MCID: ALG002
MIFTS: 67

Alagille Syndrome malady

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

Aliases & Classifications for Alagille Syndrome

About this section
Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alagille Syndrome:

Name: Alagille Syndrome 49 32 10 11 68 21 45 22 23 47 12 51 67 36
Arteriohepatic Dysplasia 10 21 45 22 23 51 24
Alagille-Watson Syndrome 10 45 23 51 67
Cholestasis with Peripheral Pulmonary Stenosis 45 23 67
Syndromic Bile Duct Paucity 21 22 51
Hepatic Ductular Hypoplasia 45 23 65
Alagille Syndrome 1 67 24 65
Hepatofacioneurocardiovertebral Syndrome 45 23
Paucity of Interlobular Bile Ducts 45 23
 
Cardiovertebral Syndrome 45 23
Watson-Miller Syndrome 45 23
Hypoplasia Hepatic Ductular 45
Watson Alagille Syndrome 45
Alagille's Syndrome 23
Algs1 67
Algs 67
Aws 67

Characteristics:

Orphanet epidemiological data:

51
alagille syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Australia),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age

HPO:

61
alagille syndrome:
Onset and clinical course: incomplete penetrance, infantile onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 118450
Disease Ontology10 DOID:9245
ICD1027 Q44.7
MeSH36 D016738
NCIt42 C35139
SNOMED-CT59 31742004
Orphanet51 52
UMLS via Orphanet66 C0085280
ICD10 via Orphanet28 Q44.7
MESH via Orphanet37 D016738
UMLS65 C0085280, C2930797, C1956125

Summaries for Alagille Syndrome

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OMIM:49 Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic... (118450) more...

MalaCards based summary: Alagille Syndrome, also known as arteriohepatic dysplasia, is related to alagille syndrome 2 and jag1-related alagille syndrome, and has symptoms including biliary tract abnormality, corneal dystrophy and ventricular septal defect. An important gene associated with Alagille Syndrome is JAG1 (Jagged 1), and among its related pathways are Dorso-ventral axis formation and Notch Signaling Pathways. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are embryo and vision/eye.

Disease Ontology:10 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:45 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

UniProtKB/Swiss-Prot:67 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:23 Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.

Wikipedia:68 Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the... more...

GeneReviews summary for NBK1273

Related Diseases for Alagille Syndrome

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Diseases in the Alagille Syndrome family:

Alagille Syndrome 2 Jag1-Related Alagille Syndrome
Notch2-Related Alagille Syndrome Alagille Syndrome Due to a Jag1 Point Mutation
Alagille Syndrome Due to a Notch2 Point Mutation

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

(show top 50)    (show all 263)
idRelated DiseaseScoreTop Affiliating Genes
1alagille syndrome 212.5
2jag1-related alagille syndrome12.3
3notch2-related alagille syndrome12.3
4alagille syndrome due to 20p12 microdeletion12.3
5alagille syndrome due to a jag1 point mutation12.3
6alagille syndrome due to a notch2 point mutation12.3
7hardikar syndrome10.4
8prostatitis10.4
9cerebritis10.4
10neuronitis10.3
11loeffler endocarditis10.3EGF, MME
12amyloidosis beta2m10.3LCAT, LPA
13lung cancer10.3
14hepatitis10.3
15lymphoma10.3
16myeloma10.3
17adenocarcinoma10.3
18thyroiditis10.3
19endotheliitis10.3
20sick sinus syndrome10.3LCAT, LPA
21ptosis10.2JAG1, NOTCH2
22scurvy10.2LCAT, LPA
23prostate cancer10.2
24breast cancer10.2
25gastric cancer10.2
26artery disease10.2
27ovarian cancer10.2
28tuberculosis10.2
29encephalopathy10.2
30scleral disease10.2LCAT, LPA
31non 24 hour sleep wake disorder10.2NOTCH1, NOTCH2
32fatal post-viral neurodegenerative disorder10.1EGF, SCARB1
33mononeuritis10.1JAG1, NOTCH1
34schizophrenia10.1
35rheumatoid arthritis10.1
36gastrointestinal stromal tumor10.1
37leprosy10.1
38cystic fibrosis10.1
39multiple myeloma10.1
40arthritis10.1
41b-cell lymphomas10.1
42burns10.1
43cataract10.1
44diabetic foot ulcers10.1
45leukemia10.1
46gastric ulcer10.1
47sarcoma10.1
48esophagitis10.1
49melanoma10.1
50prostate adenocarcinoma10.1

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



Diseases related to alagille syndrome

Symptoms for Alagille Syndrome

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Symptoms by clinical synopsis from OMIM:

118450

Clinical features from OMIM:

118450

Symptoms:

 51 (show all 43)
  • corneal dystrophy
  • intrahepatic biliary tract atresia/obstruction
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • ventricular septal defect/interventricular communication
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • frontal bossing/prominent forehead
  • round face
  • coarse face
  • pointed chin
  • long/large/bulbous nose
  • prominent/bat ears
  • spina bifida occulta
  • abnormal vertebral size/shape
  • vertebral segmentation anomaly/hemivertebrae
  • telangiectasiae of the skin
  • intrauterine growth retardation
  • brachycephaly/flat occiput
  • flat face
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • deepset eyes/enophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • keratoconus/keratoglobus
  • strabismus/squint
  • short philtrum
  • anomalies of the ribs
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • terminal/third phalangeal bone of fingers hypoplasia
  • clinodactyly of fifth finger
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • atrial septal defect/interauricular communication
  • chronic arterial hypertension
  • agenesis/hypoplasia/aplasia of kidneys
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • nephrotic syndrome
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • delayed bone age
  • total/partial trisomy/duplication

HPO human phenotypes related to Alagille Syndrome:

(show all 84)
id Description Frequency HPO Source Accession
1 biliary tract abnormality hallmark (90%) HP:0001080
2 corneal dystrophy hallmark (90%) HP:0001131
3 ventricular septal defect hallmark (90%) HP:0001629
4 hepatomegaly hallmark (90%) HP:0002240
5 coarse facial features typical (50%) HP:0000280
6 pointed chin typical (50%) HP:0000307
7 round face typical (50%) HP:0000311
8 abnormality of the pinna typical (50%) HP:0000377
9 intrauterine growth retardation typical (50%) HP:0001511
10 frontal bossing typical (50%) HP:0002007
11 spina bifida occulta typical (50%) HP:0003298
12 abnormal form of the vertebral bodies typical (50%) HP:0003312
13 vertebral segmentation defect typical (50%) HP:0003422
14 abnormal nasal morphology typical (50%) HP:0005105
15 telangiectasia of the skin typical (50%) HP:0100585
16 cryptorchidism occasional (7.5%) HP:0000028
17 abnormality of the ureter occasional (7.5%) HP:0000069
18 nephrotic syndrome occasional (7.5%) HP:0000100
19 malar flattening occasional (7.5%) HP:0000272
20 hypertelorism occasional (7.5%) HP:0000316
21 short philtrum occasional (7.5%) HP:0000322
22 micrognathia occasional (7.5%) HP:0000347
23 strabismus occasional (7.5%) HP:0000486
24 deeply set eye occasional (7.5%) HP:0000490
25 downslanted palpebral fissures occasional (7.5%) HP:0000494
26 abnormality of the pupil occasional (7.5%) HP:0000615
27 abnormality of the ribs occasional (7.5%) HP:0000772
28 hypertension occasional (7.5%) HP:0000822
29 atria septal defect occasional (7.5%) HP:0001631
30 delayed skeletal maturation occasional (7.5%) HP:0002750
31 abnormality of chromosome segregation occasional (7.5%) HP:0002916
32 abnormality of the ulna occasional (7.5%) HP:0002997
33 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
34 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
35 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
36 short distal phalanx of finger occasional (7.5%) HP:0009882
37 cognitive impairment occasional (7.5%) HP:0100543
38 decreased corneal thickness occasional (7.5%) HP:0100689
39 short distal phalanx of finger HP:0009882
40 multiple small medullary renal cysts HP:0008659
41 pigmentary retinal deposits HP:0007702
42 prolonged neonatal jaundice HP:0006579
43 reduced number of intrahepatic bile ducts HP:0006571
44 depressed nasal bridge HP:0005280
45 peripheral pulmonary artery stenosis HP:0004969
46 butterfly vertebral arch HP:0004617
47 long nose HP:0003189
48 hypercholesterolemia HP:0003124
49 hypoplasia of the ulna HP:0003022
50 hemivertebrae HP:0002937
51 elevated hepatic transaminases HP:0002910
52 papillary thyroid carcinoma HP:0002895
53 hypertriglyceridemia HP:0002155
54 renal tubular acidosis HP:0001947
55 exocrine pancreatic insufficiency HP:0001738
56 coarctation of aorta HP:0001680
57 tetralogy of fallot HP:0001636
58 atria septal defect HP:0001631
59 ventricular septal defect HP:0001629
60 failure to thrive HP:0001508
61 axenfeld anomaly HP:0001492
62 hepatocellular carcinoma HP:0001402
63 cirrhosis HP:0001394
64 specific learning disability HP:0001328
65 stroke HP:0001297
66 areflexia HP:0001284
67 intellectual disability, mild HP:0001256
68 abnormality of the ribs HP:0000772
69 posterior embryotoxon HP:0000627
70 band keratopathy HP:0000585
71 upslanted palpebral fissure HP:0000582
72 myopia HP:0000545
73 chorioretinal atrophy HP:0000533
74 cataract HP:0000518
75 deeply set eye HP:0000490
76 strabismus HP:0000486
77 microcornea HP:0000482
78 macrotia HP:0000400
79 broad forehead HP:0000337
80 triangular face HP:0000325
81 hypertelorism HP:0000316
82 renal dysplasia HP:0000110
83 renal hypoplasia HP:0000089
84 vesicoureteral reflux HP:0000076

Drugs & Therapeutics for Alagille Syndrome

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

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and SaltsPhase 286
2Liver ExtractsPhase 23572
3
Magnesium Sulfateapproved1547487-88-924083
Synonyms:
(C10-C16) Alkylalcohol sulfuric acid, magnesium salt
00627_FLUKA
10028-26-9
10034-99-8 (heptahydrate)
13143_RIEDEL
13143_SIAL
139939-75-6
18939-43-0
203726_ALDRICH
208094_SIAL
34276_FLUKA
34276_RIEDEL
38146_FLUKA
38146_RIEDEL
63126_FLUKA
63136_FLUKA
63136_SIAL
63139_FLUKA
63139_SIAL
68081-97-0
7487-88-9
AC1L2N76
AC1LAX36
AC1Q1U66
AI3-02029
Bitter salt
C10-C16 Alkyl alcohol sulfuric acid magnesium salt
CCRIS 8411
CHEBI:32599
CID24083
CPD0-2390
Caswell No. 534
D008278
DB00653
EINECS 231-298-2
EINECS 233-073-4
EINECS 242-691-3
EINECS 268-365-0
EPA Pesticide Chemical Code 050503
Epsom Sal
Epsom Salt
Epsom Salt Magnesium Sulfate
Epsom Salt Soaking Solution
Epsom salt
HSDB 664
Hair salt
Health Smart Natural Epsom Salt
Heptahydrate Magnesium Sulfate
Humco Epson Salt
Kieserite [as monohydrate]
LS-88605
M2643_SIGMA
M3409_SIGMA
 
M7506_SIAL
M8150_SIGMA
MAGNESIUM SULFATE
Magnesium Sulfate
Magnesium Sulfate In Plastic Container
Magnesium Sulfate, Heptahydrate
Magnesium Sulphate Hydrate
Magnesium bisulfate
Magnesium hydrogensulphate
Magnesium sulfate
Magnesium sulfate (1:1)
Magnesium sulfate anhydrous
Magnesium sulfate dried
Magnesium sulfate heptahydrate
Magnesium sulfate hexahydrate
Magnesium sulfate in dextrose 5% in plastic container
Magnesium sulfate solution
Magnesium sulphate
Magnesium sulphate anhydrous
Magnesium sulphate dried
Magnesium sulphate heptahydrate
Magnesium(II) sulfate
Magnesium(ii) sulfate
Magnesiumsulfat
MgSO4
MolPort-003-925-000
Morton Natural Epsom Salt
NSC 146179
Natural Epsom Salt
OT-S
OT-S (drying agent)
Pepsom Flying P Epsom Salt
Pepsom Salt Peppermint
Royal Epsom Salt
SDA 15-062-07
Sal Angalis
Sal De sedlitz
Sal amarum
Sal anglicum
Sal catharticum
Sal seidlitense
Salts of england
Sel d'angleterre
Sulfate, Magnesium
Sulfuric acid magnesium salt
Sulfuric acid magnesium salt (1:1)
Sulfuric acid magnesium salt (VAN)
Sulfuric acid, C10-16 alkyl ester, magnesium salt
Sulfuric acid, magnesium salt
Sulfuric acid, magnesium salt (1:1)
Sulfuric acid, mono-C10-16-alkyl esters, magnesium salts
Tomix OT
UNII-DE08037SAB
UNII-ML30MJ2U7I
magnesium(2+) ion sulfate
4
Pancrelipaseapproved88053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
5Central Nervous System Depressants10016
6Tocolytic Agents561
7Peripheral Nervous System Agents18510
8Calcium, Dietary4678
9Analgesics9358
10calcium channel blockers1743
11Anesthetics7385
12Anti-Arrhythmia Agents2371
13Anticonvulsants2249
14pancreatin880
15Protein C Inhibitor85
16Alpha 1-Antitrypsin87

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille SyndromeCompletedNCT01903460Phase 2
2An 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 SyndromeRecruitingNCT02117713Phase 2
3Evaluation of LUM001 in the Reduction of Pruritus in Alagille SyndromeRecruitingNCT02057692Phase 2
4An 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 SyndromeActive, not recruitingNCT02047318Phase 2
5A Long-Term, Open-Label Study of LUM001 With a Double-Blind, Placebo Controlled, Randomized Drug Withdrawal Period to Evaluate Safety and Efficacy in Children With Alagille SyndromeActive, not recruitingNCT02160782Phase 2
6Positional Cloning of the Gene(s) Responsible for Alagille SyndromeCompletedNCT00001642
7Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver DiseaseCompletedNCT00007033
8Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver DiseaseCompletedNCT02131623
9Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record ReviewRecruitingNCT01515631
10Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)RecruitingNCT00571272
11Shear Wave Sonoelastography in Pediatric Liver FibrosisRecruitingNCT02372682

Search NIH Clinical Center for Alagille Syndrome


Cochrane evidence based reviews: alagille syndrome

Genetic Tests for Alagille Syndrome

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Genetic tests related to Alagille Syndrome:

id Genetic test Affiliating Genes
1 Alagille Syndrome22 NOTCH2

Anatomical Context for Alagille Syndrome

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MalaCards organs/tissues related to Alagille Syndrome:

33
Liver, Heart, Kidney, Eye, Bone, Testes, Skin

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alagille Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest Cells Affected by disease
2 LiverIntrahepatic Biliary TreeImmature Biliary Epithelial Cells Affected by disease

Animal Models for Alagille Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Alagille Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5FOXA2, HEY2, JAG1, NOTCH1, NOTCH2, SCARB1
2MP:00053918.5EGF, FOXA2, JAG1, LCAT, NOTCH1, NOTCH2
3MP:00020068.4ABCB4, FOXA2, HP, NOTCH1, NOTCH2
4MP:00053818.3ABCB4, EGF, FOXA2, JAG1, NOTCH1, NOTCH2
5MP:00053797.7ABCB4, EGF, FOXA2, JAG1, LCAT, NOTCH1
6MP:00053977.1ABCB4, FOXA2, HP, JAG1, LCAT, NOTCH1
7MP:00053856.7ABCB4, FOXA2, HEY2, HP, JAG1, LCAT
8MP:00053876.5ABCB4, EGF, FOXA2, HP, MME, NOTCH1
9MP:00053706.3ABCB4, ATP8B1, FOXA2, HEY2, HP, JAG1
10MP:00053766.0ABCB4, ATP8B1, FOXA2, HEY2, HP, JAG1

Publications for Alagille Syndrome

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Articles related to Alagille Syndrome:

(show top 50)    (show all 353)
idTitleAuthorsYear
1
Enhanced surveillance of tetanus toxoid, reduced diphtheria toxoid, and acellular pertussis (Tdap) vaccines in pregnancy in the Vaccine Adverse Event Reporting System (VAERS), 2011-2015. (27013434)
2016
2
Circulating miR-483-3p and miR-21 is highly expressed in plasma of pancreatic cancer. (25384963)
2014
3
Silencing DACH1 promotes esophageal cancer growth by inhibiting TGF-I^ signaling. (24743895)
2014
4
Establishment of a Multidisciplinary Hepatocellular Carcinoma Clinic is Associated with Improved Clinical Outcome. (24318095)
2013
5
Enhanced RegIV expression predicts the intrinsic 5-fluorouracil (5-FU) resistance in advanced gastric cancer. (23010741)
2013
6
Clinical impact of an angiotensin I-converting enzyme insertion/deletion and kinin B2 receptor +9/-9 polymorphisms in the prognosis of renal transplantation. (23362199)
2013
7
Visualisation and identification of the interaction between STIM1s in resting cells. (22438918)
2012
8
What role does nutrition play in the prevention or treatment of childhood lead poisoning? (23102188)
2012
9
Increased risk for gastric cancer in carriers of the lymphotoxin-I++252G variant infected by Helicobacter pylori. (21793721)
2012
10
Anion- and proton-dependent gating of ClC-4 anion/proton transporter under uncoupling conditions. (21354396)
2011
11
Chronic pulmonary bleeding as the first sign of microscopic polyangiitis associated with autoimmune thyroiditis. (21738252)
2011
12
Detoxification and endothelialization of glutaraldehyde-fixed bovine pericardium with titanium coating: a new technology for cardiovascular tissue engineering. (19289635)
2009
13
Mirk/Dyrk1B maintains the viability of quiescent pancreatic cancer cells by reducing levels of reactive oxygen species. (19351855)
2009
14
Type 2 diabetes risk alleles are associated with reduced size at birth. (19228808)
2009
15
Nonobese, exercising children diagnosed with dyslipidemia have normal C-reactive protein. (19436676)
2009
16
CTLA-4 is required by CD4+CD25+ Treg to control CD4+ T-cell lymphopenia-induced proliferation. (19462377)
2009
17
Transient improvement of psychogenic (proprio-)spinal-like myoclonus to electrical nerve stimulation. (19645072)
2009
18
Interleukin-8 signaling attenuates TRAIL- and chemotherapy-induced apoptosis through transcriptional regulation of c-FLIP in prostate cancer cells. (18790747)
2008
19
Podocyte foot process effacement as a diagnostic tool in focal segmental glomerulosclerosis. (18813290)
2008
20
Acquired duodenal obstruction in children. (19133572)
2008
21
Incidence of reversible amenorrhea in women with breast cancer undergoing adjuvant anthracycline-based chemotherapy with or without docetaxel. (18291033)
2008
22
Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea. (17676051)
2007
23
Human follicular lymphoma cells contain oligomannose glycans in the antigen-binding site of the B-cell receptor. (17197448)
2007
24
PYP-1, inorganic pyrophosphatase, is required for larval development and intestinal function in C. elegans. (17981157)
2007
25
The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter. (16613990)
2006
26
Primary malignant fibrous histiocytoma of the small bowel: a report of an additional case in duodenum. (16648661)
2005
27
Structure-activity studies of 3'-4'-dichloro-meperidine analogues at dopamine and serotonin transporters. (15993612)
2005
28
Uterine extramedullary plasmacytoma in a dog. (15200080)
2004
29
Addison's disease. (15518054)
2004
30
A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. (12079288)
2002
31
SPAL, a Rap-specific GTPase activating protein, is present in the NMDA receptor-PSD-95 complex in the hippocampus. (12059963)
2002
32
Prevention of postoperative meatal stenosis with anteriorly and inferiorly based periosteal flaps in congenital aural atresia surgery. (11773841)
2002
33
Angiotensin I-converting enzyme gene polymorphism influences chronic hypertensive response in the rat Goldblatt model. (11875308)
2002
34
Apolipoprotein H, a new mediator in the inflammatory changes ensuring in jeopardised human myocardium. (11127271)
2000
35
Neurofibromatosis type 1 and McCune-Albright syndrome occurring in the same patient. (11122036)
2000
36
IFN-gamma is only partially restored by co-stimulation with IL-12, IL-2, IL-15, IL-18 or engagement of CD28. (10051725)
1999
37
Cholesterol saturation, not proteins or cholecystitis, is critical for crystal formation in human gallbladder bile. (9558292)
1998
38
Prolactin secretion in endometriotic patients. (9076428)
1997
39
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. (9039986)
1997
40
Molecular biology of the long QT syndrome: impact on management. (9272507)
1997
41
Inhibition of transcriptional regulator Yin-Yang-1 by association with c-Myc. (8266081)
1993
42
Response of small-cell lung cancer xenografts to chemotherapy: multidrug resistance and direct clinical correlates. (7902445)
1993
43
Topography of glycosyltransferases involved in the initial glycosylations of gangliosides. (1834652)
1991
44
Relation between the levels of estrogen receptor and progesterone receptor and clinicopathological status in human endometrial carcinomas]. (1774041)
1991
45
Relationship of estrogen and pregnancy to calcium homeostasis in pseudohypoparathyroidism. (3753557)
1986
46
Immunogenetic and immunologic aspects of gliosarcoma growth in rats. (6604839)
1983
47
Acute gastric volvulus following Harrington rod instrumentation in a patient with Werdnig-Hoffman disease. (7302686)
1981
48
The Golgi material of the neurones of the central nervous system of sheep infected with louping-ill. (20240378)
1947
49
50

Variations for Alagille Syndrome

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

67 (show all 51)
id Symbol AA change Variation ID SNP ID
1JAG1p.Leu37SerVAR_013186
2JAG1p.Leu79HisVAR_013187
3JAG1p.Ala127ThrVAR_013188
4JAG1p.Pro129ArgVAR_013189
5JAG1p.Ile152ThrVAR_013190
6JAG1p.Pro163LeuVAR_013191
7JAG1p.Arg184CysVAR_013192
8JAG1p.Arg184GlyVAR_013193
9JAG1p.Arg184HisVAR_013194
10JAG1p.Arg184LeuVAR_013195
11JAG1p.Cys187SerVAR_013196
12JAG1p.Cys220PheVAR_013197
13JAG1p.Cys229GlyVAR_013198
14JAG1p.Cys229TyrVAR_013199
15JAG1p.Cys284PheVAR_013201
16JAG1p.Trp288CysVAR_013202
17JAG1p.Gly386ArgVAR_013203
18JAG1p.Cys438PheVAR_013204
19JAG1p.Cys731SerVAR_013205
20JAG1p.Cys740ArgVAR_013206
21JAG1p.Cys753ArgVAR_013207
22JAG1p.Ala31ValVAR_026297
23JAG1p.Gly33AspVAR_026298
24JAG1p.Gly33SerVAR_026299
25JAG1p.Gly33ValVAR_026300
26JAG1p.Ile39SerVAR_026301
27JAG1p.Leu40ProVAR_026302
28JAG1p.Phe75SerVAR_026306
29JAG1p.Cys78SerVAR_026307
30JAG1p.Cys92ArgVAR_026308
31JAG1p.Cys92TyrVAR_026309
32JAG1p.Ile120AsnVAR_026310
33JAG1p.Pro123SerVAR_026311
34JAG1p.Ala155ProVAR_026312
35JAG1p.Pro163ArgVAR_026313
36JAG1p.Tyr181AsnVAR_026314
37JAG1p.Cys187TyrVAR_026315
38JAG1p.Trp224CysVAR_026317
39JAG1p.Arg252GlyVAR_026319
40JAG1p.Gly256SerVAR_026320
41JAG1p.Pro269LeuVAR_026321
42JAG1p.Cys271ArgVAR_026322
43JAG1p.Asn504SerVAR_026323
44JAG1p.Cys693TyrVAR_026325
45JAG1p.Cys714TyrVAR_026326
46JAG1p.Arg889GlnVAR_026329
47JAG1p.Cys902SerVAR_026330
48JAG1p.Cys911TyrVAR_026332
49JAG1p.Ser913ArgVAR_026333
50JAG1p.Arg937GlnVAR_026335rs145895196
51JAG1p.Cys436TrpVAR_071513

Clinvar genetic disease variations for Alagille Syndrome:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1JAG1NM_000214.2(JAG1): c.1511A> G (p.Asn504Ser)single nucleotide variantLikely pathogenicrs527236046GRCh37Chr 20, 10629255: 10629255
2JAG1NM_000214.2(JAG1): c.2122_2125delCAGT (p.Gln708Valfs)deletionPathogenicrs727504412GRCh37Chr 20, 10625893: 10625896
3JAG1NM_000214.2(JAG1): c.1326G> A (p.Trp442Ter)single nucleotide variantPathogenicrs794726974GRCh37Chr 20, 10630192: 10630192
4JAG1NM_000214.2(JAG1): c.1207C> T (p.Gln403Ter)single nucleotide variantPathogenicrs794727953GRCh37Chr 20, 10630922: 10630922
5JAG1JAG1, 2-BP DEL, 3098GTdeletionPathogenic
6JAG1JAG1, IVS23DS, G-C, +1single nucleotide variantPathogenic
7JAG1JAG1, 2-BP DEL, 1104AGdeletionPathogenic
8JAG1JAG1, 1-BP DEL, 2066CdeletionPathogenic
9JAG1NM_000214.2(JAG1): c.550C> T (p.Arg184Cys)single nucleotide variantPathogenicrs121918350GRCh37Chr 20, 10639260: 10639260
10JAG1NM_000214.2(JAG1): c.551G> A (p.Arg184His)single nucleotide variantPathogenicrs121918351GRCh37Chr 20, 10639259: 10639259
11JAG1JAG1, 5-BP DELdeletionPathogenic
12JAG1JAG1, 1-BP INS, 1618CinsertionPathogenic
13JAG1JAG1, 1-BP INS, 684GinsertionPathogenic
14JAG1NM_000214.2(JAG1): c.110T> C (p.Leu37Ser)single nucleotide variantPathogenicrs121918352GRCh37Chr 20, 10653626: 10653626
15JAG1JAG1, 2-BP DEL, 1485CTdeletionPathogenic
16JAG1JAG1, 1329, T-G, +2single nucleotide variantPathogenic

Expression for genes affiliated with Alagille Syndrome

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Search GEO for disease gene expression data for Alagille Syndrome.

Pathways for genes affiliated with Alagille Syndrome

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
110.0NOTCH1, NOTCH2
29.7JAG1, NOTCH1, NOTCH2
3
Show member pathways
9.7JAG1, NOTCH1, NOTCH2
4
Show member pathways
9.7JAG1, NOTCH1, NOTCH2
5
Show member pathways
9.6HEY2, JAG1, NOTCH1
69.6HEY2, NOTCH1, NOTCH2
79.6EGF, NOTCH1, NOTCH2
89.4MME, NOTCH1, NOTCH2
9
Show member pathways
9.4HEY2, JAG1, NOTCH1, NOTCH2
10
Show member pathways
9.3LCAT, LPA, SCARB1
119.1FOXA2, HEY2, NOTCH1
12
Show member pathways
9.0FOXA2, HEY2, NOTCH1
139.0EGF, FOXA2, NOTCH1

GO Terms for genes affiliated with Alagille Syndrome

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1pulmonary artery morphogenesisGO:006115610.4HEY2, JAG1
2response to muramyl dipeptideGO:003249510.4JAG1, NOTCH1
3cardiac septum morphogenesisGO:006041110.3JAG1, NOTCH1
4keratinocyte differentiationGO:003021610.3JAG1, NOTCH1
5neuronal stem cell population maintenanceGO:009715010.3JAG1, NOTCH1
6regulation of auditory receptor cell differentiationGO:004560710.3HEY2, NOTCH1
7regulation of developmental processGO:005079310.3NOTCH1, NOTCH2
8drug transmembrane transportGO:000685510.3ABCB4, ATP8B1
9cardiac left ventricle morphogenesisGO:000321410.2HEY2, NOTCH1
10cardiac right ventricle morphogenesisGO:000321510.2HEY2, JAG1
11Notch signaling involved in heart developmentGO:006131410.1JAG1, NOTCH1, NOTCH2
12ventricular trabecula myocardium morphogenesisGO:000322210.1HEY2, NOTCH1
13Notch receptor processingGO:000722010.1NOTCH1, NOTCH2
14pulmonary valve morphogenesisGO:000318410.1JAG1, NOTCH1, NOTCH2
15regulation of cell migrationGO:003033410.0JAG1, NOTCH1
16branching morphogenesis of an epithelial tubeGO:00487549.9EGF, NOTCH1
17cell fate specificationGO:00017089.6FOXA2, NOTCH1
18Notch signaling pathwayGO:00072199.3HEY2, JAG1, NOTCH1, NOTCH2

Sources for Alagille Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet