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

Aliases & Descriptions for Alagille Syndrome:

Name: Alagille Syndrome 54 38 12 71 23 50 24 25 56 66 13 52 42 14
Arteriohepatic Dysplasia 12 23 50 24 25 56 29
Alagille-Watson Syndrome 12 50 25 56 66
Alagille Syndrome 1 54 66 29 69
Cholestasis with Peripheral Pulmonary Stenosis 50 25 66
Syndromic Bile Duct Paucity 23 24 56
Hepatic Ductular Hypoplasia 50 25 69
Hepatofacioneurocardiovertebral Syndrome 50 25
Paucity of Interlobular Bile Ducts 50 25
Cardiovertebral Syndrome 50 25
Watson-Miller Syndrome 50 25
Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation 56
Alagille-Watson Syndrome Due to a Jag1 Point Mutation 56
Arteriohepatic Dysplasia Due to a Jag1 Point Mutation 56
Syndromic Bile Duct Paucity Due to Monosomy 20p12 56
Alagille-Watson Syndrome Due to Monosomy 20p12 56
Arteriohepatic Dysplasia Due to Monosomy 20p12 56
Alagille Syndrome Due to a Jag1 Point Mutation 56
Alagille Syndrome Due to 20p12 Microdeletion 56
Alagille Syndrome Due to Monosomy 20p12 56
Alagille Syndrome Due to Del(20)(p12) 56
Hypoplasia Hepatic Ductular 50
Watson Alagille Syndrome 50
Alagille's Syndrome 25
Algs1 66
Algs 66
Aws 66

Characteristics:

Orphanet epidemiological data:

56
alagille syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Australia),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

GeneReviews:

23
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:

OMIM 54 118450
Disease Ontology 12 DOID:9245
ICD10 33 Q44.7
MeSH 42 D016738
NCIt 47 C35139
SNOMED-CT 64 31742004
UMLS via Orphanet 70 C0085280
MESH via Orphanet 43 D016738
ICD10 via Orphanet 34 Q44.7
UMLS 69 C0085280

Summaries for Alagille Syndrome

OMIM : 54 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 hypertelorism, frontal bossing and hypertension. An important gene associated with Alagille Syndrome is JAG1 (Jagged 1), and among its related pathways/superpathways are Glioma and Metabolism of water-soluble vitamins and cofactors. The drugs Liver Extracts and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include Head Mesenchyme and Liver, and related phenotypes are Decreased free cholesterol and cardiovascular system

NIH Rare Diseases : 50 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 : 66 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 : 12 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: NBK1273

Related Diseases for Alagille Syndrome

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)
id Related Disease Score Top Affiliating Genes
1 alagille syndrome 2 12.2
2 jag1-related alagille syndrome 11.9
3 notch2-related alagille syndrome 11.9
4 hardikar syndrome 10.8
5 biliary atresia, extrahepatic 10.8
6 glycogen storage disease ixc 10.8
7 arena syndrome 10.3 APOA1 LCAT
8 lipoprotein glomerulopathy 10.2 APOE LCAT
9 tyrosinemia, type ii 10.2 APOA1 LCAT
10 dentinogenesis imperfecta type 2 10.2 APOE LCAT
11 familial progressive cardiac conduction defect 10.2 APOA1 APOE LCAT
12 schistosomiasis 10.2 APOE EGF JAG1
13 atopic dermatitis 4 10.2 APOC3 LPA
14 anaplastic ganglioglioma 10.2 APOA1 LCAT LPA
15 alzheimer disease 19, late onset 10.2 APOE LCAT LPA
16 hyperchlorhidrosis, isolated 10.2 APOA1 APOE
17 albinism, oculocutaneous, type v 10.2 APOA1 APOE LPA
18 mannosidosis, beta 10.2 APOA1 APOE LCAT
19 skin squamous cell carcinoma 10.1 APOA1 APOE LPA
20 pars planitis 10.1 APOA1 APOE
21 optic nerve neoplasm 10.1 APOA1 APOE LPA
22 cholestasis 10.1
23 bleeding disorder, east texas type 10.1 APOA1 APOC3 APOE
24 non-small cell lung cancer, childhood 10.1 JAG1 NOTCH1 NOTCH2
25 prune belly syndrome 10.1
26 hepatitis 10.1
27 aneurysm 10.1
28 phosphoglycerate dehydrogenase deficiency 10.1 JAG1 NOTCH1 NOTCH2
29 primary pigmented nodular adrenocortical disease 10.1 ABCB4 APOA1 APOE
30 bird fancier's lung 10.1 APOA1 APOE LCAT LPA
31 stone in bladder diverticulum 10.1 APOA1 APOE LCAT LPA
32 testicular germ cell tumor non-seminomatous 10.1 HEY2 JAG1 NOTCH1
33 neuropathy, hereditary sensory and autonomic, type ia 10.1 APOA1 APOE LCAT LPA
34 opiate dependence 10.1 EGF JAG1 NOTCH1
35 biliary atresia 10.0
36 c1s deficiency 10.0 APOC2 APOE
37 colorectal cancer, hereditary nonpolyposis, type 4 10.0 NOTCH1 NOTCH2
38 borderline leprosy 10.0 ABCB4 APOE SCARB1
39 hepatocellular carcinoma 10.0
40 pyrimidine metabolic disorder 10.0 APOA1 APOC3 APOE LPA
41 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections 9.9 ABCB4 ATP8B1
42 autoimmune-related retinopathy and optic neuropathy 9.9 APOA1 APOC2 APOE LPA
43 amyotrophic lateral sclerosis 3 9.9 ABCB4 ATP8B1
44 liver disease 9.9
45 chondrocalcinosis with early-onset osteoarthritis 9.9 APOA1 APOC3 APOE LCAT LPA
46 hypertriglyceridemia 9.9 APOA1 APOC3 APOE LCAT LPA
47 lipomatosis 9.9 APOA1 APOC3 APOE LCAT LPA
48 gallbladder disease 1 9.9 ABCB4 ATP8B1 JAG1
49 cholestasis, intrahepatic, of pregnancy, 1 9.9 ABCB4 ATP8B1 JAG1
50 cataract 5, multiple types 9.9 APOA1 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

Symptoms by clinical synopsis from OMIM:

118450

Clinical features from OMIM:

118450

Human phenotypes related to Alagille Syndrome:

56 32 (show top 50) (show all 76)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Occasional (29-5%) HP:0000316
2 frontal bossing 56 32 Frequent (79-30%) HP:0002007
3 hypertension 56 32 Occasional (29-5%) HP:0000822
4 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
5 coarse facial features 56 32 Frequent (79-30%) HP:0000280
6 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
7 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
8 delayed puberty 56 32 Occasional (29-5%) HP:0000823
9 intellectual disability, mild 56 32 Occasional (29-5%) HP:0001256
10 brachycephaly 56 32 Occasional (29-5%) HP:0000248
11 micrognathia 56 32 Occasional (29-5%) HP:0000347
12 strabismus 56 32 Occasional (29-5%) HP:0000486
13 corneal dystrophy 56 32 Very frequent (99-80%) HP:0001131
14 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
15 flat face 56 32 Occasional (29-5%) HP:0012368
16 nephrotic syndrome 56 32 Occasional (29-5%) HP:0000100
17 protruding ear 56 32 Frequent (79-30%) HP:0000411
18 short philtrum 56 32 Occasional (29-5%) HP:0000322
19 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
20 deeply set eye 56 32 Occasional (29-5%) HP:0000490
21 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
22 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
23 downslanted palpebral fissures 56 32 Occasional (29-5%) HP:0000494
24 round face 56 32 Frequent (79-30%) HP:0000311
25 specific learning disability 56 32 Occasional (29-5%) HP:0001328
26 ventricular septal defect 56 32 Very frequent (99-80%) HP:0001629
27 cholestasis 56 32 Very frequent (99-80%) HP:0001396
28 abnormality of the pupil 56 32 Occasional (29-5%) HP:0000615
29 abnormality of the ribs 56 32 Occasional (29-5%) HP:0000772
30 pointed chin 56 32 Frequent (79-30%) HP:0000307
31 spina bifida occulta 56 32 Frequent (79-30%) HP:0003298
32 vertebral segmentation defect 56 32 Frequent (79-30%) HP:0003422
33 peripheral pulmonary artery stenosis 56 32 Occasional (29-5%) HP:0004969
34 short distal phalanx of finger 56 32 Occasional (29-5%) HP:0009882
35 abnormality of the ureter 56 32 Occasional (29-5%) HP:0000069
36 keratoconus 56 32 Occasional (29-5%) HP:0000563
37 hypoplasia of the ulna 56 32 Occasional (29-5%) HP:0003022
38 long nose 56 32 Frequent (79-30%) HP:0003189
39 butterfly vertebral arch 56 32 Frequent (79-30%) HP:0004617
40 reduced number of intrahepatic bile ducts 56 32 Very frequent (99-80%) HP:0006571
41 macrotia 32 HP:0000400
42 cataract 32 HP:0000518
43 depressed nasal bridge 32 HP:0005280
44 hypertriglyceridemia 32 HP:0002155
45 abnormal form of the vertebral bodies 56 Frequent (79-30%)
46 elevated hepatic transaminases 32 HP:0002910
47 atria septal defect 56 Occasional (29-5%)
48 coarctation of aorta 32 HP:0001680
49 cirrhosis 32 HP:0001394
50 exocrine pancreatic insufficiency 32 HP:0001738

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.92 APOA1 APOC3 APOE LPA

MGI Mouse Phenotypes related to Alagille Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 ABCB4 APOA1 APOE HEY2 JAG1 LCAT
2 endocrine/exocrine gland MP:0005379 9.91 LCAT NOTCH1 NOTCH2 SCARB1 ABCB4 APOA1
3 homeostasis/metabolism MP:0005376 9.9 ABCB4 APOA1 APOC2 APOE ATP8B1 HEY2
4 digestive/alimentary MP:0005381 9.87 ABCB4 APOE EGF JAG1 NOTCH1 NOTCH2
5 liver/biliary system MP:0005370 9.65 ABCB4 APOA1 APOE ATP8B1 HEY2 JAG1
6 muscle MP:0005369 9.17 TWIST1 APOE HEY2 JAG1 NOTCH1 NOTCH2

Drugs & Therapeutics for Alagille Syndrome

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

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 2
2 Bile Acids and Salts Phase 2
3 Cholestyramine Resin Phase 1
4 Hypolipidemic Agents Phase 1
5 Anticholesteremic Agents Phase 1
6 Lipid Regulating Agents Phase 1
7 Antimetabolites Phase 1
8 Cola Nutraceutical Phase 1
9
Magnesium Sulfate Approved, Vet_approved 7487-88-9 24083
10
Pancrelipase Approved 53608-75-6
11 Analgesics
12 calcium channel blockers
13 Tocolytic Agents
14 Anesthetics
15 Peripheral Nervous System Agents
16 Anti-Arrhythmia Agents
17 Anticonvulsants
18 Calcium, Dietary
19 Central Nervous System Depressants
20 pancreatin
21 Alpha 1-Antitrypsin
22 Protein C Inhibitor
23
protease inhibitors
24 Serine Proteinase Inhibitors
25 HIV Protease Inhibitors
26 Hematinics
27 Trypsin Inhibitors
28 serine Nutraceutical

Interventional clinical trials:

(show all 14)
id Name Status NCT ID Phase
1 Evaluation of LUM001 in the Reduction of Pruritus in Alagille Syndrome Completed NCT02057692 Phase 2
2 Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille Syndrome Completed NCT01903460 Phase 2
3 An 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 Syndrome Active, not recruiting NCT02117713 Phase 2
4 A 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 Syndrome Active, not recruiting NCT02160782 Phase 2
5 An 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 recruiting NCT02047318 Phase 2
6 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1
7 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1
8 Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Completed NCT00001642
9 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
10 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033
11 Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Review Recruiting NCT01515631
12 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
13 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
14 FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Enrolling by invitation NCT02922751

Search NIH Clinical Center for Alagille Syndrome

Cochrane evidence based reviews: alagille syndrome

Genetic Tests for Alagille Syndrome

Genetic tests related to Alagille Syndrome:

id Genetic test Affiliating Genes
1 Alagille Syndrome 1 29
2 Arteriohepatic Dysplasia 29
3 Alagille Syndrome 24 NOTCH2 JAG1

Anatomical Context for Alagille Syndrome

MalaCards organs/tissues related to Alagille Syndrome:

39
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 Tissue Anatomical CompartmentCell Relevance
1 Head Mesenchyme Branchial Arch 3,4,6 Cardiac Neural Crest Cells Affected by disease
2 Liver Intrahepatic Biliary Tree Immature Biliary Epithelial Cells Affected by disease

Publications for Alagille Syndrome

Articles related to Alagille Syndrome:

(show top 50) (show all 376)
id Title Authors Year
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

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

66 (show top 50) (show all 51)
id Symbol AA change Variation ID SNP ID
1 JAG1 p.Leu37Ser VAR_013186 rs121918352
2 JAG1 p.Leu79His VAR_013187
3 JAG1 p.Ala127Thr VAR_013188
4 JAG1 p.Pro129Arg VAR_013189
5 JAG1 p.Ile152Thr VAR_013190
6 JAG1 p.Pro163Leu VAR_013191
7 JAG1 p.Arg184Cys VAR_013192 rs121918350
8 JAG1 p.Arg184Gly VAR_013193
9 JAG1 p.Arg184His VAR_013194 rs121918351
10 JAG1 p.Arg184Leu VAR_013195
11 JAG1 p.Cys187Ser VAR_013196
12 JAG1 p.Cys220Phe VAR_013197
13 JAG1 p.Cys229Gly VAR_013198
14 JAG1 p.Cys229Tyr VAR_013199
15 JAG1 p.Cys284Phe VAR_013201
16 JAG1 p.Trp288Cys VAR_013202
17 JAG1 p.Gly386Arg VAR_013203 rs863223650
18 JAG1 p.Cys438Phe VAR_013204
19 JAG1 p.Cys731Ser VAR_013205
20 JAG1 p.Cys740Arg VAR_013206
21 JAG1 p.Cys753Arg VAR_013207
22 JAG1 p.Ala31Val VAR_026297
23 JAG1 p.Gly33Asp VAR_026298
24 JAG1 p.Gly33Ser VAR_026299
25 JAG1 p.Gly33Val VAR_026300
26 JAG1 p.Ile39Ser VAR_026301
27 JAG1 p.Leu40Pro VAR_026302
28 JAG1 p.Phe75Ser VAR_026306
29 JAG1 p.Cys78Ser VAR_026307
30 JAG1 p.Cys92Arg VAR_026308
31 JAG1 p.Cys92Tyr VAR_026309
32 JAG1 p.Ile120Asn VAR_026310
33 JAG1 p.Pro123Ser VAR_026311
34 JAG1 p.Ala155Pro VAR_026312
35 JAG1 p.Pro163Arg VAR_026313
36 JAG1 p.Tyr181Asn VAR_026314
37 JAG1 p.Cys187Tyr VAR_026315
38 JAG1 p.Trp224Cys VAR_026317
39 JAG1 p.Arg252Gly VAR_026319
40 JAG1 p.Gly256Ser VAR_026320
41 JAG1 p.Pro269Leu VAR_026321 rs797044956
42 JAG1 p.Cys271Arg VAR_026322
43 JAG1 p.Asn504Ser VAR_026323 rs527236046
44 JAG1 p.Cys693Tyr VAR_026325 rs566563238
45 JAG1 p.Cys714Tyr VAR_026326
46 JAG1 p.Arg889Gln VAR_026329 rs149419694
47 JAG1 p.Cys902Ser VAR_026330
48 JAG1 p.Cys911Tyr VAR_026332
49 JAG1 p.Ser913Arg VAR_026333
50 JAG1 p.Arg937Gln VAR_026335 rs145895196

ClinVar genetic disease variations for Alagille Syndrome:

6 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1 JAG1 JAG1, 2-BP DEL, 3098GT deletion Pathogenic
2 JAG1 JAG1, IVS23DS, G-C, +1 single nucleotide variant Pathogenic
3 JAG1 JAG1, 2-BP DEL, 1104AG deletion Pathogenic
4 JAG1 JAG1, 1-BP DEL, 2066C deletion Pathogenic
5 JAG1 NM_000214.2(JAG1): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121918350 GRCh37 Chromosome 20, 10639260: 10639260
6 JAG1 NM_000214.2(JAG1): c.551G> A (p.Arg184His) single nucleotide variant Pathogenic/Likely pathogenic rs121918351 GRCh37 Chromosome 20, 10639259: 10639259
7 JAG1 JAG1, 5-BP DEL deletion Pathogenic
8 JAG1 JAG1, 1-BP INS, 1618C insertion Pathogenic
9 JAG1 JAG1, 1-BP INS, 684G insertion Pathogenic
10 JAG1 NM_000214.2(JAG1): c.110T> C (p.Leu37Ser) single nucleotide variant Pathogenic rs121918352 GRCh37 Chromosome 20, 10653626: 10653626
11 JAG1 JAG1, 2-BP DEL, 1485CT deletion Pathogenic
12 JAG1 JAG1, 1329, T-G, +2 single nucleotide variant Pathogenic
13 JAG1 NM_000214.2(JAG1): c.1511A> G (p.Asn504Ser) single nucleotide variant Likely pathogenic rs527236046 GRCh37 Chromosome 20, 10629255: 10629255
14 JAG1 NM_000214.2(JAG1): c.2122_2125delCAGT (p.Gln708Valfs) deletion Pathogenic rs727504412 GRCh38 Chromosome 20, 10645245: 10645248
15 JAG1 NM_000214.2(JAG1): c.1326G> A (p.Trp442Ter) single nucleotide variant Pathogenic rs794726974 GRCh37 Chromosome 20, 10630192: 10630192
16 JAG1 NM_000214.2(JAG1): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs794727953 GRCh37 Chromosome 20, 10630922: 10630922
17 JAG1 NM_000214.2(JAG1): c.2418C> A (p.Cys806Ter) single nucleotide variant Pathogenic rs533306015 GRCh37 Chromosome 20, 10624466: 10624466
18 JAG1 NM_000214.2(JAG1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs876660980 GRCh37 Chromosome 20, 10637098: 10637098
19 JAG1 NM_000214.2(JAG1): c.2895dupT (p.Asn966Terfs) duplication Pathogenic rs878853752 GRCh38 Chromosome 20, 10641481: 10641481
20 JAG1 NM_000214.2(JAG1): c.2342dupA (p.Asn782Glufs) duplication Pathogenic rs886039887 GRCh37 Chromosome 20, 10625513: 10625513
21 JAG1 NM_000214.2(JAG1): c.2728dupG (p.Glu910Glyfs) duplication Pathogenic rs886042155 GRCh37 Chromosome 20, 10622296: 10622296
22 JAG1 NM_000214.2(JAG1): c.173_176delCCCG (p.Ala58Glyfs) deletion Pathogenic rs886043130 GRCh37 Chromosome 20, 10653560: 10653563
23 JAG1 NM_000214.2(JAG1): c.1056_1057insACAACAGAGGCAGCTGTAAG (p.Glu353Thrfs) insertion Pathogenic rs886043451 GRCh37 Chromosome 20, 10632292: 10632293
24 JAG1 NM_000214.2(JAG1): c.841C> T (p.Gln281Ter) single nucleotide variant Pathogenic rs886043603 GRCh37 Chromosome 20, 10633161: 10633161
25 JAG1 NM_000214.2(JAG1): c.2270dupG (p.Thr758Hisfs) duplication Pathogenic rs886043605 GRCh37 Chromosome 20, 10625585: 10625585
26 JAG1 NM_000214.2(JAG1): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs886043606 GRCh37 Chromosome 20, 10644611: 10644611
27 JAG1 NM_000214.2(JAG1): c.2706C> A (p.Cys902Ter) single nucleotide variant Pathogenic rs886043869 GRCh37 Chromosome 20, 10622318: 10622318
28 JAG1 NM_000214.2(JAG1): c.2310C> A (p.Cys770Ter) single nucleotide variant Pathogenic rs886043904 GRCh37 Chromosome 20, 10625545: 10625545
29 JAG1 NM_000214.2(JAG1): c.390dupG (p.Ser131Valfs) duplication Pathogenic rs886044111 GRCh37 Chromosome 20, 10644660: 10644660
30 JAG1 NM_000214.2(JAG1): c.2122C> T (p.Gln708Ter) single nucleotide variant Pathogenic rs886044136 GRCh37 Chromosome 20, 10625896: 10625896
31 JAG1 NM_000214.2(JAG1): c.1395+3A> G single nucleotide variant Pathogenic rs886044220 GRCh37 Chromosome 20, 10629706: 10629706
32 JAG1 NM_000214.2(JAG1): c.1720+1delG deletion Pathogenic rs886044349 GRCh37 Chromosome 20, 10628607: 10628607
33 JAG1 indel Pathogenic GRCh37 Chromosome 20, 10623156: 10623178
34 JAG1 NM_000214.2(JAG1): c.1218_1219insGA (p.Lys407Glufs) insertion Pathogenic rs886044604 GRCh37 Chromosome 20, 10630910: 10630911
35 JAG1 NM_000214.2(JAG1): c.2840delA (p.Lys947Serfs) deletion Pathogenic rs1060501349 GRCh38 Chromosome 20, 10641536: 10641536
36 JAG1 NM_000214.2(JAG1): c.3006C> A (p.Cys1002Ter) single nucleotide variant Pathogenic rs372984801 GRCh37 Chromosome 20, 10621803: 10621803
37 JAG1 NM_000214.2(JAG1): c.2844C> A (p.Cys948Ter) single nucleotide variant Pathogenic rs1060501352 GRCh38 Chromosome 20, 10641532: 10641532
38 JAG1 NM_000214.2(JAG1): c.1353dupT (p.Asn452Terfs) duplication Pathogenic GRCh38 Chromosome 20, 10649103: 10649103
39 JAG1 NM_000214.2(JAG1): c.2688G> A (p.Trp896Ter) single nucleotide variant Pathogenic rs1060501350 GRCh38 Chromosome 20, 10641688: 10641688
40 JAG1 NM_000214.2(JAG1): c.543T> A (p.Tyr181Ter) single nucleotide variant Pathogenic rs1060501351 GRCh38 Chromosome 20, 10658619: 10658619
41 JAG1 NM_000214.2(JAG1): c.2966dupT (p.Leu989Phefs) duplication Pathogenic GRCh38 Chromosome 20, 10641195: 10641195

Copy number variations for Alagille Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 150534 20 10579088 10584793 Deletion JAG1 Alagille syndrome
2 154921 20 5000000 17800000 Microdeletion Alagille syndrome
3 154984 20 5100000 25600000 Deletion Alagille syndrome

Expression for Alagille Syndrome

Search GEO for disease gene expression data for Alagille Syndrome.

Pathways for Alagille Syndrome

Pathways related to Alagille Syndrome according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 EGF HEY2 JAG1 NOTCH1 NOTCH2
2
Show member pathways
12.46 APOA1 APOC2 APOC3 APOE
3
Show member pathways
12.33 HEY2 JAG1 NOTCH1 NOTCH2
4
Show member pathways
12.04 APOA1 APOC2 APOC3 APOE LCAT LPA
5
Show member pathways
12 APOA1 APOC2 APOC3 APOE
6
Show member pathways
11.86 JAG1 NOTCH1 NOTCH2
7
Show member pathways
11.65 APOA1 APOE SCARB1
8 11.55 JAG1 NOTCH1 NOTCH2
9 11.48 EGF NOTCH1 NOTCH2
10 11.47 HEY2 NOTCH1 NOTCH2 TWIST1
11 11.18 HEY2 NOTCH1 TWIST1
12 10.98 APOA1 APOC3
13 10.94 APOA1 SCARB1
14
Show member pathways
10.93 APOA1 APOC2 APOC3 APOE LCAT SCARB1
15 10.86 JAG1 NOTCH1 NOTCH2
16 10.77 JAG1 NOTCH1
17 10.71 JAG1 NOTCH1

GO Terms for Alagille Syndrome

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.76 ABCB4 ATP8B1 JAG1 NOTCH1
2 early endosome GO:0005769 9.73 APOA1 APOC2 APOC3 APOE
3 receptor complex GO:0043235 9.67 EGF NOTCH1 NOTCH2
4 high-density lipoprotein particle GO:0034364 9.56 APOA1 APOC2 APOE LCAT
5 low-density lipoprotein particle GO:0034362 9.54 APOA1 APOC2 APOE
6 spherical high-density lipoprotein particle GO:0034366 9.5 APOA1 APOC2 APOC3
7 endocytic vesicle lumen GO:0071682 9.48 APOA1 APOE
8 very-low-density lipoprotein particle GO:0034361 9.46 APOA1 APOC2 APOC3 APOE
9 chylomicron GO:0042627 9.26 APOA1 APOC2 APOC3 APOE
10 intermediate-density lipoprotein particle GO:0034363 8.92 APOA1 APOC2 APOC3 APOE
11 extracellular region GO:0005576 10.1 APOA1 APOC2 APOC3 APOE EGF JAG1

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

(show top 50) (show all 69)
id Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.91 HEY2 JAG1 NOTCH1 NOTCH2
2 steroid metabolic process GO:0008202 9.9 APOA1 APOE LCAT
3 retinoid metabolic process GO:0001523 9.89 APOA1 APOC2 APOC3 APOE
4 cholesterol metabolic process GO:0008203 9.88 APOA1 APOE LCAT
5 lipid transport GO:0006869 9.86 ABCB4 APOA1 APOC2 APOC3 APOE ATP8B1
6 negative regulation of cell differentiation GO:0045596 9.85 JAG1 NOTCH1 TWIST1
7 phospholipid efflux GO:0033700 9.83 APOA1 APOC2 APOC3 APOE
8 phospholipid transport GO:0015914 9.81 APOA1 ATP8B1 SCARB1
9 chylomicron assembly GO:0034378 9.81 APOA1 APOC2 APOC3 APOE
10 pulmonary valve morphogenesis GO:0003184 9.8 HEY2 JAG1 NOTCH1 NOTCH2
11 triglyceride homeostasis GO:0070328 9.8 APOA1 APOC2 APOC3 APOE SCARB1
12 cholesterol homeostasis GO:0042632 9.8 APOA1 APOC2 APOC3 APOE LCAT SCARB1
13 triglyceride catabolic process GO:0019433 9.78 APOA1 APOC3 APOE
14 chylomicron remodeling GO:0034371 9.78 APOA1 APOC2 APOC3 APOE
15 cholesterol transport GO:0030301 9.77 APOA1 LCAT SCARB1
16 cholesterol efflux GO:0033344 9.77 APOA1 APOC2 APOC3 APOE SCARB1
17 lipoprotein biosynthetic process GO:0042158 9.76 APOA1 APOE LCAT
18 high-density lipoprotein particle clearance GO:0034384 9.76 APOA1 APOC2 APOE SCARB1
19 cardiac septum morphogenesis GO:0060411 9.75 HEY2 JAG1 NOTCH1
20 lipid homeostasis GO:0055088 9.74 ABCB4 APOE
21 phospholipid translocation GO:0045332 9.74 ABCB4 ATP8B1
22 drug transmembrane transport GO:0006855 9.74 ABCB4 ATP8B1
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.74 HEY2 NOTCH1
24 neuronal stem cell population maintenance GO:0097150 9.74 JAG1 NOTCH1
25 chylomicron remnant clearance GO:0034382 9.74 APOC2 APOC3 APOE
26 positive regulation of nitric-oxide synthase activity GO:0051000 9.73 APOE SCARB1
27 cell fate determination GO:0001709 9.73 JAG1 NOTCH2
28 endothelial cell proliferation GO:0001935 9.73 APOA1 SCARB1
29 endocardial cushion morphogenesis GO:0003203 9.73 NOTCH1 TWIST1
30 Notch signaling involved in heart development GO:0061314 9.73 HEY2 JAG1 NOTCH1 NOTCH2
31 ventricular trabecula myocardium morphogenesis GO:0003222 9.72 HEY2 NOTCH1
32 intestinal absorption GO:0050892 9.72 ABCB4 SCARB1
33 high-density lipoprotein particle assembly GO:0034380 9.72 APOA1 APOE
34 low-density lipoprotein particle remodeling GO:0034374 9.72 APOE LPA
35 cardiac epithelial to mesenchymal transition GO:0060317 9.72 HEY2 NOTCH1
36 very-low-density lipoprotein particle remodeling GO:0034372 9.72 APOC2 APOE LCAT
37 negative regulation of stem cell differentiation GO:2000737 9.71 JAG1 NOTCH1
38 atrial septum morphogenesis GO:0060413 9.71 HEY2 NOTCH2
39 cardiac right ventricle morphogenesis GO:0003215 9.71 HEY2 JAG1
40 positive regulation of fatty acid biosynthetic process GO:0045723 9.71 APOA1 APOC2
41 regulation of Cdc42 protein signal transduction GO:0032489 9.71 APOA1 APOC3 APOE
42 response to muramyl dipeptide GO:0032495 9.7 JAG1 NOTCH1
43 cholesterol catabolic process GO:0006707 9.7 APOE SCARB1
44 positive regulation of lipoprotein lipase activity GO:0051006 9.7 APOA1 APOC2
45 cardiac ventricle morphogenesis GO:0003208 9.7 HEY2 NOTCH1
46 lipoprotein metabolic process GO:0042157 9.7 APOA1 APOC2 APOC3 APOE LCAT LPA
47 cardiac left ventricle morphogenesis GO:0003214 9.69 HEY2 NOTCH1
48 blood vessel endothelial cell migration GO:0043534 9.69 APOA1 SCARB1
49 positive regulation of cholesterol esterification GO:0010873 9.69 APOA1 APOE
50 positive regulation of triglyceride catabolic process GO:0010898 9.68 APOA1 APOC2

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.95 APOC2 APOE HEY2 SCARB1 TWIST1
2 lipid binding GO:0008289 9.78 APOA1 APOC2 APOC3 APOE
3 Notch binding GO:0005112 9.54 JAG1 NOTCH1
4 cholesterol transporter activity GO:0017127 9.52 APOA1 APOE
5 apolipoprotein binding GO:0034185 9.51 LPA SCARB1
6 cholesterol binding GO:0015485 9.5 APOA1 APOC3 APOE
7 phospholipid transporter activity GO:0005548 9.49 ABCB4 APOA1
8 high-density lipoprotein particle binding GO:0008035 9.46 APOA1 SCARB1
9 lipoprotein particle binding GO:0071813 9.43 APOA1 APOE
10 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.4 APOA1 APOE
11 apolipoprotein A-I binding GO:0034186 9.37 LCAT SCARB1
12 lipid transporter activity GO:0005319 9.33 APOA1 APOE ATP8B1
13 high-density lipoprotein particle receptor binding GO:0070653 9.26 APOA1 APOC3
14 phospholipid binding GO:0005543 9.26 APOA1 APOC3 APOE JAG1
15 lipase inhibitor activity GO:0055102 8.8 APOA1 APOC2 APOC3

Sources for Alagille Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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