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 58 76 30 6 74
Alagille Syndrome 58 39 12 77 25 54 26 60 76 38 13 56 45 15 41
Arteriohepatic Dysplasia 58 12 25 54 26 60 30 6
Alagille-Watson Syndrome 58 12 77 54 26 60 76
Cholestasis with Peripheral Pulmonary Stenosis 58 54 26 76
Hepatic Ductular Hypoplasia 54 26 74
Hepatofacioneurocardiovertebral Syndrome 54 26
Paucity of Interlobular Bile Ducts 54 26
Syndromic Bile Duct Paucity 25 60
Cardiovertebral Syndrome 54 26
Watson-Miller Syndrome 54 26
Algs1 58 76
Algs 58 76
Aws 58 76
Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation 60
Alagille-Watson Syndrome Due to a Jag1 Point Mutation 60
Arteriohepatic Dysplasia Due to a Jag1 Point Mutation 60
Syndromic Bile Duct Paucity Due to Monosomy 20p12 60
Alagille-Watson Syndrome Due to Monosomy 20p12 60
Arteriohepatic Dysplasia Due to Monosomy 20p12 60
Alagille Syndrome Due to a Jag1 Point Mutation 60
Alagille Syndrome Due to 20p12 Microdeletion 60
Hepatic Ductular Hypoplasia, Syndromatic 58
Alagille Syndrome Due to Monosomy 20p12 60
Alagille Syndrome Due to Del(20)(p12) 60
Alagille-Watson Syndrome; Aws 58
Arteriohepatic Dysplasia; Ahd 58
Watson Alagille Syndrome 54
Alagille Syndrome; Algs 58
Alagille's Syndrome 26
Ahd 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

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


HPO:

33
alagille syndrome 1:
Onset and clinical course incomplete penetrance infantile onset
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Algs demonstrates highly variable expressivity with clinical features ranging from subclinical to severe...

Classifications:



Summaries for Alagille Syndrome 1

NIH Rare Diseases : 54 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 Canonical Notch Ligand 1), and among its related pathways/superpathways are Notch signaling pathway and PI3K-Akt signaling pathway. The drugs Bile Acids and Salts and Liver Extracts 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.

Genetics Home Reference : 26 Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.

OMIM : 58 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 : 76 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 : 77 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 152)
# Related Disease Score Top Affiliating Genes
1 cholestasis 30.7 ABCB4 ATP8B1 JAG1
2 progressive familial intrahepatic cholestasis 30.3 ABCB4 ATP8B1
3 alagille syndrome 2 12.6
4 allan-herndon-dudley syndrome 11.8
5 lambert syndrome 11.5
6 alveolar echinococcosis 11.2
7 glycogen storage disease ixc 11.1
8 biliary atresia, extrahepatic 11.1
9 bile acid synthesis defect, congenital, 2 11.1
10 bile acid synthesis defect, congenital, 1 11.1
11 hardikar syndrome 11.1
12 aplastic anemia 10.5
13 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
14 mct8-specific thyroid hormone cell-membrane transporter deficiency 10.4
15 biliary atresia 10.3
16 prune belly syndrome 10.3
17 exocrine pancreatic insufficiency 10.3
18 cytomegalovirus infection 10.3
19 lacrimal gland adenoid cystic carcinoma 10.3 NOTCH1 NOTCH2
20 ossifying fibroma 10.2 JAG1 NOTCH1
21 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.2 JAG1 NOTCH1
22 lung adenoma 10.2 NOTCH1 NOTCH2
23 watson syndrome 10.2
24 cholestasis, progressive familial intrahepatic, 4 10.2 ABCB4 ATP8B1
25 granulomatous angiitis 10.2 JAG1 NOTCH1
26 cholestasis, progressive familial intrahepatic, 2 10.2 ABCB4 ATP8B1
27 hepatocellular carcinoma 10.2
28 liver disease 10.2
29 tricuspid valve stenosis 10.2 JAG1 NOTCH1
30 nephronophthisis 9 10.2 JAG1 NOTCH2
31 renal-hepatic-pancreatic dysplasia 10.1 JAG1 NOTCH2
32 nodular regenerative hyperplasia 10.1 JAG1 NOTCH1 NOTCH2
33 withdrawal disorder 10.1
34 bilirubin metabolic disorder 10.1
35 biliary hypoplasia 10.1
36 peripheral pulmonary stenosis 10.1
37 oliver syndrome 10.1 NOTCH1 RBPJ
38 keratoconus 10.1
39 cholestasis, progressive familial intrahepatic, 3 10.1 ABCB4 ATP8B1 JAG1
40 cholestasis, progressive familial intrahepatic, 1 10.1 ABCB4 ATP8B1 JAG1
41 diarrhea 10.1
42 spondyloenchondrodysplasia 10.1
43 intrahepatic cholestasis of pregnancy 10.0 ABCB4 ATP8B1 JAG1
44 aplasia cutis congenita 10.0 NOTCH1 RBPJ
45 pelger-huet anomaly 10.0
46 autoimmune lymphoproliferative syndrome, type v 10.0
47 spinal cord injury 10.0
48 lymphoproliferative syndrome 10.0
49 pure red-cell aplasia 10.0
50 macrophagic myofasciitis 10.0

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:

60 33 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
3 corneal dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001131
4 ventricular septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001629
5 cholestasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001396
6 reduced number of intrahepatic bile ducts 60 33 hallmark (90%) Very frequent (99-80%) HP:0006571
7 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
8 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
9 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
10 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
11 telangiectasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0100585
12 round face 60 33 frequent (33%) Frequent (79-30%) HP:0000311
13 pointed chin 60 33 frequent (33%) Frequent (79-30%) HP:0000307
14 spina bifida occulta 60 33 frequent (33%) Frequent (79-30%) HP:0003298
15 vertebral segmentation defect 60 33 frequent (33%) Frequent (79-30%) HP:0003422
16 long nose 60 33 frequent (33%) Frequent (79-30%) HP:0003189
17 butterfly vertebral arch 60 33 frequent (33%) Frequent (79-30%) HP:0004617
18 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
19 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
20 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
21 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
22 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
23 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
24 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
25 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
26 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
27 flat face 60 33 occasional (7.5%) Occasional (29-5%) HP:0012368
28 specific learning disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001328
29 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
30 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
31 nephrotic syndrome 60 33 occasional (7.5%) Occasional (29-5%) HP:0000100
32 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
33 deeply set eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0000490
34 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
35 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
36 abnormality of the ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000772
37 peripheral pulmonary artery stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004969
38 short distal phalanx of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0009882
39 abnormality of the ureter 60 33 occasional (7.5%) Occasional (29-5%) HP:0000069
40 keratoconus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000563
41 hypoplasia of the ulna 60 33 occasional (7.5%) Occasional (29-5%) HP:0003022
42 abnormal pupil morphology 33 occasional (7.5%) HP:0000615
43 hepatic failure 33 very rare (1%) HP:0001399
44 vesicoureteral reflux 33 very rare (1%) HP:0000076
45 stage 5 chronic kidney disease 33 very rare (1%) HP:0003774
46 focal segmental glomerulosclerosis 33 very rare (1%) HP:0000097
47 renal tubular acidosis 33 very rare (1%) HP:0001947
48 renal dysplasia 33 very rare (1%) HP:0000110
49 renal artery stenosis 33 very rare (1%) HP:0001920
50 duplicated collecting system 33 very rare (1%) HP:0000081

Symptoms via clinical synopsis from OMIM:

58
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 tubular acidosis
renal dysplasia
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

GenomeRNAi Phenotypes related to Alagille Syndrome 1 according to GeneCards Suite gene sharing:

27
# 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:

47 (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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts Phase 2
2 Liver Extracts Phase 2,Not Applicable
3 Pharmaceutical Solutions Phase 2
4 Cola Phase 1
5 Anticholesteremic Agents Phase 1
6 Lipid Regulating Agents Phase 1
7 Cholestyramine Resin Phase 1
8 Antimetabolites Phase 1
9 Hypolipidemic Agents Phase 1
10
Magnesium Sulfate Approved, Investigational, Vet_approved Not Applicable 7487-88-9 24083
11
Pancrelipase Approved, Investigational 53608-75-6
12
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
13
Serine Approved, Nutraceutical 56-45-1 5951
14 Alpha 1-Antitrypsin
15 Protein C Inhibitor
16 Peripheral Nervous System Agents Not Applicable
17 Hormones Not Applicable
18 calcium channel blockers Not Applicable
19 Calcium, Dietary Not Applicable
20 Anesthetics Not Applicable
21 Anticonvulsants Not Applicable
22 Analgesics Not Applicable
23 Tocolytic Agents Not Applicable
24 Central Nervous System Depressants Not Applicable
25 Anti-Arrhythmia Agents Not Applicable
26
protease inhibitors
27 HIV Protease Inhibitors
28 Trypsin Inhibitors
29 Serine Proteinase Inhibitors
30 Hematinics
31 pancreatin

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of LUM001 With a Drug Withdrawal Period in Participants With Alagille Syndrome (ALGS) Active, not recruiting NCT02160782 Phase 2 LUM001;Placebo
2 Evaluation of LUM001 in the Reduction of Pruritus in Alagille Syndrome Completed NCT02057692 Phase 2 LUM001;Placebo
3 An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Pediatric Subjects With Alagille Syndrome Active, not recruiting NCT02117713 Phase 2 LUM001
4 Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille Syndrome Completed NCT01903460 Phase 2 LUM001;Placebo
5 An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Subjects With Alagille Syndrome (ALGS) Active, not recruiting NCT02047318 Phase 2 LUM001
6 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
7 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
8 Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Review Completed NCT01515631
9 Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Completed NCT00001642
10 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
11 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
12 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 Not Applicable magnesium gluconate;magnesium sulfate
13 FibroScan™ in Pediatric Cholestatic Liver Disease (FORCE) Enrolling by invitation NCT02922751
14 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
15 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682

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 30 JAG1
2 Arteriohepatic Dysplasia 30

Anatomical Context for Alagille Syndrome 1

MalaCards organs/tissues related to Alagille Syndrome 1:

42
Liver, Heart, Skin, 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 431)
# Title Authors Year
1
Outcomes of liver transplantation for Alagille syndrome after Kasai portoenterostomy: Alagille Syndrome with agenesis of extrahepatic bile ducts at porta hepatis. ( 31104835 )
2019
2
Alagille syndrome, lipoprotein X, and false hyponatremia. ( 31021323 )
2019
3
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review. ( 30791938 )
2019
4
Visceral artery anomalies in patients with Alagille syndrome. ( 30623995 )
2019
5
Hepatobiliary and Pancreatic: Hepatic arterioportal fistula: A novel and treatable feature of Alagille syndrome. ( 30565330 )
2019
6
A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation. ( 29985876 )
2019
7
Alagille syndrome: an uncommon cause of intrahepatic cholestasis in adults. ( 30746957 )
2019
8
Asymmetric Lateral Rectus Muscle Insertion Presenting as Esotropia in a Child With Alagille Syndrome. ( 30388280 )
2018
9
Alagille Syndrome and the Liver: Current Insights. ( 30828556 )
2018
10
Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome. ( 30761079 )
2018
11
Alagille syndrome: a case report. ( 30543192 )
2018
12
Placebo-Controlled Randomized Trial of an Intestinal Bile Salt Transport Inhibitor for Pruritus in Alagille Syndrome. ( 30288474 )
2018
13
Alagille Syndrome. ( 30266153 )
2018
14
Successful living donor liver transplantation after stent implantation in a patient with Alagille syndrome and severe bilateral pulmonary artery stenosis. ( 30160645 )
2018
15
Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities. ( 30074189 )
2018
16
Outcomes of Alagille syndrome following the Kasai operation: a systematic review and meta-analysis. ( 30073479 )
2018
17
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome. ( 30046498 )
2018
18
JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families. ( 29956768 )
2018
19
Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome. ( 29879405 )
2018
20
Radiological changes of spine and liver in a case of Alagille syndrome. ( 29774190 )
2018
21
Surgical outcomes in Alagille syndrome and PFIC: A single institution's 20-year experience. ( 29729773 )
2018
22
Renal manifestations in children with Alagille syndrome. ( 29557611 )
2018
23
Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome. ( 29543694 )
2018
24
A New Model of Alagille Syndrome With Broad Phenotypic Representation. ( 29425927 )
2018
25
Spectrum of cerebral arterial and venous abnormalities in Alagille syndrome. ( 29362841 )
2018
26
Experimental model: A new mouse model of Alagille syndrome. ( 29235546 )
2018
27
An Atypical Presentation of Alagille Syndrome. ( 29187043 )
2018
28
Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations. ( 29162437 )
2018
29
Anterior Unilateral Plagiocephaly in Patient with Alagille Syndrome: Case Report. ( 29530693 )
2018
30
Hepatic Adenoma Arising in a Patient With Alagille Syndrome: A Case Report. ( 29516774 )
2018
31
[Clinical and genetic analysis of eleven pediatric patients with Alagille syndrome]. ( 29783821 )
2018
32
A case of Alagille syndrome presenting with chronic cholestasis in an adult. ( 28683534 )
2017
33
Xanthogranulomatous osteomyelitis of the humerus in a pediatric patient with Alagille syndrome: a case report and literature review. ( 28660405 )
2017
34
Extreme Renal Pathology in Alagille Syndrome. ( 29318215 )
2017
35
Alagille syndrome: Genetics and Functional Models. ( 29270332 )
2017
36
Alagille Syndrome: An Overview. ( 29185945 )
2017
37
Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method. ( 28901437 )
2017
38
Leptochoroid in a Case of Alagille Syndrome (Arteriohepatic Dysplasia). ( 28734329 )
2017
39
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome. ( 28695677 )
2017
40
Alagille syndrome with atypical phenotype diagnosed by molecular tests: unreported JAG1 mutation. ( 28648591 )
2017
41
Clinical characteristics and outcome of liver transplantation for Alagille syndrome in children. ( 28644566 )
2017
42
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
43
Frequency and pathogenesis of central liver nodules in Alagille syndrome patients: Reply to Libbrecht and Cassiman. ( 28478502 )
2017
44
Frequency and pathogenesis of central liver nodules in Alagille syndrome patients. ( 28474254 )
2017
45
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. ( 28465853 )
2017
46
On the Pathogenesis of Central Liver Nodules in Alagille Syndrome. ( 28231074 )
2017
47
Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation. ( 28141679 )
2017
48
New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities. ( 27967296 )
2017
49
Giant hepatic regenerative nodules in Alagille syndrome. ( 27796468 )
2017
50
Calcified atherosclerosis of the pulmonary trunk, stenosis of the main pulmonary arteries, and post-stenotic dilation of segmental pulmonary arteries in a patient with Alagille syndrome. ( 27242248 )
2017

Variations for Alagille Syndrome 1

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

76 (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
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 363)
# Gene Variation Type Significance SNP ID Assembly Location
1 JAG1 NM_000214.3(JAG1): c.2122_2125del (p.Gln708Valfs) deletion Pathogenic rs727504412 GRCh38 Chromosome 20, 10645245: 10645248
2 JAG1 NM_000214.3(JAG1): c.2122_2125del (p.Gln708Valfs) deletion Pathogenic rs727504412 GRCh37 Chromosome 20, 10625893: 10625896
3 JAG1 NM_000214.3(JAG1): c.2810G> A (p.Arg937Gln) single nucleotide variant Benign/Likely benign rs145895196 GRCh38 Chromosome 20, 10641566: 10641566
4 JAG1 NM_000214.3(JAG1): c.2810G> A (p.Arg937Gln) single nucleotide variant Benign/Likely benign rs145895196 GRCh37 Chromosome 20, 10622214: 10622214
5 JAG1 NM_000214.3(JAG1): c.2766C> T (p.Asp922=) single nucleotide variant Benign/Likely benign rs2229895 GRCh38 Chromosome 20, 10641610: 10641610
6 JAG1 NM_000214.3(JAG1): c.2766C> T (p.Asp922=) single nucleotide variant Benign/Likely benign rs2229895 GRCh37 Chromosome 20, 10622258: 10622258
7 JAG1 NM_000214.3(JAG1): c.1826C> T (p.Ser609Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199505265 GRCh37 Chromosome 20, 10627646: 10627646
8 JAG1 NM_000214.3(JAG1): c.1826C> T (p.Ser609Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199505265 GRCh38 Chromosome 20, 10646998: 10646998
9 JAG1 NM_000214.3(JAG1): c.1205dup (p.Gln403Thrfs) duplication Pathogenic rs35615084 GRCh38 Chromosome 20, 10650276: 10650276
10 JAG1 NM_000214.3(JAG1): c.1205dup (p.Gln403Thrfs) duplication Pathogenic rs35615084 GRCh37 Chromosome 20, 10630924: 10630924
11 JAG1 NM_000214.2(JAG1): c.1156G> A (p.Gly386Arg) single nucleotide variant Likely pathogenic rs863223650 GRCh37 Chromosome 20, 10630973: 10630973
12 JAG1 NM_000214.2(JAG1): c.1156G> A (p.Gly386Arg) single nucleotide variant Likely pathogenic rs863223650 GRCh38 Chromosome 20, 10650325: 10650325
13 JAG1 NM_000214.3(JAG1): c.909T> C (p.His303=) single nucleotide variant Likely benign rs139574260 GRCh38 Chromosome 20, 10652228: 10652228
14 JAG1 NM_000214.3(JAG1): c.909T> C (p.His303=) single nucleotide variant Likely benign rs139574260 GRCh37 Chromosome 20, 10632876: 10632876
15 JAG1 NM_000214.3(JAG1): c.440-15T> C single nucleotide variant Benign rs2273060 GRCh38 Chromosome 20, 10658737: 10658737
16 JAG1 NM_000214.3(JAG1): c.440-15T> C single nucleotide variant Benign rs2273060 GRCh37 Chromosome 20, 10639385: 10639385
17 JAG1 NM_000214.3(JAG1): c.1485_1486del (p.Cys496Phefs) deletion Pathogenic rs876660981 GRCh38 Chromosome 20, 10648632: 10648633
18 JAG1 NM_000214.3(JAG1): c.1485_1486del (p.Cys496Phefs) deletion Pathogenic rs876660981 GRCh37 Chromosome 20, 10629280: 10629281
19 JAG1 NM_000214.3(JAG1): c.2418C> A (p.Cys806Ter) single nucleotide variant Pathogenic rs533306015 GRCh37 Chromosome 20, 10624466: 10624466
20 JAG1 NM_000214.3(JAG1): c.2418C> A (p.Cys806Ter) single nucleotide variant Pathogenic rs533306015 GRCh38 Chromosome 20, 10643818: 10643818
21 JAG1 NM_000214.3(JAG1): c.2666G> A (p.Arg889Gln) single nucleotide variant Uncertain significance rs149419694 GRCh37 Chromosome 20, 10622447: 10622447
22 JAG1 NM_000214.3(JAG1): c.2666G> A (p.Arg889Gln) single nucleotide variant Uncertain significance rs149419694 GRCh38 Chromosome 20, 10641799: 10641799
23 JAG1 NM_000214.3(JAG1): c.1578C> T (p.Ile526=) single nucleotide variant Likely benign rs1801139 GRCh37 Chromosome 20, 10628750: 10628750
24 JAG1 NM_000214.3(JAG1): c.1578C> T (p.Ile526=) single nucleotide variant Likely benign rs1801139 GRCh38 Chromosome 20, 10648102: 10648102
25 JAG1 NM_000214.3(JAG1): c.1349-11T> G single nucleotide variant Benign/Likely benign rs80338240 GRCh37 Chromosome 20, 10629766: 10629766
26 JAG1 NM_000214.3(JAG1): c.1349-11T> G single nucleotide variant Benign/Likely benign rs80338240 GRCh38 Chromosome 20, 10649118: 10649118
27 JAG1 NM_000214.3(JAG1): c.294C> T (p.Ser98=) single nucleotide variant Benign/Likely benign rs79338570 GRCh38 Chromosome 20, 10672794: 10672794
28 JAG1 NM_000214.3(JAG1): c.294C> T (p.Ser98=) single nucleotide variant Benign/Likely benign rs79338570 GRCh37 Chromosome 20, 10653442: 10653442
29 JAG1 NM_000214.3(JAG1): c.2778C> T (p.Phe926=) single nucleotide variant Conflicting interpretations of pathogenicity rs147793030 GRCh37 Chromosome 20, 10622246: 10622246
30 JAG1 NM_000214.3(JAG1): c.2778C> T (p.Phe926=) single nucleotide variant Conflicting interpretations of pathogenicity rs147793030 GRCh38 Chromosome 20, 10641598: 10641598
31 JAG1 NM_000214.3(JAG1): c.814G> A (p.Val272Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs148990028 GRCh38 Chromosome 20, 10652540: 10652540
32 JAG1 NM_000214.3(JAG1): c.814G> A (p.Val272Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs148990028 GRCh37 Chromosome 20, 10633188: 10633188
33 JAG1 NM_000214.2(JAG1): c.2096_2100delGAAAG (p.Gly699Aspfs) deletion Pathogenic rs886039393 GRCh37 Chromosome 20, 10626017: 10626021
34 JAG1 NM_000214.2(JAG1): c.2096_2100delGAAAG (p.Gly699Aspfs) deletion Pathogenic rs886039393 GRCh38 Chromosome 20, 10645369: 10645373
35 JAG1 NM_000214.2(JAG1): c.1056_1057insACAACAGAGGCAGCTGTAAG (p.Glu353Thrfs) insertion Pathogenic rs886043451 GRCh37 Chromosome 20, 10632292: 10632293
36 JAG1 NM_000214.2(JAG1): c.1056_1057insACAACAGAGGCAGCTGTAAG (p.Glu353Thrfs) insertion Pathogenic rs886043451 GRCh38 Chromosome 20, 10651644: 10651645
37 JAG1 NM_000214.3(JAG1): c.1920C> T (p.Asn640=) single nucleotide variant Conflicting interpretations of pathogenicity rs372121353 GRCh37 Chromosome 20, 10626698: 10626698
38 JAG1 NM_000214.3(JAG1): c.1920C> T (p.Asn640=) single nucleotide variant Conflicting interpretations of pathogenicity rs372121353 GRCh38 Chromosome 20, 10646050: 10646050
39 JAG1 NM_000214.3(JAG1): c.841C> T (p.Gln281Ter) single nucleotide variant Pathogenic rs886043603 GRCh37 Chromosome 20, 10633161: 10633161
40 JAG1 NM_000214.3(JAG1): c.841C> T (p.Gln281Ter) single nucleotide variant Pathogenic rs886043603 GRCh38 Chromosome 20, 10652513: 10652513
41 JAG1 NM_000214.2(JAG1): c.2270dupG (p.Thr758Hisfs) duplication Pathogenic rs886043605 GRCh37 Chromosome 20, 10625585: 10625585
42 JAG1 NM_000214.2(JAG1): c.2270dupG (p.Thr758Hisfs) duplication Pathogenic rs886043605 GRCh38 Chromosome 20, 10644937: 10644937
43 JAG1 NM_000214.3(JAG1): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs886043606 GRCh37 Chromosome 20, 10644611: 10644611
44 JAG1 NM_000214.3(JAG1): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs886043606 GRCh38 Chromosome 20, 10663963: 10663963
45 JAG1 NM_000214.3(JAG1): c.3329A> C (p.Asn1110Thr) single nucleotide variant Uncertain significance rs150811951 GRCh37 Chromosome 20, 10620474: 10620474
46 JAG1 NM_000214.3(JAG1): c.3329A> C (p.Asn1110Thr) single nucleotide variant Uncertain significance rs150811951 GRCh38 Chromosome 20, 10639826: 10639826
47 JAG1 NM_000214.3(JAG1): c.2113+5G> A single nucleotide variant Uncertain significance rs886044704 GRCh37 Chromosome 20, 10625999: 10625999
48 JAG1 NM_000214.3(JAG1): c.-73G> C single nucleotide variant Uncertain significance rs886056514 GRCh38 Chromosome 20, 10673603: 10673603
49 JAG1 NM_000214.3(JAG1): c.-73G> C single nucleotide variant Uncertain significance rs886056514 GRCh37 Chromosome 20, 10654251: 10654251
50 JAG1 NM_000214.2(JAG1): c.-296_-294delAAG deletion Likely benign rs147400796 GRCh38 Chromosome 20, 10673824: 10673826

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:

38
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 JAG1 NOTCH1 NOTCH2 RBPJ
2
Show member pathways
12.6 JAG1 NOTCH1 NOTCH2 RBPJ
3
Show member pathways
12.27 JAG1 NOTCH1 NOTCH2 RBPJ
4
Show member pathways
12.24 JAG1 NOTCH1 NOTCH2 RBPJ
5
Show member pathways
11.95 JAG1 NOTCH1 RBPJ
6 11.84 NOTCH1 NOTCH2 RBPJ
7 11.82 JAG1 NOTCH1 NOTCH2 RBPJ
8
Show member pathways
11.77 NOTCH1 NOTCH2 RBPJ
9 11.64 NOTCH1 NOTCH2 RBPJ
10 11.49 JAG1 NOTCH1 NOTCH2
11
Show member pathways
11.41 JAG1 NOTCH1 NOTCH2 RBPJ
12 11.32 MESP2 NOTCH1
13 11.27 NOTCH1 RBPJ
14 11.24 NOTCH1 RBPJ
15 11.16 JAG1 NOTCH1 RBPJ
16 10.88 NOTCH1 NOTCH2 RBPJ
17 10.79 JAG1 NOTCH1
18 10.75 JAG1 NOTCH1
19 10.52 MESP2 NOTCH1
20 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 apical plasma membrane GO:0016324 9.26 ABCB4 ATP8B1 JAG1 NOTCH1
2 high-density lipoprotein particle GO:0034364 9.16 APOA1 LCAT
3 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 all 50)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.87 JAG1 NOTCH1 RBPJ
2 regulation of cell proliferation GO:0042127 9.85 JAG1 NOTCH1 RBPJ
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.85 NOTCH1 NOTCH2 RBPJ
4 lipid transport GO:0006869 9.81 ABCB4 APOA1 ATP8B1
5 keratinocyte differentiation GO:0030216 9.76 JAG1 NOTCH1 RBPJ
6 hemopoiesis GO:0030097 9.75 JAG1 NOTCH2 RBPJ
7 negative regulation of cell differentiation GO:0045596 9.72 JAG1 NOTCH1 RBPJ
8 negative regulation of cold-induced thermogenesis GO:0120163 9.71 NOTCH1 RBPJ
9 animal organ regeneration GO:0031100 9.71 APOA1 NOTCH1
10 phospholipid transport GO:0015914 9.7 APOA1 ATP8B1
11 ventricular septum morphogenesis GO:0060412 9.7 NOTCH1 RBPJ
12 epithelial to mesenchymal transition GO:0001837 9.7 NOTCH1 RBPJ
13 positive regulation of cardiac muscle cell proliferation GO:0060045 9.7 NOTCH1 RBPJ
14 positive regulation of BMP signaling pathway GO:0030513 9.69 NOTCH1 RBPJ
15 blood vessel remodeling GO:0001974 9.69 JAG1 RBPJ
16 phosphatidylcholine biosynthetic process GO:0006656 9.68 APOA1 LCAT
17 cholesterol transport GO:0030301 9.68 APOA1 LCAT
18 phospholipid translocation GO:0045332 9.68 ABCB4 ATP8B1
19 aortic valve morphogenesis GO:0003180 9.67 JAG1 NOTCH1
20 positive regulation of Notch signaling pathway GO:0045747 9.67 JAG1 NOTCH1 RBPJ
21 negative regulation of ossification GO:0030279 9.66 NOTCH1 RBPJ
22 positive regulation of Ras protein signal transduction GO:0046579 9.66 NOTCH1 NOTCH2
23 cell fate determination GO:0001709 9.65 JAG1 NOTCH2
24 positive regulation of transcription of Notch receptor target GO:0007221 9.65 NOTCH1 RBPJ
25 reverse cholesterol transport GO:0043691 9.65 APOA1 LCAT
26 high-density lipoprotein particle remodeling GO:0034375 9.64 APOA1 LCAT
27 ventricular trabecula myocardium morphogenesis GO:0003222 9.63 NOTCH1 RBPJ
28 negative regulation of stem cell differentiation GO:2000737 9.63 JAG1 NOTCH1
29 cardiac septum morphogenesis GO:0060411 9.62 JAG1 NOTCH1
30 inflammatory response to antigenic stimulus GO:0002437 9.62 NOTCH1 RBPJ
31 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.61 NOTCH1 RBPJ
32 response to muramyl dipeptide GO:0032495 9.61 JAG1 NOTCH1
33 cardiac left ventricle morphogenesis GO:0003214 9.6 NOTCH1 RBPJ
34 very-low-density lipoprotein particle remodeling GO:0034372 9.59 APOA1 LCAT
35 interleukin-4 secretion GO:0072602 9.57 NOTCH1 RBPJ
36 lipoprotein biosynthetic process GO:0042158 9.56 APOA1 LCAT
37 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.54 NOTCH1 RBPJ
38 endocardium development GO:0003157 9.52 NOTCH1 RBPJ
39 regulation of developmental process GO:0050793 9.51 NOTCH1 NOTCH2
40 auditory receptor cell fate commitment GO:0009912 9.48 NOTCH1 RBPJ
41 distal tubule development GO:0072017 9.46 JAG1 NOTCH1
42 negative regulation of growth rate GO:0045967 9.43 NOTCH1 NOTCH2
43 neuronal stem cell population maintenance GO:0097150 9.43 JAG1 NOTCH1 SRRT
44 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.4 NOTCH1 RBPJ
45 drug transmembrane transport GO:0006855 9.37 ATP8B1
46 endocardium morphogenesis GO:0003160 9.37 NOTCH1 RBPJ
47 Notch signaling pathway GO:0007219 9.35 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ
48 pulmonary valve morphogenesis GO:0003184 9.33 JAG1 NOTCH1 NOTCH2
49 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.32 JAG1 NOTCH1
50 Notch signaling involved in heart development GO:0061314 8.92 JAG1 NOTCH1 NOTCH2 RBPJ

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 APOA1 ATP8B1
2 Notch binding GO:0005112 8.96 JAG1 NOTCH1
3 phospholipid transporter activity GO:0005548 8.62 ABCB4 APOA1

Sources for Alagille Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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