MCID: ALG002
MIFTS: 66

Alagille Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Liver diseases, Nephrological diseases, Fetal diseases, Cancer diseases, Gastrointestinal diseases categories

Aliases & Classifications for Alagille Syndrome

About this section
Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 42NCIt, 59SNOMED-CT, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Alagille Syndrome:

Name: Alagille Syndrome 49 32 10 11 68 21 45 22 23 47 12 51 36 67
Arteriohepatic Dysplasia 10 21 45 22 23 51 24
Alagille-Watson Syndrome 10 45 23 51 67
Cholestasis with Peripheral Pulmonary Stenosis 45 23 67
Syndromic Bile Duct Paucity 21 22 51
Hepatic Ductular Hypoplasia 45 23 65
Hepatofacioneurocardiovertebral Syndrome 45 23
Paucity of Interlobular Bile Ducts 45 23
Cardiovertebral Syndrome 45 23
 
Watson-Miller Syndrome 45 23
Alagille Syndrome 1 65 67
Hypoplasia Hepatic Ductular 45
Watson Alagille Syndrome 45
Alagille's Syndrome 23
Algs1 67
Algs 67
Aws 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
alagille syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Australia),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

OMIM49 118450
Disease Ontology10 DOID:9245
NCIt42 C35139
MeSH36 D016738
Orphanet51 52
SNOMED-CT59 31742004
MESH via Orphanet37 D016738
UMLS via Orphanet66 C0085280
ICD10 via Orphanet28 Q44.7

Summaries for Alagille Syndrome

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OMIM:49 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 cholestasis and alagille syndrome 2, 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 Notch Signaling Pathways. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are digestive/alimentary and hematopoietic system.

Disease Ontology:10 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:23 Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.

NIH Rare Diseases:45 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:67 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:68 Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the... more...

GeneReviews summary for alagille

Related Diseases for Alagille Syndrome

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Diseases in the Alagille Syndrome family:

Alagille Syndrome 2 Jag1-Related Alagille Syndrome
Notch2-Related Alagille Syndrome Alagille Syndrome Due to a Jag1 Point Mutation
Alagille Syndrome Due to a Notch2 Point Mutation

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

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis10.7
2alagille syndrome 210.6
3liver disease10.5
4intrahepatic cholestasis10.5
5prune belly syndrome10.5
6exocrine pancreatic insufficiency10.5
7aneurysm10.5
8galactosemia10.5
9child syndrome10.5
10bile duct disease10.5
11biliary tract disease10.5
12congenital heart disease10.5
13kid syndrome10.5
14adult syndrome10.4
15hepatitis10.4
16hepatocellular carcinoma10.4
17jag1-related alagille syndrome10.4
18alagille syndrome due to 20p12 microdeletion10.4
19notch2-related alagille syndrome10.4
20watson syndrome10.3
21west syndrome10.3
22biliary atresia10.3
23alagille syndrome due to a jag1 point mutation10.3
24alagille syndrome due to a notch2 point mutation10.3
25apolipoprotein c 2i deficiency10.2APOA1, LCAT
26biliary hypoplasia10.2
27roberts syndrome10.2
28moyamoya disease10.2
29craniosynostosis10.2
30cerebritis10.2
31chorioretinitis10.2
32intracranial hypertension10.2
33retinitis10.2
34brown syndrome10.2
35young syndrome10.2
36cerebral aneurysms10.2
37nephronophthisis10.2APOA1, LPA
38spinocerebellar ataxia 410.2APOA1, LCAT
39meckel syndrome 1010.2LCAT, LPA
40amyloidosis beta2m10.2APOA1, LCAT, LPA
41tracheal disease10.2
42esophagus carcinoma in situ10.1APOA1, LCAT, LPA
43extensor tendons of finger anomalies10.1ABCA1, APOA1
44hyperphenilalaninemia due to pterin-4-alpha-carbin10.1APOA1, LPA
45hyperlipidemia, familial combined10.1APOA1, APOC3, LCAT
46non 24 hour sleep wake disorder10.1JAG1, NOTCH1, NOTCH2
47hajdu-cheney syndrome10.1JAG1, NOTCH1, NOTCH2
48wolff-parkinson-white syndrome10.0
49coronary heart disease 610.0
50wilson 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

Symptoms:

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and SaltsPhase 280
2
Magnesium Sulfateapproved1437487-88-924083
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 Sal
Epsom Salt
Epsom Salt Magnesium Sulfate
Epsom Salt Soaking Solution
Epsom salt
HSDB 664
Hair salt
Health Smart Natural Epsom Salt
Heptahydrate Magnesium Sulfate
Humco Epson Salt
Kieserite [as monohydrate]
LS-88605
M2643_SIGMA
M3409_SIGMA
 
M7506_SIAL
M8150_SIGMA
MAGNESIUM SULFATE
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
Morton Natural Epsom Salt
NSC 146179
Natural Epsom Salt
OT-S
OT-S (drying agent)
Pepsom Flying P Epsom Salt
Pepsom Salt Peppermint
Royal Epsom Salt
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
3
Pancrelipaseapproved83953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
4Calcium, Dietary3529
5pancreatin839
6Alpha 1-Antitrypsin83
7Protein C Inhibitor81

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille SyndromeCompletedNCT01903460Phase 2
2An 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 SyndromeRecruitingNCT02117713Phase 2
3Evaluation of LUM001 in the Reduction of Pruritus in Alagille SyndromeRecruitingNCT02057692Phase 2
4An 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 SyndromeActive, not recruitingNCT02047318Phase 2
5A 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
6Positional Cloning of the Gene(s) Responsible for Alagille SyndromeCompletedNCT00001642
7Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver DiseaseCompletedNCT00007033
8Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver DiseaseCompletedNCT02131623
9Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record ReviewRecruitingNCT01515631
10Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)RecruitingNCT00571272
11Shear Wave Sonoelastography in Pediatric Liver FibrosisRecruitingNCT02372682

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 Syndrome22 NOTCH2
2 Arteriohepatic Dysplasia24

Anatomical Context for Alagille Syndrome

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MalaCards organs/tissues related to Alagille Syndrome:

33
Liver, Heart, Kidney, Eye, Skin, Bone, Testes

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8ABCA1, ABCB4, EGF, JAG1, NOTCH1, NOTCH2
2MP:00053977.2ABCA1, APOA1, APOC3, JAG1, LCAT, NOTCH1
3MP:00053797.2ABCA1, ABCB4, APOA1, EGF, JAG1, LCAT
4MP:00053856.9ABCA1, ABCB4, APOA1, APOC3, HEY2, JAG1
5MP:00053706.3ABCA1, ABCB4, APOA1, ATP8B1, HEY2, JAG1
6MP:00053876.3ABCA1, ABCB4, APOA1, APOC3, EGF, MME
7MP:00053765.7ABCA1, ABCB4, APOA1, APOC3, ATP8B1, HEY2

Publications for Alagille Syndrome

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Articles related to Alagille Syndrome:

(show top 50)    (show all 348)
idTitleAuthorsYear
1
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. (26076142)
2015
2
Pretransplant management of basilar artery aneurysm and moyamoya disease in a child with Alagille syndrome. (26043700)
2015
3
Subarachnoid hemorrhage due to aneurysm rupture in a young woman with Alagille syndrome - A rare cause of sudden death. (25813756)
2015
4
Unusual clinical manifestations in a case of Alagille syndrome. (25333075)
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
Perthes-like disease in Alagille syndrome. (21642856)
2011
13
Reversible diffuse white matter lesion in Alagille syndrome. (21723462)
2011
14
Hepatocellular carcinoma and regenerating nodule in a 3-year-old child with Alagille syndrome. (20714715)
2010
15
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694048)
2009
16
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694049)
2009
17
Fluctuation of lipoprotein metabolism linked with bile acid-activated liver nuclear receptors in Alagille syndrome. (18430427)
2008
18
Intense pruritus and failure to thrive in Alagille syndrome. (18191720)
2008
19
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. (18688871)
2008
20
Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome. (17661408)
2007
21
Rare association of a patient with Alagille syndrome and mitral valve regurgitation. (17721851)
2007
22
Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. (17786115)
2007
23
Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. (17720887)
2007
24
Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome. (16954958)
2006
25
The cardiovascular manifestations of Alagille syndrome and JAGI mutations. (16930015)
2006
26
Alagille syndrome and aneurysmal subarachnoid hemorrhage. Case report and review of the literature. (16357504)
2006
27
Alagille syndrome with prominent skin manifestations. (16394388)
2005
28
Orthotopic liver transplantation for alagille syndrome. (15848660)
2005
29
Gene symbol: JAG1. Disease: Alagille syndrome. (15988824)
2005
30
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. (14993126)
2004
31
Bleeding is a risk in alagille syndrome. (12872779)
2003
32
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. (12497640)
2003
33
Liver transplantation in an adolescent with Alagille syndrome. (11498144)
2001
34
Hepatic nodular hyperplasia in a boy with Alagille syndrome: CT and MR appearances. (11550772)
2001
35
Alagille syndrome and the Jagged1 gene. (11745040)
2001
36
Abdominal coarctation and Alagille syndrome. (10878178)
2000
37
Jagged-1 mutation analysis in Italian Alagille syndrome patients. (10533065)
1999
38
Alagille syndrome with cavernous carotid artery aneurysm. (10576615)
1999
39
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
40
Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. (10051485)
1999
41
Balloon pulmonary valvuloplasty and stent implantation. For peripheral pulmonary artery stenosis in Alagille syndrome. (9566070)
1998
42
Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome). (9890073)
1998
43
Renal transplantation in Alagille syndrome. (9481741)
1998
44
Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. (9585603)
1998
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:

67 (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:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1JAG1NM_000214.2(JAG1): c.1511A> G (p.Asn504Ser)single nucleotide variantLikely 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)single nucleotide variantPathogenicrs794726974GRCh37Chr 20, 10630192: 10630192
4JAG1NM_000214.2(JAG1): c.1207C> T (p.Gln403Ter)single nucleotide variantPathogenicrs794727953GRCh37Chr 20, 10630922: 10630922
5NOTCH2NM_024408.3(NOTCH2): c.1117T> C (p.Cys373Arg)single nucleotide variantPathogenicrs312262793GRCh37Chr 1, 120510847: 120510847
6NOTCH2NM_024408.3(NOTCH2): c.1147C> T (p.Pro383Ser)single nucleotide variantPathogenicrs312262795GRCh37Chr 1, 120510817: 120510817
7NOTCH2NM_024408.3(NOTCH2): c.1180C> T (p.Pro394Ser)single nucleotide variantPathogenicrs312262794GRCh37Chr 1, 120510784: 120510784
8NOTCH2NM_024408.3(NOTCH2): c.1438T> C (p.Cys480Arg)single nucleotide variantPathogenicrs312262799GRCh37Chr 1, 120510071: 120510071
9NOTCH2NM_024408.3(NOTCH2): c.2566_2567delAG (p.Ser856Leufs)deletionPathogenicrs312262800GRCh37Chr 1, 120491662: 120491663
10NOTCH2NM_024408.3(NOTCH2): c.5857C> T (p.Arg1953Cys)single nucleotide variantPathogenicrs312262796GRCh37Chr 1, 120461101: 120461101
11NOTCH2NM_024408.3(NOTCH2): c.5858G> A (p.Arg1953His)single nucleotide variantPathogenicrs312262797GRCh37Chr 1, 120461100: 120461100
12NOTCH2NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter)single nucleotide variantPathogenicrs312262801GRCh37Chr 1, 120460308: 120460308
13JAG1JAG1, 2-BP DEL, 3098GTdeletionPathogenic
14JAG1JAG1, IVS23DS, G-C, +1single nucleotide variantPathogenic
15JAG1JAG1, 2-BP DEL, 1104AGdeletionPathogenic
16JAG1JAG1, 1-BP DEL, 2066CdeletionPathogenic
17JAG1NM_000214.2(JAG1): c.550C> T (p.Arg184Cys)single nucleotide variantPathogenicrs121918350GRCh37Chr 20, 10639260: 10639260
18JAG1NM_000214.2(JAG1): c.551G> A (p.Arg184His)single nucleotide variantPathogenicrs121918351GRCh37Chr 20, 10639259: 10639259
19JAG1JAG1, 5-BP DELdeletionPathogenic
20JAG1JAG1, 1-BP INS, 1618CinsertionPathogenic
21JAG1JAG1, 1-BP INS, 684GinsertionPathogenic
22JAG1NM_000214.2(JAG1): c.110T> C (p.Leu37Ser)single nucleotide variantPathogenicrs121918352GRCh37Chr 20, 10653626: 10653626
23JAG1JAG1, 2-BP DEL, 1485CTdeletionPathogenic
24JAG1JAG1, 1329, T-G, +2single nucleotide variantPathogenic
25NOTCH2NM_024408.3(NOTCH2): c.5930-1G> Asingle nucleotide variantPathogenicrs312262798GRCh37Chr 1, 120460386: 120460386
26NOTCH2NM_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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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 pathways (with members indented)ScoreTop Affiliating Genes
110.0NOTCH1, NOTCH2
29.8JAG1, NOTCH1, NOTCH2
3
Show member pathways
9.8JAG1, NOTCH1, NOTCH2
4
Notch signaling pathway (Pathway Interaction Database)
Show member pathways
9.8JAG1, NOTCH1, NOTCH2
5
Angiogenesis (CST)
Show member pathways
9.8JAG1, NOTCH1, NOTCH2
69.7HEY2, NOTCH1, NOTCH2
79.4ABCA1, APOA1
8
Notch signaling pathway (KEGG)
Show member pathways
9.1ABCA1, APOA1
9
Show member pathways
9.0ABCA1, ABCB4, APOA1
10
Show member pathways
8.9ABCA1, APOA1, SCARB1
11
Show member pathways
8.9ABCA1, APOA1, SCARB1
128.9ABCA1, APOA1, SCARB1
13
Show member pathways
7.7ABCA1, APOA1, APOC2, APOC3, LCAT, SCARB1
14
Show member pathways
7.4ABCA1, APOA1, APOC2, APOC3, 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:

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:003436410.3APOA1, LCAT
2intermediate-density lipoprotein particleGO:003436310.2APOC2, APOC3
3apical plasma membraneGO:00163249.7ABCB4, ATP8B1, JAG1, NOTCH1
4spherical high-density lipoprotein particleGO:00343669.6APOA1, APOC2, APOC3
5chylomicronGO:00426279.6APOA1, APOC2, APOC3
6very-low-density lipoprotein particleGO:00343619.6APOA1, APOC2, APOC3
7integral component of plasma membraneGO:00058877.9ABCA1, ABCB4, ATP8B1, JAG1, MME, NOTCH2
8extracellular regionGO:00055767.0APOA1, APOC2, APOC3, EGF, JAG1, LCAT
9extracellular exosomeGO:00700626.6ABCB4, APOA1, APOC2, APOC3, EGF, LCAT
10plasma membraneGO:00058866.2ABCA1, ABCB4, APOA1, ATP8B1, EGF, JAG1

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

(show top 50)    (show all 60)
idNameGO IDScoreTop Affiliating Genes
1distal tubule developmentGO:007201710.7JAG1, NOTCH1
2regulation of developmental processGO:005079310.6NOTCH1, NOTCH2
3cardiac ventricle morphogenesisGO:000320810.6HEY2, NOTCH1
4ventricular trabecula myocardium morphogenesisGO:000322210.6HEY2, NOTCH1
5mesenchymal cell developmentGO:001403110.6HEY2, NOTCH1
6regulation of auditory receptor cell differentiationGO:004560710.6HEY2, NOTCH1
7arterial endothelial cell differentiationGO:006084210.6HEY2, NOTCH1
8cardiac vascular smooth muscle cell developmentGO:006094810.6HEY2, NOTCH1
9negative regulation of stem cell differentiationGO:200073710.6JAG1, NOTCH1
10pulmonary artery morphogenesisGO:006115610.6HEY2, JAG1
11cardiac right ventricle morphogenesisGO:000321510.5HEY2, JAG1
12cardiac left ventricle morphogenesisGO:000321410.5HEY2, NOTCH1
13response to muramyl dipeptideGO:003249510.5JAG1, NOTCH1
14atrial septum morphogenesisGO:006041310.4HEY2, NOTCH2
15Notch receptor processingGO:000722010.3JAG1, NOTCH1, NOTCH2
16negative regulation of very-low-density lipoprotein particle clearanceGO:001091610.1APOC2, APOC3
17chylomicron remnant clearanceGO:003438210.1APOC2, APOC3
18negative regulation of lipid metabolic processGO:004583310.1APOC2, APOC3
19negative regulation of receptor-mediated endocytosisGO:004826110.1APOC2, APOC3
20Notch signaling involved in heart developmentGO:006131410.1HEY2, JAG1, NOTCH1, NOTCH2
21phospholipid homeostasisGO:005509110.1ABCA1, APOA1
22pulmonary valve morphogenesisGO:000318410.1HEY2, JAG1, NOTCH1, NOTCH2
23negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.0APOA1, APOC3
24positive regulation of triglyceride catabolic processGO:001089810.0APOA1, APOC2
25high-density lipoprotein particle assemblyGO:003438010.0ABCA1, APOA1
26positive regulation of fatty acid biosynthetic processGO:004572310.0APOA1, APOC2
27blood vessel endothelial cell migrationGO:004353410.0APOA1, SCARB1
28Notch signaling pathwayGO:00072199.9HEY2, JAG1, NOTCH1, NOTCH2
29positive regulation of lipoprotein lipase activityGO:00510069.9APOA1, APOC2
30cardiac septum morphogenesisGO:00604119.9HEY2, JAG1, NOTCH1
31phospholipid translocationGO:00453329.9ABCA1, ABCB4, ATP8B1
32lipoprotein biosynthetic processGO:00421589.9ABCA1, APOA1, LCAT
33cholesterol importGO:00705089.8APOA1, SCARB1
34very-low-density lipoprotein particle remodelingGO:00343729.7APOA1, APOC2, LCAT
35phospholipid transportGO:00159149.6APOA1, ATP8B1, SCARB1
36regulation of Cdc42 protein signal transductionGO:00324899.6ABCA1, APOA1, APOC3
37cholesterol transportGO:00303019.6APOA1, LCAT, SCARB1
38cholesterol metabolic processGO:00082039.4ABCA1, APOA1, LCAT
39high-density lipoprotein particle clearanceGO:00343849.4APOA1, APOC2, SCARB1
40lipid metabolic processGO:00066299.3ABCB4, APOC2, LCAT, LPA
41high-density lipoprotein particle remodelingGO:00343759.2APOA1, APOC3, LCAT, SCARB1
42retinoid metabolic processGO:00015239.2APOA1, APOC2, APOC3
43phospholipid effluxGO:00337009.1ABCA1, APOA1, APOC2, APOC3
44triglyceride homeostasisGO:00703289.0APOA1, APOC2, APOC3, SCARB1
45lipid transportGO:00068698.6APOA1, APOC2, APOC3, LPA, SCARB1
46cholesterol effluxGO:00333448.5ABCA1, APOA1, APOC2, APOC3, SCARB1
47reverse cholesterol transportGO:00436918.3ABCA1, APOA1, APOC2, APOC3, LCAT, SCARB1
48cholesterol homeostasisGO:00426328.2ABCA1, APOA1, APOC2, APOC3, LCAT, SCARB1
49lipoprotein metabolic processGO:00421577.9ABCA1, APOA1, APOC2, APOC3, LCAT, LPA
50small molecule metabolic processGO:00442817.0ABCA1, ABCB4, APOA1, APOC2, APOC3, LCAT

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:000511210.2JAG1, NOTCH1
2phospholipid transporter activityGO:00055489.9ABCA1, APOA1
3high-density lipoprotein particle receptor bindingGO:00706539.8APOA1, APOC3
4apolipoprotein A-I bindingGO:00341869.8ABCA1, LCAT, SCARB1
5lipid transporter activityGO:00053199.8APOA1, ATP8B1
6cholesterol transporter activityGO:00171279.8ABCA1, APOA1
7apolipoprotein bindingGO:00341859.5ABCA1, LPA, SCARB1
8high-density lipoprotein particle bindingGO:00080359.4APOA1, SCARB1
9cholesterol bindingGO:00154859.4ABCA1, APOA1, APOC3
10lipase inhibitor activityGO:00551029.3APOA1, APOC2, APOC3
11lipid bindingGO:00082898.9APOA1, APOC2, APOC3
12phospholipid bindingGO:00055438.9ABCA1, APOA1, APOC3

Sources for Alagille Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet