ALGS1
MCID: ALG028
MIFTS: 72

Alagille Syndrome 1 (ALGS1)

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

Aliases & Classifications for Alagille Syndrome 1

MalaCards integrated aliases for Alagille Syndrome 1:

Name: Alagille Syndrome 1 57 75 29 6 73
Alagille Syndrome 57 38 12 76 24 53 25 59 75 37 13 55 44 15 40
Arteriohepatic Dysplasia 57 12 24 53 25 59 29 6
Alagille-Watson Syndrome 57 12 53 25 59 75
Cholestasis with Peripheral Pulmonary Stenosis 57 53 25 75
Hepatic Ductular Hypoplasia 53 25 73
Hepatofacioneurocardiovertebral Syndrome 53 25
Paucity of Interlobular Bile Ducts 53 25
Syndromic Bile Duct Paucity 24 59
Cardiovertebral Syndrome 53 25
Watson-Miller Syndrome 53 25
Algs1 57 75
Algs 57 75
Aws 57 75
Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation 59
Alagille-Watson Syndrome Due to a Jag1 Point Mutation 59
Arteriohepatic Dysplasia Due to a Jag1 Point Mutation 59
Syndromic Bile Duct Paucity Due to Monosomy 20p12 59
Alagille-Watson Syndrome Due to Monosomy 20p12 59
Arteriohepatic Dysplasia Due to Monosomy 20p12 59
Alagille Syndrome Due to a Jag1 Point Mutation 59
Alagille Syndrome Due to 20p12 Microdeletion 59
Hepatic Ductular Hypoplasia, Syndromatic 57
Alagille Syndrome Due to Monosomy 20p12 59
Alagille Syndrome Due to Del(20)(p12) 59
Alagille-Watson Syndrome; Aws 57
Arteriohepatic Dysplasia; Ahd 57
Hypoplasia Hepatic Ductular 53
Watson Alagille Syndrome 53
Alagille Syndrome; Algs 57
Alagillewatson Syndrome 76
Alagille's Syndrome 25
Ahd 57

Characteristics:

Orphanet epidemiological data:

59
alagille syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Australia),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
incomplete penetrance
variable expression
prevalence of 1 in 70,000


HPO:

32
alagille syndrome 1:
Onset and clinical course incomplete penetrance infantile onset
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Algs demonstrates highly variable expressivity with clinical features ranging from subclinical to severe...

Classifications:



Summaries for Alagille Syndrome 1

NIH Rare Diseases : 53 Alagille syndrome is a genetic syndrome that can affect the liver and other parts of the body. The liver problems result from having fewer small bile ducts than normal in the liver. This leads to bile building-up inside the liver, which in turn causes liver scarring and damage. Signs and symptoms of Alagille syndrome are generally noticed in infancy or early childhood. Type of symptoms and severity varies greatly, even among people in the same family, so that in some cases the symptoms are severe, and in others, very mild. The liver problems may be the first symptoms of the syndrome, and may include yellow color of the skin and whites of the eyes (jaundice); itchy skin; bumps on the skin caused by deposits of cholesterol and fats (xanthomas); pale, loose bowel movements; and poor growth. Alagille syndrome can also affect other parts of the body including the heart, brain, kidneys, blood vessels, eyes, face, and skeleton. People with Alagille syndrome may have distinctive facial features too, including a broad, prominent forehead, deep-set eyes, and a small, pointed chin. Alagille syndrome is caused by changes or mutations in the JAG1 and NOTCH2 genes.  Inheritance is autosomal dominant. However, in about half of cases the mutation occurs as a new change ("de novo") without being inherited from either parents. While there is no known cure for Alagille syndrome, there are treatments that can help control symptoms. Possible treatments may include medication that increases the flow of bile and careful management of diet to minimize nutrition and vitamin related problems. In severe cases, a liver transplant may be necessary.

MalaCards based summary : Alagille Syndrome 1, also known as alagille syndrome, is related to cholestasis and progressive familial intrahepatic cholestasis. An important gene associated with Alagille Syndrome 1 is JAG1 (Jagged 1), and among its related pathways/superpathways are Notch signaling pathway and PI3K-Akt signaling pathway. Affiliated tissues include Head Mesenchyme and Liver, and related phenotypes are hypertelorism and frontal bossing

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.

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

OMIM : 57 Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012). Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. (118450)

UniProtKB/Swiss-Prot : 75 Alagille syndrome 1: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.

Wikipedia : 76 Alagille syndrome, Alagille-Watson syndrome or ALGS, is an autosomal dominant genetic disorder that... more...

GeneReviews: NBK1273

Related Diseases for Alagille Syndrome 1

Diseases in the Alagille Syndrome 1 family:

Alagille Syndrome 2

Diseases related to Alagille Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 cholestasis 30.2 JAG1 ATP8B1 ABCB4 ABCB11
2 progressive familial intrahepatic cholestasis 29.9 ATP8B1 ABCB4 ABCB11
3 liver disease 29.9 ATP8B1 ABCB4 ABCB11
4 tetralogy of fallot 29.7 NOTCH1 JAG1 HEY2
5 alagille syndrome 2 12.5
6 allan-herndon-dudley syndrome 11.7
7 lambert syndrome 11.5
8 alveolar echinococcosis 11.1
9 glycogen storage disease ixc 11.1
10 biliary atresia, extrahepatic 11.1
11 bile acid synthesis defect, congenital, 2 11.1
12 bile acid synthesis defect, congenital, 1 11.1
13 hardikar syndrome 11.1
14 mct8-specific thyroid hormone cell-membrane transporter deficiency 10.4
15 prune belly syndrome 10.3
16 exocrine pancreatic insufficiency 10.3
17 biliary atresia 10.3
18 aplastic anemia 10.3
19 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.3
20 watson syndrome 10.2
21 hepatocellular carcinoma 10.2
22 lacrimal gland adenoid cystic carcinoma 10.2 NOTCH2 NOTCH1
23 ossifying fibroma 10.1 NOTCH1 JAG1
24 lung adenoma 10.1 NOTCH2 NOTCH1
25 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1 NOTCH1 JAG1
26 granulomatous angiitis 10.1 NOTCH1 JAG1
27 biliary hypoplasia 10.1
28 withdrawal disorder 10.1
29 nephronophthisis 9 10.1 NOTCH2 JAG1
30 nodular regenerative hyperplasia 10.1 NOTCH2 NOTCH1 JAG1
31 peripheral pulmonary stenosis 10.1
32 spondylocostal dysostosis 3, autosomal recessive 10.1 NOTCH1 MESP2
33 diarrhea 10.1
34 renal-hepatic-pancreatic dysplasia 10.0 NOTCH2 JAG1
35 pure red-cell aplasia 10.0
36 macrophagic myofasciitis 10.0
37 prostate cancer 10.0
38 tricuspid valve stenosis 10.0 NOTCH1 JAG1 HEY2
39 williams-beuren syndrome 10.0
40 moyamoya disease 1 10.0
41 craniosynostosis 10.0
42 heart disease 10.0
43 intracranial hypertension 10.0
44 cerebral aneurysms 10.0
45 oliver syndrome 10.0 RBPJ NOTCH1
46 atp8b1 deficiency 10.0 ATP8B1 ABCB11
47 aplasia cutis congenita 10.0 RBPJ NOTCH1
48 cholestasis, benign recurrent intrahepatic, 2 10.0 ATP8B1 ABCB11
49 burkitt lymphoma 9.9
50 multiple sclerosis 9.9

Graphical network of the top 20 diseases related to Alagille Syndrome 1:



Diseases related to Alagille Syndrome 1

Symptoms & Phenotypes for Alagille Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
myopia
posterior embryotoxon
microcornea
more
Head And Neck Nose:
depressed nasal bridge
long nose with bulbous tip

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
ventricular septal defect
peripheral pulmonary artery stenosis

Abdomen Liver:
cirrhosis
cholestasis
intrahepatic duct deficiency
liver disease, progressive

Genitourinary Kidneys:
vesicoureteral reflux
renal dysplasia
renal tubular acidosis
renal involvement (in 39%)
small kidneys
more
Neoplasia:
hepatocellular carcinoma
papillary thyroid carcinoma

Skeletal Hands:
short distal phalanges

Chest Ribs Sternum Clavicles And Scapulae:
rib anomalies

Abdomen Biliary Tract:
extrahepatic duct involvement

Neurologic Central Nervous System:
mental retardation, mild, (in some patients)
learning disability

Growth Other:
failure to thrive

Laboratory Abnormalities:
hypertriglyceridemia
hypercholesterolemia
increased conjugated bilirubin
elevated transaminases

Cardiovascular Vascular:
coarctation of aorta
cerebrovascular accidents
moyamoya syndrome

Head And Neck Face:
broad forehead
triangular face
prominent zygomatic arch

Skeletal Spine:
hemivertebrae
butterfly vertebral arch
vertebral anomalies

Head And Neck Ears:
large ears

Skeletal Limbs:
short ulnae

Abdomen Pancreas:
pancreatic insufficiency

Skin Nails Hair Skin:
jaundice, neonatal
xanthomas (in some patients)

Neurologic Peripheral Nervous System:
absent deep tendon reflexes


Clinical features from OMIM:

118450

Human phenotypes related to Alagille Syndrome 1:

59 32 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
6 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
7 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
8 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
9 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
10 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
11 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
12 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
13 corneal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001131
14 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
15 flat face 59 32 occasional (7.5%) Occasional (29-5%) HP:0012368
16 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
17 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
18 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
19 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
20 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
21 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
22 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
23 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
24 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
25 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
26 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
27 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
28 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
29 cholestasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001396
30 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
31 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
32 spina bifida occulta 59 32 frequent (33%) Frequent (79-30%) HP:0003298
33 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
34 peripheral pulmonary artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004969
35 short distal phalanx of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009882
36 abnormality of the ureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000069
37 keratoconus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000563
38 hypoplasia of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0003022
39 long nose 59 32 frequent (33%) Frequent (79-30%) HP:0003189
40 butterfly vertebral arch 59 32 frequent (33%) Frequent (79-30%) HP:0004617
41 reduced number of intrahepatic bile ducts 59 32 hallmark (90%) Very frequent (99-80%) HP:0006571
42 macrotia 32 HP:0000400
43 cataract 32 HP:0000518
44 depressed nasal bridge 32 HP:0005280
45 hypertriglyceridemia 32 HP:0002155
46 abnormal form of the vertebral bodies 59 Frequent (79-30%)
47 myopia 32 HP:0000545
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 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased vaccinia virus (VACV-LREV ) gene expression GR00351-A-2 8.62 ATP8B1 JAG1

MGI Mouse Phenotypes related to Alagille Syndrome 1:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 ABCB4 HEY2 JAG1 LCAT MESP2 NOTCH1
2 growth/size/body region MP:0005378 10.13 ABCB11 ABCB4 ATP8B1 HEY2 JAG1 MESP2
3 homeostasis/metabolism MP:0005376 10.09 ABCB11 ABCB4 ATP8B1 HEY2 JAG1 LCAT
4 embryo MP:0005380 10.05 HEY2 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ
5 endocrine/exocrine gland MP:0005379 10.04 ABCB4 JAG1 LCAT NOTCH1 NOTCH2 RBPJ
6 mortality/aging MP:0010768 10.02 ABCB11 ATP8B1 HEY2 JAG1 MESP2 NOTCH1
7 liver/biliary system MP:0005370 10.01 ABCB11 ABCB4 ATP8B1 HEY2 JAG1 LCAT
8 hematopoietic system MP:0005397 10 ABCB4 JAG1 LCAT NOTCH1 NOTCH2 RBPJ
9 digestive/alimentary MP:0005381 9.92 ABCB4 JAG1 NOTCH1 NOTCH2 RBPJ
10 muscle MP:0005369 9.8 HEY2 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ
11 nervous system MP:0003631 9.8 ATP8B1 HEY2 JAG1 MESP2 NOTCH1 NOTCH2
12 renal/urinary system MP:0005367 9.55 JAG1 LCAT NOTCH1 NOTCH2 RBPJ
13 respiratory system MP:0005388 9.35 ABCB11 HEY2 NOTCH1 NOTCH2 RBPJ
14 skeleton MP:0005390 9.1 ABCB4 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ

Drugs & Therapeutics for Alagille Syndrome 1

Search Clinical Trials , NIH Clinical Center for Alagille Syndrome 1

Cochrane evidence based reviews: alagille syndrome

Genetic Tests for Alagille Syndrome 1

Genetic tests related to Alagille Syndrome 1:

# Genetic test Affiliating Genes
1 Alagille Syndrome 1 29 JAG1
2 Arteriohepatic Dysplasia 29

Anatomical Context for Alagille Syndrome 1

MalaCards organs/tissues related to Alagille Syndrome 1:

41
Liver, Skin, Heart, Kidney, Eye, Brain, Thyroid
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alagille Syndrome 1:
# 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 1

Articles related to Alagille Syndrome 1:

(show top 50) (show all 420)
# Title Authors Year
1
Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations. ( 29162437 )
2018
2
Anterior Unilateral Plagiocephaly in Patient with Alagille Syndrome: Case Report. ( 29530693 )
2018
3
Hepatic Adenoma Arising in a Patient With Alagille Syndrome: A Case Report. ( 29516774 )
2018
4
Asymmetric Lateral Rectus Muscle Insertion Presenting as Esotropia in a Child With Alagille Syndrome. ( 30388280 )
2018
5
An Atypical Presentation of Alagille Syndrome. ( 29187043 )
2018
6
Experimental model: A new mouse model of Alagille syndrome. ( 29235546 )
2018
7
Spectrum of cerebral arterial and venous abnormalities in Alagille syndrome. ( 29362841 )
2018
8
A New Model of Alagille Syndrome With Broad Phenotypic Representation. ( 29425927 )
2018
9
Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome. ( 29543694 )
2018
10
Renal manifestations in children with Alagille syndrome. ( 29557611 )
2018
11
Surgical outcomes in Alagille syndrome and PFIC: A single institution's 20-year experience. ( 29729773 )
2018
12
Radiological changes of spine and liver in a case of Alagille syndrome. ( 29774190 )
2018
13
Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome. ( 29879405 )
2018
14
JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families. ( 29956768 )
2018
15
A Rare Case Of a 2 year old Boy With Alagille Syndrome & Type 3 Hereditary Hemochromatosis With TFR2 Mutation. ( 29985876 )
2018
16
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome. ( 30046498 )
2018
17
Outcomes of Alagille syndrome following the Kasai operation: a systematic review and meta-analysis. ( 30073479 )
2018
18
Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities. ( 30074189 )
2018
19
Successful living donor liver transplantation after stent implantation in a patient with Alagille syndrome and severe bilateral pulmonary artery stenosis. ( 30160645 )
2018
20
Alagille Syndrome. ( 30266153 )
2018
21
Placebo-Controlled Randomized Trial of an Intestinal Bile Salt Transport Inhibitor for Pruritus in Alagille Syndrome. ( 30288474 )
2018
22
Alagille syndrome: a case report. ( 30543192 )
2018
23
Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation. ( 28141679 )
2017
24
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. ( 28465853 )
2017
25
Frequency and pathogenesis of central liver nodules in Alagille syndrome patients: Reply to Libbrecht and Cassiman. ( 28478502 )
2017
26
Frequency and pathogenesis of central liver nodules in Alagille syndrome patients. ( 28474254 )
2017
27
Perioperative Management of Subarachnoid Hemorrhage in a Patient with Alagille Syndrome and Unrepaired Tetralogy of Fallot: Case Report. ( 29255712 )
2017
28
Imaging findings of Alagille syndrome in young infants: differentiation from biliary atresia. ( 28749707 )
2017
29
Giant hepatic regenerative nodules in Alagille syndrome. ( 27796468 )
2017
30
A case of Alagille syndrome presenting with chronic cholestasis in an adult. ( 28683534 )
2017
31
Xanthogranulomatous osteomyelitis of the humerus in a pediatric patient with Alagille syndrome: a case report and literature review. ( 28660405 )
2017
32
On the Pathogenesis of Central Liver Nodules in Alagille Syndrome. ( 28231074 )
2017
33
Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome. ( 28600057 )
2017
34
Clinical characteristics and outcome of liver transplantation for Alagille syndrome in children. ( 28644566 )
2017
35
Alagille syndrome with atypical phenotype diagnosed by molecular tests: unreported JAG1 mutation. ( 28648591 )
2017
36
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome. ( 28695677 )
2017
37
Leptochoroid in a Case of Alagille Syndrome (Arteriohepatic Dysplasia). ( 28734329 )
2017
38
Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method. ( 28901437 )
2017
39
Alagille Syndrome: An Overview. ( 29185945 )
2017
40
Alagille syndrome: Genetics and Functional Models. ( 29270332 )
2017
41
Extreme Renal Pathology in Alagille Syndrome. ( 29318215 )
2017
42
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome. ( 28090565 )
2016
43
Alagille syndrome: clinical perspectives. ( 27418850 )
2016
44
New JAG1 mutation causing Alagille Syndrome presenting with severe hypercholesterolemia: Case report with emphasis on genetics and lipid abnormalities. ( 27967296 )
2016
45
CT-defined phenotype of pulmonary artery stenoses in Alagille syndrome. ( 27041277 )
2016
46
Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review. ( 28492167 )
2016
47
Exocrine pancreatic function in children with Alagille syndrome. ( 27748459 )
2016
48
A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report. ( 27906097 )
2016
49
Central Liver Nodules in Alagille Syndrome and Biliary Atresia After Kasai Portoenterostomy. ( 27007399 )
2016
50
Alagille Syndrome Candidates for Liver Transplantation: Differentiation from End-Stage Biliary Atresia Using Preoperative CT. ( 26901874 )
2016

Variations for Alagille Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Alagille Syndrome 1:

75 (show all 49)
# 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 rs930247415
4 JAG1 p.Pro129Arg VAR_013189 rs103292090
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 rs876661123
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.Cys902Ser VAR_026330 rs876661122
47 JAG1 p.Cys911Tyr VAR_026332
48 JAG1 p.Ser913Arg VAR_026333
49 JAG1 p.Cys436Trp VAR_071513

ClinVar genetic disease variations for Alagille Syndrome 1:

6 (show top 50) (show all 396)
# 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.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121918350 GRCh38 Chromosome 20, 10658612: 10658612
7 JAG1 NM_000214.2(JAG1): c.551G> A (p.Arg184His) single nucleotide variant Pathogenic rs121918351 GRCh37 Chromosome 20, 10639259: 10639259
8 JAG1 NM_000214.2(JAG1): c.551G> A (p.Arg184His) single nucleotide variant Pathogenic rs121918351 GRCh38 Chromosome 20, 10658611: 10658611
9 JAG1 JAG1, 5-BP DEL deletion Pathogenic
10 JAG1 JAG1, 1-BP INS, 1618C insertion Pathogenic
11 JAG1 JAG1, 1-BP INS, 684G insertion Pathogenic
12 JAG1 NM_000214.2(JAG1): c.821G> A (p.Gly274Asp) single nucleotide variant Likely pathogenic rs28939668 GRCh37 Chromosome 20, 10633181: 10633181
13 JAG1 NM_000214.2(JAG1): c.821G> A (p.Gly274Asp) single nucleotide variant Likely pathogenic rs28939668 GRCh38 Chromosome 20, 10652533: 10652533
14 JAG1 NM_000214.2(JAG1): c.110T> C (p.Leu37Ser) single nucleotide variant Pathogenic rs121918352 GRCh37 Chromosome 20, 10653626: 10653626
15 JAG1 NM_000214.2(JAG1): c.110T> C (p.Leu37Ser) single nucleotide variant Pathogenic rs121918352 GRCh38 Chromosome 20, 10672978: 10672978
16 JAG1 JAG1, 2-BP DEL, 1485CT deletion Pathogenic
17 JAG1 JAG1, 1329, T-G, +2 single nucleotide variant Pathogenic
18 JAG1 NM_000214.2(JAG1): c.2214A> C (p.Thr738=) single nucleotide variant Benign rs1801140 GRCh37 Chromosome 20, 10625804: 10625804
19 JAG1 NM_000214.2(JAG1): c.2214A> C (p.Thr738=) single nucleotide variant Benign rs1801140 GRCh38 Chromosome 20, 10645156: 10645156
20 JAG1 NM_000214.2(JAG1): c.2382C> T (p.Ser794=) single nucleotide variant Benign rs56225585 GRCh37 Chromosome 20, 10624502: 10624502
21 JAG1 NM_000214.2(JAG1): c.2382C> T (p.Ser794=) single nucleotide variant Benign rs56225585 GRCh38 Chromosome 20, 10643854: 10643854
22 JAG1 NM_000214.2(JAG1): c.2612C> G (p.Pro871Arg) single nucleotide variant Benign/Likely benign rs35761929 GRCh37 Chromosome 20, 10622501: 10622501
23 JAG1 NM_000214.2(JAG1): c.2612C> G (p.Pro871Arg) single nucleotide variant Benign/Likely benign rs35761929 GRCh38 Chromosome 20, 10641853: 10641853
24 JAG1 NM_000214.2(JAG1): c.267G> A (p.Gly89=) single nucleotide variant Benign/Likely benign rs1051415 GRCh37 Chromosome 20, 10653469: 10653469
25 JAG1 NM_000214.2(JAG1): c.267G> A (p.Gly89=) single nucleotide variant Benign/Likely benign rs1051415 GRCh38 Chromosome 20, 10672821: 10672821
26 JAG1 NM_000214.2(JAG1): c.270G> T (p.Gly90=) single nucleotide variant Benign/Likely benign rs114048678 GRCh37 Chromosome 20, 10653466: 10653466
27 JAG1 NM_000214.2(JAG1): c.270G> T (p.Gly90=) single nucleotide variant Benign/Likely benign rs114048678 GRCh38 Chromosome 20, 10672818: 10672818
28 JAG1 NM_000214.2(JAG1): c.3528C> T (p.Tyr1176=) single nucleotide variant Benign rs1051421 GRCh37 Chromosome 20, 10620275: 10620275
29 JAG1 NM_000214.2(JAG1): c.3528C> T (p.Tyr1176=) single nucleotide variant Benign rs1051421 GRCh38 Chromosome 20, 10639627: 10639627
30 JAG1 NM_000214.2(JAG1): c.436G> A (p.Val146Ile) single nucleotide variant Benign/Likely benign rs6040067 GRCh37 Chromosome 20, 10644614: 10644614
31 JAG1 NM_000214.2(JAG1): c.436G> A (p.Val146Ile) single nucleotide variant Benign/Likely benign rs6040067 GRCh38 Chromosome 20, 10663966: 10663966
32 JAG1 NM_000214.2(JAG1): c.588C> T (p.Cys196=) single nucleotide variant Benign rs1801138 GRCh37 Chromosome 20, 10639222: 10639222
33 JAG1 NM_000214.2(JAG1): c.588C> T (p.Cys196=) single nucleotide variant Benign rs1801138 GRCh38 Chromosome 20, 10658574: 10658574
34 JAG1 NM_000214.2(JAG1): c.744A> G (p.Pro248=) single nucleotide variant Benign/Likely benign rs10485741 GRCh37 Chromosome 20, 10637057: 10637057
35 JAG1 NM_000214.2(JAG1): c.744A> G (p.Pro248=) single nucleotide variant Benign/Likely benign rs10485741 GRCh38 Chromosome 20, 10656409: 10656409
36 JAG1 NM_000214.2(JAG1): c.924C> T (p.Asn308=) single nucleotide variant Benign/Likely benign rs45575136 GRCh37 Chromosome 20, 10632861: 10632861
37 JAG1 NM_000214.2(JAG1): c.924C> T (p.Asn308=) single nucleotide variant Benign/Likely benign rs45575136 GRCh38 Chromosome 20, 10652213: 10652213
38 JAG1 NM_000214.2(JAG1): c.3417T> C (p.Tyr1139=) single nucleotide variant Benign rs1051419 GRCh37 Chromosome 20, 10620386: 10620386
39 JAG1 NM_000214.2(JAG1): c.3417T> C (p.Tyr1139=) single nucleotide variant Benign rs1051419 GRCh38 Chromosome 20, 10639738: 10639738
40 JAG1 NM_000214.2(JAG1): c.1511A> G (p.Asn504Ser) single nucleotide variant Uncertain significance rs527236046 GRCh37 Chromosome 20, 10629255: 10629255
41 JAG1 NM_000214.2(JAG1): c.1511A> G (p.Asn504Ser) single nucleotide variant Uncertain significance rs527236046 GRCh38 Chromosome 20, 10648607: 10648607
42 JAG1 NM_000214.2(JAG1): c.765C> T (p.Tyr255=) single nucleotide variant Benign rs1131695 GRCh37 Chromosome 20, 10633237: 10633237
43 JAG1 NM_000214.2(JAG1): c.765C> T (p.Tyr255=) single nucleotide variant Benign rs1131695 GRCh38 Chromosome 20, 10652589: 10652589
44 JAG1 NM_000214.2(JAG1): c.2122_2125delCAGT (p.Gln708Valfs) deletion Pathogenic rs727504412 GRCh38 Chromosome 20, 10645245: 10645248
45 JAG1 NM_000214.2(JAG1): c.2122_2125delCAGT (p.Gln708Valfs) deletion Pathogenic rs727504412 GRCh37 Chromosome 20, 10625893: 10625896
46 JAG1 NM_000214.2(JAG1): c.2559C> T (p.Ala853=) single nucleotide variant Benign rs201234393 GRCh37 Chromosome 20, 10623149: 10623149
47 JAG1 NM_000214.2(JAG1): c.2559C> T (p.Ala853=) single nucleotide variant Benign rs201234393 GRCh38 Chromosome 20, 10642501: 10642501
48 JAG1 NM_000214.2(JAG1): c.1326G> A (p.Trp442Ter) single nucleotide variant Pathogenic rs794726974 GRCh37 Chromosome 20, 10630192: 10630192
49 JAG1 NM_000214.2(JAG1): c.1326G> A (p.Trp442Ter) single nucleotide variant Pathogenic rs794726974 GRCh38 Chromosome 20, 10649544: 10649544
50 JAG1 NM_000214.3(JAG1): c.601C> T (p.Arg201Cys) single nucleotide variant Uncertain significance rs794727618 GRCh37 Chromosome 20, 10639209: 10639209

Copy number variations for Alagille Syndrome 1 from CNVD:

7
# 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 1

Search GEO for disease gene expression data for Alagille Syndrome 1.

Pathways for Alagille Syndrome 1

Pathways related to Alagille Syndrome 1 according to KEGG:

37
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

Pathways related to Alagille Syndrome 1 according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 HEY2 JAG1 NOTCH1 NOTCH2 RBPJ
2 12.63 HEY2 JAG1 NOTCH1 NOTCH2
3
Show member pathways
12.61 HEY2 JAG1 NOTCH1 NOTCH2 RBPJ
4
Show member pathways
12.57 ABCB11 JAG1 NOTCH1 NOTCH2
5
Show member pathways
12.56 HEY2 JAG1 NOTCH1 NOTCH2
6
Show member pathways
12.36 JAG1 NOTCH1 NOTCH2 RBPJ
7
Show member pathways
12.09 HEY2 JAG1 NOTCH1 NOTCH2 RBPJ
8 11.97 JAG1 NOTCH1 NOTCH2 RBPJ
9 11.9 NOTCH1 NOTCH2 RBPJ
10
Show member pathways
11.9 HEY2 JAG1 NOTCH1 RBPJ
11
Show member pathways
11.82 NOTCH1 NOTCH2 RBPJ
12
Show member pathways
11.71 JAG1 NOTCH1 NOTCH2 RBPJ
13 11.64 JAG1 NOTCH1 NOTCH2
14 11.31 HEY2 NOTCH1 RBPJ
15 11.29 HEY2 NOTCH1
16 11.28 NOTCH1 RBPJ
17 11.27 JAG1 NOTCH1 RBPJ
18 11.27 HEY2 NOTCH1 NOTCH2 RBPJ
19 11.16 ABCB11 ABCB4
20 11.04 NOTCH1 NOTCH2 RBPJ
21 10.86 ABCB11 ABCB4
22 10.83 JAG1 NOTCH1
23 10.79 JAG1 NOTCH1
24 10.58 MESP2 NOTCH1
25 10.36 JAG1 NOTCH1 NOTCH2 RBPJ

GO Terms for Alagille Syndrome 1

Cellular components related to Alagille Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.65 ABCB11 ABCB4 ATP8B1 JAG1 NOTCH2
2 apical plasma membrane GO:0016324 9.46 ABCB4 ATP8B1 JAG1 NOTCH1
3 intercellular canaliculus GO:0046581 8.96 ABCB11 ABCB4
4 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 NOTCH1 RBPJ

Biological processes related to Alagille Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.9 HEY2 NOTCH1 NOTCH2
2 heart development GO:0007507 9.9 HEY2 NOTCH1 RBPJ
3 angiogenesis GO:0001525 9.9 JAG1 NOTCH1 RBPJ
4 regulation of gene expression GO:0010468 9.9 HEY2 NOTCH1 RBPJ
5 regulation of cell proliferation GO:0042127 9.88 JAG1 NOTCH1 RBPJ
6 transcription initiation from RNA polymerase II promoter GO:0006367 9.87 NOTCH1 NOTCH2 RBPJ
7 keratinocyte differentiation GO:0030216 9.82 JAG1 NOTCH1 RBPJ
8 hemopoiesis GO:0030097 9.82 JAG1 NOTCH2 RBPJ
9 negative regulation of cell differentiation GO:0045596 9.8 JAG1 NOTCH1 RBPJ
10 cell fate commitment GO:0045165 9.79 HEY2 NOTCH1 RBPJ
11 outflow tract morphogenesis GO:0003151 9.77 HEY2 NOTCH1 RBPJ
12 positive regulation of Notch signaling pathway GO:0045747 9.74 JAG1 NOTCH1 RBPJ
13 negative regulation of cold-induced thermogenesis GO:0120163 9.73 NOTCH1 RBPJ
14 regulation of neurogenesis GO:0050767 9.73 HEY2 NOTCH1
15 epithelial to mesenchymal transition GO:0001837 9.72 NOTCH1 RBPJ
16 positive regulation of BMP signaling pathway GO:0030513 9.72 NOTCH1 RBPJ
17 blood vessel remodeling GO:0001974 9.72 JAG1 RBPJ
18 bile acid and bile salt transport GO:0015721 9.71 ABCB11 ATP8B1
19 phospholipid translocation GO:0045332 9.71 ABCB4 ATP8B1
20 drug transmembrane transport GO:0006855 9.7 ABCB4 ATP8B1
21 aortic valve morphogenesis GO:0003180 9.7 JAG1 NOTCH1
22 negative regulation of ossification GO:0030279 9.69 NOTCH1 RBPJ
23 labyrinthine layer blood vessel development GO:0060716 9.69 HEY2 RBPJ
24 positive regulation of Ras protein signal transduction GO:0046579 9.69 NOTCH1 NOTCH2
25 cell fate determination GO:0001709 9.68 JAG1 NOTCH2
26 positive regulation of transcription of Notch receptor target GO:0007221 9.68 NOTCH1 RBPJ
27 cardiac right ventricle morphogenesis GO:0003215 9.68 HEY2 JAG1
28 negative regulation of stem cell differentiation GO:2000737 9.68 JAG1 NOTCH1
29 atrial septum morphogenesis GO:0060413 9.67 HEY2 NOTCH2
30 cardiac epithelial to mesenchymal transition GO:0060317 9.67 HEY2 NOTCH1
31 inflammatory response to antigenic stimulus GO:0002437 9.67 NOTCH1 RBPJ
32 ventricular septum morphogenesis GO:0060412 9.67 HEY2 NOTCH1 RBPJ
33 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.66 NOTCH1 RBPJ
34 response to muramyl dipeptide GO:0032495 9.66 JAG1 NOTCH1
35 cardiac ventricle morphogenesis GO:0003208 9.65 HEY2 NOTCH1
36 dorsal aorta morphogenesis GO:0035912 9.65 HEY2 RBPJ
37 positive regulation of cardiac muscle cell proliferation GO:0060045 9.65 HEY2 NOTCH1 RBPJ
38 interleukin-4 secretion GO:0072602 9.64 NOTCH1 RBPJ
39 mesenchymal cell development GO:0014031 9.63 HEY2 NOTCH1
40 pulmonary artery morphogenesis GO:0061156 9.63 HEY2 JAG1
41 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.61 NOTCH1 RBPJ
42 regulation of inner ear auditory receptor cell differentiation GO:0045607 9.61 HEY2 NOTCH1
43 arterial endothelial cell differentiation GO:0060842 9.59 HEY2 NOTCH1
44 endocardium development GO:0003157 9.58 NOTCH1 RBPJ
45 regulation of developmental process GO:0050793 9.58 NOTCH1 NOTCH2
46 neuronal stem cell population maintenance GO:0097150 9.58 JAG1 NOTCH1 SRRT
47 auditory receptor cell fate commitment GO:0009912 9.56 NOTCH1 RBPJ
48 cardiac vascular smooth muscle cell development GO:0060948 9.55 HEY2 NOTCH1
49 distal tubule development GO:0072017 9.54 JAG1 NOTCH1
50 ventricular trabecula myocardium morphogenesis GO:0003222 9.54 HEY2 NOTCH1 RBPJ

Molecular functions related to Alagille Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Notch binding GO:0005112 8.62 JAG1 NOTCH1

Sources for Alagille Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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
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44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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