ALGS1
MCID: ALG002
MIFTS: 72

Alagille Syndrome (ALGS1) 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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Alagille Syndrome:

Name: Alagille Syndrome 52 35 11 71 23 48 24 25 54 70 12 50 39 13
Arteriohepatic Dysplasia 11 23 48 24 25 54 27
Alagille-Watson Syndrome 11 48 25 54 70
Alagille Syndrome 1 52 70 27 68
Cholestasis with Peripheral Pulmonary Stenosis 48 25 70
Syndromic Bile Duct Paucity 23 24 54
Hepatic Ductular Hypoplasia 48 25 68
Hepatofacioneurocardiovertebral Syndrome 48 25
Paucity of Interlobular Bile Ducts 48 25
Cardiovertebral Syndrome 48 25
Watson-Miller Syndrome 48 25
Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation 54
Arteriohepatic Dysplasia Due to a Jag1 Point Mutation 54
Alagille-Watson Syndrome Due to a Jag1 Point Mutation 54
 
Syndromic Bile Duct Paucity Due to Monosomy 20p12 54
Arteriohepatic Dysplasia Due to Monosomy 20p12 54
Alagille Syndrome Due to a Jag1 Point Mutation 54
Alagille-Watson Syndrome Due to Monosomy 20p12 54
Alagille Syndrome Due to 20p12 Microdeletion 54
Alagille Syndrome Due to Monosomy 20p12 54
Alagille Syndrome Due to Del(20)(p12) 54
Hypoplasia Hepatic Ductular 48
Watson Alagille Syndrome 48
Alagille's Syndrome 25
Algs1 70
Algs 70
Aws 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
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:

OMIM52 118450
Disease Ontology11 DOID:9245
ICD1030 Q44.7
MeSH39 D016738
NCIt45 C35139
SNOMED-CT62 31742004
UMLS via Orphanet69 C0085280
MESH via Orphanet40 D016738
ICD10 via Orphanet31 Q44.7

Summaries for Alagille Syndrome

About this section
OMIM:52 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 Array, Array and Array. An important gene associated with Alagille Syndrome is JAG1 (Jagged 1), and among its related pathways are NOTCH1 regulation of human endothelial cell calcification and Amplification and Expansion of Oncogenic Pathways as Metastatic Traits. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are Decreased free cholesterol and digestive/alimentary.

NIH Rare Diseases:48 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:70 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.

Genetics Home Reference:25 Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.

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.

Wikipedia:71 Alagille syndrome, Alagille-Watson syndrome or ALGS, is an autosomal dominant genetic disorder that... 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 94)
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
6glycogen storage disease ixc10.8
7arena syndrome10.3APOA1, LCAT
8lipoprotein glomerulopathy10.2APOE, LCAT
9tyrosinemia, type ii10.2APOA1, LCAT
10dentinogenesis imperfecta type 210.2APOE, LCAT
11familial progressive cardiac conduction defect10.2APOA1, APOE, LCAT
12schistosomiasis10.2APOE, EGF, JAG1
13atopic dermatitis 410.2APOC3, LPA
14anaplastic ganglioglioma10.2APOA1, LCAT, LPA
15alzheimer disease 19, late onset10.2APOE, LCAT, LPA
16hyperchlorhidrosis, isolated10.2APOA1, APOE
17albinism, oculocutaneous, type v10.2APOA1, APOE, LPA
18mannosidosis, beta10.2APOA1, APOE, LCAT
19skin squamous cell carcinoma10.1APOA1, APOE, LPA
20pars planitis10.1APOA1, APOE
21optic nerve neoplasm10.1APOA1, APOE, LPA
22cholestasis10.1
23bleeding disorder, east texas type10.1APOA1, APOC3, APOE
24non-small cell lung cancer, childhood10.1JAG1, NOTCH1, NOTCH2
25prune belly syndrome10.1
26hepatitis10.1
27aneurysm10.1
28phosphoglycerate dehydrogenase deficiency10.1JAG1, NOTCH1, NOTCH2
29primary pigmented nodular adrenocortical disease10.1ABCB4, APOA1, APOE
30bird fancier's lung10.1APOA1, APOE, LCAT, LPA
31stone in bladder diverticulum10.1APOA1, APOE, LCAT, LPA
32testicular germ cell tumor non-seminomatous10.1HEY2, JAG1, NOTCH1
33neuropathy, hereditary sensory and autonomic, type ia10.1APOA1, APOE, LCAT, LPA
34opiate dependence10.1EGF, JAG1, NOTCH1
35biliary atresia10.0
36c1s deficiency10.0APOC2, APOE
37colorectal cancer, hereditary nonpolyposis, type 410.0NOTCH1, NOTCH2
38borderline leprosy10.0ABCB4, APOE, SCARB1
39hepatocellular carcinoma10.0
40pyrimidine metabolic disorder10.0APOA1, APOC3, APOE, LPA
41marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections9.9ABCB4, ATP8B1
42autoimmune-related retinopathy and optic neuropathy9.9APOA1, APOC2, APOE, LPA
43amyotrophic lateral sclerosis 39.9ABCB4, ATP8B1
44liver disease9.9
45chondrocalcinosis with early-onset osteoarthritis9.9APOA1, APOC3, APOE, LCAT, LPA
46hypertriglyceridemia9.9APOA1, APOC3, APOE, LCAT, LPA
47lipomatosis9.9APOA1, APOC3, APOE, LCAT, LPA
48gallbladder disease 19.9ABCB4, ATP8B1, JAG1
49cholestasis, intrahepatic, of pregnancy, 19.9ABCB4, ATP8B1, JAG1
50cataract 5, multiple types9.9APOA1, APOC3, APOE, LCAT, SCARB1

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



Diseases related to alagille syndrome

Symptoms & Phenotypes 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:

 54 64 (show all 76)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 abnormality of the ureter64 54 Occasional (29-5%) HP:0000069
3 nephrotic syndrome64 54 Occasional (29-5%) HP:0000100
4 brachycephaly64 54 Occasional (29-5%) HP:0000248
5 coarse facial features64 54 Frequent (79-30%) HP:0000280
6 pointed chin64 54 Frequent (79-30%) HP:0000307
7 round face64 54 Frequent (79-30%) HP:0000311
8 hypertelorism64 54 Occasional (29-5%) HP:0000316
9 short philtrum64 54 Occasional (29-5%) HP:0000322
10 micrognathia64 54 Occasional (29-5%) HP:0000347
11 protruding ear64 54 Frequent (79-30%) HP:0000411
12 strabismus64 54 Occasional (29-5%) HP:0000486
13 deeply set eye64 54 Occasional (29-5%) HP:0000490
14 downslanted palpebral fissures64 54 Occasional (29-5%) HP:0000494
15 keratoconus64 54 Occasional (29-5%) HP:0000563
16 abnormality of the pupil64 54 Occasional (29-5%) HP:0000615
17 abnormality of the ribs64 54 Occasional (29-5%) HP:0000772
18 hypertension64 54 Occasional (29-5%) HP:0000822
19 delayed puberty64 54 Occasional (29-5%) HP:0000823
20 corneal dystrophy64 54 Very frequent (99-80%) HP:0001131
21 intellectual disability, mild64 54 Occasional (29-5%) HP:0001256
22 specific learning disability64 54 Occasional (29-5%) HP:0001328
23 cholestasis64 54 Very frequent (99-80%) HP:0001396
24 failure to thrive64 54 Very frequent (99-80%) HP:0001508
25 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
26 ventricular septal defect64 54 Very frequent (99-80%) HP:0001629
27 atria septal defect54 Occasional (29-5%)
28 frontal bossing64 54 Frequent (79-30%) HP:0002007
29 hepatomegaly64 54 Very frequent (99-80%) HP:0002240
30 delayed skeletal maturation64 54 Occasional (29-5%) HP:0002750
31 hypoplasia of the ulna64 54 Occasional (29-5%) HP:0003022
32 long nose64 54 Frequent (79-30%) HP:0003189
33 spina bifida occulta64 54 Frequent (79-30%) HP:0003298
34 abnormal form of the vertebral bodies54 Frequent (79-30%)
35 vertebral segmentation defect64 54 Frequent (79-30%) HP:0003422
36 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
37 butterfly vertebral arch64 54 Frequent (79-30%) HP:0004617
38 peripheral pulmonary artery stenosis64 54 Occasional (29-5%) HP:0004969
39 reduced number of intrahepatic bile ducts64 54 Very frequent (99-80%) HP:0006571
40 renal hypoplasia/aplasia64 54 Occasional (29-5%) HP:0008678
41 short distal phalanx of finger64 54 Occasional (29-5%) HP:0009882
42 flat face64 54 Occasional (29-5%) HP:0012368
43 teleangiectasia of the skin54 Frequent (79-30%)
44 vesicoureteral reflux64 HP:0000076
45 renal hypoplasia64 HP:0000089
46 renal dysplasia64 HP:0000110
47 triangular face64 HP:0000325
48 broad forehead64 HP:0000337
49 macrotia64 HP:0000400
50 microcornea64 HP:0000482
51 cataract64 HP:0000518
52 chorioretinal atrophy64 HP:0000533
53 myopia64 HP:0000545
54 upslanted palpebral fissure64 HP:0000582
55 band keratopathy64 HP:0000585
56 posterior embryotoxon64 HP:0000627
57 areflexia64 HP:0001284
58 stroke64 HP:0001297
59 cirrhosis64 HP:0001394
60 hepatocellular carcinoma64 HP:0001402
61 axenfeld anomaly64 HP:0001492
62 atrial septal defect64 HP:0001631
63 tetralogy of fallot64 HP:0001636
64 coarctation of aorta64 HP:0001680
65 exocrine pancreatic insufficiency64 HP:0001738
66 renal tubular acidosis64 HP:0001947
67 hypertriglyceridemia64 HP:0002155
68 papillary thyroid carcinoma64 HP:0002895
69 elevated hepatic transaminases64 HP:0002910
70 hemivertebrae64 HP:0002937
71 hypercholesterolemia64 HP:0003124
72 depressed nasal bridge64 HP:0005280
73 prolonged neonatal jaundice64 HP:0006579
74 pigmentary retinal deposits64 HP:0007702
75 multiple small medullary renal cysts64 HP:0008659
76 telangiectasia of the skin64 HP:0100585

GenomeRNAi Phenotypes related to Alagille Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-29.2APOA1, APOC3, APOE, LPA

MGI Mouse Phenotypes related to Alagille Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3ABCB4, APOE, EGF, JAG1, NOTCH1, NOTCH2
2MP:00053697.7APOE, HEY2, JAG1, NOTCH1, NOTCH2, SCARB1
3MP:00053797.6ABCB4, APOA1, APOE, EGF, JAG1, LCAT
4MP:00053707.3ABCB4, APOA1, APOE, ATP8B1, HEY2, JAG1
5MP:00053857.2ABCB4, APOA1, APOE, HEY2, JAG1, LCAT
6MP:00053766.9ABCB4, APOA1, APOC2, APOE, ATP8B1, HEY2

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 2106
2Liver ExtractsPhase 24067
3Cholestyramine ResinPhase 116
4Lipid Regulating AgentsPhase 12766
5Hypolipidemic AgentsPhase 12785
6Anticholesteremic AgentsPhase 12025
7AntimetabolitesPhase 112054
8ColaNutraceuticalPhase 11946
9
Magnesium Sulfateapproved, vet_approved1797487-88-924083
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
Pancrelipaseapproved97053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
11Central Nervous System Depressants13403
12Tocolytic Agents739
13Peripheral Nervous System Agents23689
14Calcium, Dietary5713
15Analgesics11733
16Anesthetics9596
17Anti-Arrhythmia Agents3093
18Anticonvulsants2695
19calcium channel blockers1985
20pancreatin970
21Protein C Inhibitor98
22Alpha 1-Antitrypsin100
23Serine Proteinase Inhibitors878
24Trypsin Inhibitors125
25HIV Protease Inhibitors5470
26Hematinics1684
27
protease inhibitors5471
Synonyms:
 
protease inhibitors
28serineNutraceutical954

Interventional clinical trials:

(show all 14)
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
6An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy SubjectsCompletedNCT03082937Phase 1
7A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384CompletedNCT02963077Phase 1
8Positional Cloning of the Gene(s) Responsible for Alagille SyndromeCompletedNCT00001642
9Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver DiseaseCompletedNCT02131623
10Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver DiseaseCompletedNCT00007033
11Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record ReviewRecruitingNCT01515631
12Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)RecruitingNCT00571272
13Shear Wave Sonoelastography in Pediatric Liver FibrosisRecruitingNCT02372682
14FibroScan™ in Pediatric Cholestatic Liver Disease Study ProtocolEnrolling by invitationNCT02922751

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 127
2 Arteriohepatic Dysplasia27
3 Alagille Syndrome24 JAG1, NOTCH2

Anatomical Context for Alagille Syndrome

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MalaCards organs/tissues related to Alagille Syndrome:

36
Liver, Heart, Kidney, Eye, Skin, Thyroid, Endothelial

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

Publications for Alagille Syndrome

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Articles related to Alagille Syndrome:

(show top 50)    (show all 376)
idTitleAuthorsYear
1
Frequency and pathogenesis of central liver nodules in Alagille syndrome patients: Reply to Libbrecht and Cassiman. (28478502)
2017
2
Giant hepatic regenerative nodules in Alagille syndrome. (27796468)
2017
3
On the Pathogenesis of Central Liver Nodules in Alagille Syndrome. (28231074)
2017
4
Frequency and pathogenesis of central liver nodules in Alagille syndrome patients. (28474254)
2017
5
Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation. (28141679)
2017
6
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. (28465853)
2017
7
A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report. (27906097)
2016
8
Calcified atherosclerosis of the pulmonary trunk, stenosis of the main pulmonary arteries, and post-stenotic dilation of segmental pulmonary arteries in a patient with Alagille syndrome. (27242248)
2016
9
CT-defined phenotype of pulmonary artery stenoses in Alagille syndrome. (27041277)
2016
10
New JAG1 mutation causing Alagille Syndrome presenting with severe hypercholesterolemia: Case report with emphasis on genetics and lipid abnormalities. (27967296)
2016
11
Sleep Mask-like Chorioretinal Atrophy in a Patient With Alagille Syndrome. (27858950)
2016
12
Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review. (28492167)
2016
13
Alagille syndrome: clinical perspectives. (27418850)
2016
14
Anterior Chamber Pathology in Alagille Syndrome. (27843908)
2016
15
Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression. (28018696)
2016
16
Alagille syndrome associated with intestinal atresia. (26596367)
2016
17
Alagille Syndrome Candidates for Liver Transplantation: Differentiation from End-Stage Biliary Atresia Using Preoperative CT. (26901874)
2016
18
Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report. (27322896)
2016
19
Ultrasonography evaluation of infants with Alagille syndrome: In comparison with biliary atresia and neonatal hepatitis. (27161050)
2016
20
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome. (28090565)
2016
21
Central Liver Nodules in Alagille Syndrome and Biliary Atresia After Kasai Portoenterostomy. (27007399)
2016
22
Exocrine pancreatic function in children with Alagille syndrome. (27748459)
2016
23
Immune dysregulation in Alagille syndrome: A new feature of the evolving phenotype. (26026399)
2015
24
Negative feedback loop of cholesterol regulation is impaired in the livers of patients with Alagille syndrome. (25444747)
2015
25
Clinical features, Outcomes, and Genetic analysis in Korean Children with Alagille Syndrome. (25676721)
2015
26
Subarachnoid hemorrhage due to aneurysm rupture in a young woman with Alagille syndrome - A rare cause of sudden death. (25813756)
2015
27
Genetic Diagnosis in an Indian Child with Alagille Syndrome. (25596152)
2015
28
JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome. (26339425)
2015
29
Acute Liver Failure in an Adult, a Rare Complication of Alagille Syndrome: Case Report and Brief Review. (26361673)
2015
30
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. (26076142)
2015
31
Total biliary diversion as a treatment option for patients with progressive familial intrahepatic cholestasis and Alagille syndrome. (26319776)
2015
32
Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center. (26576184)
2015
33
CHORIORETINAL ATROPHY IN ALAGILLE SYNDROME. (26355821)
2015
34
Identification of Bile Duct Paucity in Alagille Syndrome: Utilizing CK7 and EMA Immunohistochemistry as a reliable panel for accurate diagnosis. (26366614)
2015
35
Moyamoya syndrome associated with Alagille syndrome: outcome after surgical revascularization. (25465847)
2015
36
A faithful JAGGED1 haploinsufficiency mouse model of arteriohepatic dysplasia (Alagille Syndrome) after all. (26560881)
2015
37
Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome. (25564806)
2015
38
Pretransplant management of basilar artery aneurysm and moyamoya disease in a child with Alagille syndrome. (26043700)
2015
39
Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome. (26059338)
2015
40
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. (26463753)
2015
41
Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation. (25613755)
2015
42
Williams syndrome presenting with findings consistent with Alagille syndrome. (25678968)
2015
43
Implantation of an Absorb bioresorbable vascular scaffold in the stenotic aortopulmonary collateral artery of a young child with Alagille syndrome. (26011192)
2015
44
Outcome of Alagille Syndrome Patients Who Had Previously Received Kasai Operation during Infancy: A Single Center Study. (26473137)
2015
45
Alagille Syndrome Mimicking Biliary Atresia in Early Infancy. (26618708)
2015
46
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. (25737299)
2015
47
Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. (26201540)
2015
48
Solitary Hepatic Nodule Adjacent To The Right Portal Vein: A Common Finding of Alagille Syndrome? (26284540)
2015
49
Splenic hamartomas in Alagille syndrome: case report and literature review. (24865822)
2014
50
A 3-year-old girl with underlying Alagille syndrome, presenting with generalized whitish papules. (25267533)
2014

Variations for Alagille Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Alagille Syndrome:

70 (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 41)
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)deletionPathogenicrs727504412GRCh38Chr 20, 10645245: 10645248
3JAG1NM_ 000214.2(JAG1): c.1326G> A (p.Trp442Ter)SNVPathogenicrs794726974GRCh37Chr 20, 10630192: 10630192
4JAG1NM_ 000214.2(JAG1): c.1207C> T (p.Gln403Ter)SNVPathogenicrs794727953GRCh37Chr 20, 10630922: 10630922
5JAG1NM_ 000214.2(JAG1): c.703C> T (p.Arg235Ter)SNVPathogenicrs876660980GRCh37Chr 20, 10637098: 10637098
6JAG1NM_ 000214.2(JAG1): c.2418C> A (p.Cys806Ter)SNVPathogenicrs533306015GRCh37Chr 20, 10624466: 10624466
7JAG1NM_ 000214.2(JAG1): c.2895dupT (p.Asn966Terfs)duplicationPathogenicrs878853752GRCh38Chr 20, 10641481: 10641481
8JAG1NM_ 000214.2(JAG1): c.2342dupA (p.Asn782Glufs)duplicationPathogenicrs886039887GRCh37Chr 20, 10625513: 10625513
9JAG1NM_ 000214.2(JAG1): c.2728dupG (p.Glu910Glyfs)duplicationPathogenicrs886042155GRCh37Chr 20, 10622296: 10622296
10JAG1NM_ 000214.2(JAG1): c.173_ 176delCCCG (p.Ala58Glyfs)deletionPathogenicrs886043130GRCh37Chr 20, 10653560: 10653563
11JAG1NM_ 000214.2(JAG1): c.1056_ 1057insACAACAGAGGCAGCTGTAAG (p.Glu353Thrfs)insertionPathogenicrs886043451GRCh37Chr 20, 10632292: 10632293
12JAG1NM_ 000214.2(JAG1): c.841C> T (p.Gln281Ter)SNVPathogenicrs886043603GRCh37Chr 20, 10633161: 10633161
13JAG1NM_ 000214.2(JAG1): c.2270dupG (p.Thr758Hisfs)duplicationPathogenicrs886043605GRCh37Chr 20, 10625585: 10625585
14JAG1NM_ 000214.2(JAG1): c.439C> T (p.Gln147Ter)SNVPathogenicrs886043606GRCh37Chr 20, 10644611: 10644611
15JAG1NM_ 000214.2(JAG1): c.2706C> A (p.Cys902Ter)SNVPathogenicrs886043869GRCh37Chr 20, 10622318: 10622318
16JAG1NM_ 000214.2(JAG1): c.2310C> A (p.Cys770Ter)SNVPathogenicrs886043904GRCh37Chr 20, 10625545: 10625545
17JAG1NM_ 000214.2(JAG1): c.390dupG (p.Ser131Valfs)duplicationPathogenicrs886044111GRCh37Chr 20, 10644660: 10644660
18JAG1NM_ 000214.2(JAG1): c.2122C> T (p.Gln708Ter)SNVPathogenicrs886044136GRCh37Chr 20, 10625896: 10625896
19JAG1NM_ 000214.2(JAG1): c.1395+3A> GSNVPathogenicrs886044220GRCh37Chr 20, 10629706: 10629706
20JAG1NM_ 000214.2(JAG1): c.1720+1delGdeletionPathogenicrs886044349GRCh37Chr 20, 10628607: 10628607
21JAG1indelPathogenicGRCh37Chr 20, 10623156: 10623178
22JAG1NM_ 000214.2(JAG1): c.1218_ 1219insGA (p.Lys407Glufs)insertionPathogenicrs886044604GRCh37Chr 20, 10630910: 10630911
23JAG1NM_ 000214.2(JAG1): c.1353dupT (p.Asn452Terfs)duplicationPathogenicGRCh38Chr 20, 10649103: 10649103
24JAG1NM_ 000214.2(JAG1): c.2966dupT (p.Leu989Phefs)duplicationPathogenicGRCh38Chr 20, 10641195: 10641195
25JAG1NM_ 000214.2(JAG1): c.2840delA (p.Lys947Serfs)deletionPathogenicrs1060501349GRCh38Chr 20, 10641536: 10641536
26JAG1NM_ 000214.2(JAG1): c.2688G> A (p.Trp896Ter)SNVPathogenicrs1060501350GRCh38Chr 20, 10641688: 10641688
27JAG1NM_ 000214.2(JAG1): c.3006C> A (p.Cys1002Ter)SNVPathogenicrs372984801GRCh37Chr 20, 10621803: 10621803
28JAG1NM_ 000214.2(JAG1): c.543T> A (p.Tyr181Ter)SNVPathogenicrs1060501351GRCh38Chr 20, 10658619: 10658619
29JAG1NM_ 000214.2(JAG1): c.2844C> A (p.Cys948Ter)SNVPathogenicrs1060501352GRCh38Chr 20, 10641532: 10641532
30JAG1JAG1, 2-BP DEL, 3098GTdeletionPathogenic
31JAG1JAG1, IVS23DS, G-C, +1SNVPathogenic
32JAG1JAG1, 2-BP DEL, 1104AGdeletionPathogenic
33JAG1JAG1, 1-BP DEL, 2066CdeletionPathogenic
34JAG1NM_ 000214.2(JAG1): c.550C> T (p.Arg184Cys)SNVPathogenicrs121918350GRCh37Chr 20, 10639260: 10639260
35JAG1NM_ 000214.2(JAG1): c.551G> A (p.Arg184His)SNVPathogenic/ Likely pathogenicrs121918351GRCh37Chr 20, 10639259: 10639259
36JAG1JAG1, 5-BP DELdeletionPathogenic
37JAG1JAG1, 1-BP INS, 1618CinsertionPathogenic
38JAG1JAG1, 1-BP INS, 684GinsertionPathogenic
39JAG1NM_ 000214.2(JAG1): c.110T> C (p.Leu37Ser)SNVPathogenicrs121918352GRCh37Chr 20, 10653626: 10653626
40JAG1JAG1, 2-BP DEL, 1485CTdeletionPathogenic
41JAG1JAG1, 1329, T-G, +2SNVPathogenic

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 17)
idSuper pathwaysScoreTop Affiliating Genes
110.0JAG1, NOTCH1
210.0JAG1, NOTCH1
3
Show member pathways
9.7JAG1, NOTCH1, NOTCH2
4
Show member pathways
9.7JAG1, NOTCH1, NOTCH2
59.7JAG1, NOTCH1, NOTCH2
69.6EGF, NOTCH1, NOTCH2
79.6APOA1, SCARB1
89.5APOA1, APOC3
9
Show member pathways
9.5HEY2, JAG1, NOTCH1, NOTCH2
109.4HEY2, NOTCH1, TWIST1
119.2HEY2, NOTCH1, NOTCH2, TWIST1
12
Show member pathways
9.1EGF, HEY2, JAG1, NOTCH1, NOTCH2
13
Show member pathways
8.8APOA1, APOE, SCARB1
14
Show member pathways
8.3APOA1, APOC2, APOC3, APOE
15
Show member pathways
8.3APOA1, APOC2, APOC3, APOE
16
Show member pathways
7.6APOA1, APOC2, APOC3, APOE, LCAT, SCARB1
17
Show member pathways
7.3APOA1, 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 11)
idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:004323510.0EGF, NOTCH1, NOTCH2
2endocytic vesicle lumenGO:00716829.9APOA1, APOE
3apical plasma membraneGO:00163249.8ABCB4, ATP8B1, JAG1, NOTCH1
4spherical high-density lipoprotein particleGO:00343669.4APOA1, APOC2, APOC3
5low-density lipoprotein particleGO:00343629.2APOA1, APOC2, APOE
6chylomicronGO:00426279.0APOA1, APOC2, APOC3, APOE
7early endosomeGO:00057699.0APOA1, APOC2, APOC3, APOE
8high-density lipoprotein particleGO:00343649.0APOA1, APOC2, APOE, LCAT
9intermediate-density lipoprotein particleGO:00343638.8APOA1, APOC2, APOC3, APOE
10very-low-density lipoprotein particleGO:00343618.3APOA1, APOC2, APOC3, APOE
11extracellular regionGO:00055767.2APOA1, APOC2, APOC3, APOE, EGF, JAG1

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

(show top 50)    (show all 69)
idNameGO IDScoreTop Affiliating Genes
1cell fate determinationGO:000170910.8JAG1, NOTCH2
2cardiac right ventricle morphogenesisGO:000321510.8HEY2, JAG1
3atrial septum morphogenesisGO:006041310.7HEY2, NOTCH2
4distal tubule developmentGO:007201710.7JAG1, NOTCH1
5pulmonary artery morphogenesisGO:006115610.7HEY2, JAG1
6negative regulation of stem cell differentiationGO:200073710.7JAG1, NOTCH1
7neuronal stem cell population maintenanceGO:009715010.7JAG1, NOTCH1
8response to muramyl dipeptideGO:003249510.7JAG1, NOTCH1
9arterial endothelial cell differentiationGO:006084210.7HEY2, NOTCH1
10cardiac epithelial to mesenchymal transitionGO:006031710.7HEY2, NOTCH1
11cardiac left ventricle morphogenesisGO:000321410.7HEY2, NOTCH1
12cardiac vascular smooth muscle cell developmentGO:006094810.7HEY2, NOTCH1
13cardiac ventricle morphogenesisGO:000320810.7HEY2, NOTCH1
14regulation of developmental processGO:005079310.7NOTCH1, NOTCH2
15mesenchymal cell developmentGO:001403110.7HEY2, NOTCH1
16positive regulation of cardiac muscle cell proliferationGO:006004510.7HEY2, NOTCH1
17regulation of auditory receptor cell differentiationGO:004560710.7HEY2, NOTCH1
18cardiac neural crest cell development involved in outflow tract morphogenesisGO:006130910.5JAG1, TWIST1
19cardiac septum morphogenesisGO:006041110.5HEY2, JAG1, NOTCH1
20aortic valve morphogenesisGO:000318010.4NOTCH1, TWIST1
21endocardial cushion morphogenesisGO:000320310.4NOTCH1, TWIST1
22negative regulation of lipid metabolic processGO:004583310.4APOC2, APOC3
23negative regulation of receptor-mediated endocytosisGO:004826110.4APOC2, APOC3
24negative regulation of very-low-density lipoprotein particle clearanceGO:001091610.4APOC2, APOC3
25blood vessel endothelial cell migrationGO:004353410.4APOA1, SCARB1
26cholesterol importGO:007050810.4APOA1, SCARB1
27endothelial cell proliferationGO:000193510.4APOA1, SCARB1
28drug transmembrane transportGO:000685510.3ABCB4, ATP8B1
29phospholipid translocationGO:004533210.3ABCB4, ATP8B1
30negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.3APOA1, APOC3
31intestinal absorptionGO:005089210.2ABCB4, SCARB1
32positive regulation of fatty acid biosynthetic processGO:004572310.2APOA1, APOC2
33positive regulation of lipoprotein lipase activityGO:005100610.2APOA1, APOC2
34positive regulation of triglyceride catabolic processGO:001089810.2APOA1, APOC2
35Notch signaling involved in heart developmentGO:006131410.2HEY2, JAG1, NOTCH1, NOTCH2
36Notch signaling pathwayGO:000721910.2HEY2, JAG1, NOTCH1, NOTCH2
37pulmonary valve morphogenesisGO:000318410.2HEY2, JAG1, NOTCH1, NOTCH2
38negative regulation of cell differentiationGO:004559610.2JAG1, NOTCH1, TWIST1
39ventricular trabecula myocardium morphogenesisGO:000322210.1HEY2, NOTCH1
40cholesterol transportGO:003030110.1APOA1, LCAT, SCARB1
41low-density lipoprotein particle remodelingGO:003437410.1APOE, LPA
42cholesterol catabolic processGO:000670710.1APOE, SCARB1
43phospholipid transportGO:001591410.0APOA1, ATP8B1, SCARB1
44positive regulation of nitric-oxide synthase activityGO:005100010.0APOE, SCARB1
45high-density lipoprotein particle assemblyGO:00343809.9APOA1, APOE
46neuron projection regenerationGO:00311029.9APOA1, APOE
47positive regulation of cholesterol esterificationGO:00108739.9APOA1, APOE
48lipid homeostasisGO:00550889.8ABCB4, APOE
49cholesterol metabolic processGO:00082039.7APOA1, APOE, LCAT
50lipoprotein biosynthetic processGO:00421589.6APOA1, APOE, LCAT

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:000511210.7JAG1, NOTCH1
2apolipoprotein A-I bindingGO:003418610.6LCAT, SCARB1
3apolipoprotein bindingGO:003418510.5LPA, SCARB1
4high-density lipoprotein particle bindingGO:000803510.3APOA1, SCARB1
5high-density lipoprotein particle receptor bindingGO:007065310.3APOA1, APOC3
6phospholipid transporter activityGO:000554810.0ABCB4, APOA1
7cholesterol transporter activityGO:00171279.8APOA1, APOE
8lipoprotein particle bindingGO:00718139.8APOA1, APOE
9phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.8APOA1, APOE
10lipase inhibitor activityGO:00551029.8APOA1, APOC2, APOC3
11lipid transporter activityGO:00053199.5APOA1, APOE, ATP8B1
12cholesterol bindingGO:00154859.4APOA1, APOC3, APOE
13phospholipid bindingGO:00055439.2APOA1, APOC3, APOE, JAG1
14lipid bindingGO:00082899.0APOA1, APOC2, APOC3, APOE
15protein homodimerization activityGO:00428038.0APOC2, APOE, HEY2, SCARB1, TWIST1

Sources for Alagille Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet