ALGS1
MCID: ALG028
MIFTS: 73

Alagille Syndrome 1 (ALGS1)

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

Aliases & Classifications for Alagille Syndrome 1

MalaCards integrated aliases for Alagille Syndrome 1:

Name: Alagille Syndrome 1 57 75 29 6 73
Alagille Syndrome 57 38 12 76 24 53 25 59 75 37 13 55 44 15 40
Arteriohepatic Dysplasia 57 12 24 53 25 59 29 6
Alagille-Watson Syndrome 57 12 53 25 59 75
Cholestasis with Peripheral Pulmonary Stenosis 57 53 25 75
Hepatic Ductular Hypoplasia 53 25 73
Hepatofacioneurocardiovertebral Syndrome 53 25
Paucity of Interlobular Bile Ducts 53 25
Syndromic Bile Duct Paucity 24 59
Cardiovertebral Syndrome 53 25
Watson-Miller Syndrome 53 25
Algs1 57 75
Algs 57 75
Aws 57 75
Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation 59
Alagille-Watson Syndrome Due to a Jag1 Point Mutation 59
Arteriohepatic Dysplasia Due to a Jag1 Point Mutation 59
Syndromic Bile Duct Paucity Due to Monosomy 20p12 59
Alagille-Watson Syndrome Due to Monosomy 20p12 59
Arteriohepatic Dysplasia Due to Monosomy 20p12 59
Alagille Syndrome Due to a Jag1 Point Mutation 59
Alagille Syndrome Due to 20p12 Microdeletion 59
Hepatic Ductular Hypoplasia, Syndromatic 57
Alagille Syndrome Due to Monosomy 20p12 59
Alagille Syndrome Due to Del(20)(p12) 59
Alagille-Watson Syndrome; Aws 57
Arteriohepatic Dysplasia; Ahd 57
Hypoplasia Hepatic Ductular 53
Watson Alagille Syndrome 53
Alagille Syndrome; Algs 57
Alagille's Syndrome 25
Ahd 57

Characteristics:

Orphanet epidemiological data:

59
alagille syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Australia),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

57
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:

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

Classifications:



Summaries for Alagille Syndrome 1

NIH Rare Diseases : 53 Alagille syndrome is a genetic syndrome that can affect the liver and other parts of the body. The liver problems result from having fewer small bile ducts than normal in the liver. This leads to bile building-up inside the liver, which in turn causes liver scarring and damage. Signs and symptoms of Alagille syndrome are generally noticed in infancy or early childhood. Type of symptoms and severity varies greatly, even among people in the same family, so that in some cases the symptoms are severe, and in others, very mild. The liver problems may be the first symptoms of the syndrome, and may include yellow color of the skin and whites of the eyes (jaundice); itchy skin; bumps on the skin caused by deposits of cholesterol and fats (xanthomas); pale, loose bowel movements; and poor growth. Alagille syndrome can also affect other parts of the body including the heart, brain, kidneys, blood vessels, eyes, face, and skeleton. People with Alagille syndrome may have distinctive facial features too, including a broad, prominent forehead, deep-set eyes, and a small, pointed chin. Alagille syndrome is caused by changes or mutations in the JAG1 and NOTCH2 genes.  Inheritance is autosomal dominant. However, in about half of cases the mutation occurs as a new change ("de novo") without being inherited from either parents. While there is no known cure for Alagille syndrome, there are treatments that can help control symptoms. Possible treatments may include medication that increases the flow of bile and careful management of diet to minimize nutrition and vitamin related problems. In severe cases, a liver transplant may be necessary.

MalaCards based summary : Alagille Syndrome 1, also known as alagille syndrome, is related to cholestasis and intrahepatic cholestasis. An important gene associated with Alagille Syndrome 1 is JAG1 (Jagged 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 hypertelorism and frontal bossing

OMIM : 57 Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012). Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. (118450)

UniProtKB/Swiss-Prot : 75 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.

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 : 76 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 83)
# Related Disease Score Top Affiliating Genes
1 cholestasis 30.2 ABCB4 ATP8B1 JAG1
2 intrahepatic cholestasis 29.8 ABCB4 ATP8B1 JAG1
3 alagille syndrome 2 12.3
4 allan-herndon-dudley syndrome 11.5
5 lambert syndrome 11.3
6 alveolar echinococcosis 11.0
7 glycogen storage disease ixc 10.9
8 biliary atresia, extrahepatic 10.9
9 bile acid synthesis defect, congenital, 2 10.9
10 bile acid synthesis defect, congenital, 1 10.9
11 hardikar syndrome 10.9
12 lacrimal gland adenoid cystic carcinoma 10.5 NOTCH1 NOTCH2
13 ossifying fibroma 10.4 JAG1 NOTCH1
14 lung adenoma 10.4 NOTCH1 NOTCH2
15 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.4 JAG1 NOTCH1
16 tricuspid valve stenosis 10.3 JAG1 NOTCH1
17 cholestasis, progressive familial intrahepatic, 2 10.3 ABCB4 ATP8B1
18 spinal cord ependymoma 10.3 JAG1 NOTCH1
19 nodular regenerative hyperplasia 10.2 JAG1 NOTCH1 NOTCH2
20 prune belly syndrome 10.2
21 mct8-specific thyroid hormone cell-membrane transporter deficiency 10.2
22 biliary atresia 10.1
23 aneurysm 10.1
24 oliver syndrome 10.1 NOTCH1 RBPJ
25 hepatitis 10.1
26 renal-hepatic-pancreatic dysplasia 10.1 JAG1 NOTCH2
27 cholestasis, progressive familial intrahepatic, 3 10.1 ABCB4 ATP8B1 JAG1
28 hepatocellular carcinoma 10.0
29 cholestasis, progressive familial intrahepatic, 1 10.0 ABCB4 ATP8B1 JAG1
30 bile duct disease 10.0 ABCB4 ATP8B1
31 aplasia cutis congenita 10.0 NOTCH1 RBPJ
32 liver disease 10.0
33 chorioretinitis 9.9
34 williams-beuren syndrome 9.8
35 moyamoya disease 1 9.8
36 craniosynostosis 9.8
37 cerebritis 9.8
38 retinitis 9.8
39 pancreatitis 9.8
40 intracranial hypertension 9.8
41 chromosome 20p deletion 9.8
42 cerebral aneurysms 9.8
43 peripheral pulmonary stenosis 9.8
44 protoporphyria, erythropoietic 9.7
45 retinal detachment 9.7
46 steatocystoma multiplex 9.7
47 tetralogy of fallot 9.7
48 wolff-parkinson-white syndrome 9.7
49 hypervitaminosis a 9.7
50 intracranial hypertension, idiopathic 9.7

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:

57
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 dysplasia
renal tubular acidosis
renal involvement (in 39%)
small kidneys
more
Neoplasia:
hepatocellular carcinoma
papillary thyroid carcinoma

Skeletal Hands:
short distal phalanges

Chest Ribs Sternum Clavicles And Scapulae:
rib anomalies

Abdomen Biliary Tract:
extrahepatic duct involvement

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

Growth Other:
failure to thrive

Laboratory Abnormalities:
hypertriglyceridemia
hypercholesterolemia
increased conjugated bilirubin
elevated transaminases

Cardiovascular 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

Human phenotypes related to Alagille Syndrome 1:

59 32 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
6 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
7 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
8 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
9 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
10 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
11 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
12 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
13 corneal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001131
14 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
15 flat face 59 32 occasional (7.5%) Occasional (29-5%) HP:0012368
16 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
17 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
18 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
19 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
20 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
21 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
22 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
23 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
24 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
25 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
26 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
27 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
28 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
29 cholestasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001396
30 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
31 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
32 spina bifida occulta 59 32 frequent (33%) Frequent (79-30%) HP:0003298
33 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
34 peripheral pulmonary artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004969
35 short distal phalanx of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009882
36 abnormality of the ureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000069
37 keratoconus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000563
38 hypoplasia of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0003022
39 long nose 59 32 frequent (33%) Frequent (79-30%) HP:0003189
40 butterfly vertebral arch 59 32 frequent (33%) Frequent (79-30%) HP:0004617
41 reduced number of intrahepatic bile ducts 59 32 hallmark (90%) Very frequent (99-80%) HP:0006571
42 macrotia 32 HP:0000400
43 cataract 32 HP:0000518
44 depressed nasal bridge 32 HP:0005280
45 hypertriglyceridemia 32 HP:0002155
46 abnormal form of the vertebral bodies 59 Frequent (79-30%)
47 elevated hepatic transaminases 32 HP:0002910
48 myopia 32 HP:0000545
49 coarctation of aorta 32 HP:0001680
50 cirrhosis 32 HP:0001394

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased vaccinia virus (VACV-LREV ) gene expression GR00351-A-2 8.62 ATP8B1 JAG1

MGI Mouse Phenotypes related to Alagille Syndrome 1:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 ABCB4 JAG1 LCAT MESP2 NOTCH1 NOTCH2
2 cellular MP:0005384 10.07 RBPJ SRRT ABCB4 JAG1 MESP2 NOTCH1
3 growth/size/body region MP:0005378 10.06 ABCB4 ATP8B1 DLL3 JAG1 MESP2 NOTCH1
4 embryo MP:0005380 10.04 MESP2 NOTCH1 NOTCH2 RBPJ SRRT DLL3
5 endocrine/exocrine gland MP:0005379 10.02 ABCB4 JAG1 LCAT NOTCH1 NOTCH2 RBPJ
6 hematopoietic system MP:0005397 9.95 ABCB4 JAG1 LCAT NOTCH1 NOTCH2 RBPJ
7 mortality/aging MP:0010768 9.92 DLL3 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ
8 digestive/alimentary MP:0005381 9.91 ABCB4 JAG1 NOTCH1 NOTCH2 RBPJ
9 liver/biliary system MP:0005370 9.85 ABCB4 ATP8B1 JAG1 LCAT NOTCH1 NOTCH2
10 hearing/vestibular/ear MP:0005377 9.73 ATP8B1 DLL3 JAG1 NOTCH1
11 muscle MP:0005369 9.73 NOTCH2 RBPJ DLL3 JAG1 MESP2 NOTCH1
12 nervous system MP:0003631 9.7 ATP8B1 DLL3 JAG1 MESP2 NOTCH1 NOTCH2
13 renal/urinary system MP:0005367 9.35 JAG1 LCAT NOTCH1 NOTCH2 RBPJ
14 skeleton MP:0005390 9.17 ABCB4 DLL3 JAG1 MESP2 NOTCH1 NOTCH2

Drugs & Therapeutics for Alagille Syndrome 1

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts Phase 2
2 Liver Extracts Phase 2,Not Applicable
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
Magnesium Sulfate Approved, Investigational, Vet_approved Not Applicable 7487-88-9 24083
10
Pancrelipase Approved, Investigational 53608-75-6
11
Serine Approved, Nutraceutical 56-45-1 5951
12 Analgesics Not Applicable
13 Anesthetics Not Applicable
14 Anti-Arrhythmia Agents Not Applicable
15 Anticonvulsants Not Applicable
16 calcium channel blockers Not Applicable
17 Calcium, Dietary Not Applicable
18 Central Nervous System Depressants Not Applicable
19 Peripheral Nervous System Agents Not Applicable
20 Tocolytic Agents Not Applicable
21 Alpha 1-Antitrypsin
22 pancreatin
23 Protein C Inhibitor
24 Hematinics
25 HIV Protease Inhibitors
26
protease inhibitors
27 Serine Proteinase Inhibitors
28 Trypsin Inhibitors

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Evaluation of LUM001 in the Reduction of Pruritus in Alagille Syndrome Completed NCT02057692 Phase 2 LUM001;Placebo
2 Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille Syndrome Completed NCT01903460 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 Participants With Alagille Syndrome Active, not recruiting NCT02117713 Phase 2 LUM001
4 A 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 Syndrome Active, not recruiting NCT02160782 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 Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Completed NCT00001642
9 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
10 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 Not Applicable magnesium gluconate;magnesium sulfate
11 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
12 Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Review Recruiting NCT01515631
13 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
14 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:

# Genetic test Affiliating Genes
1 Alagille Syndrome 1 29 JAG1
2 Arteriohepatic Dysplasia 29

Anatomical Context for Alagille Syndrome 1

MalaCards organs/tissues related to Alagille Syndrome 1:

41
Liver, Skin, Heart, Kidney, Eye, Brain, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alagille Syndrome 1:
# Tissue Anatomical CompartmentCell Relevance
1 Head Mesenchyme Branchial Arch 3,4,6 Cardiac Neural Crest Cells Affected by disease
2 Liver Intrahepatic Biliary Tree Immature Biliary Epithelial Cells Affected by disease

Publications for Alagille Syndrome 1

Articles related to Alagille Syndrome 1:

(show top 50) (show all 382)
# Title Authors Year
1
Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations. ( 29162437 )
2018
2
Anterior Unilateral Plagiocephaly in Patient with Alagille Syndrome: Case Report. ( 29530693 )
2018
3
Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation. ( 28141679 )
2017
4
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. ( 28465853 )
2017
5
Frequency and pathogenesis of central liver nodules in Alagille syndrome patients: Reply to Libbrecht and Cassiman. ( 28478502 )
2017
6
Frequency and pathogenesis of central liver nodules in Alagille syndrome patients. ( 28474254 )
2017
7
Perioperative Management of Subarachnoid Hemorrhage in a Patient with Alagille Syndrome and Unrepaired Tetralogy of Fallot: Case Report. ( 29255712 )
2017
8
Imaging findings of Alagille syndrome in young infants: differentiation from biliary atresia. ( 28749707 )
2017
9
Giant hepatic regenerative nodules in Alagille syndrome. ( 27796468 )
2017
10
On the Pathogenesis of Central Liver Nodules in Alagille Syndrome. ( 28231074 )
2017
11
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome. ( 28090565 )
2016
12
Alagille syndrome: clinical perspectives. ( 27418850 )
2016
13
New JAG1 mutation causing Alagille Syndrome presenting with severe hypercholesterolemia: Case report with emphasis on genetics and lipid abnormalities. ( 27967296 )
2016
14
CT-defined phenotype of pulmonary artery stenoses in Alagille syndrome. ( 27041277 )
2016
15
Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review. ( 28492167 )
2016
16
Exocrine pancreatic function in children with Alagille syndrome. ( 27748459 )
2016
17
A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report. ( 27906097 )
2016
18
Central Liver Nodules in Alagille Syndrome and Biliary Atresia After Kasai Portoenterostomy. ( 27007399 )
2016
19
Alagille Syndrome Candidates for Liver Transplantation: Differentiation from End-Stage Biliary Atresia Using Preoperative CT. ( 26901874 )
2016
20
Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression. ( 28018696 )
2016
21
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 )
2016
22
Anterior Chamber Pathology in Alagille Syndrome. ( 27843908 )
2016
23
Alagille syndrome associated with intestinal atresia. ( 26596367 )
2016
24
Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report. ( 27322896 )
2016
25
Ultrasonography evaluation of infants with Alagille syndrome: In comparison with biliary atresia and neonatal hepatitis. ( 27161050 )
2016
26
Sleep Mask-like Chorioretinal Atrophy in a Patient With Alagille Syndrome. ( 27858950 )
2016
27
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. ( 26463753 )
2015
28
Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. ( 26201540 )
2015
29
Subarachnoid hemorrhage due to aneurysm rupture in a young woman with Alagille syndrome - A rare cause of sudden death. ( 25813756 )
2015
30
Williams syndrome presenting with findings consistent with Alagille syndrome. ( 25678968 )
2015
31
A faithful JAGGED1 haploinsufficiency mouse model of arteriohepatic dysplasia (Alagille Syndrome) after all. ( 26560881 )
2015
32
Negative feedback loop of cholesterol regulation is impaired in the livers of patients with Alagille syndrome. ( 25444747 )
2015
33
Pretransplant management of basilar artery aneurysm and moyamoya disease in a child with Alagille syndrome. ( 26043700 )
2015
34
Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation. ( 25613755 )
2015
35
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. ( 26076142 )
2015
36
Solitary Hepatic Nodule Adjacent To The Right Portal Vein: A Common Finding of Alagille Syndrome? ( 26284540 )
2015
37
Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome. ( 26059338 )
2015
38
Clinical features, Outcomes, and Genetic analysis in Korean Children with Alagille Syndrome. ( 25676721 )
2015
39
Acute Liver Failure in an Adult, a Rare Complication of Alagille Syndrome: Case Report and Brief Review. ( 26361673 )
2015
40
Outcome of Alagille Syndrome Patients Who Had Previously Received Kasai Operation during Infancy: A Single Center Study. ( 26473137 )
2015
41
Immune dysregulation in Alagille syndrome: A new feature of the evolving phenotype. ( 26026399 )
2015
42
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. ( 25737299 )
2015
43
JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome. ( 26339425 )
2015
44
Moyamoya syndrome associated with Alagille syndrome: outcome after surgical revascularization. ( 25465847 )
2015
45
Alagille Syndrome Mimicking Biliary Atresia in Early Infancy. ( 26618708 )
2015
46
Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center. ( 26576184 )
2015
47
Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome. ( 25564806 )
2015
48
Implantation of an Absorb bioresorbable vascular scaffold in the stenotic aortopulmonary collateral artery of a young child with Alagille syndrome. ( 26011192 )
2015
49
Identification of Bile Duct Paucity in Alagille Syndrome: Utilizing CK7 and EMA Immunohistochemistry as a reliable panel for accurate diagnosis. ( 26366614 )
2015
50
Total biliary diversion as a treatment option for patients with progressive familial intrahepatic cholestasis and Alagille syndrome. ( 26319776 )
2015

Variations for Alagille Syndrome 1

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

75 (show all 50)
# 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 rs1032920906Alagille
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.Cys902Ser VAR_026330 rs876661122
47 JAG1 p.Cys911Tyr VAR_026332
48 JAG1 p.Ser913Arg VAR_026333
49 JAG1 p.Arg937Gln VAR_026335 rs145895196
50 JAG1 p.Cys436Trp VAR_071513

ClinVar genetic disease variations for Alagille Syndrome 1:

6
(show top 50) (show all 342)
# Gene Variation Type Significance SNP ID Assembly Location
1 JAG1 JAG1, 1-BP INS, 684G insertion 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.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121918350 GRCh38 Chromosome 20, 10658612: 10658612
8 JAG1 NM_000214.2(JAG1): c.551G> A (p.Arg184His) single nucleotide variant Pathogenic rs121918351 GRCh37 Chromosome 20, 10639259: 10639259
9 JAG1 NM_000214.2(JAG1): c.551G> A (p.Arg184His) single nucleotide variant Pathogenic rs121918351 GRCh38 Chromosome 20, 10658611: 10658611
10 JAG1 JAG1, 5-BP DEL deletion Pathogenic
11 JAG1 JAG1, 1-BP INS, 1618C insertion Pathogenic
12 JAG1 NM_000214.2(JAG1): c.821G> A (p.Gly274Asp) single nucleotide variant Likely pathogenic rs28939668 GRCh37 Chromosome 20, 10633181: 10633181
13 JAG1 NM_000214.2(JAG1): c.821G> A (p.Gly274Asp) single nucleotide variant Likely pathogenic rs28939668 GRCh38 Chromosome 20, 10652533: 10652533
14 JAG1 NM_000214.2(JAG1): c.110T> C (p.Leu37Ser) single nucleotide variant Pathogenic rs121918352 GRCh37 Chromosome 20, 10653626: 10653626
15 JAG1 NM_000214.2(JAG1): c.110T> C (p.Leu37Ser) single nucleotide variant Pathogenic rs121918352 GRCh38 Chromosome 20, 10672978: 10672978
16 JAG1 JAG1, 2-BP DEL, 1485CT deletion Pathogenic
17 JAG1 JAG1, 1329, T-G, +2 single nucleotide variant Pathogenic
18 JAG1 NM_000214.2(JAG1): c.2122_2125delCAGT (p.Gln708Valfs) deletion Pathogenic rs727504412 GRCh37 Chromosome 20, 10625893: 10625896
19 JAG1 NM_000214.2(JAG1): c.2122_2125delCAGT (p.Gln708Valfs) deletion Pathogenic rs727504412 GRCh38 Chromosome 20, 10645245: 10645248
20 JAG1 NM_000214.2(JAG1): c.2559C> T (p.Ala853=) single nucleotide variant Benign rs201234393 GRCh37 Chromosome 20, 10623149: 10623149
21 JAG1 NM_000214.2(JAG1): c.2559C> T (p.Ala853=) single nucleotide variant Benign rs201234393 GRCh38 Chromosome 20, 10642501: 10642501
22 JAG1 NM_000214.2(JAG1): c.1326G> A (p.Trp442Ter) single nucleotide variant Pathogenic rs794726974 GRCh37 Chromosome 20, 10630192: 10630192
23 JAG1 NM_000214.2(JAG1): c.1326G> A (p.Trp442Ter) single nucleotide variant Pathogenic rs794726974 GRCh38 Chromosome 20, 10649544: 10649544
24 JAG1 NM_000214.2(JAG1): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs794727953 GRCh37 Chromosome 20, 10630922: 10630922
25 JAG1 NM_000214.2(JAG1): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs794727953 GRCh38 Chromosome 20, 10650274: 10650274
26 JAG1 NM_000214.2(JAG1): c.2810G> A (p.Arg937Gln) single nucleotide variant Likely benign rs145895196 GRCh38 Chromosome 20, 10641566: 10641566
27 JAG1 NM_000214.2(JAG1): c.2810G> A (p.Arg937Gln) single nucleotide variant Likely benign rs145895196 GRCh37 Chromosome 20, 10622214: 10622214
28 JAG1 NM_000214.2(JAG1): c.2766C> T (p.Asp922=) single nucleotide variant Benign/Likely benign rs2229895 GRCh38 Chromosome 20, 10641610: 10641610
29 JAG1 NM_000214.2(JAG1): c.2766C> T (p.Asp922=) single nucleotide variant Benign/Likely benign rs2229895 GRCh37 Chromosome 20, 10622258: 10622258
30 JAG1 NM_000214.2(JAG1): c.2230C> T (p.Arg744Ter) single nucleotide variant Pathogenic rs863223655 GRCh37 Chromosome 20, 10625625: 10625625
31 JAG1 NM_000214.2(JAG1): c.2230C> T (p.Arg744Ter) single nucleotide variant Pathogenic rs863223655 GRCh38 Chromosome 20, 10644977: 10644977
32 JAG1 NM_000214.2(JAG1): c.1826C> T (p.Ser609Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199505265 GRCh37 Chromosome 20, 10627646: 10627646
33 JAG1 NM_000214.2(JAG1): c.1826C> T (p.Ser609Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199505265 GRCh38 Chromosome 20, 10646998: 10646998
34 JAG1 NM_000214.2(JAG1): c.1156G> A (p.Gly386Arg) single nucleotide variant Likely pathogenic rs863223650 GRCh37 Chromosome 20, 10630973: 10630973
35 JAG1 NM_000214.2(JAG1): c.1156G> A (p.Gly386Arg) single nucleotide variant Likely pathogenic rs863223650 GRCh38 Chromosome 20, 10650325: 10650325
36 JAG1 NM_000214.2(JAG1): c.909T> C (p.His303=) single nucleotide variant Likely benign rs139574260 GRCh38 Chromosome 20, 10652228: 10652228
37 JAG1 NM_000214.2(JAG1): c.909T> C (p.His303=) single nucleotide variant Likely benign rs139574260 GRCh37 Chromosome 20, 10632876: 10632876
38 JAG1 NM_000214.2(JAG1): c.440-15T> C single nucleotide variant Benign rs2273060 GRCh38 Chromosome 20, 10658737: 10658737
39 JAG1 NM_000214.2(JAG1): c.440-15T> C single nucleotide variant Benign rs2273060 GRCh37 Chromosome 20, 10639385: 10639385
40 JAG1 NM_000214.2(JAG1): c.270dupG (p.Pro91Alafs) duplication Pathogenic rs863223667 GRCh38 Chromosome 20, 10672818: 10672818
41 JAG1 NM_000214.2(JAG1): c.270dupG (p.Pro91Alafs) duplication Pathogenic rs863223667 GRCh37 Chromosome 20, 10653466: 10653466
42 JAG1 NM_000214.2(JAG1): c.1485_1486delCT (p.Cys496Phefs) deletion Pathogenic rs876660981 GRCh38 Chromosome 20, 10648632: 10648633
43 JAG1 NM_000214.2(JAG1): c.1485_1486delCT (p.Cys496Phefs) deletion Pathogenic rs876660981 GRCh37 Chromosome 20, 10629280: 10629281
44 JAG1 NM_000214.2(JAG1): c.2418C> A (p.Cys806Ter) single nucleotide variant Pathogenic rs533306015 GRCh37 Chromosome 20, 10624466: 10624466
45 JAG1 NM_000214.2(JAG1): c.2418C> A (p.Cys806Ter) single nucleotide variant Pathogenic rs533306015 GRCh38 Chromosome 20, 10643818: 10643818
46 JAG1 NM_000214.2(JAG1): c.2666G> A (p.Arg889Gln) single nucleotide variant Uncertain significance rs149419694 GRCh37 Chromosome 20, 10622447: 10622447
47 JAG1 NM_000214.2(JAG1): c.2666G> A (p.Arg889Gln) single nucleotide variant Uncertain significance rs149419694 GRCh38 Chromosome 20, 10641799: 10641799
48 JAG1 NM_000214.2(JAG1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs876660980 GRCh38 Chromosome 20, 10656450: 10656450
49 JAG1 NM_000214.2(JAG1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs876660980 GRCh37 Chromosome 20, 10637098: 10637098
50 JAG1 NM_000214.2(JAG1): c.2895dupT (p.Asn966Terfs) duplication Pathogenic rs878853752 GRCh38 Chromosome 20, 10641481: 10641481

Copy number variations for Alagille Syndrome 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 150534 20 10579088 10584793 Deletion JAG1 Alagille syndrome
2 154921 20 5000000 17800000 Microdeletion Alagille syndrome
3 154984 20 5100000 25600000 Deletion Alagille syndrome

Expression for Alagille Syndrome 1

Search GEO for disease gene expression data for Alagille Syndrome 1.

Pathways for Alagille Syndrome 1

Pathways related to Alagille Syndrome 1 according to KEGG:

37
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 JAG1 NOTCH1 NOTCH2 RBPJ
2
Show member pathways
12.62 JAG1 NOTCH1 NOTCH2 RBPJ
3 12.6 DLL3 JAG1 NOTCH1 NOTCH2
4
Show member pathways
12.53 DLL3 JAG1 NOTCH1 NOTCH2
5
Show member pathways
12.52 DLL3 JAG1 NOTCH1 NOTCH2
6
Show member pathways
12.31 DLL3 JAG1 NOTCH1 NOTCH2 RBPJ
7
Show member pathways
11.98 DLL3 JAG1 NOTCH1 NOTCH2 RBPJ
8
Show member pathways
11.97 JAG1 NOTCH1 RBPJ
9 11.86 NOTCH1 NOTCH2 RBPJ
10
Show member pathways
11.86 JAG1 NOTCH1 NOTCH2 RBPJ
11
Show member pathways
11.79 NOTCH1 NOTCH2 RBPJ
12 11.63 DLL3 NOTCH1 NOTCH2 RBPJ
13 11.61 DLL3 JAG1 NOTCH1 NOTCH2 RBPJ
14 11.6 JAG1 NOTCH1 NOTCH2
15 11.34 MESP2 NOTCH1
16 11.3 JAG1 NOTCH1 RBPJ
17 11.29 NOTCH1 RBPJ
18 11.26 NOTCH1 RBPJ
19 11.15 NOTCH1 NOTCH2 RBPJ
20 10.75 JAG1 NOTCH1
21 10.69 DLL3 JAG1 NOTCH1
22 10.54 MESP2 NOTCH1
23 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:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.26 ABCB4 ATP8B1 JAG1 NOTCH1
2 brush border membrane GO:0031526 9.16 ABCB4 ATP8B1
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 41)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.86 JAG1 NOTCH1 RBPJ
2 angiogenesis GO:0001525 9.85 JAG1 NOTCH1 RBPJ
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.83 NOTCH1 NOTCH2 RBPJ
4 keratinocyte differentiation GO:0030216 9.76 JAG1 NOTCH1 RBPJ
5 hemopoiesis GO:0030097 9.75 JAG1 NOTCH2 RBPJ
6 negative regulation of cell differentiation GO:0045596 9.73 JAG1 NOTCH1 RBPJ
7 epithelial to mesenchymal transition GO:0001837 9.68 NOTCH1 RBPJ
8 positive regulation of cardiac muscle cell proliferation GO:0060045 9.68 NOTCH1 RBPJ
9 positive regulation of BMP signaling pathway GO:0030513 9.67 NOTCH1 RBPJ
10 blood vessel remodeling GO:0001974 9.67 JAG1 RBPJ
11 somitogenesis GO:0001756 9.67 DLL3 MESP2 RBPJ
12 drug transmembrane transport GO:0006855 9.66 ABCB4 ATP8B1
13 phospholipid translocation GO:0045332 9.65 ABCB4 ATP8B1
14 negative regulation of ossification GO:0030279 9.65 NOTCH1 RBPJ
15 positive regulation of Ras protein signal transduction GO:0046579 9.65 NOTCH1 NOTCH2
16 positive regulation of Notch signaling pathway GO:0045747 9.65 JAG1 NOTCH1 RBPJ
17 negative regulation of neurogenesis GO:0050768 9.64 DLL3 NOTCH1
18 cell fate determination GO:0001709 9.64 JAG1 NOTCH2
19 positive regulation of transcription of Notch receptor target GO:0007221 9.63 NOTCH1 RBPJ
20 ventricular trabecula myocardium morphogenesis GO:0003222 9.63 NOTCH1 RBPJ
21 negative regulation of stem cell differentiation GO:2000737 9.62 JAG1 NOTCH1
22 inflammatory response to antigenic stimulus GO:0002437 9.62 NOTCH1 RBPJ
23 response to muramyl dipeptide GO:0032495 9.61 JAG1 NOTCH1
24 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.61 NOTCH1 RBPJ
25 cardiac septum morphogenesis GO:0060411 9.6 JAG1 NOTCH1
26 cardiac left ventricle morphogenesis GO:0003214 9.59 NOTCH1 RBPJ
27 interleukin-4 secretion GO:0072602 9.57 NOTCH1 RBPJ
28 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.55 NOTCH1 RBPJ
29 regulation of developmental process GO:0050793 9.54 NOTCH1 NOTCH2
30 endocardium development GO:0003157 9.52 NOTCH1 RBPJ
31 compartment pattern specification GO:0007386 9.51 DLL3 NOTCH1
32 auditory receptor cell fate commitment GO:0009912 9.46 NOTCH1 RBPJ
33 distal tubule development GO:0072017 9.43 JAG1 NOTCH1
34 neuronal stem cell population maintenance GO:0097150 9.43 JAG1 NOTCH1 SRRT
35 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.4 NOTCH1 RBPJ
36 endocardium morphogenesis GO:0003160 9.37 NOTCH1 RBPJ
37 pulmonary valve morphogenesis GO:0003184 9.33 JAG1 NOTCH1 NOTCH2
38 negative regulation of growth rate GO:0045967 9.32 NOTCH1 NOTCH2
39 Notch signaling involved in heart development GO:0061314 9.26 JAG1 NOTCH1 NOTCH2 RBPJ
40 Notch signaling pathway GO:0007219 9.1 DLL3 JAG1 MESP2 NOTCH1 NOTCH2 RBPJ
41 multicellular organism development GO:0007275 10.06 DLL3 JAG1 MESP2 NOTCH1 NOTCH2

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 DLL3 JAG1 NOTCH1 NOTCH2
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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