ALGS1
MCID: ALG028
MIFTS: 70

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 74 29 6 72
Alagille Syndrome 57 12 75 24 53 25 59 74 37 13 55 44 15
Arteriohepatic Dysplasia 57 12 24 53 25 59 29 6
Alagille-Watson Syndrome 57 12 75 53 25 59 74
Cholestasis with Peripheral Pulmonary Stenosis 57 53 25 74
Hepatic Ductular Hypoplasia 53 25 72
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 74
Algs 57 74
Aws 57 74
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
Syndrome, Alagille, Type 1 40
Watson Alagille Syndrome 53
Alagille Syndrome; Algs 57
Alagille's Syndrome 25
Syndrome, Alagille 40
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
Miscellaneous:
incomplete penetrance
onset in infancy
variable expression
prevalence of 1 in 70,000

Inheritance:
autosomal dominant


HPO:

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


GeneReviews:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:9245
KEGG 37 H00551
MeSH 44 D016738
NCIt 50 C35139
SNOMED-CT 68 31742004
ICD10 33 Q44.7
MESH via Orphanet 45 D016738
ICD10 via Orphanet 34 Q44.7
UMLS via Orphanet 73 C0085280
UMLS 72 C0085280 C1956125 C2930797

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 progressive familial intrahepatic cholestasis. 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 PI3K-Akt signaling pathway. 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 failure to thrive and hepatomegaly

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 : 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.

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)

KEGG : 37
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 : 74 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 : 75 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 356)
# Related Disease Score Top Affiliating Genes
1 cholestasis 31.5 JAG1 ATP8B1 ABCB4
2 progressive familial intrahepatic cholestasis 30.6 ATP8B1 ABCB4
3 granulomatous angiitis 30.3 NOTCH1 JAG1
4 tricuspid valve stenosis 30.2 NOTCH1 JAG1
5 renal-hepatic-pancreatic dysplasia 30.1 NOTCH2 JAG1
6 nodular regenerative hyperplasia 30.0 NOTCH2 NOTCH1 JAG1
7 arcus corneae 29.6 LCAT APOA1
8 allan-herndon-dudley syndrome 12.3
9 lambert syndrome 12.0
10 alveolar echinococcosis 11.3
11 glycogen storage disease ixc 11.2
12 biliary atresia, extrahepatic 11.2
13 bile acid synthesis defect, congenital, 2 11.2
14 bile acid synthesis defect, congenital, 1 11.2
15 hardikar syndrome 11.2
16 aplastic anemia 10.7
17 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.6
18 biliary atresia 10.5
19 lacrimal gland adenoid cystic carcinoma 10.4 NOTCH2 NOTCH1
20 hypercholesterolemia, familial, 1 10.4
21 ossifying fibroma 10.4 NOTCH1 JAG1
22 mct8-specific thyroid hormone cell-membrane transporter deficiency 10.4
23 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.4 NOTCH1 JAG1
24 lung adenoma 10.4 NOTCH2 NOTCH1
25 liver disease 10.4
26 cholestasis, progressive familial intrahepatic, 4 10.4 ATP8B1 ABCB4
27 portal hypertension 10.3
28 cholestasis, progressive familial intrahepatic, 2 10.3 ATP8B1 ABCB4
29 tetralogy of fallot 10.3
30 peripheral pulmonary stenosis 10.3
31 nephronophthisis 9 10.3 NOTCH2 JAG1
32 neonatal jaundice 10.3
33 familial intrahepatic cholestasis 10.3
34 prune belly syndrome 10.3
35 fibrosis of extraocular muscles, congenital, 1 10.3
36 polykaryocytosis inducer 10.3
37 arthrogryposis, renal dysfunction, and cholestasis 1 10.3
38 cystic fibrosis 10.3
39 alkuraya-kucinskas syndrome 10.3
40 distal arthrogryposis 10.3
41 transient neonatal diabetes mellitus 10.3
42 hydronephrosis 10.3
43 neonatal diabetes mellitus 10.3
44 nephronophthisis 10.3
45 sclerosing cholangitis 10.3
46 peripheral nervous system disease 10.3
47 inherited metabolic disorder 10.3
48 axonal neuropathy 10.3
49 peroxisomal disease 10.3
50 hypopituitarism 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:

59 32 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 corneal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001131
4 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
5 cholestasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001396
6 reduced number of intrahepatic bile ducts 59 32 hallmark (90%) Very frequent (99-80%) HP:0006571
7 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
8 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
9 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
10 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
11 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
12 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
13 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
14 spina bifida occulta 59 32 frequent (33%) Frequent (79-30%) HP:0003298
15 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
16 long nose 59 32 frequent (33%) Frequent (79-30%) HP:0003189
17 butterfly vertebral arch 59 32 frequent (33%) Frequent (79-30%) HP:0004617
18 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
19 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
20 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
21 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
22 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
23 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
24 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
25 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
26 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
27 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
28 flat face 59 32 occasional (7.5%) Occasional (29-5%) HP:0012368
29 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
30 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
31 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
32 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
33 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
34 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
35 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
36 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
37 peripheral pulmonary artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004969
38 short distal phalanx of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009882
39 abnormality of the ureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000069
40 keratoconus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000563
41 hypoplasia of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0003022
42 abnormal pupil morphology 32 occasional (7.5%) HP:0000615
43 vesicoureteral reflux 32 very rare (1%) HP:0000076
44 hepatic failure 32 very rare (1%) HP:0001399
45 stage 5 chronic kidney disease 32 very rare (1%) HP:0003774
46 renal dysplasia 32 very rare (1%) HP:0000110
47 focal segmental glomerulosclerosis 32 very rare (1%) HP:0000097
48 renal tubular acidosis 32 very rare (1%) HP:0001947
49 renal artery stenosis 32 very rare (1%) HP:0001920
50 duplicated collecting system 32 very rare (1%) HP:0000081

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

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

Cardiovascular Vascular:
coarctation of aorta
cerebrovascular accidents
moyamoya syndrome

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

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

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 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 ABCB4 APOA1 JAG1 LCAT MESP2 NOTCH1
2 cellular MP:0005384 10.1 ABCB4 APOA1 JAG1 MESP2 NOTCH1 NOTCH2
3 endocrine/exocrine gland MP:0005379 10.03 ABCB4 APOA1 JAG1 LCAT NOTCH1 NOTCH2
4 homeostasis/metabolism MP:0005376 9.97 ABCB4 APOA1 ATP8B1 JAG1 LCAT NOTCH1
5 hematopoietic system MP:0005397 9.95 ABCB4 JAG1 LCAT NOTCH1 NOTCH2 RBPJ
6 embryo MP:0005380 9.93 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ SRRT
7 digestive/alimentary MP:0005381 9.88 ABCB4 JAG1 NOTCH1 NOTCH2 RBPJ
8 integument MP:0010771 9.8 APOA1 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ
9 liver/biliary system MP:0005370 9.8 ABCB4 APOA1 ATP8B1 JAG1 LCAT NOTCH1
10 muscle MP:0005369 9.55 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ
11 renal/urinary system MP:0005367 9.35 JAG1 LCAT NOTCH1 NOTCH2 RBPJ
12 skeleton MP:0005390 9.1 ABCB4 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ

Drugs & Therapeutics for Alagille Syndrome 1

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

(show all 35)
# 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 Antibiotics, Antitubercular Phase 4
4 Anti-Infective Agents Phase 4
5 penicillins Phase 4
6 Liver Extracts Phase 2
7 Bile Acids and Salts Phase 2
8 Gastrointestinal Agents Phase 2
9 Pharmaceutical Solutions Phase 2
10 Cola Phase 1
11 Cholestyramine Resin Phase 1
12 Lipid Regulating Agents Phase 1
13 Hypolipidemic Agents Phase 1
14 Antimetabolites Phase 1
15 Anticholesteremic Agents Phase 1
16
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
17
Calcium Approved, Nutraceutical 7440-70-2 271
18
Serine Approved, Nutraceutical 56-45-1 5951
19 Analgesics
20 Hormones
21 Central Nervous System Depressants
22 Tocolytic Agents
23 Peripheral Nervous System Agents
24 Anesthetics
25 Anti-Arrhythmia Agents
26 Anticonvulsants
27 calcium channel blockers
28 Calcium, Dietary
29 Alpha 1-Antitrypsin
30 Protein C Inhibitor
31 Hematinics
32
protease inhibitors
33 HIV Protease Inhibitors
34 Trypsin Inhibitors
35 Serine Proteinase Inhibitors

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Temocillin Pharmacokinetics in Paediatrics Recruiting 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 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
4 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 Active, not recruiting NCT02160782 Phase 2 LUM001;Placebo
5 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 Active, not recruiting NCT02047318 Phase 2 LUM001
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 Active, not recruiting NCT02117713 Phase 2 LUM001
7 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
8 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
9 Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Completed NCT00001642
10 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 magnesium gluconate;magnesium sulfate
11 Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Completed NCT01515631
12 Validation of the ItchRO Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
13 Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis Recruiting NCT00571272
14 Longitudinal Study of Mitochondrial Hepatopathies Recruiting NCT01148550
15 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
16 Childhood Liver Disease Research Network (ChiLDReN): FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Active, not recruiting NCT02922751

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:

41
Liver, Skin, Kidney, Heart, 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 767)
# Title Authors PMID Year
1
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome. 9 38 8 71
12239725 2002
2
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9 38 8 71
9207788 1997
3
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 9 38 4 8
19948535 2010
4
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 9 38 4 71
16773578 2006
5
Consequences of JAG1 mutations. 9 38 4 8
14684686 2003
6
Craniosynostosis in Alagille syndrome. 9 38 4 8
12244552 2002
7
Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. 38 8 71
12244555 2002
8
Parental mosaicism of JAG1 mutations in families with Alagille syndrome. 9 38 4 8
11313761 2001
9
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. 9 38 4 71
11157803 2001
10
Jagged1 mutations in patients ascertained with isolated congenital heart defects. 9 38 4 71
10213047 1999
11
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. 9 38 4 71
9585603 1998
12
Mutations in the human Jagged1 gene are responsible for Alagille syndrome. 38 8 71
9207787 1997
13
Moyamoya vascular pattern in Alagille syndrome. 38 4 8
22759690 2012
14
Alagille syndrome: pathogenesis, diagnosis and management. 38 4 8
21934706 2012
15
Renal anomalies in Alagille syndrome: a disease-defining feature. 38 4 8
22105858 2012
16
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. 38 4 8
14993126 2004
17
Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. 38 4 8
12244551 2002
18
Ocular abnormalities in Alagille syndrome. 38 4 8
9951486 1999
19
Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy. 38 4 8
9925853 1999
20
Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1. 9 38 8
18266235 2008
21
Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. 9 38 8
17720887 2007
22
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome. 9 38 8
15772854 2005
23
Studies of the aetiology of neonatal hepatitis and biliary atresia. 4 8
559475 1977
24
De novo formation of the biliary system by TGFβ-mediated hepatocyte transdifferentiation. 38 8
29720662 2018
25
Clinical utility gene card for: Alagille Syndrome (ALGS). 38 71
23881058 2014
26
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 9 38 4
20437614 2010
27
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 9 38 4
16575836 2006
28
Re: Article by Kamath et al.-"Facial features in Alagille Syndrome". 38 8
14699626 2004
29
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. 9 38 4
12649809 2003
30
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. 9 38 4
12497640 2003
31
Bleeding tendency in children with Alagille syndrome. 38 8
12509572 2003
32
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. 9 38 4
12427653 2002
33
Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion. 9 38 4
12244554 2002
34
Facial features in Alagille syndrome: specific or cholestasis facies? 38 8
12244550 2002
35
Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. 38 8
11511567 2001
36
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. 9 38 4
11180599 2001
37
Jagged1 mutations in alagille syndrome. 9 38 4
11139239 2001
38
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 9 38 4
11152664 2001
39
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. 9 38 4
11058898 2000
40
JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. 9 38 4
10960452 2000
41
Severe hypodontia and oral xanthomas in Alagille syndrome. 38 8
10925392 2000
42
Alagille Syndrome 38 71
20301450 2000
43
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 9 38 4
10220506 1999
44
Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome. 9 38 4
10429362 1999
45
Mutational analysis of the Jagged 1 gene in Alagille syndrome families. 38 8
9700188 1998
46
Alagille syndrome. 38 8
9039994 1997
47
Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20). 38 8
8826431 1996
48
Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. 38 8
7485156 1995
49
Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus. 38 8
7558028 1995
50
Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family. 38 8
7789956 1995

Variations for Alagille Syndrome 1

ClinVar genetic disease variations for Alagille Syndrome 1:

6 (show top 50) (show all 196)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 JAG1 NM_000214.3(JAG1): c.3006C> A (p.Cys1002Ter) single nucleotide variant Pathogenic rs372984801 20:10621803-10621803 20:10641155-10641155
2 JAG1 NM_000214.3(JAG1): c.2844C> A (p.Cys948Ter) single nucleotide variant Pathogenic rs1060501352 20:10622180-10622180 20:10641532-10641532
3 JAG1 NM_000214.3(JAG1): c.1353dup (p.Asn452Ter) duplication Pathogenic rs1060501347 20:10629751-10629751 20:10649103-10649103
4 JAG1 NM_000214.3(JAG1): c.2840del (p.Lys947fs) deletion Pathogenic rs1060501349 20:10622184-10622184 20:10641536-10641536
5 JAG1 NM_000214.3(JAG1): c.2688G> A (p.Trp896Ter) single nucleotide variant Pathogenic rs1060501350 20:10622336-10622336 20:10641688-10641688
6 JAG1 NM_000214.3(JAG1): c.543T> A (p.Tyr181Ter) single nucleotide variant Pathogenic rs1060501351 20:10639267-10639267 20:10658619-10658619
7 JAG1 NM_000214.3(JAG1): c.2966dup (p.Leu989fs) duplication Pathogenic rs1555827729 20:10621843-10621843 20:10641195-10641195
8 JAG1 NM_000214.3(JAG1): c.1713dup (p.Cys572fs) duplication Pathogenic rs1555828546 20:10628615-10628615 20:10647967-10647967
9 JAG1 NM_000214.3(JAG1): c.3164_3167del (p.Val1055fs) deletion Pathogenic rs1555827653 20:10621463-10621466 20:10640815-10640818
10 JAG1 NM_000214.3(JAG1): c.2113+5G> C single nucleotide variant Pathogenic rs886044704 20:10625999-10625999 20:10645351-10645351
11 JAG1 NM_000214.3(JAG1): c.3166_3167AG[1] (p.Arg1056fs) short repeat Pathogenic rs1555827650 20:10621461-10621462 20:10640813-10640814
12 JAG1 NM_000214.3(JAG1): c.2473C> T (p.Gln825Ter) single nucleotide variant Pathogenic rs1437309558 20:10623235-10623235 20:10642587-10642587
13 JAG1 NM_000214.3(JAG1): c.932del (p.Thr311fs) deletion Pathogenic rs1555829037 20:10632853-10632853 20:10652205-10652205
14 JAG1 NM_000214.3(JAG1): c.350del (p.Arg117fs) deletion Pathogenic rs1555830929 20:10653386-10653386 20:10672738-10672738
15 JAG1 NM_000214.3(JAG1): c.2774_2788delinsCCAGGGCA (p.Cys925fs) indel Pathogenic rs1555827769 20:10622236-10622250 20:10641588-10641602
16 JAG1 NM_000214.3(JAG1): c.2639_2640del (p.Asp879_Cys880insTer) deletion Pathogenic 20:10622473-10622474 20:10641825-10641826
17 JAG1 NM_000214.3(JAG1): c.2916+1G> C single nucleotide variant Pathogenic 20:10622107-10622107 20:10641459-10641459
18 JAG1 NM_000214.3(JAG1): c.693_694del (p.Arg231Serfs) deletion Pathogenic 20:10639116-10639117 20:10658468-10658469
19 JAG1 NM_000214.3(JAG1): c.1656del (p.Glu553fs) deletion Pathogenic 20:10628672-10628672 20:10648024-10648024
20 JAG1 NM_000214.3(JAG1): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121918350 20:10639260-10639260 20:10658612-10658612
21 JAG1 NM_000214.3(JAG1): c.551G> A (p.Arg184His) single nucleotide variant Pathogenic rs121918351 20:10639259-10639259 20:10658611-10658611
22 JAG1 NM_000214.3(JAG1): c.2096_2100del (p.Gly699Aspfs) deletion Pathogenic 20:10626017-10626021 20:10645369-10645373
23 JAG1 JAG1, 1-BP INS, 684G insertion Pathogenic
24 JAG1 NM_000214.3(JAG1): c.110T> C (p.Leu37Ser) single nucleotide variant Pathogenic rs121918352 20:10653626-10653626 20:10672978-10672978
25 JAG1 JAG1, 1329, T-G, +2 single nucleotide variant Pathogenic
26 JAG1 NM_000214.3(JAG1): c.2118_2121CAGT[1] (p.Gln708fs) short repeat Pathogenic rs727504412 20:10625893-10625896 20:10645245-10645248
27 JAG1 NM_000214.3(JAG1): c.1205dup (p.Gln403fs) duplication Pathogenic rs35615084 20:10630924-10630924 20:10650276-10650276
28 JAG1 NM_000214.3(JAG1): c.910C> T (p.Gln304Ter) single nucleotide variant Pathogenic rs863223649 20:10632875-10632875 20:10652227-10652227
29 JAG1 NM_000214.3(JAG1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs876660980 20:10637098-10637098 20:10656450-10656450
30 JAG1 NM_000214.3(JAG1): c.2895dup (p.Asn966Ter) duplication Pathogenic rs878853752 20:10622129-10622129 20:10641481-10641481
31 JAG1 NM_000214.3(JAG1): c.1485_1486del (p.Cys496fs) deletion Pathogenic rs876660981 20:10629280-10629281 20:10648632-10648633
32 JAG1 NM_000214.3(JAG1): c.2418C> A (p.Cys806Ter) single nucleotide variant Pathogenic rs533306015 20:10624466-10624466 20:10643818-10643818
33 JAG1 NM_000214.2(JAG1): c.2096_2100delGAAAG (p.Gly699Aspfs) deletion Pathogenic rs886039393 20:10626017-10626021 20:10645369-10645373
34 JAG1 NM_000214.3(JAG1): c.2342dup (p.Asn782fs) duplication Pathogenic rs886039887 20:10625513-10625513 20:10644865-10644865
35 JAG1 NM_000214.3(JAG1): c.841C> T (p.Gln281Ter) single nucleotide variant Pathogenic rs886043603 20:10633161-10633161 20:10652513-10652513
36 JAG1 NM_000214.3(JAG1): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs886043606 20:10644611-10644611 20:10663963-10663963
37 JAG1 NC_000020.10: g.(?_10620126)_(10620623_?)del deletion Pathogenic 20:10620126-10620623 20:10639478-10639975
38 JAG1 NM_000214.3(JAG1): c.2173dup (p.Asp725fs) duplication Pathogenic 20:10625845-10625845 20:10645197-10645197
39 JAG1 NM_000214.3(JAG1): c.2113+1G> T single nucleotide variant Pathogenic 20:10626003-10626003 20:10645355-10645355
40 JAG1 NM_000214.3(JAG1): c.1446_1448delinsC (p.His483fs) indel Pathogenic 20:10629318-10629320 20:10648670-10648672
41 JAG1 NM_000214.3(JAG1): c.2532T> A (p.Cys844Ter) single nucleotide variant Pathogenic 20:10623176-10623176 20:10642528-10642528
42 JAG1 NM_000214.3(JAG1): c.2503_2504TG[2] (p.Val836fs) short repeat Pathogenic 20:10623200-10623201 20:10642552-10642553
43 JAG1 NM_000214.3(JAG1): c.1977G> A (p.Trp659Ter) single nucleotide variant Pathogenic 20:10626641-10626641 20:10645993-10645993
44 JAG1 NM_000214.3(JAG1): c.1856_1857del (p.Lys619fs) deletion Pathogenic 20:10627615-10627616 20:10646968-10646969
45 JAG1 NM_000214.3(JAG1): c.1375C> T (p.Gln459Ter) single nucleotide variant Pathogenic 20:10629729-10629729 20:10649081-10649081
46 JAG1 NM_000214.3(JAG1): c.1057G> T (p.Glu353Ter) single nucleotide variant Pathogenic 20:10632292-10632292 20:10651644-10651644
47 JAG1 NM_000214.3(JAG1): c.238A> T (p.Lys80Ter) single nucleotide variant Pathogenic 20:10653498-10653498 20:10672850-10672850
48 JAG1 ; MKKS ; SLX4IP ; SNAP25 GRCh37/hg19 20p12.2(chr20: 10124855-11479105) copy number loss Pathogenic 20:10124855-11479105 :0-0
49 JAG1 NM_000214.3(JAG1): c.3008_3012dup (p.Pro1006fs) duplication Pathogenic 20:10621796-10621797 20:10641149-10641153
50 JAG1 NM_000214.3(JAG1): c.142G> T (p.Glu48Ter) single nucleotide variant Pathogenic 20:10653594-10653594 20:10672946-10672946

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

74 (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 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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 RBPJ NOTCH2 NOTCH1 JAG1
2
Show member pathways
12.59 RBPJ NOTCH2 NOTCH1 JAG1
3
Show member pathways
12.24 RBPJ NOTCH2 NOTCH1 JAG1
4
Show member pathways
11.94 RBPJ NOTCH1 JAG1
5 11.82 RBPJ NOTCH2 NOTCH1
6 11.82 RBPJ NOTCH2 NOTCH1 JAG1
7
Show member pathways
11.75 RBPJ NOTCH2 NOTCH1
8 11.62 RBPJ NOTCH2 NOTCH1
9 11.49 NOTCH2 NOTCH1 JAG1
10
Show member pathways
11.41 RBPJ NOTCH2 NOTCH1 JAG1
11 11.31 NOTCH1 MESP2
12 11.26 RBPJ NOTCH1
13 11.23 RBPJ NOTCH1
14 11.16 RBPJ NOTCH1 JAG1
15 10.88 RBPJ NOTCH2 NOTCH1
16 10.78 NOTCH1 JAG1
17 10.74 NOTCH1 JAG1
18 10.5 NOTCH1 MESP2
19 10.36 RBPJ NOTCH2 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 apical plasma membrane GO:0016324 9.26 NOTCH1 JAG1 ATP8B1 ABCB4
2 high-density lipoprotein particle GO:0034364 9.16 LCAT APOA1
3 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 all 50)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.87 RBPJ NOTCH1 JAG1
2 regulation of cell proliferation GO:0042127 9.85 RBPJ NOTCH1 JAG1
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.85 RBPJ NOTCH2 NOTCH1
4 lipid transport GO:0006869 9.81 ATP8B1 APOA1 ABCB4
5 keratinocyte differentiation GO:0030216 9.76 RBPJ NOTCH1 JAG1
6 hemopoiesis GO:0030097 9.75 RBPJ NOTCH2 JAG1
7 negative regulation of cell differentiation GO:0045596 9.72 RBPJ NOTCH1 JAG1
8 negative regulation of cold-induced thermogenesis GO:0120163 9.71 RBPJ NOTCH1
9 animal organ regeneration GO:0031100 9.71 NOTCH1 APOA1
10 phospholipid transport GO:0015914 9.7 ATP8B1 APOA1
11 ventricular septum morphogenesis GO:0060412 9.7 RBPJ NOTCH1
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.7 RBPJ NOTCH1
13 epithelial to mesenchymal transition GO:0001837 9.7 RBPJ NOTCH1
14 positive regulation of BMP signaling pathway GO:0030513 9.69 RBPJ NOTCH1
15 blood vessel remodeling GO:0001974 9.69 RBPJ JAG1
16 phosphatidylcholine biosynthetic process GO:0006656 9.68 LCAT APOA1
17 phospholipid translocation GO:0045332 9.68 ATP8B1 ABCB4
18 cholesterol transport GO:0030301 9.68 LCAT APOA1
19 negative regulation of ossification GO:0030279 9.67 RBPJ NOTCH1
20 positive regulation of Notch signaling pathway GO:0045747 9.67 RBPJ NOTCH1 JAG1
21 aortic valve morphogenesis GO:0003180 9.66 NOTCH1 JAG1
22 positive regulation of Ras protein signal transduction GO:0046579 9.66 NOTCH2 NOTCH1
23 reverse cholesterol transport GO:0043691 9.65 LCAT APOA1
24 positive regulation of transcription of Notch receptor target GO:0007221 9.65 RBPJ NOTCH1
25 cell fate determination GO:0001709 9.65 NOTCH2 JAG1
26 high-density lipoprotein particle remodeling GO:0034375 9.64 LCAT APOA1
27 ventricular trabecula myocardium morphogenesis GO:0003222 9.63 RBPJ NOTCH1
28 negative regulation of stem cell differentiation GO:2000737 9.63 NOTCH1 JAG1
29 inflammatory response to antigenic stimulus GO:0002437 9.62 RBPJ NOTCH1
30 cardiac septum morphogenesis GO:0060411 9.62 NOTCH1 JAG1
31 response to muramyl dipeptide GO:0032495 9.61 NOTCH1 JAG1
32 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.61 RBPJ NOTCH1
33 cardiac left ventricle morphogenesis GO:0003214 9.6 RBPJ NOTCH1
34 very-low-density lipoprotein particle remodeling GO:0034372 9.59 LCAT APOA1
35 lipoprotein biosynthetic process GO:0042158 9.57 LCAT APOA1
36 interleukin-4 secretion GO:0072602 9.56 RBPJ NOTCH1
37 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.54 RBPJ NOTCH1
38 regulation of developmental process GO:0050793 9.52 NOTCH2 NOTCH1
39 endocardium development GO:0003157 9.51 RBPJ NOTCH1
40 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.48 RBPJ NOTCH1
41 negative regulation of growth rate GO:0045967 9.46 NOTCH2 NOTCH1
42 distal tubule development GO:0072017 9.43 NOTCH1 JAG1
43 neuronal stem cell population maintenance GO:0097150 9.43 SRRT NOTCH1 JAG1
44 auditory receptor cell fate commitment GO:0009912 9.4 RBPJ NOTCH1
45 drug transmembrane transport GO:0006855 9.37 ATP8B1
46 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.37 NOTCH1 JAG1
47 Notch signaling pathway GO:0007219 9.35 RBPJ NOTCH2 NOTCH1 MESP2 JAG1
48 pulmonary valve morphogenesis GO:0003184 9.33 NOTCH2 NOTCH1 JAG1
49 endocardium morphogenesis GO:0003160 9.32 RBPJ NOTCH1
50 Notch signaling involved in heart development GO:0061314 8.92 RBPJ NOTCH2 NOTCH1 JAG1

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

# Name GO ID Score Top Affiliating Genes
1 lipid transporter activity GO:0005319 9.16 ATP8B1 APOA1
2 Notch binding GO:0005112 8.96 NOTCH1 JAG1
3 phospholipid transporter activity GO:0005548 8.62 APOA1 ABCB4

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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