MCID: ALG002
MIFTS: 81

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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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 based summary: Alagille Syndrome, also known as arteriohepatic dysplasia, is related to biliary atresia and hypertension, and has symptoms including corneal dystrophy, intrahepatic biliary tract atresia/obstruction and hepatitis/icterus/cholestasis. 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, heart and kidney, 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...

Descriptions from OMIM:46 118450,610205

GeneReviews summary for alagille

Aliases & Classifications for Alagille Syndrome

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Alagille Syndrome, Aliases & Descriptions:

Name: Alagille Syndrome 30 8 9 65 19 42 20 21 46 10 44 48
Arteriohepatic Dysplasia 8 19 42 22 21 48
Alagille-Watson Syndrome 8 42 21 48
Paucity of Interlobular Bile Ducts 42 21 62
Hepatic Ductular Hypoplasia 42 21 62
Cholestasis with Peripheral Pulmonary Stenosis 42 21
Hepatofacioneurocardiovertebral Syndrome 42 21
Syndromic Bile Duct Paucity 19 48
Cardiovertebral Syndrome 42 21
Watson-Miller 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
Arteriohepatic Dysplasia Due to Monosomy 20p12 48
Alagille Syndrome Due to a Jag1 Point Mutation 48
Alagille-Watson Syndrome Due to Monosomy 20p12 48
Alagille Syndrome Due to 20p12 Microdeletion 48
Cafe-Au-Lait Macules with Pulmonary Stenosis 62
Alagille Syndrome Due to Monosomy 20p12 48
Alagille Syndrome Due to Del(20)(p12) 48
Hypoplasia Hepatic Ductular 42
Watson Alagille Syndrome 42
Alagille's Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:9245
MeSH34 D016738
NCIt39 C35139
SNOMED-CT57 31742004
ICD10 via Orphanet26 Q44.7
UMLS via Orphanet63 C0085280
MESH via Orphanet35 D016738

Related Diseases for Alagille Syndrome

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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
1biliary atresia31.0ATP8B1
2hypertension30.4NOTCH1, LPA, APOA1
3cholestasis30.2ABCB4, ATP8B1, JAG1, LCAT, NOTCH2
4hypercholesterolemia30.1APOA1, LPA, LCAT
5intrahepatic cholestasis30.1ABCB4, ATP8B1, JAG1
6exocrine pancreatic insufficiency10.5
7prune belly syndrome10.5
8aneurysm10.4
9hepatitis10.4
10hepatocellular carcinoma10.4
11alagille syndrome 210.3
12watson syndrome10.3
13hypoalphalipoproteinemia10.2APOA1, LCAT
14arcus senilis10.2APOA1, LCAT
15fish-eye disease10.2APOA1, LCAT
16norum disease10.2APOA1, LCAT
17hypobetalipoproteinemia10.2APOA1, LCAT
18aortic valve disease10.2NOTCH1
19hyperalphalipoproteinemia10.2APOA1, LCAT
20biliary hypoplasia10.2
21keratoderma10.2
22craniosynostosis10.2
23liver disease10.2
24cerebritis10.2
25intracranial hypertension10.2
26retinitis10.2
27jag1-related alagille syndrome10.2
28notch2-related alagille syndrome10.2
29cerebral aneurysms10.2
30hyperlipidemia type 310.2APOA1, LPA
31abetalipoproteinemia10.2APOA1, LCAT
32peripheral vascular disease10.2APOA1, LPA
33coronary stenosis10.2APOA1, LPA
34cholestasis, progressive familial intrahepatic 210.2ABCB4, ATP8B1
35cadasil10.1NOTCH1, JAG1
36primary sclerosing cholangitis10.1JAG1, ABCB4
37complete lcat deficiency10.1LCAT, LPA, APOA1
38amyloidosis, secondary10.1LCAT, LPA, APOA1
39tangier disease10.0LCAT, LPA, APOA1
40familial hypercholesterolemia10.0APOA1, LPA, LCAT
41atherosclerosis10.0
42diabetes mellitus10.0
43granuloma annulare10.0
44wilson disease10.0
45wolff-parkinson-white syndrome10.0
46renovascular hypertension10.0
47median neuropathy10.0
48patent ductus arteriosus10.0
49erythropoietic protoporphyria10.0
50moyamoya disease10.0

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



Diseases related to alagille syndrome

Symptoms for Alagille Syndrome

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Symptoms by clinical synopsis from OMIM:

118450

Clinical features from OMIM:

118450,610205

Symptoms:

48 (show all 43)
  • corneal dystrophy
  • intrahepatic biliary tract atresia/obstruction
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • ventricular septal defect/interventricular communication
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • frontal bossing/prominent forehead
  • round face
  • coarse face
  • pointed chin
  • long/large/bulbous nose
  • prominent/bat ears
  • spina bifida occulta
  • abnormal vertebral size/shape
  • vertebral segmentation anomaly/hemivertebrae
  • telangiectasiae of the skin
  • intrauterine growth retardation
  • brachycephaly/flat occiput
  • flat face
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • deepset eyes/enophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • keratoconus/keratoglobus
  • strabismus/squint
  • short philtrum
  • anomalies of the ribs
  • 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

HPO human phenotypes related to Alagille Syndrome:

(show all 87)
id Description Frequency HPO Source Accession
1 biliary tract abnormality hallmark (90%) HP:0001080
2 corneal dystrophy hallmark (90%) HP:0001131
3 ventricular septal defect hallmark (90%) HP:0001629
4 hepatomegaly hallmark (90%) HP:0002240
5 coarse facial features typical (50%) HP:0000280
6 pointed chin typical (50%) HP:0000307
7 round face typical (50%) HP:0000311
8 abnormality of the pinna typical (50%) HP:0000377
9 intrauterine growth retardation typical (50%) HP:0001511
10 frontal bossing typical (50%) HP:0002007
11 spina bifida occulta typical (50%) HP:0003298
12 abnormal form of the vertebral bodies typical (50%) HP:0003312
13 vertebral segmentation defect typical (50%) HP:0003422
14 abnormal nasal morphology typical (50%) HP:0005105
15 teleangiectasia of the skin typical (50%) HP:0100585
16 cryptorchidism occasional (7.5%) HP:0000028
17 abnormality of the ureter occasional (7.5%) HP:0000069
18 nephrotic syndrome occasional (7.5%) HP:0000100
19 malar flattening occasional (7.5%) HP:0000272
20 hypertelorism occasional (7.5%) HP:0000316
21 short philtrum occasional (7.5%) HP:0000322
22 micrognathia occasional (7.5%) HP:0000347
23 strabismus occasional (7.5%) HP:0000486
24 deeply set eye occasional (7.5%) HP:0000490
25 downslanted palpebral fissures occasional (7.5%) HP:0000494
26 abnormality of the pupil occasional (7.5%) HP:0000615
27 abnormality of the ribs occasional (7.5%) HP:0000772
28 hypertension occasional (7.5%) HP:0000822
29 defect in the atrial septum occasional (7.5%) HP:0001631
30 delayed skeletal maturation occasional (7.5%) HP:0002750
31 abnormality of chromosome segregation occasional (7.5%) HP:0002916
32 abnormality of the ulna occasional (7.5%) HP:0002997
33 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
34 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
35 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
36 short distal phalanx of finger occasional (7.5%) HP:0009882
37 cognitive impairment occasional (7.5%) HP:0100543
38 decreased corneal thickness occasional (7.5%) HP:0100689
39 autosomal dominant inheritance HP:0000006
40 vesicoureteral reflux HP:0000076
41 renal hypoplasia HP:0000089
42 renal dysplasia HP:0000110
43 hypertelorism HP:0000316
44 triangular face HP:0000325
45 broad forehead HP:0000337
46 macrotia HP:0000400
47 microcornea HP:0000482
48 strabismus HP:0000486
49 deeply set eye HP:0000490
50 cataract HP:0000518
51 chorioretinal atrophy HP:0000533
52 myopia HP:0000545
53 upslanted palpebral fissure HP:0000582
54 band keratopathy HP:0000585
55 posterior embryotoxon HP:0000627
56 abnormality of the ribs HP:0000772
57 intellectual disability, mild HP:0001256
58 areflexia HP:0001284
59 stroke HP:0001297
60 specific learning disability HP:0001328
61 cirrhosis HP:0001394
62 hepatocellular carcinoma HP:0001402
63 axenfeld anomaly HP:0001492
64 failure to thrive HP:0001508
65 ventricular septal defect HP:0001629
66 defect in the atrial septum HP:0001631
67 tetralogy of fallot HP:0001636
68 coarctation of aorta HP:0001680
69 exocrine pancreatic insufficiency HP:0001738
70 renal tubular acidosis HP:0001947
71 hypertriglyceridemia HP:0002155
72 papillary thyroid carcinoma HP:0002895
73 elevated hepatic transaminases HP:0002910
74 hemivertebrae HP:0002937
75 hypoplasia of the ulna HP:0003022
76 hypercholesterolemia HP:0003124
77 long nose HP:0003189
78 infantile onset HP:0003593
79 incomplete penetrance HP:0003829
80 butterfly vertebral arch HP:0004617
81 peripheral pulmonary artery stenosis HP:0004969
82 depressed nasal bridge HP:0005280
83 reduced number of intrahepatic bile ducts HP:0006571
84 prolonged neonatal jaundice HP:0006579
85 pigmentary retinal deposits HP:0007702
86 multiple small medullary renal cysts HP:0008659
87 short distal phalanx of finger HP:0009882

Drugs & Therapeutics for Alagille Syndrome

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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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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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MalaCards organs/tissues related to Alagille Syndrome:

32
Liver, Heart, Kidney, Eye, Bone, Testes, Skin, Pancreas, Thyroid, 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

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MGI Mouse Phenotypes related to Alagille Syndrome:

36
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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Articles related to Alagille Syndrome:

(show top 50)    (show all 323)
idTitleAuthorsYear
1
Unusual clinical manifestations in a case of Alagille syndrome. (25333075)
2014
2
Treatment of cardiovascular complications of Alagille syndrome in clinical optimization for liver transplantation. (25091721)
2014
3
Management of cholestatic pruritus in paediatric patients with alagille syndrome: the King's college hospital experience. (23619030)
2013
4
A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment. (23898221)
2013
5
Renal anomalies in Alagille syndrome: a disease-defining feature. (22105858)
2012
6
Alagille syndrome: spectrum of clinical presentation in India. (22692667)
2012
7
Alagille syndrome: pathogenesis, diagnosis and management. (21934706)
2012
8
Macrodontic maxillary incisor in alagille syndrome. (23814595)
2012
9
Pancreatic insufficiency is not a prevalent problem in Alagille syndrome. (22614108)
2012
10
Perthes-like disease in Alagille syndrome. (21642856)
2011
11
Reversible diffuse white matter lesion in Alagille syndrome. (21723462)
2011
12
Hepatocellular carcinoma and regenerating nodule in a 3-year-old child with Alagille syndrome. (20714715)
2010
13
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694048)
2009
14
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694049)
2009
15
Intense pruritus and failure to thrive in Alagille syndrome. (18191720)
2008
16
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. (18688871)
2008
17
Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome. (17661408)
2007
18
Rare association of a patient with Alagille syndrome and mitral valve regurgitation. (17721851)
2007
19
Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. (17786115)
2007
20
Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. (17720887)
2007
21
Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome. (16954958)
2006
22
The cardiovascular manifestations of Alagille syndrome and JAGI mutations. (16930015)
2006
23
Alagille syndrome and aneurysmal subarachnoid hemorrhage. Case report and review of the literature. (16357504)
2006
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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UniProtKB/Swiss-Prot genetic disease variations for Alagille Syndrome:

64 (show all 51)
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
51JAG1p.Cys436TrpVAR_071513

Clinvar genetic disease variations for Alagille Syndrome:

6 (show all 22)
id Gene Name Type Significance SNP ID Assembly Location
1NOTCH2NM_024408.3(NOTCH2): c.1117T> C (p.Cys373Arg)single nucleotide variantPathogenicrs312262793GRCh37Chr 1, 120510847: 120510847
2NOTCH2NM_024408.3(NOTCH2): c.1147C> T (p.Pro383Ser)single nucleotide variantPathogenicrs312262795GRCh37Chr 1, 120510817: 120510817
3NOTCH2NM_024408.3(NOTCH2): c.1180C> T (p.Pro394Ser)single nucleotide variantPathogenicrs312262794GRCh37Chr 1, 120510784: 120510784
4NOTCH2NM_024408.3(NOTCH2): c.1438T> C (p.Cys480Arg)single nucleotide variantPathogenicrs312262799GRCh37Chr 1, 120510071: 120510071
5NOTCH2NM_024408.3(NOTCH2): c.2566_2567delAG (p.Ser856Leufs)deletionPathogenicrs312262800GRCh37Chr 1, 120491662: 120491663
6NOTCH2NM_024408.3(NOTCH2): c.5857C> T (p.Arg1953Cys)single nucleotide variantPathogenicrs312262796GRCh37Chr 1, 120461101: 120461101
7NOTCH2NM_024408.3(NOTCH2): c.5858G> A (p.Arg1953His)single nucleotide variantPathogenicrs312262797GRCh37Chr 1, 120461100: 120461100
8NOTCH2NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter)single nucleotide variantPathogenicrs312262801GRCh37Chr 1, 120460308: 120460308
9JAG1JAG1, 2-BP DEL, 3098GTdeletionPathogenic
10JAG1JAG1, IVS23DS, G-C, +1single nucleotide variantPathogenic
11JAG1JAG1, 2-BP DEL, 1104AGdeletionPathogenic
12JAG1JAG1, 1-BP DEL, 2066CdeletionPathogenic
13JAG1NM_000214.2(JAG1): c.550C> T (p.Arg184Cys)single nucleotide variantPathogenicrs121918350GRCh37Chr 20, 10639260: 10639260
14JAG1NM_000214.2(JAG1): c.551G> A (p.Arg184His)single nucleotide variantPathogenicrs121918351GRCh37Chr 20, 10639259: 10639259
15JAG1JAG1, 5-BP DELdeletionPathogenic
16JAG1JAG1, 1-BP INS, 1618CinsertionPathogenic
17JAG1JAG1, 1-BP INS, 684GinsertionPathogenic
18JAG1NM_000214.2(JAG1): c.110T> C (p.Leu37Ser)single nucleotide variantPathogenicrs121918352GRCh37Chr 20, 10653626: 10653626
19JAG1JAG1, 2-BP DEL, 1485CTdeletionPathogenic
20JAG1JAG1, 1329, T-G, +2single nucleotide variantPathogenic
21NOTCH2NM_024408.3(NOTCH2): c.5930-1G> Asingle nucleotide variantPathogenicrs312262798GRCh37Chr 1, 120460386: 120460386
22NOTCH2NM_024408.3(NOTCH2): c.1331G> A (p.Cys444Tyr)single nucleotide variantPathogenicrs111033632GRCh37Chr 1, 120510178: 120510178

Expression for genes affiliated with Alagille Syndrome

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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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Pathways related to Alagille Syndrome according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5APOA1, LCAT
29.5APOA1, LPA
3
Show member pathways
9.3JAG1, NOTCH1
49.3NOTCH2, NOTCH1
5
Show member pathways
9.1LCAT, LPA, APOA1
68.9NOTCH1, NOTCH2, JAG1
7
Show member pathways
Delta-Notch Signaling Pathway37
Notch Signaling Pathway37
8.9JAG1, NOTCH1, NOTCH2
88.9JAG1, NOTCH2, NOTCH1
9
Show member pathways
8.9NOTCH1, NOTCH2, JAG1
108.9NOTCH1, NOTCH2, JAG1
11
Show member pathways
8.9NOTCH1, NOTCH2, JAG1
12
Show member pathways
Notch signaling pathway37
8.9NOTCH2, NOTCH1, JAG1

Compounds for genes affiliated with Alagille Syndrome

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Alagille Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 1163)
idCompoundScoreTop Affiliating Genes
1pdpc4410.0LCAT, APOA1
2torcetrapib4410.0APOA1, LCAT
3plpc4410.0APOA1, LCAT
4dimyristoylphosphatidylcholine449.5LPA, APOA1, LCAT
5cholesterol ester449.5LCAT, 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
28taurocholate449.2ABCB4, 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
45bezafibrate44 28 1110.9LPA, ABCB4, APOA1, LCAT
46phosphatidylcholine448.9LCAT, 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
49cholesterol44 28 24 1111.4LPA, APOA1, ABCB4, ATP8B1, LCAT
50lipid447.6ATP8B1, NOTCH1, APOA1, LPA, ABCB4, LCAT

GO Terms for genes affiliated with Alagille Syndrome

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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, ATP8B1, ABCB4, JAG1
3extracellular regionGO:0055767.5NOTCH1, NOTCH2, LCAT, LPA, JAG1, APOA1
4plasma membraneGO:0058867.0JAG1, NOTCH1, APOA1, ABCB4, ATP8B1, NOTCH2

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet