ALGS1
MCID: ALG028
MIFTS: 73

Alagille Syndrome 1 (ALGS1)

Categories: Cardiovascular 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 56 73 29 6 71
Alagille Syndrome 56 12 74 24 52 25 58 73 36 13 54 43 15
Arteriohepatic Dysplasia 56 12 24 52 25 58 29 6
Alagille-Watson Syndrome 56 12 74 52 25 58 73
Cholestasis with Peripheral Pulmonary Stenosis 56 52 25 73
Hepatic Ductular Hypoplasia 52 25 71
Hepatofacioneurocardiovertebral Syndrome 52 25
Paucity of Interlobular Bile Ducts 52 25
Syndromic Bile Duct Paucity 24 58
Cardiovertebral Syndrome 52 25
Watson-Miller Syndrome 52 25
Algs1 56 73
Algs 56 73
Aws 56 73
Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation 58
Alagille-Watson Syndrome Due to a Jag1 Point Mutation 58
Arteriohepatic Dysplasia Due to a Jag1 Point Mutation 58
Syndromic Bile Duct Paucity Due to Monosomy 20p12 58
Alagille-Watson Syndrome Due to Monosomy 20p12 58
Arteriohepatic Dysplasia Due to Monosomy 20p12 58
Alagille Syndrome Due to a Jag1 Point Mutation 58
Alagille Syndrome Due to 20p12 Microdeletion 58
Hepatic Ductular Hypoplasia, Syndromatic 56
Alagille Syndrome Due to Monosomy 20p12 58
Alagille Syndrome Due to Del(20)(p12) 58
Alagille-Watson Syndrome; Aws 56
Arteriohepatic Dysplasia; Ahd 56
Watson Alagille Syndrome 52
Alagille Syndrome; Algs 56
Alagille's Syndrome 25
Syndrome, Alagille 39
Ahd 56

Characteristics:

Orphanet epidemiological data:

58
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:

56
Miscellaneous:
incomplete penetrance
onset in infancy
variable expression
prevalence of 1 in 70,000

Inheritance:
autosomal dominant


HPO:

31
alagille syndrome 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset incomplete penetrance


GeneReviews:

24
Penetrance Algs associated with pathogenic variants in either of the known causative genes (jag1 and notch2) demonstrates highly variable expressivity with clinical features ranging from subclinical to severe....

Classifications:

Orphanet: 58  
Rare eye diseases
Rare cardiac malformations
Rare hepatic diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Alagille Syndrome 1

Genetics Home Reference : 25 Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). As a result, bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream. Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itchy skin, and deposits of cholesterol in the skin (xanthomas). Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Pulmonic stenosis may occur along with a hole between the two lower chambers of the heart (ventricular septal defect) and other heart abnormalities. This combination of heart defects is called tetralogy of Fallot. People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin. The disorder may also affect the blood vessels within the brain and spinal cord (central nervous system) and the kidneys. Affected individuals may have an unusual butterfly shape of the bones of the spinal column (vertebrae) that can be seen in an x-ray. Problems associated with Alagille syndrome generally become evident in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family. Symptoms range from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation. Some people with Alagille syndrome may have isolated signs of the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. These individuals do not have liver disease or other features typical of the disorder.

MalaCards based summary : Alagille Syndrome 1, also known as alagille syndrome, is related to cholestasis and biliary atresia. An important gene associated with Alagille Syndrome 1 is JAG1 (Jagged Canonical Notch Ligand 1), and among its related pathways/superpathways are Notch signaling pathway and Signaling by GPCR. The drugs Temocillin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include Head Mesenchyme and Liver, and related phenotypes are hepatomegaly and failure to thrive

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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Alagille syndrome is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and tetralogy of Fallot. Affected individuals show typical facies and abnormal butterfly vertebrae as well. Mutations in the Notch pathway cause Alagille syndrome.

UniProtKB/Swiss-Prot : 73 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 : 74 Alagille syndrome is a genetic disorder that affects primarily the liver and the heart. Problems... 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 368)
# Related Disease Score Top Affiliating Genes
1 cholestasis 31.6 NOTCH2 JAG1 ATP8B1 ABCB4 ABCB11
2 biliary atresia 31.0 NOTCH2 JAG1 ATP8B1 ABCB4 ABCB11
3 familial intrahepatic cholestasis 31.0 ATP8B1 ABCB4 ABCB11
4 progressive familial intrahepatic cholestasis 30.8 ATP8B1 ABCB4 ABCB11
5 heart septal defect 30.8 NOTCH1 JAG1 HEY2
6 atp8b1 deficiency 30.8 ATP8B1 ABCB11
7 bilirubin metabolic disorder 30.7 ATP8B1 ABCB4 ABCB11
8 patent ductus arteriosus 1 30.7 NOTCH2 NOTCH1 JAG1
9 tetralogy of fallot 30.5 RBPJ NOTCH2 NOTCH1 JAG1 HEY2 HEY1
10 nodular regenerative hyperplasia 30.4 NOTCH2 NOTCH1 JAG1
11 hypoplastic left heart syndrome 30.4 NOTCH1 JAG1 HEY2
12 cholestasis, intrahepatic, of pregnancy, 1 30.4 JAG1 ATP8B1 ABCB4 ABCB11
13 atrial heart septal defect 30.3 NOTCH1 JAG1 HEY2
14 tongue carcinoma 30.3 NOTCH3 NOTCH1 JAG2 JAG1
15 aortic valve disease 1 28.1 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 MESP2
16 allan-herndon-dudley syndrome 12.4
17 lambert syndrome 12.0
18 alveolar echinococcosis 11.3
19 glycogen storage disease ixc 11.2
20 biliary atresia, extrahepatic 11.2
21 bile acid synthesis defect, congenital, 2 11.2
22 bile acid synthesis defect, congenital, 1 11.2
23 hardikar syndrome 11.2
24 aplastic anemia 10.7
25 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.7
26 heart, malformation of 10.5 NOTCH1 JAG1
27 trachea adenoid cystic carcinoma 10.5 NOTCH3 JAG1
28 lacrimal gland adenoid cystic carcinoma 10.4 NOTCH2 NOTCH1
29 oliver syndrome 10.4 RBPJ NOTCH1 DLL4
30 dowling-degos disease 10.4 NOTCH2 NOTCH1 JAG1
31 hypercholesterolemia, familial, 1 10.4
32 lung adenoma 10.4 NOTCH3 NOTCH2 NOTCH1
33 pericholangitis 10.4 ABCB4 ABCB11
34 portal hypertension 10.3
35 liver disease 10.3
36 autosomal dominant non-syndromic intellectual disability 3 10.3 ABCB4 ABCB11
37 cholestasis, progressive familial intrahepatic, 5 10.3 ATP8B1 ABCB4 ABCB11
38 cholestasis, progressive familial intrahepatic, 4 10.3 ATP8B1 ABCB4 ABCB11
39 cholestasis, benign recurrent intrahepatic, 2 10.3 ATP8B1 ABCB4 ABCB11
40 cholestasis, progressive familial intrahepatic, 2 10.3 ATP8B1 ABCB4 ABCB11
41 neonatal jaundice 10.3
42 peripheral pulmonary stenosis 10.3
43 prune belly syndrome 10.3
44 polykaryocytosis inducer 10.3
45 arthrogryposis, renal dysfunction, and cholestasis 1 10.3
46 cystic fibrosis 10.3
47 alkuraya-kucinskas syndrome 10.3
48 distal arthrogryposis 10.3
49 transient neonatal diabetes mellitus 10.3
50 hydronephrosis 10.3

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



Diseases related to Alagille Syndrome 1

Symptoms & Phenotypes for Alagille Syndrome 1

Human phenotypes related to Alagille Syndrome 1:

58 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 corneal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001131
4 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
5 cholestasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001396
6 reduced number of intrahepatic bile ducts 58 31 hallmark (90%) Very frequent (99-80%) HP:0006571
7 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
8 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
9 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
10 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
11 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
12 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
13 spina bifida occulta 58 31 frequent (33%) Frequent (79-30%) HP:0003298
14 vertebral segmentation defect 58 31 frequent (33%) Frequent (79-30%) HP:0003422
15 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
16 long nose 58 31 frequent (33%) Frequent (79-30%) HP:0003189
17 butterfly vertebral arch 58 31 frequent (33%) Frequent (79-30%) HP:0004617
18 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
19 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
20 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
21 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
22 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
23 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
24 flat face 58 31 occasional (7.5%) Occasional (29-5%) HP:0012368
25 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
26 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
27 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
28 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
29 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
30 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
31 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
32 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
33 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
34 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
35 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
36 abnormal pupil morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000615
37 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
38 peripheral pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004969
39 short distal phalanx of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009882
40 abnormality of the ureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000069
41 keratoconus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000563
42 hypoplasia of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0003022
43 vesicoureteral reflux 31 very rare (1%) HP:0000076
44 hepatic failure 31 very rare (1%) HP:0001399
45 renal tubular acidosis 31 very rare (1%) HP:0001947
46 renal dysplasia 31 very rare (1%) HP:0000110
47 renal artery stenosis 31 very rare (1%) HP:0001920
48 duplicated collecting system 31 very rare (1%) HP:0000081
49 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
50 focal segmental glomerulosclerosis 31 very rare (1%) HP:0000097

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
long nose with bulbous tip

Growth Other:
failure to thrive

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

Cardiovascular Vascular:
coarctation of aorta
cerebrovascular accidents
moyamoya syndrome

Skeletal Spine:
hemivertebrae
butterfly vertebral arch
vertebral anomalies

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

Head And Neck Eyes:
hypertelorism
strabismus
myopia
posterior embryotoxon
microcornea
more
Laboratory Abnormalities:
hypertriglyceridemia
hypercholesterolemia
increased conjugated bilirubin
elevated transaminases

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

Genitourinary Kidneys:
vesicoureteral reflux
renal tubular acidosis
renal dysplasia
renal involvement (in 39%)
small kidneys
more
Head And Neck Face:
broad forehead
triangular face
prominent zygomatic arch

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

MGI Mouse Phenotypes related to Alagille Syndrome 1:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.49 ABCB11 ABCB4 ATP8B1 DLL1 DLL3 DLL4
2 cardiovascular system MP:0005385 10.44 ABCB4 APOA1 DLL1 DLL4 HEY1 HEY2
3 embryo MP:0005380 10.43 DLL1 DLL3 DLL4 HES7 HEY1 HEY2
4 cellular MP:0005384 10.4 ABCB4 APOA1 DLL1 DLL4 HEY1 JAG1
5 homeostasis/metabolism MP:0005376 10.39 ABCB11 ABCB4 APOA1 ATP8B1 DLL1 DLL4
6 mortality/aging MP:0010768 10.39 ABCB11 ATP8B1 DLL1 DLL3 DLL4 HES7
7 endocrine/exocrine gland MP:0005379 10.36 ABCB4 APOA1 ATP8B1 DLL1 DLL4 JAG1
8 nervous system MP:0003631 10.18 ATP8B1 DLL1 DLL3 HEY1 HEY2 JAG1
9 digestive/alimentary MP:0005381 10.17 ABCB4 DLL1 JAG1 JAG2 NOTCH1 NOTCH2
10 muscle MP:0005369 10.14 DLL1 DLL3 DLL4 HEY1 HEY2 JAG1
11 craniofacial MP:0005382 10.12 DLL3 HEY1 HEY2 JAG1 JAG2 NOTCH1
12 liver/biliary system MP:0005370 10.11 ABCB11 ABCB4 APOA1 ATP8B1 HEY2 JAG1
13 integument MP:0010771 10.1 APOA1 JAG1 JAG2 MESP2 NOTCH1 NOTCH2
14 hearing/vestibular/ear MP:0005377 10.07 ATP8B1 DLL1 DLL3 JAG1 JAG2 NOTCH1
15 limbs/digits/tail MP:0005371 10.02 ATP8B1 DLL1 DLL3 HES7 JAG2 MESP2
16 normal MP:0002873 10.02 DLL1 DLL4 HEY1 JAG1 MESP2 NOTCH1
17 renal/urinary system MP:0005367 9.8 ATP8B1 DLL1 JAG1 NOTCH1 NOTCH2 NOTCH3
18 skeleton MP:0005390 9.73 ABCB4 ATP8B1 DLL1 DLL3 HES7 JAG1
19 respiratory system MP:0005388 9.7 ABCB11 HEY2 JAG2 NOTCH1 NOTCH2 NOTCH3
20 vision/eye MP:0005391 9.32 ABCB11 ATP8B1 DLL3 DLL4 JAG1 NOTCH1

Drugs & Therapeutics for Alagille Syndrome 1

Drugs for Alagille Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Temocillin Approved, Investigational Phase 4 66148-78-5
2 Anti-Bacterial Agents Phase 4
3 Anti-Infective Agents Phase 4
4 Antibiotics, Antitubercular Phase 4
5 Bile Acids and Salts Phase 2
6 Pharmaceutical Solutions Phase 2
7 Hypolipidemic Agents Phase 1
8 Lipid Regulating Agents Phase 1
9 Anticholesteremic Agents Phase 1
10 Cholestyramine Resin Phase 1
11 Antimetabolites Phase 1
12 Cola Phase 1
13
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
14 Hormones
15 Anti-Arrhythmia Agents
16 Tocolytic Agents
17 Anticonvulsants
18 Anesthetics
19 Calcium, Dietary
20 Analgesics
21 calcium channel blockers
22 Liver Extracts
23 Alpha 1-Antitrypsin
24 Protein C Inhibitor
25
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Temocillin Pharmacokinetics in Paediatrics Unknown status NCT02260102 Phase 4 Temocillin
2 The Evaluation of the Intestinal Bile Acid Transport (IBAT) Inhibitor LUM001 in the Reduction of Pruritus in Alagille Syndrome, a Cholestatic Liver Disease Completed NCT02057692 Phase 2 LUM001;Placebo
3 Long-Term, Open-Label Study With a Double-Blind, Placebo-Controlled, Randomized Drug Withdrawal Period of LUM001, an Apical Sodium-Dependent Bile Acid Transporter Inhibitor (ASBTi), in Patients With Alagille Syndrome Completed NCT02160782 Phase 2 LUM001;Placebo
4 A Multicentre Extension Study to Evaluate the Long-Term Safety and Durability of the Therapeutic Effect of LUM001, an Apical Sodium-Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Pediatric Subjects With Alagille Syndrome Completed NCT02047318 Phase 2 LUM001
5 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of LUM001, an Apical Sodium-dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Paediatric Patients With Alagille Syndrome Completed NCT01903460 Phase 2 LUM001;Placebo
6 A Multicenter Extension Study to Evaluate the Long-Term Safety and Durability of the Therapeutic Effect of LUM001, an Apical Sodium-Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Pediatric Subjects With Alagille Syndrome Completed NCT02117713 Phase 2 LUM001
7 MRX-800: A Long-Term Safety Study of Maralixibat, an Apical Sodium Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Subjects Who Previously Participated in a Maralixibat Study Enrolling by invitation NCT04168385 Phase 2 Maralixibat
8 A Phase I, Double-Blind Single and Multiple Ascending Dose Study to Assess Safety and Pharmacokinetics of A4250 as Monotherapy, and in Combination With Colonic Release Cholestyramine (A3384) or Commercially Available Cholestyramine (Questran™) in Healthy Subjects Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
9 An Open Label, Single-Dose, Single Period Study Designed to Assess the Mass Balance Recovery, Metabolite Profile and Metabolite Identification of [14C]-A4250 in Healthy Male Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
10 Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Completed NCT00001642
11 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 magnesium gluconate;magnesium sulfate
12 Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Completed NCT01515631
13 Validation of the ItchRO Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
14 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
15 Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC) Suspended NCT00571272
16 Childhood Liver Disease Research Network (ChiLDReN): FibroScan™ in Pediatric Cholestatic Liver Disease (FORCE) Study Protocol Suspended NCT02922751
17 Longitudinal Study of Mitochondrial Hepatopathies Suspended NCT01148550

Search 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:

40
Liver, Skin, Heart, Kidney, Eye, Brain, Bone
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 791)
# Title Authors PMID Year
1
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome. 61 6 56 54
12239725 2002
2
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 6 56 61 54
9207788 1997
3
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 56 24 54 61
19948535 2010
4
Consequences of JAG1 mutations. 54 61 56 24
14684686 2003
5
Craniosynostosis in Alagille syndrome. 24 61 56 54
12244552 2002
6
Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. 61 56 6
12244555 2002
7
Parental mosaicism of JAG1 mutations in families with Alagille syndrome. 56 61 24 54
11313761 2001
8
Jagged1 mutations in patients ascertained with isolated congenital heart defects. 24 6 61 54
10213047 1999
9
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. 61 6 24 54
9585603 1998
10
Mutations in the human Jagged1 gene are responsible for Alagille syndrome. 6 61 56
9207787 1997
11
Moyamoya vascular pattern in Alagille syndrome. 56 24 61
22759690 2012
12
Alagille syndrome: pathogenesis, diagnosis and management. 24 56 61
21934706 2012
13
Renal anomalies in Alagille syndrome: a disease-defining feature. 56 24 61
22105858 2012
14
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. 56 61 24
14993126 2004
15
Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. 61 24 56
11511567 2001
16
Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy. 61 24 56
9925853 1999
17
Ocular abnormalities in Alagille syndrome. 56 24 61
9951486 1999
18
Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1. 61 54 56
18266235 2008
19
Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. 56 54 61
17720887 2007
20
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 6 61 54
16773578 2006
21
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome. 61 54 56
15772854 2005
22
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. 6 61 54
11157803 2001
23
De novo formation of the biliary system by TGFβ-mediated hepatocyte transdifferentiation. 61 56
29720662 2018
24
Clinical utility gene card for: Alagille Syndrome (ALGS). 6 61
23881058 2014
25
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 24 61 54
20437614 2010
26
Re: Article by Kamath et al.-"Facial features in Alagille Syndrome". 56 61
14699626 2004
27
Bleeding tendency in children with Alagille syndrome. 61 56
12509572 2003
28
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. 54 24 61
12427653 2002
29
Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion. 54 24 61
12244554 2002
30
Facial features in Alagille syndrome: specific or cholestasis facies? 61 56
12244550 2002
31
Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. 61 56
12244551 2002
32
Jagged1 mutations in alagille syndrome. 54 61 24
11139239 2001
33
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 24 54 61
11152664 2001
34
Severe hypodontia and oral xanthomas in Alagille syndrome. 56 61
10925392 2000
35
Alagille Syndrome 61 6
20301450 2000
36
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 54 61 24
10220506 1999
37
Mutational analysis of the Jagged 1 gene in Alagille syndrome families. 56 61
9700188 1998
38
Alagille syndrome. 56 61
9039994 1997
39
Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20). 56 61
8826431 1996
40
Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. 61 56
7485156 1995
41
Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus. 61 56
7558028 1995
42
Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family. 61 56
7789956 1995
43
Alagille syndrome: family studies. 61 56
7643353 1995
44
Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes. 56 61
7873876 1994
45
Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies. 61 56
8037203 1994
46
Segregation analysis of Alagille syndrome. 61 56
8071971 1994
47
Thyroid cancer in a case with the Alagille syndrome. 61 56
8149647 1994
48
Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients. 61 56
7834278 1994
49
Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. 56 61
8501153 1993
50
Screening of microdeletions of chromosome 20 in patients with Alagille syndrome. 56 61
1583641 1992

Variations for Alagille Syndrome 1

ClinVar genetic disease variations for Alagille Syndrome 1:

6 (show top 50) (show all 248) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JAG1 NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter)SNV Pathogenic 406872 rs372984801 20:10621803-10621803 20:10641155-10641155
2 JAG1 NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter)SNV Pathogenic 406874 rs1060501352 20:10622180-10622180 20:10641532-10641532
3 JAG1 NM_000214.3(JAG1):c.1353dup (p.Asn452Ter)duplication Pathogenic 406868 rs1060501347 20:10629750-10629751 20:10649102-10649103
4 JAG1 NM_000214.3(JAG1):c.2840del (p.Lys947fs)deletion Pathogenic 406870 rs1060501349 20:10622184-10622184 20:10641536-10641536
5 JAG1 NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter)SNV Pathogenic 406871 rs1060501350 20:10622336-10622336 20:10641688-10641688
6 JAG1 NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter)SNV Pathogenic 406873 rs1060501351 20:10639267-10639267 20:10658619-10658619
7 JAG1 NM_000214.3(JAG1):c.2966dup (p.Leu989fs)duplication Pathogenic 406869 rs1555827729 20:10621842-10621843 20:10641194-10641195
8 JAG1 NM_000214.3(JAG1):c.1713dup (p.Cys572fs)duplication Pathogenic 468655 rs1555828546 20:10628614-10628615 20:10647966-10647967
9 JAG1 NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs)deletion Pathogenic 497597 rs1555827653 20:10621463-10621466 20:10640815-10640818
10 JAG1 NM_000214.3(JAG1):c.2113+5G>CSNV Pathogenic 522675 rs886044704 20:10625999-10625999 20:10645351-10645351
11 JAG1 NM_000214.3(JAG1):c.3166_3167AG[1] (p.Arg1056fs)short repeat Pathogenic 523627 rs1555827650 20:10621461-10621462 20:10640813-10640814
12 JAG1 NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter)SNV Pathogenic 536533 rs1437309558 20:10623235-10623235 20:10642587-10642587
13 JAG1 NM_000214.3(JAG1):c.932del (p.Thr311fs)deletion Pathogenic 536526 rs1555829037 20:10632853-10632853 20:10652205-10652205
14 JAG1 NM_000214.3(JAG1):c.350del (p.Arg117fs)deletion Pathogenic 536525 rs1555830929 20:10653386-10653386 20:10672738-10672738
15 JAG1 NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs)indel Pathogenic 536527 rs1555827769 20:10622236-10622250 20:10641588-10641602
16 JAG1 NM_000214.3(JAG1):c.2173dup (p.Asp725fs)duplication Pathogenic 565584 rs1568794128 20:10625844-10625845 20:10645196-10645197
17 JAG1 NC_000020.11:g.(?_10639478)_(10639975_?)deldeletion Pathogenic 583830 20:10620126-10620623 20:10639478-10639975
18 JAG1 NM_000214.3(JAG1):c.2113+1G>TSNV Pathogenic 584458 rs1294950721 20:10626003-10626003 20:10645355-10645355
19 JAG1 NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs)indel Pathogenic 590995 rs1568796241 20:10629318-10629320 20:10648670-10648672
20 JAG1 , MKKS , SLX4IP , SNAP25 GRCh37/hg19 20p12.2(chr20:10124855-11479105)copy number loss Pathogenic 625616 20:10124855-11479105
21 JAG1 NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter)SNV Pathogenic 664927 20:10629729-10629729 20:10649081-10649081
22 JAG1 NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs)duplication Pathogenic 645280 20:10621796-10621797 20:10641148-10641149
23 JAG1 NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter)SNV Pathogenic 655678 20:10623176-10623176 20:10642528-10642528
24 JAG1 NM_000214.3(JAG1):c.2503_2504TG[2] (p.Val836fs)short repeat Pathogenic 652176 20:10623200-10623201 20:10642552-10642553
25 JAG1 NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter)SNV Pathogenic 665385 20:10626641-10626641 20:10645993-10645993
26 JAG1 NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs)deletion Pathogenic 648866 20:10627615-10627616 20:10646967-10646968
27 JAG1 NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter)SNV Pathogenic 639743 20:10632292-10632292 20:10651644-10651644
28 JAG1 NM_000214.3(JAG1):c.238A>T (p.Lys80Ter)SNV Pathogenic 661831 20:10653498-10653498 20:10672850-10672850
29 JAG1 NM_000214.3(JAG1):c.142G>T (p.Glu48Ter)SNV Pathogenic 640223 20:10653594-10653594 20:10672946-10672946
30 JAG1 NC_000020.11:g.(?_10253609)_(10673550_?)deldeletion Pathogenic 652394 20:10234257-10654198 20:10253609-10673550
31 JAG1 NM_000214.3(JAG1):c.886+1G>ASNV Pathogenic 803602 20:10633115-10633115 20:10652467-10652467
32 JAG1 NM_000214.3(JAG1):c.233G>C (p.Cys78Ser)SNV Pathogenic 816704 20:10653503-10653503 20:10672855-10672855
33 JAG1 NM_000214.3(JAG1):c.232T>G (p.Cys78Gly)SNV Pathogenic 816703 20:10653504-10653504 20:10672856-10672856
34 JAG1 NM_000214.3(JAG1):c.232T>C (p.Cys78Arg)SNV Pathogenic 816702 20:10653504-10653504 20:10672856-10672856
35 JAG1 NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer)deletion Pathogenic 830218 20:10629726-10629727 20:10649078-10649079
36 JAG1 NM_000214.3(JAG1):c.2690dup (p.Cys897fs)duplication Pathogenic 860325 20:10622333-10622334 20:10641685-10641686
37 JAG1 NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs)duplication Pathogenic 849005 20:10625844-10625845 20:10645196-10645197
38 JAG1 NM_000214.3(JAG1):c.1720G>T (p.Val574Leu)SNV Pathogenic 834783 20:10628608-10628608 20:10647960-10647960
39 JAG1 NM_000214.3(JAG1):c.1601del (p.Cys534fs)deletion Pathogenic 855856 20:10628727-10628727 20:10648079-10648079
40 JAG1 NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter)SNV Pathogenic 852943 20:10630897-10630897 20:10650249-10650249
41 JAG1 NM_000214.3(JAG1):c.532del (p.His178fs)deletion Pathogenic 845971 20:10639278-10639278 20:10658630-10658630
42 JAG1 NM_000214.3(JAG1):c.1656del (p.Glu553fs)deletion Pathogenic 7618 rs1568795820 20:10628672-10628672 20:10648024-10648024
43 JAG1 NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer)deletion Pathogenic 7615 rs1568792286 20:10622473-10622474 20:10641825-10641826
44 JAG1 NM_000214.3(JAG1):c.2916+1G>CSNV Pathogenic 7616 rs1568791920 20:10622107-10622107 20:10641459-10641459
45 JAG1 NM_000214.3(JAG1):c.691_692AG[1] (p.Arg231fs)short repeat Pathogenic 7617 rs876660978 20:10639116-10639117 20:10658468-10658469
46 JAG1 NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)SNV Pathogenic 7619 rs121918350 20:10639260-10639260 20:10658612-10658612
47 JAG1 NM_000214.3(JAG1):c.551G>A (p.Arg184His)SNV Pathogenic 7620 rs121918351 20:10639259-10639259 20:10658611-10658611
48 JAG1 NM_000214.3(JAG1):c.2091_2095GAAAG[1] (p.Gly699fs)short repeat Pathogenic 7621 rs886039393 20:10626017-10626021 20:10645369-10645373
49 JAG1 JAG1, 1-BP INS, 684Ginsertion Pathogenic 7623
50 JAG1 NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer)deletion Pathogenic 843337 20:10626038-10626039 20:10645390-10645391

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

73 (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 rs128249865
34 JAG1 p.Ala155Pro VAR_026312
35 JAG1 p.Pro163Arg VAR_026313 rs155582967
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

Copy number variations for Alagille Syndrome 1 from CNVD:

7
# CNVD ID Chromosome 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:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

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

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.11 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
2
Show member pathways
13.71 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
3
Show member pathways
13.06 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG1
4
Show member pathways
12.94 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
5 12.9 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
6
Show member pathways
12.78 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
7
Show member pathways
12.77 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
8
Show member pathways
12.7 RBPJ NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
9 12.5 NOTCH4 NOTCH3 NOTCH2 NOTCH1
10 12.45 NOTCH4 NOTCH3 NOTCH2 NOTCH1
11
Show member pathways
12.43 ONECUT1 NOTCH1 HES7 DLL1
12
Show member pathways
12.33 RBPJ NOTCH1 JAG2 JAG1 HEY2 HEY1
13
Show member pathways
12.22 RBPJ NOTCH2 NOTCH1 JAG2 JAG1 DLL4
14 12.15 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
15 12.11 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
16
Show member pathways
12.09 NOTCH4 NOTCH3 NOTCH2 NOTCH1
17
Show member pathways
12.07 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
18 12 NOTCH4 NOTCH3 NOTCH2 NOTCH1
19 11.98 NOTCH4 NOTCH3 NOTCH2 NOTCH1
20 11.97 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG1 DLL4
21 11.92 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 HEY2
22
Show member pathways
11.91 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
23
Show member pathways
11.82 RBPJ ONECUT1 NOTCH1
24 11.73 RBPJ NOTCH4 NOTCH2 NOTCH1 JAG1 HES7
25 11.57 RBPJ NOTCH1 HEY2 HEY1
26 11.55 RBPJ NOTCH1 JAG2 JAG1
27 11.47 RBPJ NOTCH1 DLL1
28 11.47 NOTCH1 HEY2 HEY1
29 11.41 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
30 11.13 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
31 11.05 NOTCH1 JAG2 JAG1 DLL4 DLL3 DLL1
32 10.94 ABCB4 ABCB11
33 10.9 NOTCH1 MESP2 HES7 DLL1
34 10.88 NOTCH1 JAG1

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 plasma membrane GO:0005886 10.13 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
2 nuclear chromatin GO:0000790 9.85 RBPJ ONECUT1 MESP2 HEY2 HEY1 HES7
3 cell surface GO:0009986 9.8 NOTCH4 NOTCH3 NOTCH2 NOTCH1 APOA1
4 integral component of plasma membrane GO:0005887 9.56 NOTCH4 NOTCH2 JAG2 JAG1 DLL1 ATP8B1
5 apical plasma membrane GO:0016324 9.55 NOTCH1 JAG1 DLL1 ATP8B1 ABCB4
6 intercellular canaliculus GO:0046581 9.26 ABCB4 ABCB11
7 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 RBPJ NOTCH1

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

(show top 50) (show all 95)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.36 SRRT RBPJ ONECUT1 NOTCH4 NOTCH3 NOTCH2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.31 RBPJ ONECUT1 NOTCH3 NOTCH1 MESP2 JAG1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.28 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 HEY2
4 cell differentiation GO:0030154 10.21 ONECUT1 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
5 negative regulation of transcription, DNA-templated GO:0045892 10.2 RBPJ NOTCH1 HEY2 HEY1 HES7 ATP8B1
6 positive regulation of gene expression GO:0010628 10.18 RBPJ NOTCH1 HEY2 HEY1 DLL4 DLL1
7 multicellular organism development GO:0007275 10.13 NOTCH4 NOTCH3 NOTCH2 NOTCH1 MESP2 JAG2
8 angiogenesis GO:0001525 10.1 RBPJ NOTCH1 JAG1 HEY1 DLL4
9 negative regulation of gene expression GO:0010629 10.07 NOTCH2 NOTCH1 HEY2 DLL4
10 transcription initiation from RNA polymerase II promoter GO:0006367 10.07 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
11 regulation of cell proliferation GO:0042127 10.05 RBPJ NOTCH1 JAG2 JAG1
12 hemopoiesis GO:0030097 9.99 RBPJ NOTCH4 NOTCH2 JAG1 DLL1
13 cell fate commitment GO:0045165 9.98 RBPJ ONECUT1 NOTCH1 HEY2
14 negative regulation of neuron differentiation GO:0045665 9.97 NOTCH3 NOTCH1 JAG1 HEY1 DLL1
15 anterior/posterior pattern specification GO:0009952 9.95 HEY2 HEY1 HES7
16 cell communication GO:0007154 9.95 JAG2 JAG1 DLL4 DLL1
17 negative regulation of cell differentiation GO:0045596 9.95 RBPJ NOTCH4 NOTCH3 NOTCH1 JAG1 DLL1
18 liver development GO:0001889 9.94 ONECUT1 NOTCH2 NOTCH1
19 determination of left/right symmetry GO:0007368 9.94 NOTCH2 NOTCH1 DLL1
20 ventricular septum morphogenesis GO:0060412 9.94 RBPJ NOTCH1 HEY2 HEY1
21 heart looping GO:0001947 9.93 NOTCH2 NOTCH1 DLL1
22 aortic valve morphogenesis GO:0003180 9.93 NOTCH1 JAG1 HEY2 DLL4
23 somitogenesis GO:0001756 9.93 RBPJ MESP2 HES7 DLL3 DLL1
24 humoral immune response GO:0006959 9.92 RBPJ NOTCH2 NOTCH1
25 keratinocyte differentiation GO:0030216 9.92 RBPJ NOTCH1 JAG1
26 outflow tract morphogenesis GO:0003151 9.92 RBPJ NOTCH1 HEY2
27 epithelial to mesenchymal transition GO:0001837 9.91 RBPJ NOTCH4 NOTCH1
28 positive regulation of cardiac muscle cell proliferation GO:0060045 9.9 RBPJ NOTCH1 HEY2
29 positive regulation of BMP signaling pathway GO:0030513 9.9 RBPJ NOTCH2 NOTCH1
30 neuronal stem cell population maintenance GO:0097150 9.9 SRRT NOTCH1 JAG1 DLL1
31 blood vessel remodeling GO:0001974 9.88 RBPJ JAG1 DLL4
32 positive regulation of transcription of Notch receptor target GO:0007221 9.87 RBPJ NOTCH4 NOTCH3 NOTCH1
33 inflammatory response to antigenic stimulus GO:0002437 9.86 RBPJ NOTCH2 NOTCH1
34 cell fate determination GO:0001709 9.86 NOTCH4 NOTCH2 JAG1 DLL1
35 labyrinthine layer blood vessel development GO:0060716 9.85 RBPJ HEY2 HEY1
36 left/right axis specification GO:0070986 9.85 NOTCH2 NOTCH1 DLL1
37 ventricular trabecula myocardium morphogenesis GO:0003222 9.85 RBPJ NOTCH1 HEY2 DLL4
38 regulation of neurogenesis GO:0050767 9.85 NOTCH1 HEY2 HEY1 HES7 DLL4 DLL1
39 cardiac epithelial to mesenchymal transition GO:0060317 9.84 NOTCH1 HEY2 HEY1
40 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.84 RBPJ NOTCH1 HEY2
41 negative regulation of cell adhesion molecule production GO:0060354 9.83 NOTCH4 NOTCH1 APOA1
42 cardiac left ventricle morphogenesis GO:0003214 9.83 RBPJ NOTCH1 HEY2
43 cardiac septum morphogenesis GO:0060411 9.83 NOTCH1 JAG1 HEY2 HEY1
44 negative regulation of biomineral tissue development GO:0070168 9.82 NOTCH1 HEY2 HEY1
45 interleukin-4 secretion GO:0072602 9.81 RBPJ NOTCH2 NOTCH1
46 cardiac ventricle morphogenesis GO:0003208 9.81 NOTCH1 HEY2 HEY1 DLL4
47 dorsal aorta morphogenesis GO:0035912 9.8 RBPJ HEY2 HEY1 DLL4
48 pulmonary valve morphogenesis GO:0003184 9.8 NOTCH2 NOTCH1 JAG1 HEY2 HEY1
49 positive regulation of Notch signaling pathway GO:0045747 9.8 RBPJ NOTCH4 NOTCH1 JAG2 JAG1 DLL4
50 arterial endothelial cell differentiation GO:0060842 9.79 NOTCH1 HEY2 HEY1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.85 RBPJ ONECUT1 NOTCH1 MESP2 HEY2 HEY1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 RBPJ ONECUT1 MESP2 HEY2 HEY1 HES7
3 calcium ion binding GO:0005509 9.61 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
4 signaling receptor activity GO:0038023 9.56 NOTCH4 NOTCH3 NOTCH2 NOTCH1
5 protein dimerization activity GO:0046983 9.46 MESP2 HEY2 HEY1 HES7
6 Notch binding GO:0005112 9.17 NOTCH4 NOTCH1 JAG2 JAG1 DLL4 DLL3

Sources for Alagille Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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