MCID: ALG002
MIFTS: 70

Alagille Syndrome malady

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

Aliases & Classifications for Alagille Syndrome

About this section
Sources:
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 25GTR, 66UMLS, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alagille Syndrome:

Name: Alagille Syndrome 50 33 11 69 22 46 23 24 13 52 68 12 48 37
Arteriohepatic Dysplasia 11 22 46 23 24 52 25
Alagille-Watson Syndrome 11 46 24 52 68
Alagille Syndrome 1 50 68 25 66
Cholestasis with Peripheral Pulmonary Stenosis 46 24 68
Hepatic Ductular Hypoplasia 46 24 66
Syndromic Bile Duct Paucity 22 23 52
Hepatofacioneurocardiovertebral Syndrome 46 24
Paucity of Interlobular Bile Ducts 46 24
Cardiovertebral Syndrome 46 24
Watson-Miller Syndrome 46 24
Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation 52
Alagille-Watson Syndrome Due to a Jag1 Point Mutation 52
Arteriohepatic Dysplasia Due to a Jag1 Point Mutation 52
 
Syndromic Bile Duct Paucity Due to Monosomy 20p12 52
Alagille Syndrome Due to a Jag1 Point Mutation 52
Alagille-Watson Syndrome Due to Monosomy 20p12 52
Arteriohepatic Dysplasia Due to Monosomy 20p12 52
Alagille Syndrome Due to 20p12 Microdeletion 52
Alagille Syndrome Due to Monosomy 20p12 52
Alagille Syndrome Due to Del(20)(p12) 52
Hypoplasia Hepatic Ductular 46
Watson Alagille Syndrome 46
Alagille's Syndrome 24
Algs1 68
Algs 68
Aws 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
alagille syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset, incomplete penetrance


Classifications:



External Ids:

OMIM50 118450
Disease Ontology11 DOID:9245
ICD1028 Q44.7
MeSH37 D016738
NCIt43 C35139
SNOMED-CT60 31742004
UMLS via Orphanet67 C0085280
ICD10 via Orphanet29 Q44.7
MESH via Orphanet38 D016738

Summaries for Alagille Syndrome

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OMIM:50 Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic... (118450) more...

MalaCards based summary: Alagille Syndrome, also known as arteriohepatic dysplasia, is related to alagille syndrome 2 and jag1-related alagille syndrome, and has symptoms including biliary tract abnormality, corneal dystrophy and ventricular septal defect. An important gene associated with Alagille Syndrome is JAG1 (Jagged 1), and among its related pathways are Dorso-ventral axis formation and NOTCH2 Activation and Transmission of Signal to the Nucleus. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are endocrine/exocrine gland and cardiovascular system.

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.

NIH Rare Diseases:46 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:68 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:24 Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.

Wikipedia:69 Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the... more...

GeneReviews summary for NBK1273

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

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1alagille syndrome 212.2
2jag1-related alagille syndrome12.0
3notch2-related alagille syndrome12.0
4glycogen storage disease ixc10.9
5intellectual disability-developmental delay-contractures syndrome10.5APOA1, LCAT
6alzheimer disease 19, late onset10.5LCAT, LPA
7tyrosinemia, type ii10.4APOA1, LCAT
8trabecular follicular adenocarcinoma10.4EGF, MME
9polyneuropathy10.3APOA1, LCAT, LPA
10bladder diverticulum10.3APOA1, LCAT, LPA
11cholestasis10.2
12fetal methyl mercury syndrome10.2APOA1, LCAT
13rubinstein taybi like syndrome10.2APOA1, LPA
14prune belly syndrome10.2
15aneurysm10.2
16obesity, hyperphagia, and developmental delay10.2APOA1, LCAT, LPA
17hepatitis10.2
18biliary atresia10.2
19surf1-related charcot-marie-tooth disease type 410.2APOA1, EGF, SCARB1
20mirage syndrome10.1JAG1, NOTCH1, NOTCH2
21neuritis10.1JAG1, NOTCH1
22hajdu-cheney syndrome10.1JAG1, NOTCH1, NOTCH2
23hepatocellular carcinoma10.1
24testicular trophoblastic tumor10.1HEY2, JAG1, NOTCH1
25blue toe syndrome10.1APOC2, LCAT
26hyperlipidemia, familial combined10.1APOA1, APOC3, LCAT
27chondromalacia10.0EGF, JAG1, NOTCH1
28keratoacanthoma10.0APOA1, APOC3, LPA
29liver disease10.0
30hardikar syndrome10.0
31biliary atresia, extrahepatic10.0
32moyamoya disease9.9
33atherosclerosis9.9
34craniosynostosis9.9
35intrahepatic cholestasis9.9
36cerebritis9.9
37retinitis9.9
38chorioretinitis9.9
39intracranial hypertension9.9
40cerebral aneurysms9.9
41brachyolmia9.9EGF, MME, NOTCH1
42chondrocalcinosis with early-onset osteoarthritis9.8APOA1, APOC3, LCAT, LPA
43apolipoprotein c-iii deficiency9.8APOA1, APOC3, LCAT, LPA
44cataract 5, multiple types9.8APOA1, APOC3, LCAT, SCARB1
45autoimmune hepatitis9.8APOA1, APOC2, LPA
46coronary artery disease9.8APOA1, APOC3, LCAT, LPA
47wolff-parkinson-white syndrome9.7
48wilson disease9.7
49steatocystoma multiplex9.7
50pulmonic stenosis9.7

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:

 52 (show all 43)
  • cryptorchidism
  • abnormality of the ureter
  • nephrotic syndrome
  • brachycephaly
  • coarse facial features
  • pointed chin
  • round face
  • hypertelorism
  • short philtrum
  • micrognathia
  • protruding ear
  • strabismus
  • deeply set eye
  • downslanted palpebral fissures
  • keratoconus
  • abnormality of the pupil
  • abnormality of the ribs
  • hypertension
  • delayed puberty
  • corneal dystrophy
  • intellectual disability, mild
  • specific learning disability
  • cholestasis
  • failure to thrive
  • intrauterine growth retardation
  • ventricular septal defect
  • defect in the atrial septum
  • frontal bossing
  • hepatomegaly
  • delayed skeletal maturation
  • hypoplasia of the ulna
  • long nose
  • spina bifida occulta
  • abnormal form of the vertebral bodies
  • vertebral segmentation defect
  • clinodactyly of the 5th finger
  • butterfly vertebral arch
  • peripheral pulmonary artery stenosis
  • reduced number of intrahepatic bile ducts
  • renal hypoplasia/aplasia
  • short distal phalanx of finger
  • flat face
  • teleangiectasia of the skin

HPO human phenotypes related to Alagille Syndrome:

(show all 84)
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 telangiectasia 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 vesicoureteral reflux HP:0000076
40 renal hypoplasia HP:0000089
41 renal dysplasia HP:0000110
42 hypertelorism HP:0000316
43 triangular face HP:0000325
44 broad forehead HP:0000337
45 macrotia HP:0000400
46 microcornea HP:0000482
47 strabismus HP:0000486
48 deeply set eye HP:0000490
49 cataract HP:0000518
50 chorioretinal atrophy HP:0000533
51 myopia HP:0000545
52 upslanted palpebral fissure HP:0000582
53 band keratopathy HP:0000585
54 posterior embryotoxon HP:0000627
55 abnormality of the ribs HP:0000772
56 intellectual disability, mild HP:0001256
57 areflexia HP:0001284
58 stroke HP:0001297
59 specific learning disability HP:0001328
60 cirrhosis HP:0001394
61 hepatocellular carcinoma HP:0001402
62 axenfeld anomaly HP:0001492
63 failure to thrive HP:0001508
64 ventricular septal defect HP:0001629
65 atria septal defect HP:0001631
66 tetralogy of fallot HP:0001636
67 coarctation of aorta HP:0001680
68 exocrine pancreatic insufficiency HP:0001738
69 renal tubular acidosis HP:0001947
70 hypertriglyceridemia HP:0002155
71 papillary thyroid carcinoma HP:0002895
72 elevated hepatic transaminases HP:0002910
73 hemivertebrae HP:0002937
74 hypoplasia of the ulna HP:0003022
75 hypercholesterolemia HP:0003124
76 long nose HP:0003189
77 butterfly vertebral arch HP:0004617
78 peripheral pulmonary artery stenosis HP:0004969
79 depressed nasal bridge HP:0005280
80 reduced number of intrahepatic bile ducts HP:0006571
81 prolonged neonatal jaundice HP:0006579
82 pigmentary retinal deposits HP:0007702
83 multiple small medullary renal cysts HP:0008659
84 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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1calcium channel blockers1889
2
Magnesium Sulfate1597487-88-924083
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
3
Pancrelipase91753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
4pancreatin917

Interventional clinical trials:

(show all 12)
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 Pediatric Subjects With Alagille SyndromeRecruitingNCT02117713Phase 2
3Evaluation of LUM001 in the Reduction of Pruritus in Alagille SyndromeActive, not recruitingNCT02057692Phase 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
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
12FibroScan™ in Pediatric Cholestatic Liver Disease Study ProtocolNot yet recruitingNCT02922751

Search NIH Clinical Center for Alagille Syndrome


Cochrane evidence based reviews: alagille syndrome

Genetic Tests for Alagille Syndrome

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Genetic tests related to Alagille Syndrome:

id Genetic test Affiliating Genes
1 Alagille Syndrome 125
2 Arteriohepatic Dysplasia25
3 Alagille Syndrome23 NOTCH2

Anatomical Context for Alagille Syndrome

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MalaCards organs/tissues related to Alagille Syndrome:

34
Liver, Heart, Kidney, Eye, Skin, Thyroid, Bone

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

Cells/anatomical compartments in embryo or adult related to Alagille Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest Cells Affected by disease
2 LiverIntrahepatic Biliary TreeImmature Biliary Epithelial Cells Affected by disease

Animal Models for Alagille Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Alagille Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.4ABCB4, APOA1, EGF, JAG1, LCAT, NOTCH1
2MP:00053857.1ABCB4, APOA1, HEY2, HGF, JAG1, LCAT
3MP:00053706.5ABCB4, APOA1, ATP8B1, HEY2, HGF, JAG1
4MP:00053766.1ABCB4, APOA1, APOC2, ATP8B1, HEY2, JAG1

Publications for Alagille Syndrome

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Articles related to Alagille Syndrome:

(show top 50)    (show all 361)
idTitleAuthorsYear
1
Pretransplant management of basilar artery aneurysm and moyamoya disease in a child with Alagille syndrome. (26043700)
2015
2
Unusual clinical manifestations in a case of Alagille syndrome. (25333075)
2014
3
Impact of Percutaneous Interventions for Pulmonary Artery Stenosis in Alagille Syndrome. (25227273)
2014
4
Management of cholestatic pruritus in paediatric patients with alagille syndrome: the King's college hospital experience. (23619030)
2013
5
A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment. (23898221)
2013
6
Renal anomalies in Alagille syndrome: a disease-defining feature. (22105858)
2012
7
Alagille syndrome: spectrum of clinical presentation in India. (22692667)
2012
8
Alagille syndrome: pathogenesis, diagnosis and management. (21934706)
2012
9
Macrodontic maxillary incisor in alagille syndrome. (23814595)
2012
10
Pancreatic insufficiency is not a prevalent problem in Alagille syndrome. (22614108)
2012
11
NOTCH2 mutations in Alagille syndrome. (22209762)
2012
12
Perthes-like disease in Alagille syndrome. (21642856)
2011
13
Reversible diffuse white matter lesion in Alagille syndrome. (21723462)
2011
14
A Chinese girl molecularly diagnosed with Alagille syndrome. (20706826)
2010
15
Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome. (19694049)
2009
16
Alagille syndrome associated with myelinated retinal nerve fibers. (19571600)
2009
17
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. (18688871)
2008
18
Rare association of a patient with Alagille syndrome and mitral valve regurgitation. (17721851)
2007
19
The cardiovascular manifestations of Alagille syndrome and JAGI mutations. (16930015)
2006
20
Alagille syndrome and aneurysmal subarachnoid hemorrhage. Case report and review of the literature. (16357504)
2006
21
Severe peripheral pulmonary artery stenosis is not a contraindication to liver transplantation in Alagille syndrome. (16499598)
2006
22
Orthotopic liver transplantation for alagille syndrome. (15848660)
2005
23
Hepatocellular carcinoma in children with Alagille syndrome. (16254531)
2005
24
SR-BI- and ABCA1-mediated cholesterol efflux to serum from patients with Alagille syndrome. (15210845)
2004
25
Bleeding is a risk in alagille syndrome. (12872779)
2003
26
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. (12497640)
2003
27
From gene to disease: arteriohepatic dysplasia or Alagille syndrome]. (12848056)
2003
28
Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients. (11819079)
2002
29
Craniosynostosis in Alagille syndrome. (12244552)
2002
30
Liver transplantation in an adolescent with Alagille syndrome. (11498144)
2001
31
Hepatic nodular hyperplasia in a boy with Alagille syndrome: CT and MR appearances. (11550772)
2001
32
Alagille syndrome and the Jagged1 gene. (11745040)
2001
33
Abdominal coarctation and Alagille syndrome. (10878178)
2000
34
Apolipoprotein E polymorphism in alagille syndrome and progressive familial intrahepatic cholestasis. (10759233)
2000
35
Jagged-1 mutation analysis in Italian Alagille syndrome patients. (10533065)
1999
36
Alagille syndrome with cavernous carotid artery aneurysm. (10576615)
1999
37
Index of suspicion. Case 1. Alagille syndrome. (10473660)
1999
38
Macromastia in a newborn with Alagille syndrome. (10382209)
1999
39
Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome). (9890073)
1998
40
Renal transplantation in Alagille syndrome. (9481741)
1998
41
Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. (9268641)
1997
42
Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome. (9205123)
1997
43
Middle aortic syndrome in a boy with arteriohepatic dysplasia (Alagille syndrome). (9142719)
1997
44
Abnormal lipoprotein pattern in patients with Alagille syndrome depends on Icterus severity. (8831598)
1996
45
Liver transplantation in children with Alagille syndrome--a study of twelve cases. (7652762)
1995
46
Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes. (7873876)
1994
47
Angle closure glaucoma in Alagille syndrome. A case report. (8233352)
1993
48
Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. (8501153)
1993
49
Late recurrence of a hepatocellular carcinoma in a patient with incomplete Alagille syndrome. (2170223)
1990
50
Xanthomas in the Watson-Alagille syndrome. (3108338)
1987

Variations for Alagille Syndrome

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

68 (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_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_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 17)
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 variantPathogenicrs794727953GRCh38Chr 20, 10650274: 10650274
5JAG1NM_000214.2(JAG1): c.2895dupT (p.Asn966Terfs)duplicationPathogenicrs878853752GRCh38Chr 20, 10641481: 10641481
6JAG1JAG1, 2-BP DEL, 3098GTdeletionPathogenic
7JAG1JAG1, IVS23DS, G-C, +1single nucleotide variantPathogenic
8JAG1JAG1, 2-BP DEL, 1104AGdeletionPathogenic
9JAG1JAG1, 1-BP DEL, 2066CdeletionPathogenic
10JAG1NM_000214.2(JAG1): c.550C> T (p.Arg184Cys)single nucleotide variantPathogenicrs121918350GRCh37Chr 20, 10639260: 10639260
11JAG1NM_000214.2(JAG1): c.551G> A (p.Arg184His)single nucleotide variantPathogenicrs121918351GRCh37Chr 20, 10639259: 10639259
12JAG1JAG1, 5-BP DELdeletionPathogenic
13JAG1JAG1, 1-BP INS, 1618CinsertionPathogenic
14JAG1JAG1, 1-BP INS, 684GinsertionPathogenic
15JAG1NM_000214.2(JAG1): c.110T> C (p.Leu37Ser)single nucleotide variantPathogenicrs121918352GRCh37Chr 20, 10653626: 10653626
16JAG1JAG1, 2-BP DEL, 1485CTdeletionPathogenic
17JAG1JAG1, 1329, T-G, +2single nucleotide variantPathogenic

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 13)
idSuper pathwaysScoreTop Affiliating Genes
110.0NOTCH1, NOTCH2
2
Show member pathways
9.8JAG1, NOTCH1, NOTCH2
3
Show member pathways
9.8JAG1, NOTCH1, NOTCH2
49.8JAG1, NOTCH1, NOTCH2
59.7HEY2, NOTCH1, NOTCH2
69.7EGF, NOTCH1, NOTCH2
79.4APOA1, SCARB1
89.4EGF, HGF, NOTCH1
9
Show member pathways
9.2HGF, JAG1, NOTCH1, NOTCH2
109.2MME, NOTCH1, NOTCH2
11
Show member pathways
9.1EGF, HEY2, JAG1, NOTCH1, NOTCH2
12
Show member pathways
8.2APOA1, APOC2, APOC3, LCAT, SCARB1
13
Show member pathways
7.8APOA1, APOC2, APOC3, LCAT, LPA, SCARB1

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
1high-density lipoprotein particleGO:003436410.2APOA1, LCAT
2intermediate-density lipoprotein particleGO:003436310.2APOC2, APOC3
3receptor complexGO:004323510.2EGF, NOTCH1, NOTCH2
4chylomicronGO:00426279.6APOA1, APOC2, APOC3
5very-low-density lipoprotein particleGO:00343619.6APOA1, APOC2, APOC3
6spherical high-density lipoprotein particleGO:00343669.5APOA1, APOC2, APOC3
7apical plasma membraneGO:00163249.4ABCB4, ATP8B1, JAG1, NOTCH1
8integral component of plasma membraneGO:00058878.1ABCB4, ATP8B1, JAG1, MME, NOTCH2, SCARB1
9extracellular spaceGO:00056157.9APOA1, APOC2, APOC3, EGF, HGF, LCAT
10extracellular regionGO:00055766.9APOA1, APOC2, APOC3, EGF, HGF, JAG1
11extracellular exosomeGO:00700626.8ABCB4, APOA1, APOC2, APOC3, EGF, LCAT

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

(show top 50)    (show all 55)
idNameGO IDScoreTop Affiliating Genes
1distal tubule developmentGO:007201710.6JAG1, NOTCH1
2regulation of auditory receptor cell differentiationGO:004560710.6HEY2, NOTCH1
3negative regulation of stem cell differentiationGO:200073710.5JAG1, NOTCH1
4arterial endothelial cell differentiationGO:006084210.5HEY2, NOTCH1
5response to muramyl dipeptideGO:003249510.5JAG1, NOTCH1
6cardiac vascular smooth muscle cell developmentGO:006094810.5HEY2, NOTCH1
7cardiac right ventricle morphogenesisGO:000321510.5HEY2, JAG1
8cardiac epithelial to mesenchymal transitionGO:006031710.4HEY2, NOTCH1
9mesenchymal cell developmentGO:001403110.4HEY2, NOTCH1
10positive regulation of cardiac muscle cell proliferationGO:006004510.4HEY2, NOTCH1
11pulmonary artery morphogenesisGO:006115610.4HEY2, JAG1
12drug transmembrane transportGO:000685510.4ABCB4, ATP8B1
13phospholipid translocationGO:004533210.4ABCB4, ATP8B1
14cardiac left ventricle morphogenesisGO:000321410.3HEY2, NOTCH1
15atrial septum morphogenesisGO:006041310.3HEY2, NOTCH2
16neuronal stem cell population maintenanceGO:009715010.2JAG1, NOTCH1
17lipoprotein biosynthetic processGO:004215810.2APOA1, LCAT
18very-low-density lipoprotein particle remodelingGO:003437210.1APOC2, LCAT
19negative regulation of lipid metabolic processGO:004583310.1APOC2, APOC3
20negative regulation of very-low-density lipoprotein particle clearanceGO:001091610.1APOC2, APOC3
21chylomicron remnant clearanceGO:003438210.1APOC2, APOC3
22cardiac ventricle morphogenesisGO:000320810.1HEY2, NOTCH1
23negative regulation of receptor-mediated endocytosisGO:004826110.0APOC2, APOC3
24cell fate determinationGO:000170910.0JAG1, NOTCH2
25blood vessel endothelial cell migrationGO:004353410.0APOA1, SCARB1
26negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.0APOA1, APOC3
27ventricular trabecula myocardium morphogenesisGO:000322210.0HEY2, NOTCH1
28regulation of Cdc42 protein signal transductionGO:003248910.0APOA1, APOC3
29cardiac septum morphogenesisGO:006041110.0HEY2, JAG1, NOTCH1
30pulmonary valve morphogenesisGO:000318410.0HEY2, JAG1, NOTCH1, NOTCH2
31positive regulation of fatty acid biosynthetic processGO:00457239.9APOA1, APOC2
32positive regulation of triglyceride biosynthetic processGO:00108679.9APOC3, SCARB1
33cholesterol importGO:00705089.9APOA1, SCARB1
34positive regulation of lipoprotein lipase activityGO:00510069.9APOA1, APOC2
35positive regulation of triglyceride catabolic processGO:00108989.9APOA1, APOC2
36cholesterol transportGO:00303019.6APOA1, LCAT, SCARB1
37high-density lipoprotein particle clearanceGO:00343849.5APOA1, APOC2, SCARB1
38phospholipid effluxGO:00337009.5APOA1, APOC2, APOC3
39Notch signaling involved in heart developmentGO:00613149.5HEY2, JAG1, NOTCH1, NOTCH2
40animal organ regenerationGO:00311009.4APOA1, HGF, NOTCH1
41platelet degranulationGO:00025769.4APOA1, EGF, HGF
42Notch signaling pathwayGO:00072199.4HEY2, JAG1, NOTCH1, NOTCH2
43high-density lipoprotein particle remodelingGO:00343759.1APOA1, APOC3, LCAT, SCARB1
44retinoid metabolic processGO:00015239.1APOA1, APOC2, APOC3
45endothelial cell proliferationGO:00019359.1APOA1, SCARB1
46cholesterol effluxGO:00333449.0APOA1, APOC2, APOC3, SCARB1
47triglyceride homeostasisGO:00703288.9APOA1, APOC2, APOC3, SCARB1
48reverse cholesterol transportGO:00436918.6APOA1, APOC2, APOC3, LCAT, SCARB1
49cholesterol homeostasisGO:00426328.5APOA1, APOC2, APOC3, LCAT, SCARB1
50lipoprotein metabolic processGO:00421578.2APOA1, APOC2, APOC3, LCAT, LPA, SCARB1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein A-I bindingGO:003418610.2LCAT, SCARB1
2Notch bindingGO:000511210.0JAG1, NOTCH1
3apolipoprotein bindingGO:003418510.0LPA, SCARB1
4high-density lipoprotein particle receptor bindingGO:00706539.8APOA1, APOC3
5lipid transporter activityGO:00053199.8APOA1, ATP8B1
6high-density lipoprotein particle bindingGO:00080359.7APOA1, SCARB1
7phospholipid transporter activityGO:00055489.5ABCB4, APOA1
8lipase inhibitor activityGO:00551029.2APOA1, APOC2, APOC3

Sources for Alagille Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet