.2
15alagille syndrome 210.2
16cerebritis10.1
17hepatitis a10.1
18craniosynostosis10.1
19intracranial hypertension10.1
20liver disease10.1
21renal hypertension10.1
22retinitis10.1
23williams syndrome10.1
24moyamoya disease10.0
25renovascular hypertension10.0
26wolff-parkinson-white syndrome10.0
27pseudotumor cerebri10.0
28lens subluxation10.0
29median neuropathy10.0
30steatorrhea10.0
31hypoplastic left heart syndrome10.0
32hypervitaminosis a10.0
33hypervitaminosis d10.0
34wilson disease10.0
35erythropoietic protoporphyria10.0
36granuloma annulare10.0
37patent ductus arteriosus10.0
38amyloidosis10.0
39atherosclerosis10.0
40chorioretinitis10.0
41diabetes mellitus10.0
42glaucoma10.0
43nephroblastoma10.0
44neuropathy10.0
45optic atrophy10.0
46retinal detachment10.0
47sarcoidosis10.0
48synostosis10.0
49thyroid cancer10.0
50thyroiditis10.0

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



Diseases related to alagille syndrome

Clinical Features for Alagille Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

118450,610205

Clinical synopsis from OMIM:

118450

Symptoms:

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

Drugs & Therapeutics for Alagille Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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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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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Alagille Syndrome:

32
Liver, Heart, Kidney, Eye, Bone, Testes, Skin, Thyroid, Colon, 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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36MGI
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Publications for Alagille Syndrome

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50PubMed
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Articles related to Alagille Syndrome:

(show top 50)    (show all 316)
idTitleAuthorsYear
1
Alagille syndrome: Experience of a tertiary care center in North India. (24222371)
2014
2
Management of cholestatic pruritus in paediatric patients with alagille syndrome: the King's college hospital experience. (23619030)
2013
3
A child's battle with Alagille syndrome. (23812347)
2013
4
Alagille syndrome: pathogenesis, diagnosis and management. (21934706)
2012
5
Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome. (23095891)
2012
6
Ileal exclusion for intractable pruritus in Alagille syndrome. (22573255)
2012
7
Orthotopic liver transplantation for adults with Alagille syndrome. (22211770)
2012
8
Oxidative stress-induced apoptosis in two patients with Alagille syndrome. (21714972)
2011
9
Alagille syndrome: clinical and ocular pathognomonic features. (20677167)
2011
10
Hepatocellular carcinoma and regenerating nodule in a 3-year-old child with Alagille syndrome. (20714715)
2010
11
Glomerular basement membrane lipidosis in Alagille syndrome. (20091053)
2010
12
A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome. (20421762)
2010
13
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694049)
2009
14
Alagille syndrome associated with myelinated retinal nerve fibers. (19571600)
2009
15
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694051)
2009
16
Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. (17786115)
2007
17
Relief of intractable pruritus in Alagille syndrome by partial external biliary diversion. (16410117)
2006
18
Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor. (16403414)
2006
19
Tube weaning according to the Graz model in two children with Alagille syndrome. (17096761)
2006
20
Deficits in size-adjusted bone mass in children with Alagille syndrome. (15625431)
2005
21
Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation. (16013021)
2005
22
From gene to disease: arteriohepatic dysplasia or Alagille syndrome]. (12848056)
2003
23
Scintigraphic progress of the liver in a patient with Alagille syndrome (arteriohepatic dysplasia). (14971613)
2003
24
Novel surgical and pharmacological approaches to chronic cholestasis in children: partial external biliary diversion for intractable pruritus and xanthomas in Alagille Syndrome. (12593401)
2003
25
Morbidity in Alagille syndrome in 6 Malaysian children. (15190647)
2003
26
Craniosynostosis in Alagille syndrome. (12244552)
2002
27
Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. (12244551)
2002
28
Proliferation to paucity: evolution of bile duct abnormalities in a case of Alagille syndrome. (11826362)
2001
29
Intracranial hemorrhages in Alagille syndrome. (10802514)
2000
30
JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. (10960452)
2000
31
Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. (9268641)
1997
32
Middle aortic syndrome in a boy with arteriohepatic dysplasia (Alagille syndrome). (9142719)
1997
33
Alagille syndrome--a notch up for the Notch receptor. (9207778)
1997
34
Endocrinologic and metabolic complications of Alagille syndrome]. (9411201)
1997
35
Alagille syndrome. (9039994)
1997
36
Abnormal lipoprotein pattern in patients with Alagille syndrome depends on Icterus severity. (8831598)
1996
37
Alagille syndrome today. (8889270)
1996
38
Alagille syndrome (arteriohepatic dysplasia) (7484802)
1995
39
Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. (7485156)
1995
40
Aortic calcification and renal cysts demonstrated by CT in a teenager with Alagille syndrome. (7567250)
1995
41
Segregation analysis of Alagille syndrome. (8071971)
1994
42
Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies. (8037203)
1994
43
Angle closure glaucoma in Alagille syndrome. A case report. (8233352)
1993
44
Alagille Syndrome (20301450)
1993
45
Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia). (8501619)
1993
46
Screening of microdeletions of chromosome 20 in patients with Alagille syndrome. (1583641)
1992
47
Late recurrence of a hepatocellular carcinoma in a patient with incomplete Alagille syndrome. (2170223)
1990
48
Alagille syndrome. A case report. (1981431)
1990
49
Alagille syndrome associated with moyamoya disease. (2750789)
1989
50
Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). (2793167)
1989

Genetic Variations for Alagille Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Alagille Syndrome:

62 (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

Expression for genes affiliated with Alagille Syndrome

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1BioGPS, 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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53Reactome, 4Cell Signaling Technology, 37NCBI BioSystems Database, 12EMD Millipore, 52R&D Systems, 51QIAGEN, 29KEGG
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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, NOTCH1, JAG1
3
Hide members
10.2NOTCH2, NOTCH1, JAG1
4
Hide members
10.2JAG1, NOTCH1, NOTCH2
5
Hide members
10.2LCAT, APOA1, LPA
610.1FOXA2, MESP2, NOTCH1
710.1TWIST1, NOTCH1, HEY2
810.1NOTCH1, FOXA2, HEY2
910.0JAG1, DLL3, NOTCH1, NOTCH2
1010.0NOTCH2, NOTCH1, DLL3, JAG1
11
Hide members
9.9HEY2, MFNG, JAG1, NOTCH1
12
Hide members
9.9RFNG, NOTCH2, NOTCH1, MFNG
139.8HEY2, DLL3, NOTCH1, NOTCH2, TWIST1
149.7MFNG, JAG1, DLL3, NOTCH1, NOTCH2, RFNG
15
Hide members
9.7HEY2, MFNG, JAG1, NOTCH1, NOTCH2, RFNG
16
Hide members
9.5RFNG, HEY2, MFNG, JAG1, DLL3, NOTCH1

Compounds for genes affiliated with Alagille Syndrome

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Alagille Syndrome according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1pdpc4410.5LCAT, APOA1
2plpc4410.5LCAT, APOA1
3torcetrapib4410.5LCAT, APOA1
4dimyristoylphosphatidylcholine4410.4LPA, APOA1, LCAT
5cholesterol ester4410.4LPA, APOA1, LCAT
6bezafibrate44 28 1112.4ABCB4, LPA, APOA1, LCAT
7taurocholate4410.3ABCB4, ATP8B1, APOA1
8p-opc4410.3APOA1, LCAT
9pravastatin44 49 28 11 2414.2LCAT, APOA1, LPA
10phosphatidylcholine4410.2LCAT, APOA1, LPA, NRP1, ABCB4
11atorvastatin44 49 28 11 2414.2LPA, APOA1, LCAT
12retinyl palmitate44 2411.0APOA1, LCAT
13cholesterol44 28 11 2413.0LCAT, APOA1, LPA, ATP8B1, NRP1, ABCB4
14phospholipid449.9LCAT, APOA1, NRP1, ABCB4
15estrogen449.9LCAT, APOA1, LPA, NRP1, ABCB4, NOTCH1
16lipid449.8LCAT, APOA1, LPA, ATP8B1, NRP1, ABCB4

GO Terms for genes affiliated with Alagille Syndrome

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16Gene Ontology
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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

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Sources for Alagille Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet