MCID: ALG016
MIFTS: 32

Alagille Syndrome 2

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

Aliases & Classifications for Alagille Syndrome 2

MalaCards integrated aliases for Alagille Syndrome 2:

Name: Alagille Syndrome 2 54 71 29 13 69
Syndromic Bile Duct Paucity Due to a Notch2 Point Mutation 56
Alagille-Watson Syndrome Due to a Notch2 Point Mutation 56
Arteriohepatic Dysplasia Due to a Notch2 Point Mutation 56
Alagille Syndrome Due to a Notch2 Point Mutation 56
Cholestasis with Peripheral Pulmonary Stenosis 71
Alagille-Watson Syndrome 71
Algs2 71
Algs 71
Aws 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

32
alagille syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Alagille Syndrome 2

UniProtKB/Swiss-Prot : 71 Alagille syndrome 2: 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.

MalaCards based summary : Alagille Syndrome 2, also known as syndromic bile duct paucity due to a notch2 point mutation, is related to alagille syndrome 1 and notch2-related alagille syndrome, and has symptoms including atrial septal defect, renal insufficiency and broad forehead. An important gene associated with Alagille Syndrome 2 is NOTCH2 (Notch 2). The drugs Bile Acids and Salts and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and eye.

Description from OMIM: 610205

Related Diseases for Alagille Syndrome 2

Diseases in the Alagille Syndrome 1 family:

Alagille Syndrome 2 Jag1-Related Alagille Syndrome
Notch2-Related Alagille Syndrome

Diseases related to Alagille Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 12.0
2 notch2-related alagille syndrome 10.9
3 watson syndrome 10.0

Symptoms & Phenotypes for Alagille Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
hematuria
proteinuria
renal insufficiency
small kidneys
cystic kidneys
more
Head And Neck- Face:
broad forehead
pointed chin

Head And Neck- Nose:
long nose
bulbous tip

Abdomen- Liver:
cholestatic liver disease

Cardiovascular- Heart:
atrial septal defect
pulmonic stenosis
tetrology of fallot

Head And Neck- Eyes:
posterior embryotoxon

Cardiovascular- Vascular:
hypertension


Clinical features from OMIM:

610205

Human phenotypes related to Alagille Syndrome 2:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631
2 renal insufficiency 32 HP:0000083
3 broad forehead 32 HP:0000337
4 renal tubular acidosis 32 HP:0001947
5 triangular face 32 HP:0000325
6 cholestasis 32 HP:0001396
7 peripheral pulmonary artery stenosis 32 HP:0004969

Drugs & Therapeutics for Alagille Syndrome 2

Drugs for Alagille Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
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 Alpha 1-Antitrypsin
10 Protein C Inhibitor
11 Hematinics
12 HIV Protease Inhibitors
13
protease inhibitors
14 Serine Proteinase Inhibitors
15 Trypsin Inhibitors
16 serine Nutraceutical

Interventional clinical trials:


id 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 Subjects 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 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
7 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
8 FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Enrolling by invitation NCT02922751

Search NIH Clinical Center for Alagille Syndrome 2

Genetic Tests for Alagille Syndrome 2

Genetic tests related to Alagille Syndrome 2:

id Genetic test Affiliating Genes
1 Alagille Syndrome 2 29

Anatomical Context for Alagille Syndrome 2

MalaCards organs/tissues related to Alagille Syndrome 2:

39
Liver, Kidney, Eye

Publications for Alagille Syndrome 2

Variations for Alagille Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Alagille Syndrome 2:

71
id Symbol AA change Variation ID SNP ID
1 NOTCH2 p.Cys444Tyr VAR_029361 rs111033632

ClinVar genetic disease variations for Alagille Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH2 NM_024408.3(NOTCH2): c.5930-1G> A single nucleotide variant Pathogenic rs312262798 GRCh37 Chromosome 1, 120460386: 120460386
2 NOTCH2 NM_024408.3(NOTCH2): c.1331G> A (p.Cys444Tyr) single nucleotide variant Pathogenic rs111033632 GRCh37 Chromosome 1, 120510178: 120510178
3 NOTCH2 NM_024408.3(NOTCH2): c.1117T> C (p.Cys373Arg) single nucleotide variant Pathogenic rs312262793 GRCh37 Chromosome 1, 120510847: 120510847
4 NOTCH2 NM_024408.3(NOTCH2): c.1147C> T (p.Pro383Ser) single nucleotide variant Pathogenic rs312262795 GRCh37 Chromosome 1, 120510817: 120510817
5 NOTCH2 NM_024408.3(NOTCH2): c.1180C> T (p.Pro394Ser) single nucleotide variant Pathogenic rs312262794 GRCh37 Chromosome 1, 120510784: 120510784
6 NOTCH2 NM_024408.3(NOTCH2): c.1438T> C (p.Cys480Arg) single nucleotide variant Pathogenic rs312262799 GRCh37 Chromosome 1, 120510071: 120510071
7 NOTCH2 NM_024408.3(NOTCH2): c.2566_2567delAG (p.Ser856Leufs) deletion Pathogenic rs312262800 GRCh37 Chromosome 1, 120491662: 120491663
8 NOTCH2 NM_024408.3(NOTCH2): c.5857C> T (p.Arg1953Cys) single nucleotide variant Pathogenic rs312262796 GRCh37 Chromosome 1, 120461101: 120461101
9 NOTCH2 NM_024408.3(NOTCH2): c.5858G> A (p.Arg1953His) single nucleotide variant Pathogenic rs312262797 GRCh37 Chromosome 1, 120461100: 120461100
10 NOTCH2 NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter) single nucleotide variant Pathogenic rs312262801 GRCh37 Chromosome 1, 120460308: 120460308

Expression for Alagille Syndrome 2

Search GEO for disease gene expression data for Alagille Syndrome 2.

Pathways for Alagille Syndrome 2

GO Terms for Alagille Syndrome 2

Sources for Alagille Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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