MCID: ALG002
MIFTS: 72

Alagille Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Liver diseases, Nephrological diseases, Fetal diseases, Gastrointestinal diseases

Aliases & Classifications for Alagille Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 34LifeMap Discovery®, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Alagille Syndrome:

Name: Alagille Syndrome 51 34 11 70 23 47 24 25 53 69 12 49 38 13
Arteriohepatic Dysplasia 11 23 47 24 25 53 26
Alagille-Watson Syndrome 11 47 25 53 69
Alagille Syndrome 1 51 69 26 67
Cholestasis with Peripheral Pulmonary Stenosis 47 25 69
Syndromic Bile Duct Paucity 23 24 53
Hepatic Ductular Hypoplasia 47 25 67
Hepatofacioneurocardiovertebral Syndrome 47 25
Paucity of Interlobular Bile Ducts 47 25
Cardiovertebral Syndrome 47 25
Watson-Miller Syndrome 47 25
Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation 53
Arteriohepatic Dysplasia Due to a Jag1 Point Mutation 53
Alagille-Watson Syndrome Due to a Jag1 Point Mutation 53
 
Syndromic Bile Duct Paucity Due to Monosomy 20p12 53
Arteriohepatic Dysplasia Due to Monosomy 20p12 53
Alagille Syndrome Due to a Jag1 Point Mutation 53
Alagille-Watson Syndrome Due to Monosomy 20p12 53
Alagille Syndrome Due to 20p12 Microdeletion 53
Alagille Syndrome Due to Monosomy 20p12 53
Alagille Syndrome Due to Del(20)(p12) 53
Hypoplasia Hepatic Ductular 47
Watson Alagille Syndrome 47
Alagille's Syndrome 25
Algs1 69
Algs 69
Aws 69

Characteristics:

Orphanet epidemiological data:

53
alagille syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Australia),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age

HPO:

63
alagille syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset, incomplete penetrance

GeneReviews:

23
Penetrance: algs demonstrates highly variable expressivity with clinical features ranging from subclinical to severe...


Classifications:



External Ids:

OMIM51 118450
Disease Ontology11 DOID:9245
ICD1029 Q44.7
MeSH38 D016738
NCIt44 C35139
SNOMED-CT61 31742004
UMLS via Orphanet68 C0085280
MESH via Orphanet39 D016738
ICD10 via Orphanet30 Q44.7

Summaries for Alagille Syndrome

About this section
OMIM:51 Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic... (118450) more...

MalaCards based summary: Alagille Syndrome, also known as arteriohepatic dysplasia, is related to alagille syndrome 2 and jag1-related alagille syndrome, and has symptoms including biliary tract abnormality, corneal dystrophy and ventricular septal defect. An important gene associated with Alagille Syndrome is JAG1 (Jagged 1), and among its related pathways are Dorso-ventral axis formation and Angiogenesis (CST). Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

Disease Ontology:11 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:25 Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.

NIH Rare Diseases:47 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

UniProtKB/Swiss-Prot:69 Alagille syndrome 1: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.

Wikipedia:70 Alagille syndrome or ALGS, is an autosomal dominant genetic disorder that affects the liver, heart,... more...

GeneReviews for NBK1273

Related Diseases for Alagille Syndrome

About this section

Diseases in the Alagille Syndrome family:

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

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1alagille syndrome 212.2
2jag1-related alagille syndrome11.9
3notch2-related alagille syndrome11.9
4hardikar syndrome10.8
5biliary atresia, extrahepatic10.8
6intellectual disability-developmental delay-contractures syndrome10.5APOA1, LCAT
7lipoprotein glomerulopathy10.5APOE, LCAT
8degos 'en cocarde' erythrokeratoderma10.4APOE, LCAT
9dermal unilateral segmental cavernous angioma10.4APOE, LPA
10tyrosinemia, type ii10.4APOA1, LCAT
11respiratory syncytial virus infectious disease10.3APOE, LPA
12interstitial cystitis10.3APOE, EGF, JAG1
13amelogenesis imperfecta, type iia310.3APOA1, APOE
14wolfram syndrome 210.3APOA1, APOE, LCAT
15c1s deficiency10.3APOC2, APOE
16alzheimer disease 19, late onset10.3APOE, LCAT, LPA
17rubinstein taybi like syndrome10.2APOA1, APOE, LPA
18glossopharyngeal nerve neoplasm10.2APOA1, APOE, LPA
19hyperlipidemia, familial combined10.2APOA1, APOC3, LCAT
20fetal methyl mercury syndrome10.2APOA1, LCAT
21iron metabolism disease10.1APOA1, APOE, LPA
22mirage syndrome10.1JAG1, NOTCH1, NOTCH2
23cholestasis10.1
24littre gland carcinoma10.1APOA1, APOE, LPA
25blue toe syndrome10.1APOC2, LCAT
26hajdu-cheney syndrome10.1JAG1, NOTCH1, NOTCH2
27hepatitis10.1
28aneurysm10.1
29testicular trophoblastic tumor10.1HEY2, JAG1, NOTCH1
30pontocerebellar hypoplasia10.1ABCB4, APOA1, APOE
31polyneuropathy10.1APOA1, APOE, LCAT, LPA
32bladder diverticulum10.1APOA1, APOE, LCAT, LPA
33biliary atresia10.0
34obesity, hyperphagia, and developmental delay10.0APOA1, APOE, LCAT, LPA
35chondromalacia10.0EGF, JAG1, NOTCH1
36peripheral artery disease10.0APOA1, APOE, LCAT, LPA
37hepatocellular carcinoma10.0
38neuritis10.0JAG1, NOTCH1
39adrenal rest tumor10.0APOA1, APOE, LPA
40islet cell tumor9.9APOA1, APOE
41liver disease9.9
42cataract 5, multiple types9.9APOA1, APOC3, LCAT, SCARB1
43keratoacanthoma9.9APOA1, APOC3, APOE, LPA
44chorioretinitis9.9
45autoimmune hepatitis9.8APOA1, APOC2, APOE, LPA
46slowed nerve conduction velocity, ad9.8APOE, HEY2, JAG1, NOTCH1
47moyamoya disease9.8
48atherosclerosis9.8
49craniosynostosis9.8
50intrahepatic cholestasis9.8

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

Human phenotypes related to Alagille Syndrome:

 63 53 (show all 85)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 biliary tract abnormality63 hallmark (90%) HP:0001080
2 corneal dystrophy63 53 hallmark (90%) Very frequent (99-80%) HP:0001131
3 ventricular septal defect63 53 hallmark (90%) Very frequent (99-80%) HP:0001629
4 hepatomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0002240
5 coarse facial features63 53 typical (50%) Frequent (79-30%) HP:0000280
6 pointed chin63 53 typical (50%) Frequent (79-30%) HP:0000307
7 round face63 53 typical (50%) Frequent (79-30%) HP:0000311
8 abnormality of the pinna63 typical (50%) HP:0000377
9 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
10 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
11 spina bifida occulta63 53 typical (50%) Frequent (79-30%) HP:0003298
12 abnormal form of the vertebral bodies63 53 typical (50%) Frequent (79-30%) HP:0003312
13 vertebral segmentation defect63 53 typical (50%) Frequent (79-30%) HP:0003422
14 abnormal nasal morphology63 typical (50%) HP:0005105
15 telangiectasia of the skin63 typical (50%) HP:0100585
16 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
17 abnormality of the ureter63 53 occasional (7.5%) Occasional (29-5%) HP:0000069
18 nephrotic syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0000100
19 malar flattening63 occasional (7.5%) HP:0000272
20 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
21 short philtrum63 53 occasional (7.5%) Occasional (29-5%) HP:0000322
22 micrognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000347
23 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
24 deeply set eye63 53 occasional (7.5%) Occasional (29-5%) HP:0000490
25 downslanted palpebral fissures63 53 occasional (7.5%) Occasional (29-5%) HP:0000494
26 abnormality of the pupil63 53 occasional (7.5%) Occasional (29-5%) HP:0000615
27 abnormality of the ribs63 53 occasional (7.5%) Occasional (29-5%) HP:0000772
28 hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0000822
29 atria septal defect63 occasional (7.5%) HP:0001631
30 delayed skeletal maturation63 53 occasional (7.5%) Occasional (29-5%) HP:0002750
31 abnormality of chromosome segregation63 occasional (7.5%) HP:0002916
32 abnormality of the ulna63 occasional (7.5%) HP:0002997
33 clinodactyly of the 5th finger63 53 occasional (7.5%) Occasional (29-5%) HP:0004209
34 abnormality of the pulmonary artery63 occasional (7.5%) HP:0004414
35 renal hypoplasia/aplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0008678
36 short distal phalanx of finger63 53 occasional (7.5%) Occasional (29-5%) HP:0009882
37 cognitive impairment63 occasional (7.5%) HP:0100543
38 decreased corneal thickness63 occasional (7.5%) HP:0100689
39 vesicoureteral reflux63 HP:0000076
40 renal hypoplasia63 HP:0000089
41 renal dysplasia63 HP:0000110
42 triangular face63 HP:0000325
43 broad forehead63 HP:0000337
44 macrotia63 HP:0000400
45 microcornea63 HP:0000482
46 cataract63 HP:0000518
47 chorioretinal atrophy63 HP:0000533
48 myopia63 HP:0000545
49 upslanted palpebral fissure63 HP:0000582
50 band keratopathy63 HP:0000585
51 posterior embryotoxon63 HP:0000627
52 intellectual disability, mild63 53 Occasional (29-5%) HP:0001256
53 areflexia63 HP:0001284
54 stroke63 HP:0001297
55 specific learning disability63 53 Occasional (29-5%) HP:0001328
56 cirrhosis63 HP:0001394
57 hepatocellular carcinoma63 HP:0001402
58 axenfeld anomaly63 HP:0001492
59 failure to thrive63 53 Very frequent (99-80%) HP:0001508
60 tetralogy of fallot63 HP:0001636
61 coarctation of aorta63 HP:0001680
62 exocrine pancreatic insufficiency63 HP:0001738
63 renal tubular acidosis63 HP:0001947
64 hypertriglyceridemia63 HP:0002155
65 papillary thyroid carcinoma63 HP:0002895
66 elevated hepatic transaminases63 HP:0002910
67 hemivertebrae63 HP:0002937
68 hypoplasia of the ulna63 53 Occasional (29-5%) HP:0003022
69 hypercholesterolemia63 HP:0003124
70 long nose63 53 Frequent (79-30%) HP:0003189
71 butterfly vertebral arch63 53 Frequent (79-30%) HP:0004617
72 peripheral pulmonary artery stenosis63 53 Occasional (29-5%) HP:0004969
73 depressed nasal bridge63 HP:0005280
74 reduced number of intrahepatic bile ducts63 53 Very frequent (99-80%) HP:0006571
75 prolonged neonatal jaundice63 HP:0006579
76 pigmentary retinal deposits63 HP:0007702
77 multiple small medullary renal cysts63 HP:0008659
78 brachycephaly53 Occasional (29-5%)
79 protruding ear53 Frequent (79-30%)
80 keratoconus53 Occasional (29-5%)
81 delayed puberty53 Occasional (29-5%)
82 cholestasis53 Very frequent (99-80%)
83 defect in the atrial septum53 Occasional (29-5%)
84 flat face53 Occasional (29-5%)
85 teleangiectasia of the skin53 Frequent (79-30%)

Drugs & Therapeutics for Alagille Syndrome

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Drugs for Alagille Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and SaltsPhase 2102
2Liver ExtractsPhase 23868
3Cholestyramine ResinPhase 116
4Lipid Regulating AgentsPhase 12702
5Hypolipidemic AgentsPhase 12721
6Anticholesteremic AgentsPhase 11983
7AntimetabolitesPhase 111774
8ColaNutraceuticalPhase 11881
9
Magnesium Sulfateapproved, vet_approved1687487-88-924083
Synonyms:
(C10-C16) Alkylalcohol sulfuric acid, magnesium salt
00627_FLUKA
10028-26-9
10034-99-8 (heptahydrate)
13143_RIEDEL
13143_SIAL
139939-75-6
18939-43-0
203726_ALDRICH
208094_SIAL
34276_FLUKA
34276_RIEDEL
38146_FLUKA
38146_RIEDEL
63126_FLUKA
63136_FLUKA
63136_SIAL
63139_FLUKA
63139_SIAL
68081-97-0
7487-88-9
AC1L2N76
AC1LAX36
AC1Q1U66
AI3-02029
Bitter salt
C10-C16 Alkyl alcohol sulfuric acid magnesium salt
CCRIS 8411
CHEBI:32599
CID24083
CPD0-2390
Caswell No. 534
D008278
DB00653
EINECS 231-298-2
EINECS 233-073-4
EINECS 242-691-3
EINECS 268-365-0
EPA Pesticide Chemical Code 050503
Epsom salt
HSDB 664
Hair salt
Heptahydrate Magnesium Sulfate
Kieserite [as monohydrate]
LS-88605
M2643_SIGMA
M3409_SIGMA
 
M7506_SIAL
M8150_SIGMA
MAGNESIUM SULFATE
Magnesium Sulfate In Plastic Container
Magnesium Sulfate, Heptahydrate
Magnesium Sulphate Hydrate
Magnesium bisulfate
Magnesium hydrogensulphate
Magnesium sulfate
Magnesium sulfate (1:1)
Magnesium sulfate anhydrous
Magnesium sulfate dried
Magnesium sulfate heptahydrate
Magnesium sulfate hexahydrate
Magnesium sulfate in dextrose 5% in plastic container
Magnesium sulfate solution
Magnesium sulphate
Magnesium sulphate anhydrous
Magnesium sulphate dried
Magnesium sulphate heptahydrate
Magnesium(II) sulfate
Magnesium(ii) sulfate
Magnesiumsulfat
MgSO4
MolPort-003-925-000
NSC 146179
OT-S
OT-S (drying agent)
SDA 15-062-07
Sal Angalis
Sal De sedlitz
Sal amarum
Sal anglicum
Sal catharticum
Sal seidlitense
Salts of england
Sel d'angleterre
Sulfate, Magnesium
Sulfuric acid magnesium salt
Sulfuric acid magnesium salt (1:1)
Sulfuric acid magnesium salt (VAN)
Sulfuric acid, C10-16 alkyl ester, magnesium salt
Sulfuric acid, magnesium salt
Sulfuric acid, magnesium salt (1:1)
Sulfuric acid, mono-C10-16-alkyl esters, magnesium salts
Tomix OT
UNII-DE08037SAB
UNII-ML30MJ2U7I
magnesium(2+) ion sulfate
10
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
11Central Nervous System Depressants12806
12Tocolytic Agents708
13Peripheral Nervous System Agents22776
14Calcium, Dietary5525
15Analgesics11287
16Anesthetics9001
17Anti-Arrhythmia Agents2969
18Anticonvulsants2620
19calcium channel blockers1940
20pancreatin935
21Protein C Inhibitor97
22Alpha 1-Antitrypsin99
23Serine Proteinase Inhibitors850
24Trypsin Inhibitors122
25HIV Protease Inhibitors5319
26Hematinics1630
27
protease inhibitors5320
Synonyms:
 
protease inhibitors
28serineNutraceutical921

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Evaluation of LUM001 in the Reduction of Pruritus in Alagille SyndromeCompletedNCT02057692Phase 2
2Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille SyndromeCompletedNCT01903460Phase 2
3An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Pediatric Subjects With Alagille SyndromeActive, not recruitingNCT02117713Phase 2
4A Long-Term, Open-Label Study of LUM001 With a Double-Blind, Placebo Controlled, Randomized Drug Withdrawal Period to Evaluate Safety and Efficacy in Children With Alagille SyndromeActive, not recruitingNCT02160782Phase 2
5An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Subjects With Alagille Syndrome (ALGS)Active, not recruitingNCT02047318Phase 2
6A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384CompletedNCT02963077Phase 1
7Positional Cloning of the Gene(s) Responsible for Alagille SyndromeCompletedNCT00001642
8Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver DiseaseCompletedNCT02131623
9Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver DiseaseCompletedNCT00007033
10Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record ReviewRecruitingNCT01515631
11Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)RecruitingNCT00571272
12Shear Wave Sonoelastography in Pediatric Liver FibrosisRecruitingNCT02372682
13FibroScan™ in Pediatric Cholestatic Liver Disease Study ProtocolNot yet recruitingNCT02922751

Search NIH Clinical Center for Alagille Syndrome


Cochrane evidence based reviews: alagille syndrome

Genetic Tests for Alagille Syndrome

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Genetic tests related to Alagille Syndrome:

id Genetic test Affiliating Genes
1 Alagille Syndrome 126
2 Arteriohepatic Dysplasia26
3 Alagille Syndrome24 JAG1, NOTCH2

Anatomical Context for Alagille Syndrome

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MalaCards organs/tissues related to Alagille Syndrome:

35
Liver, Heart, Kidney, Eye, Skin, Thyroid, Bone

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5ABCB4, APOE, EGF, JAG1, NOTCH1, NOTCH2
2MP:00053797.7ABCB4, APOA1, APOE, EGF, JAG1, LCAT
3MP:00053697.7APOE, HEY2, JAG1, NOTCH1, NOTCH2, SCARB1
4MP:00053707.4ABCB4, APOA1, APOE, ATP8B1, HEY2, JAG1
5MP:00053857.2ABCB4, APOA1, APOE, HEY2, JAG1, LCAT
6MP:00053766.9ABCB4, APOA1, APOC2, APOE, ATP8B1, HEY2

Publications for Alagille Syndrome

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Articles related to Alagille Syndrome:

(show top 50)    (show all 370)
idTitleAuthorsYear
1
Sleep Mask-like Chorioretinal Atrophy in a Patient With Alagille Syndrome. (27858950)
2016
2
Pretransplant management of basilar artery aneurysm and moyamoya disease in a child with Alagille syndrome. (26043700)
2015
3
Unusual clinical manifestations in a case of Alagille syndrome. (25333075)
2014
4
Impact of Percutaneous Interventions for Pulmonary Artery Stenosis in Alagille Syndrome. (25227273)
2014
5
Management of cholestatic pruritus in paediatric patients with alagille syndrome: the King's college hospital experience. (23619030)
2013
6
A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment. (23898221)
2013
7
Renal anomalies in Alagille syndrome: a disease-defining feature. (22105858)
2012
8
Alagille syndrome: spectrum of clinical presentation in India. (22692667)
2012
9
Alagille syndrome: pathogenesis, diagnosis and management. (21934706)
2012
10
Macrodontic maxillary incisor in alagille syndrome. (23814595)
2012
11
Pancreatic insufficiency is not a prevalent problem in Alagille syndrome. (22614108)
2012
12
NOTCH2 mutations in Alagille syndrome. (22209762)
2012
13
Perthes-like disease in Alagille syndrome. (21642856)
2011
14
Reversible diffuse white matter lesion in Alagille syndrome. (21723462)
2011
15
A Chinese girl molecularly diagnosed with Alagille syndrome. (20706826)
2010
16
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694049)
2009
17
Alagille syndrome associated with myelinated retinal nerve fibers. (19571600)
2009
18
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. (18688871)
2008
19
Rare association of a patient with Alagille syndrome and mitral valve regurgitation. (17721851)
2007
20
The cardiovascular manifestations of Alagille syndrome and JAGI mutations. (16930015)
2006
21
Alagille syndrome and aneurysmal subarachnoid hemorrhage. Case report and review of the literature. (16357504)
2006
22
Severe peripheral pulmonary artery stenosis is not a contraindication to liver transplantation in Alagille syndrome. (16499598)
2006
23
Orthotopic liver transplantation for alagille syndrome. (15848660)
2005
24
Hepatocellular carcinoma in children with Alagille syndrome. (16254531)
2005
25
SR-BI- and ABCA1-mediated cholesterol efflux to serum from patients with Alagille syndrome. (15210845)
2004
26
Bleeding is a risk in alagille syndrome. (12872779)
2003
27
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. (12497640)
2003
28
From gene to disease: arteriohepatic dysplasia or Alagille syndrome]. (12848056)
2003
29
Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients. (11819079)
2002
30
Liver transplantation in an adolescent with Alagille syndrome. (11498144)
2001
31
Hepatic nodular hyperplasia in a boy with Alagille syndrome: CT and MR appearances. (11550772)
2001
32
Alagille syndrome and the Jagged1 gene. (11745040)
2001
33
Abdominal coarctation and Alagille syndrome. (10878178)
2000
34
Apolipoprotein E polymorphism in alagille syndrome and progressive familial intrahepatic cholestasis. (10759233)
2000
35
Jagged-1 mutation analysis in Italian Alagille syndrome patients. (10533065)
1999
36
Alagille syndrome with cavernous carotid artery aneurysm. (10576615)
1999
37
Index of suspicion. Case 1. Alagille syndrome. (10473660)
1999
38
Macromastia in a newborn with Alagille syndrome. (10382209)
1999
39
Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome). (9890073)
1998
40
Renal transplantation in Alagille syndrome. (9481741)
1998
41
Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. (9268641)
1997
42
Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome. (9205123)
1997
43
Middle aortic syndrome in a boy with arteriohepatic dysplasia (Alagille syndrome). (9142719)
1997
44
Abnormal lipoprotein pattern in patients with Alagille syndrome depends on Icterus severity. (8831598)
1996
45
Liver transplantation in children with Alagille syndrome--a study of twelve cases. (7652762)
1995
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
Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. (8501153)
1993
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:

69 (show all 51)
id Symbol AA change Variation ID SNP ID
1JAG1p.Leu37SerVAR_013186rs121918352
2JAG1p.Leu79HisVAR_013187
3JAG1p.Ala127ThrVAR_013188
4JAG1p.Pro129ArgVAR_013189
5JAG1p.Ile152ThrVAR_013190
6JAG1p.Pro163LeuVAR_013191
7JAG1p.Arg184CysVAR_013192rs121918350
8JAG1p.Arg184GlyVAR_013193
9JAG1p.Arg184HisVAR_013194rs121918351
10JAG1p.Arg184LeuVAR_013195
11JAG1p.Cys187SerVAR_013196
12JAG1p.Cys220PheVAR_013197
13JAG1p.Cys229GlyVAR_013198
14JAG1p.Cys229TyrVAR_013199
15JAG1p.Cys284PheVAR_013201
16JAG1p.Trp288CysVAR_013202
17JAG1p.Gly386ArgVAR_013203rs863223650
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_026321rs797044956
42JAG1p.Cys271ArgVAR_026322
43JAG1p.Asn504SerVAR_026323rs527236046
44JAG1p.Cys693TyrVAR_026325rs566563238
45JAG1p.Cys714TyrVAR_026326
46JAG1p.Arg889GlnVAR_026329rs149419694
47JAG1p.Cys902SerVAR_026330
48JAG1p.Cys911TyrVAR_026332
49JAG1p.Ser913ArgVAR_026333
50JAG1p.Arg937GlnVAR_026335rs145895196
51JAG1p.Cys436TrpVAR_071513

Clinvar genetic disease variations for Alagille Syndrome:

5 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1JAG1NM_000214.2(JAG1): c.1511A> G (p.Asn504Ser)SNVLikely pathogenicrs527236046GRCh37Chr 20, 10629255: 10629255
2JAG1NM_000214.2(JAG1): c.2122_2125delCAGT (p.Gln708Valfs)deletionPathogenicrs727504412GRCh37Chr 20, 10625893: 10625896
3JAG1NM_000214.2(JAG1): c.1326G> A (p.Trp442Ter)SNVPathogenicrs794726974GRCh37Chr 20, 10630192: 10630192
4JAG1NM_000214.2(JAG1): c.1207C> T (p.Gln403Ter)SNVPathogenicrs794727953GRCh38Chr 20, 10650274: 10650274
5JAG1NM_000214.2(JAG1): c.703C> T (p.Arg235Ter)SNVPathogenicrs876660980GRCh37Chr 20, 10637098: 10637098
6JAG1NM_000214.2(JAG1): c.2895dupT (p.Asn966Terfs)duplicationPathogenicrs878853752GRCh38Chr 20, 10641481: 10641481
7JAG1NM_000214.2(JAG1): c.2342dupA (p.Asn782Glufs)duplicationPathogenicrs886039887GRCh37Chr 20, 10625513: 10625513
8JAG1NM_000214.2(JAG1): c.2728dupG (p.Glu910Glyfs)duplicationPathogenicrs886042155GRCh37Chr 20, 10622296: 10622296
9JAG1NM_000214.2(JAG1): c.173_176delCCCG (p.Ala58Glyfs)deletionPathogenicrs886043130GRCh37Chr 20, 10653560: 10653563
10JAG1NM_000214.2(JAG1): c.1056_1057insACAACAGAGGCAGCTGTAAG (p.Glu353Thrfs)insertionPathogenicrs886043451GRCh37Chr 20, 10632292: 10632293
11JAG1NM_000214.2(JAG1): c.841C> T (p.Gln281Ter)SNVPathogenicrs886043603GRCh37Chr 20, 10633161: 10633161
12JAG1NM_000214.2(JAG1): c.2270dupG (p.Thr758Hisfs)duplicationPathogenicrs886043605GRCh37Chr 20, 10625585: 10625585
13JAG1NM_000214.2(JAG1): c.439C> T (p.Gln147Ter)SNVPathogenicrs886043606GRCh37Chr 20, 10644611: 10644611
14JAG1NM_000214.2(JAG1): c.2706C> A (p.Cys902Ter)SNVPathogenicrs886043869GRCh37Chr 20, 10622318: 10622318
15JAG1NM_000214.2(JAG1): c.2310C> A (p.Cys770Ter)SNVPathogenicrs886043904GRCh37Chr 20, 10625545: 10625545
16JAG1NM_000214.2(JAG1): c.390dupG (p.Ser131Valfs)duplicationPathogenicrs886044111GRCh37Chr 20, 10644660: 10644660
17JAG1NM_000214.2(JAG1): c.2122C> T (p.Gln708Ter)SNVPathogenicrs886044136GRCh37Chr 20, 10625896: 10625896
18JAG1NM_000214.2(JAG1): c.1395+3A> GSNVPathogenicrs886044220GRCh37Chr 20, 10629706: 10629706
19JAG1NM_000214.2(JAG1): c.1720+1delGdeletionPathogenicrs886044349GRCh37Chr 20, 10628607: 10628607
20JAG1indelPathogenicGRCh37Chr 20, 10623156: 10623178
21JAG1NM_000214.2(JAG1): c.1218_1219insGA (p.Lys407Glufs)insertionPathogenicrs886044604GRCh37Chr 20, 10630910: 10630911
22JAG1JAG1, 2-BP DEL, 3098GTdeletionPathogenicChr na, -1: -1
23JAG1JAG1, IVS23DS, G-C, +1SNVPathogenicChr na, -1: -1
24JAG1JAG1, 2-BP DEL, 1104AGdeletionPathogenicChr na, -1: -1
25JAG1JAG1, 1-BP DEL, 2066CdeletionPathogenicChr na, -1: -1
26JAG1NM_000214.2(JAG1): c.550C> T (p.Arg184Cys)SNVPathogenicrs121918350GRCh37Chr 20, 10639260: 10639260
27JAG1NM_000214.2(JAG1): c.551G> A (p.Arg184His)SNVLikely pathogenic, Pathogenicrs121918351GRCh37Chr 20, 10639259: 10639259
28JAG1JAG1, 5-BP DELdeletionPathogenicChr na, -1: -1
29JAG1JAG1, 1-BP INS, 1618CinsertionPathogenicChr na, -1: -1
30JAG1JAG1, 1-BP INS, 684GinsertionPathogenicChr na, -1: -1
31JAG1NM_000214.2(JAG1): c.110T> C (p.Leu37Ser)SNVPathogenicrs121918352GRCh37Chr 20, 10653626: 10653626
32JAG1JAG1, 2-BP DEL, 1485CTdeletionPathogenicChr na, -1: -1
33JAG1JAG1, 1329, T-G, +2SNVPathogenicChr na, -1: -1

Copy number variations for Alagille Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1150534201057908810584793DeletionJAG1Alagille syndrome
215492120500000017800000MicrodeletionAlagille syndrome
315498420510000025600000DeletionAlagille syndrome

Expression for genes affiliated with Alagille Syndrome

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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 Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
110.0NOTCH1, NOTCH2
2
Show member pathways
9.8JAG1, NOTCH1, NOTCH2
3
Show member pathways
9.8JAG1, NOTCH1, NOTCH2
49.7EGF, NOTCH1, NOTCH2
59.4APOA1, SCARB1
69.4HEY2, NOTCH1, TWIST1
79.2HEY2, NOTCH1, NOTCH2, TWIST1
8
Show member pathways
9.1EGF, HEY2, JAG1, NOTCH1, NOTCH2
9
Show member pathways
8.6APOA1, APOE, SCARB1
10
Show member pathways
8.6APOA1, APOE, SCARB1
11
Show member pathways
8.1APOA1, APOC2, APOC3, APOE
12
Show member pathways
8.1APOA1, APOC2, APOC3, APOE
13
Show member pathways
7.4APOA1, APOC2, APOC3, APOE, LCAT, SCARB1
14
Show member pathways
7.0APOA1, APOC2, APOC3, APOE, LCAT, LPA

GO Terms for genes affiliated with Alagille Syndrome

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Cellular components related to Alagille Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:004323510.2EGF, NOTCH1, NOTCH2
2low-density lipoprotein particleGO:00343629.9APOC2, APOE
3endocytic vesicle lumenGO:00716829.7APOA1, APOE
4spherical high-density lipoprotein particleGO:00343669.5APOA1, APOC2, APOC3
5apical plasma membraneGO:00163249.5ABCB4, ATP8B1, JAG1, NOTCH1
6intermediate-density lipoprotein particleGO:00343639.4APOC2, APOC3, APOE
7high-density lipoprotein particleGO:00343649.4APOA1, APOE, LCAT
8chylomicronGO:00426278.8APOA1, APOC2, APOC3, APOE
9very-low-density lipoprotein particleGO:00343618.8APOA1, APOC2, APOC3, APOE
10early endosomeGO:00057698.5APOA1, APOC2, APOC3, APOE
11extracellular spaceGO:00056157.5APOA1, APOC2, APOC3, APOE, EGF, LCAT
12extracellular exosomeGO:00700626.7ABCB4, APOA1, APOC2, APOC3, APOE, EGF
13extracellular regionGO:00055766.5APOA1, APOC2, APOC3, APOE, EGF, JAG1

Biological processes related to Alagille Syndrome according to GeneCards Suite gene sharing:

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1distal tubule developmentGO:007201710.5JAG1, NOTCH1
2regulation of auditory receptor cell differentiationGO:004560710.5HEY2, NOTCH1
3response to muramyl dipeptideGO:003249510.5JAG1, NOTCH1
4negative regulation of stem cell differentiationGO:200073710.5JAG1, NOTCH1
5arterial endothelial cell differentiationGO:006084210.5HEY2, NOTCH1
6cardiac right ventricle morphogenesisGO:000321510.5HEY2, JAG1
7cardiac vascular smooth muscle cell developmentGO:006094810.4HEY2, NOTCH1
8cardiac epithelial to mesenchymal transitionGO:006031710.4HEY2, NOTCH1
9mesenchymal cell developmentGO:001403110.4HEY2, NOTCH1
10pulmonary artery morphogenesisGO:006115610.4HEY2, JAG1
11cardiac left ventricle morphogenesisGO:000321410.3HEY2, NOTCH1
12atrial septum morphogenesisGO:006041310.3HEY2, NOTCH2
13cardiac neural crest cell development involved in outflow tract morphogenesisGO:006130910.3JAG1, TWIST1
14aortic valve morphogenesisGO:000318010.2NOTCH1, TWIST1
15negative regulation of lipid metabolic processGO:004583310.1APOC2, APOC3
16negative regulation of very-low-density lipoprotein particle clearanceGO:001091610.1APOC2, APOC3
17negative regulation of receptor-mediated endocytosisGO:004826110.1APOC2, APOC3
18negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.0APOA1, APOC3
19blood vessel endothelial cell migrationGO:004353410.0APOA1, SCARB1
20positive regulation of triglyceride catabolic processGO:001089810.0APOA1, APOC2
21pulmonary valve morphogenesisGO:000318410.0HEY2, JAG1, NOTCH1, NOTCH2
22positive regulation of lipoprotein lipase activityGO:00510069.9APOA1, APOC2
23cholesterol importGO:00705089.9APOA1, SCARB1
24cardiac ventricle morphogenesisGO:00032089.9HEY2, NOTCH1
25positive regulation of triglyceride biosynthetic processGO:00108679.9APOC3, SCARB1
26cardiac septum morphogenesisGO:00604119.9HEY2, JAG1, NOTCH1
27positive regulation of fatty acid biosynthetic processGO:00457239.9APOA1, APOC2
28positive regulation of cholesterol esterificationGO:00108739.7APOA1, APOE
29high-density lipoprotein particle assemblyGO:00343809.6APOA1, APOE
30cholesterol transportGO:00303019.6APOA1, LCAT, SCARB1
31negative regulation of cell differentiationGO:00455969.6JAG1, NOTCH1, TWIST1
32cholesterol catabolic processGO:00067079.6APOE, SCARB1
33neuron projection regenerationGO:00311029.6APOA1, APOE
34Notch signaling pathwayGO:00072199.4HEY2, JAG1, NOTCH1, NOTCH2
35lipoprotein biosynthetic processGO:00421589.3APOA1, APOE, LCAT
36very-low-density lipoprotein particle remodelingGO:00343729.3APOC2, APOE, LCAT
37chylomicron remnant clearanceGO:00343829.3APOC2, APOC3, APOE
38regulation of Cdc42 protein signal transductionGO:00324899.2APOA1, APOC3, APOE
39Notch signaling involved in heart developmentGO:00613149.1HEY2, JAG1, NOTCH1, NOTCH2
40cholesterol metabolic processGO:00082039.0APOA1, APOE, LCAT
41triglyceride homeostasisGO:00703288.9APOA1, APOC2, APOC3, SCARB1
42triglyceride catabolic processGO:00194338.9APOA1, APOC3, APOE
43high-density lipoprotein particle clearanceGO:00343848.7APOA1, APOC2, APOE, SCARB1
44phospholipid effluxGO:00337008.7APOA1, APOC2, APOC3, APOE
45high-density lipoprotein particle remodelingGO:00343758.3APOA1, APOC3, APOE, LCAT, SCARB1
46retinoid metabolic processGO:00015238.2APOA1, APOC2, APOC3, APOE
47cholesterol effluxGO:00333448.2APOA1, APOC2, APOC3, APOE, SCARB1
48reverse cholesterol transportGO:00436917.8APOA1, APOC2, APOC3, APOE, LCAT, SCARB1
49cholesterol homeostasisGO:00426327.6APOA1, APOC2, APOC3, APOE, LCAT, SCARB1
50lipoprotein metabolic processGO:00421577.4APOA1, APOC2, APOC3, APOE, LCAT, LPA

Molecular functions related to Alagille Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein A-I bindingGO:003418610.4LCAT, SCARB1
2apolipoprotein bindingGO:003418510.3LPA, SCARB1
3Notch bindingGO:000511210.2JAG1, NOTCH1
4high-density lipoprotein particle receptor bindingGO:007065310.1APOA1, APOC3
5high-density lipoprotein particle bindingGO:000803510.0APOA1, SCARB1
6phospholipid transporter activityGO:000554810.0ABCB4, APOA1
7phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.7APOA1, APOE
8lipoprotein particle bindingGO:00718139.6APOA1, APOE
9cholesterol transporter activityGO:00171279.6APOA1, APOE
10lipase inhibitor activityGO:00551029.5APOA1, APOC2, APOC3
11lipid transporter activityGO:00053199.3APOA1, APOE, ATP8B1
12cholesterol bindingGO:00154859.1APOA1, APOC3, APOE
13phospholipid bindingGO:00055439.0APOA1, APOC3, APOE
14lipid bindingGO:00082898.6APOA1, APOC2, APOE
15protein homodimerization activityGO:00428037.9APOC2, APOE, HEY2, SCARB1, TWIST1

Sources for Alagille Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet