MCID: ALG028
MIFTS: 63

Alagille Syndrome 1

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

Aliases & Classifications for Alagille Syndrome 1

MalaCards integrated aliases for Alagille Syndrome 1:

Name: Alagille Syndrome 1 54 71 29 69
Alagille Syndrome 38 12 72 23 50 24 25 56 71 13 52 42 14
Arteriohepatic Dysplasia 12 23 50 24 25 56 29
Alagille-Watson Syndrome 12 50 25 56 71
Cholestasis with Peripheral Pulmonary Stenosis 50 25 71
Syndromic Bile Duct Paucity 23 24 56
Hepatic Ductular Hypoplasia 50 25 69
Hepatofacioneurocardiovertebral Syndrome 50 25
Paucity of Interlobular Bile Ducts 50 25
Cardiovertebral Syndrome 50 25
Watson-Miller Syndrome 50 25
Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation 56
Alagille-Watson Syndrome Due to a Jag1 Point Mutation 56
Arteriohepatic Dysplasia Due to a Jag1 Point Mutation 56
Syndromic Bile Duct Paucity Due to Monosomy 20p12 56
Alagille-Watson Syndrome Due to Monosomy 20p12 56
Arteriohepatic Dysplasia Due to Monosomy 20p12 56
Alagille Syndrome Due to a Jag1 Point Mutation 56
Alagille Syndrome Due to 20p12 Microdeletion 56
Alagille Syndrome Due to Monosomy 20p12 56
Alagille Syndrome Due to Del(20)(p12) 56
Hypoplasia Hepatic Ductular 50
Watson Alagille Syndrome 50
Alagille's Syndrome 25
Algs1 71
Algs 71
Aws 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant

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


HPO:

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


GeneReviews:

23
Penetrance Algs demonstrates highly variable expressivity with clinical features ranging from subclinical to severe...

Classifications:



Summaries for Alagille Syndrome 1

NIH Rare Diseases : 50 alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. it is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. symptoms, including jaundice, pale, loose stools, and poor growth, typically develop in the first 2 years of life. symptoms and symptom severity varies, even among people in the same family. alagille syndrome is caused by mutations in the jag1 and notch2 genes. it is inherited in an autosomal dominant pattern. treatment is symptomatic and supportive. in severe cases, liver transplant may be necessary. last updated: 11/1/2012

MalaCards based summary : Alagille Syndrome 1, also known as alagille syndrome, is related to alagille syndrome 2 and lambert syndrome, and has symptoms including failure to thrive, strabismus and hepatomegaly. An important gene associated with Alagille Syndrome 1 is JAG1 (Jagged 1), and among its related pathways/superpathways are Signaling by NOTCH1 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 Decreased shRNA abundance (Z-score < -2) and growth/size/body region

UniProtKB/Swiss-Prot : 71 Alagille syndrome 1: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.

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

OMIM : 54
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)

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.

Wikipedia : 72 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 Jag1-Related Alagille Syndrome
Notch2-Related Alagille Syndrome

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 alagille syndrome 2 12.2
2 lambert syndrome 11.2
3 jag1-related alagille syndrome 10.9
4 glycogen storage disease ixc 10.8
5 anterior horn cell disease 10.5 NOTCH1 NOTCH2
6 myofibromatosis, infantile 2 10.5 JAG1 NOTCH1
7 non-dystrophic myotonic disorders 10.4 JAG1 NOTCH1 NOTCH2
8 tfr2-related hereditary hemochromatosis 10.4 DLL3 MESP2
9 secondary lacrimal atrophy 10.4 JAG1 NOTCH1
10 opiate dependence 10.3 JAG1 NOTCH1
11 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 10.2 NOTCH1 RBPJ
12 alport syndrome and thin basement membrane nephropathy 10.2 ABCB11 ATP8B1
13 aplasia cutis congenita recessive 10.2 NOTCH1 RBPJ
14 trophoblastic neoplasm 10.2 HEY2 JAG1 NOTCH1
15 cholestasis, intrahepatic, of pregnancy, 1 10.2 ABCB11 ATP8B1
16 prune belly syndrome 10.1
17 exocrine pancreatic insufficiency 10.1
18 cholestasis 10.1
19 pancreatitis 10.1
20 hypothyroidism, congenital nongoitrous, 5 10.0 HEY2 JAG1 NOTCH1
21 anuria 10.0 NOTCH1 NOTCH2
22 cholestasis, benign recurrent intrahepatic, 2 10.0 ABCB11 ABCB4 ATP8B1
23 raine syndrome 9.9 DLL3 MESP2 NOTCH1 NOTCH2
24 orbital cancer 9.9 ABCB11 ABCB4 ATP8B1
25 hemorrhoid 9.9 ABCB11 ABCB4 ATP8B1
26 cholestasis, intrahepatic, of pregnancy, 3 9.7 ABCB11 ABCB4 ATP8B1 JAG1
27 cholestasis, benign recurrent intrahepatic 9.7 ABCB11 ABCB4 ATP8B1 JAG1
28 chronic rheumatic pericarditis 9.7 ABCB11 ABCB4 ATP8B1 JAG1
29 eclampsia 9.7 ABCB11 ABCB4 ATP8B1 JAG1
30 hajdu-cheney syndrome 9.7 DLL3 JAG1 NOTCH1 NOTCH2 RBPJ
31 bardet-biedl syndrome 6 5.4 ABCB11 ABCB4 ATP8B1 DLL3 HEY2 JAG1

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



Diseases related to Alagille Syndrome 1

Symptoms & Phenotypes for Alagille Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Head And Neck- Eyes:
strabismus
myopia
cataracts
hypertelorism
microcornea
more
Head And Neck- Nose:
depressed nasal bridge
long nose with bulbous tip

Skeletal- Spine:
hemivertebrae
vertebral anomalies
butterfly vertebral arch

Cardiovascular- Vascular:
coarctation of aorta
cerebrovascular accidents
moyamoya syndrome

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

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

Abdomen- Pancreas:
pancreatic insufficiency

Chest- Ribs Sternum Clavicles And Scapulae:
rib anomalies

Skeletal- Limbs:
short ulnae

Laboratory- Abnormalities:
hypertriglyceridemia
hypercholesterolemia
elevated transaminases
increased conjugated bilirubin

Head And Neck- Ears:
large ears

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

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

Genitourinary- Kidneys:
vesicoureteral reflux
small kidneys
renal tubular acidosis
renal dysplasia
echogenic kidneys
more
Neoplasia:
hepatocellular carcinoma
papillary thyroid carcinoma

Skeletal- Hands:
short distal phalanges

Neurologic- Peripheral Nervous System:
absent deep tendon reflexes

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

Abdomen- Biliary Tract:
extrahepatic duct involvement


Clinical features from OMIM:

118450

Human phenotypes related to Alagille Syndrome 1:

56 32 (show top 50) (show all 76)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
5 coarse facial features 56 32 frequent (33%) Frequent (79-30%) HP:0000280
6 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
7 round face 56 32 frequent (33%) Frequent (79-30%) HP:0000311
8 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
9 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
10 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
11 short philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000322
12 keratoconus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000563
13 ventricular septal defect 56 32 hallmark (90%) Very frequent (99-80%) HP:0001629
14 intellectual disability, mild 56 32 occasional (7.5%) Occasional (29-5%) HP:0001256
15 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
16 spina bifida occulta 56 32 frequent (33%) Frequent (79-30%) HP:0003298
17 pointed chin 56 32 frequent (33%) Frequent (79-30%) HP:0000307
18 long nose 56 32 frequent (33%) Frequent (79-30%) HP:0003189
19 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
20 brachycephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000248
21 downslanted palpebral fissures 56 32 occasional (7.5%) Occasional (29-5%) HP:0000494
22 flat face 56 32 occasional (7.5%) Occasional (29-5%) HP:0012368
23 nephrotic syndrome 56 32 occasional (7.5%) Occasional (29-5%) HP:0000100
24 cholestasis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001396
25 delayed skeletal maturation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002750
26 peripheral pulmonary artery stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004969
27 corneal dystrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001131
28 butterfly vertebral arch 56 32 frequent (33%) Frequent (79-30%) HP:0004617
29 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
30 protruding ear 56 32 frequent (33%) Frequent (79-30%) HP:0000411
31 deeply set eye 56 32 occasional (7.5%) Occasional (29-5%) HP:0000490
32 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
33 specific learning disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001328
34 abnormality of the pupil 56 32 occasional (7.5%) Occasional (29-5%) HP:0000615
35 abnormality of the ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000772
36 vertebral segmentation defect 56 32 frequent (33%) Frequent (79-30%) HP:0003422
37 short distal phalanx of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0009882
38 abnormality of the ureter 56 32 occasional (7.5%) Occasional (29-5%) HP:0000069
39 hypoplasia of the ulna 56 32 occasional (7.5%) Occasional (29-5%) HP:0003022
40 reduced number of intrahepatic bile ducts 56 32 hallmark (90%) Very frequent (99-80%) HP:0006571
41 hypertriglyceridemia 32 HP:0002155
42 hypercholesterolemia 32 HP:0003124
43 myopia 32 HP:0000545
44 depressed nasal bridge 32 HP:0005280
45 atrial septal defect 32 occasional (7.5%) HP:0001631
46 microcornea 32 HP:0000482
47 hemivertebrae 32 HP:0002937
48 broad forehead 32 HP:0000337
49 cataract 32 HP:0000518
50 areflexia 32 HP:0001284

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.77 PLCB4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.77 NOTCH1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.77 ABCB11
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.77 PLCB4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.77 ABCB11
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.77 PLCB4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.77 PLCB4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.77 NOTCH1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.77 PLCB4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.77 NOTCH1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.77 ABCB11 NOTCH1 PLCB4
12 Decreased vaccinia virus (VACV-LREV ) gene expression GR00351-A-2 8.62 ATP8B1 JAG1

MGI Mouse Phenotypes related to Alagille Syndrome 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.14 ABCB11 ABCB4 ATP8B1 DLL3 HEY2 JAG1
2 cardiovascular system MP:0005385 10.08 ABCB4 HEY2 JAG1 LCAT MESP2 NOTCH1
3 embryo MP:0005380 10.06 DLL3 HEY2 JAG1 MESP2 NOTCH1 NOTCH2
4 mortality/aging MP:0010768 10.06 NOTCH1 NOTCH2 PLCB4 RBPJ SRRT ABCB11
5 endocrine/exocrine gland MP:0005379 9.98 ABCB4 JAG1 LCAT NOTCH1 NOTCH2 RBPJ
6 liver/biliary system MP:0005370 9.97 ABCB11 ABCB4 ATP8B1 HEY2 JAG1 LCAT
7 muscle MP:0005369 9.86 NOTCH2 PLCB4 RBPJ DLL3 HEY2 JAG1
8 nervous system MP:0003631 9.81 RBPJ ATP8B1 DLL3 HEY2 JAG1 MESP2
9 skeleton MP:0005390 9.56 ABCB4 DLL3 JAG1 MESP2 NOTCH1 NOTCH2
10 vision/eye MP:0005391 9.17 JAG1 LCAT NOTCH1 NOTCH2 PLCB4 ABCB11

Drugs & Therapeutics for Alagille Syndrome 1

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

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts Phase 2
2 Liver Extracts Phase 2
3 Anticholesteremic Agents Phase 1
4 Antimetabolites Phase 1
5 Cholestyramine Resin Phase 1
6 Hypolipidemic Agents Phase 1
7 Lipid Regulating Agents Phase 1
8 Cola Nutraceutical Phase 1
9
Pancrelipase Approved 53608-75-6
10 Alpha 1-Antitrypsin
11 Protein C Inhibitor
12 pancreatin
13 Hematinics
14 HIV Protease Inhibitors
15
protease inhibitors
16 Serine Proteinase Inhibitors
17 Trypsin Inhibitors
18 serine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 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
2 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
3 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
4 Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Completed NCT00001642
5 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
6 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
7 FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Enrolling by invitation 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:

id Genetic test Affiliating Genes
1 Alagille Syndrome 1 29
2 Arteriohepatic Dysplasia 29
3 Alagille Syndrome 24 NOTCH2 JAG1

Anatomical Context for Alagille Syndrome 1

MalaCards organs/tissues related to Alagille Syndrome 1:

39
Liver, Heart, Kidney, Eye, Skin, 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:
id 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

Variations for Alagille Syndrome 1

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

71 (show top 50) (show all 51)
id 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
4 JAG1 p.Pro129Arg VAR_013189
5 JAG1 p.Ile152Thr VAR_013190
6 JAG1 p.Pro163Leu VAR_013191
7 JAG1 p.Arg184Cys VAR_013192 rs121918350
8 JAG1 p.Arg184Gly VAR_013193
9 JAG1 p.Arg184His VAR_013194 rs121918351
10 JAG1 p.Arg184Leu VAR_013195
11 JAG1 p.Cys187Ser VAR_013196
12 JAG1 p.Cys220Phe VAR_013197
13 JAG1 p.Cys229Gly VAR_013198
14 JAG1 p.Cys229Tyr VAR_013199
15 JAG1 p.Cys284Phe VAR_013201
16 JAG1 p.Trp288Cys VAR_013202
17 JAG1 p.Gly386Arg VAR_013203 rs863223650
18 JAG1 p.Cys438Phe VAR_013204
19 JAG1 p.Cys731Ser VAR_013205
20 JAG1 p.Cys740Arg VAR_013206
21 JAG1 p.Cys753Arg VAR_013207
22 JAG1 p.Ala31Val VAR_026297
23 JAG1 p.Gly33Asp VAR_026298
24 JAG1 p.Gly33Ser VAR_026299 rs876661123
25 JAG1 p.Gly33Val VAR_026300
26 JAG1 p.Ile39Ser VAR_026301
27 JAG1 p.Leu40Pro VAR_026302
28 JAG1 p.Phe75Ser VAR_026306
29 JAG1 p.Cys78Ser VAR_026307
30 JAG1 p.Cys92Arg VAR_026308
31 JAG1 p.Cys92Tyr VAR_026309
32 JAG1 p.Ile120Asn VAR_026310
33 JAG1 p.Pro123Ser VAR_026311
34 JAG1 p.Ala155Pro VAR_026312
35 JAG1 p.Pro163Arg VAR_026313
36 JAG1 p.Tyr181Asn VAR_026314
37 JAG1 p.Cys187Tyr VAR_026315
38 JAG1 p.Trp224Cys VAR_026317
39 JAG1 p.Arg252Gly VAR_026319
40 JAG1 p.Gly256Ser VAR_026320
41 JAG1 p.Pro269Leu VAR_026321 rs797044956
42 JAG1 p.Cys271Arg VAR_026322
43 JAG1 p.Asn504Ser VAR_026323 rs527236046
44 JAG1 p.Cys693Tyr VAR_026325 rs566563238
45 JAG1 p.Cys714Tyr VAR_026326
46 JAG1 p.Arg889Gln VAR_026329 rs149419694
47 JAG1 p.Cys902Ser VAR_026330 rs876661122
48 JAG1 p.Cys911Tyr VAR_026332
49 JAG1 p.Ser913Arg VAR_026333
50 JAG1 p.Arg937Gln VAR_026335 rs145895196

ClinVar genetic disease variations for Alagille Syndrome 1:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1 JAG1 JAG1, 5-BP DEL deletion Pathogenic
2 JAG1 JAG1, 2-BP DEL, 3098GT deletion Pathogenic
3 JAG1 JAG1, IVS23DS, G-C, +1 single nucleotide variant Pathogenic
4 JAG1 JAG1, 2-BP DEL, 1104AG deletion Pathogenic
5 JAG1 JAG1, 1-BP DEL, 2066C deletion Pathogenic
6 JAG1 NM_000214.2(JAG1): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121918350 GRCh37 Chromosome 20, 10639260: 10639260
7 JAG1 NM_000214.2(JAG1): c.551G> A (p.Arg184His) single nucleotide variant Pathogenic/Likely pathogenic rs121918351 GRCh37 Chromosome 20, 10639259: 10639259
8 JAG1 JAG1, 1-BP INS, 1618C insertion Pathogenic
9 JAG1 JAG1, 1-BP INS, 684G insertion Pathogenic
10 JAG1 NM_000214.2(JAG1): c.110T> C (p.Leu37Ser) single nucleotide variant Pathogenic rs121918352 GRCh37 Chromosome 20, 10653626: 10653626
11 JAG1 JAG1, 2-BP DEL, 1485CT deletion Pathogenic
12 JAG1 JAG1, 1329, T-G, +2 single nucleotide variant Pathogenic
13 JAG1 NM_000214.2(JAG1): c.2122_2125delCAGT (p.Gln708Valfs) deletion Pathogenic rs727504412 GRCh37 Chromosome 20, 10625893: 10625896
14 JAG1 NM_000214.2(JAG1): c.1326G> A (p.Trp442Ter) single nucleotide variant Pathogenic rs794726974 GRCh37 Chromosome 20, 10630192: 10630192
15 JAG1 NM_000214.2(JAG1): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs794727953 GRCh37 Chromosome 20, 10630922: 10630922
16 JAG1 NM_000214.2(JAG1): c.2418C> A (p.Cys806Ter) single nucleotide variant Pathogenic rs533306015 GRCh37 Chromosome 20, 10624466: 10624466
17 JAG1 NM_000214.2(JAG1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs876660980 GRCh37 Chromosome 20, 10637098: 10637098
18 JAG1 NM_000214.2(JAG1): c.2895dupT (p.Asn966Terfs) duplication Pathogenic rs878853752 GRCh38 Chromosome 20, 10641481: 10641481
19 JAG1 NM_000214.2(JAG1): c.2342dupA (p.Asn782Glufs) duplication Pathogenic rs886039887 GRCh37 Chromosome 20, 10625513: 10625513
20 JAG1 NM_000214.2(JAG1): c.2728dupG (p.Glu910Glyfs) duplication Pathogenic rs886042155 GRCh37 Chromosome 20, 10622296: 10622296
21 JAG1 NM_000214.2(JAG1): c.173_176delCCCG (p.Ala58Glyfs) deletion Pathogenic rs886043130 GRCh37 Chromosome 20, 10653560: 10653563
22 JAG1 NM_000214.2(JAG1): c.1056_1057insACAACAGAGGCAGCTGTAAG (p.Glu353Thrfs) insertion Pathogenic rs886043451 GRCh37 Chromosome 20, 10632292: 10632293
23 JAG1 NM_000214.2(JAG1): c.841C> T (p.Gln281Ter) single nucleotide variant Pathogenic rs886043603 GRCh37 Chromosome 20, 10633161: 10633161
24 JAG1 NM_000214.2(JAG1): c.2270dupG (p.Thr758Hisfs) duplication Pathogenic rs886043605 GRCh37 Chromosome 20, 10625585: 10625585
25 JAG1 NM_000214.2(JAG1): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs886043606 GRCh37 Chromosome 20, 10644611: 10644611
26 JAG1 NM_000214.2(JAG1): c.2706C> A (p.Cys902Ter) single nucleotide variant Pathogenic rs886043869 GRCh37 Chromosome 20, 10622318: 10622318
27 JAG1 NM_000214.2(JAG1): c.2310C> A (p.Cys770Ter) single nucleotide variant Pathogenic rs886043904 GRCh37 Chromosome 20, 10625545: 10625545
28 JAG1 NM_000214.2(JAG1): c.390dupG (p.Ser131Valfs) duplication Pathogenic rs886044111 GRCh37 Chromosome 20, 10644660: 10644660
29 JAG1 NM_000214.2(JAG1): c.2122C> T (p.Gln708Ter) single nucleotide variant Pathogenic rs886044136 GRCh37 Chromosome 20, 10625896: 10625896
30 JAG1 NM_000214.2(JAG1): c.1395+3A> G single nucleotide variant Pathogenic rs886044220 GRCh37 Chromosome 20, 10629706: 10629706
31 JAG1 NM_000214.2(JAG1): c.1720+1delG deletion Pathogenic rs886044349 GRCh38 Chromosome 20, 10647959: 10647959
32 JAG1 indel Pathogenic GRCh37 Chromosome 20, 10623156: 10623178
33 JAG1 NM_000214.2(JAG1): c.1218_1219insGA (p.Lys407Glufs) insertion Pathogenic rs886044604 GRCh37 Chromosome 20, 10630910: 10630911
34 JAG1 NM_000214.2(JAG1): c.2840delA (p.Lys947Serfs) deletion Pathogenic rs1060501349 GRCh38 Chromosome 20, 10641536: 10641536
35 JAG1 NM_000214.2(JAG1): c.3006C> A (p.Cys1002Ter) single nucleotide variant Pathogenic rs372984801 GRCh37 Chromosome 20, 10621803: 10621803
36 JAG1 NM_000214.2(JAG1): c.2844C> A (p.Cys948Ter) single nucleotide variant Pathogenic rs1060501352 GRCh38 Chromosome 20, 10641532: 10641532
37 JAG1 NM_000214.2(JAG1): c.1353dupT (p.Asn452Terfs) duplication Pathogenic GRCh38 Chromosome 20, 10649103: 10649103
38 JAG1 NM_000214.2(JAG1): c.2688G> A (p.Trp896Ter) single nucleotide variant Pathogenic rs1060501350 GRCh38 Chromosome 20, 10641688: 10641688
39 JAG1 NM_000214.2(JAG1): c.543T> A (p.Tyr181Ter) single nucleotide variant Pathogenic rs1060501351 GRCh38 Chromosome 20, 10658619: 10658619
40 JAG1 NM_000214.2(JAG1): c.2966dupT (p.Leu989Phefs) duplication Pathogenic GRCh38 Chromosome 20, 10641195: 10641195

Copy number variations for Alagille Syndrome 1 from CNVD:

7
id 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 GeneCards Suite gene sharing:

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 HEY2 JAG1 NOTCH1 NOTCH2 RBPJ
2 12.48 HEY2 JAG1 NOTCH1 NOTCH2 RBPJ
3
Show member pathways
12.35 DLL3 HEY2 JAG1 NOTCH1 NOTCH2
4
Show member pathways
12.34 DLL3 JAG1 NOTCH1 NOTCH2 RBPJ
5
Show member pathways
12.17 DLL3 HEY2 JAG1 NOTCH1 NOTCH2 RBPJ
6
Show member pathways
11.99 HEY2 JAG1 NOTCH1 RBPJ
7 11.92 NOTCH1 NOTCH2 RBPJ
8 11.91 DLL3 JAG1 NOTCH1 NOTCH2 RBPJ
9
Show member pathways
11.89 JAG1 NOTCH1 NOTCH2 RBPJ
10
Show member pathways
11.85 NOTCH1 NOTCH2 RBPJ
11 11.8 NOTCH1 NOTCH2 PLCB4
12 11.64 JAG1 NOTCH1 NOTCH2
13 11.36 DLL3 HEY2 NOTCH1 NOTCH2 RBPJ
14 11.35 HEY2 NOTCH1 RBPJ
15 11.33 JAG1 NOTCH1 RBPJ
16 11.09 NOTCH1 NOTCH2 RBPJ
17 10.86 ABCB11 ABCB4
18 10.8 JAG1 NOTCH1
19 10.75 DLL3 JAG1 NOTCH1
20 10.58 MESP2 NOTCH1
21 10.45 DLL3 JAG1 NOTCH1 NOTCH2 RBPJ

GO Terms for Alagille Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.56 ABCB4 ATP8B1 JAG1 NOTCH1
2 apical part of cell GO:0045177 9.33 ABCB11 ABCB4 JAG1
3 intercellular canaliculus GO:0046581 8.96 ABCB11 ABCB4
4 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 NOTCH1 RBPJ

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

(show all 49)
id Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.87 NOTCH1 NOTCH2 RBPJ
2 hemopoiesis GO:0030097 9.82 JAG1 NOTCH2 RBPJ
3 keratinocyte differentiation GO:0030216 9.81 JAG1 NOTCH1 RBPJ
4 negative regulation of cell differentiation GO:0045596 9.8 JAG1 NOTCH1 RBPJ
5 cell fate commitment GO:0045165 9.77 HEY2 NOTCH1 RBPJ
6 somitogenesis GO:0001756 9.76 DLL3 MESP2 RBPJ
7 positive regulation of Notch signaling pathway GO:0045747 9.71 JAG1 NOTCH1
8 ventricular septum morphogenesis GO:0060412 9.7 HEY2 NOTCH1
9 blood vessel remodeling GO:0001974 9.7 JAG1 RBPJ
10 bile acid and bile salt transport GO:0015721 9.7 ABCB11 ATP8B1
11 phospholipid translocation GO:0045332 9.69 ABCB4 ATP8B1
12 drug transmembrane transport GO:0006855 9.69 ABCB4 ATP8B1
13 negative regulation of ossification GO:0030279 9.69 NOTCH1 RBPJ
14 labyrinthine layer blood vessel development GO:0060716 9.68 HEY2 RBPJ
15 negative regulation of neurogenesis GO:0050768 9.68 DLL3 NOTCH1
16 cell fate determination GO:0001709 9.68 JAG1 NOTCH2
17 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.68 NOTCH1 RBPJ
18 atrial septum morphogenesis GO:0060413 9.67 HEY2 NOTCH2
19 cardiac epithelial to mesenchymal transition GO:0060317 9.67 HEY2 NOTCH1
20 negative regulation of stem cell differentiation GO:2000737 9.67 JAG1 NOTCH1
21 cardiac right ventricle morphogenesis GO:0003215 9.66 HEY2 JAG1
22 inflammatory response to antigenic stimulus GO:0002437 9.66 NOTCH1 RBPJ
23 response to muramyl dipeptide GO:0032495 9.65 JAG1 NOTCH1
24 cardiac ventricle morphogenesis GO:0003208 9.65 HEY2 NOTCH1
25 dorsal aorta morphogenesis GO:0035912 9.63 HEY2 RBPJ
26 positive regulation of transcription of Notch receptor target GO:0007221 9.63 NOTCH1 RBPJ
27 positive regulation of cardiac muscle cell proliferation GO:0060045 9.63 HEY2 NOTCH1 RBPJ
28 regulation of auditory receptor cell differentiation GO:0045607 9.62 HEY2 NOTCH1
29 pulmonary artery morphogenesis GO:0061156 9.61 HEY2 JAG1
30 mesenchymal cell development GO:0014031 9.61 HEY2 NOTCH1
31 interleukin-4 secretion GO:0072602 9.59 NOTCH1 RBPJ
32 endocardium development GO:0003157 9.58 NOTCH1 RBPJ
33 neuronal stem cell population maintenance GO:0097150 9.58 JAG1 NOTCH1 SRRT
34 arterial endothelial cell differentiation GO:0060842 9.57 HEY2 NOTCH1
35 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.56 NOTCH1 RBPJ
36 regulation of developmental process GO:0050793 9.55 NOTCH1 NOTCH2
37 compartment pattern specification GO:0007386 9.54 DLL3 NOTCH1
38 ventricular trabecula myocardium morphogenesis GO:0003222 9.54 HEY2 NOTCH1 RBPJ
39 cardiac vascular smooth muscle cell development GO:0060948 9.52 HEY2 NOTCH1
40 distal tubule development GO:0072017 9.51 JAG1 NOTCH1
41 cardiac septum morphogenesis GO:0060411 9.5 HEY2 JAG1 NOTCH1
42 Notch signaling pathway GO:0007219 9.5 DLL3 HEY2 JAG1 MESP2 NOTCH1 NOTCH2
43 auditory receptor cell fate commitment GO:0009912 9.49 NOTCH1 RBPJ
44 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.48 NOTCH1 RBPJ
45 pulmonary valve morphogenesis GO:0003184 9.46 HEY2 JAG1 NOTCH1 NOTCH2
46 endocardium morphogenesis GO:0003160 9.43 NOTCH1 RBPJ
47 cardiac left ventricle morphogenesis GO:0003214 9.43 HEY2 NOTCH1 RBPJ
48 Notch signaling involved in heart development GO:0061314 9.02 HEY2 JAG1 NOTCH1 NOTCH2 RBPJ
49 multicellular organism development GO:0007275 10.13 DLL3 HEY2 JAG1 MESP2 NOTCH1 NOTCH2

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.35 DLL3 JAG1 NOTCH1 NOTCH2 PLCB4
2 Notch binding GO:0005112 8.8 DLL3 JAG1 NOTCH1

Sources for Alagille Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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