MCID: ALG016
MIFTS: 26

Alagille Syndrome 2

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

Aliases & Classifications for Alagille Syndrome 2

MalaCards integrated aliases for Alagille Syndrome 2:

Name: Alagille Syndrome 2 53 71 28 13 69
Algs2 53 71
Syndromic Bile Duct Paucity Due to a Notch2 Point Mutation 55
Alagille-Watson Syndrome Due to a Notch2 Point Mutation 55
Arteriohepatic Dysplasia Due to a Notch2 Point Mutation 55
Alagille Syndrome Due to a Notch2 Point Mutation 55
Cholestasis with Peripheral Pulmonary Stenosis 71
Alagille-Watson Syndrome 71
Algs 71
Aws 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

31
alagille syndrome 2:
Onset and clinical course phenotypic variability
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 algs2, is related to alagille syndrome 1 and watson syndrome, and has symptoms including hypertension, renal insufficiency and proteinuria. An important gene associated with Alagille Syndrome 2 is NOTCH2 (Notch 2). 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

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

# Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 11.8
2 watson syndrome 10.1

Symptoms & Phenotypes for Alagille Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Vascular:
hypertension

Cardiovascular Heart:
atrial septal defect
pulmonic stenosis
tetrology of fallot

Head And Neck Face:
broad forehead
pointed chin

Head And Neck Nose:
long nose
bulbous tip

Genitourinary Kidneys:
renal insufficiency
proteinuria
hematuria
renal tubular acidosis
small kidneys
more
Abdomen Liver:
cholestatic liver disease

Head And Neck Eyes:
posterior embryotoxon


Clinical features from OMIM:

610205

Human phenotypes related to Alagille Syndrome 2:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 renal insufficiency 31 HP:0000083
3 proteinuria 31 HP:0000093
4 atrial septal defect 31 HP:0001631
5 cholestatic liver disease 31 HP:0002611
6 broad forehead 31 HP:0000337
7 hematuria 31 HP:0000790
8 posterior embryotoxon 31 HP:0000627
9 tetralogy of fallot 31 HP:0001636
10 renal hypoplasia 31 HP:0000089
11 cholestasis 31 HP:0001396
12 pointed chin 31 HP:0000307
13 pulmonic stenosis 31 HP:0001642
14 peripheral pulmonary artery stenosis 31 HP:0004969
15 triangular face 31 HP:0000325
16 long nose 31 HP:0003189
17 renal cyst 31 HP:0000107
18 renal tubular acidosis 31 HP:0001947

Drugs & Therapeutics for Alagille Syndrome 2

Search Clinical Trials , NIH Clinical Center for Alagille Syndrome 2

Genetic Tests for Alagille Syndrome 2

Genetic tests related to Alagille Syndrome 2:

# Genetic test Affiliating Genes
1 Alagille Syndrome 2 28 NOTCH2

Anatomical Context for Alagille Syndrome 2

MalaCards organs/tissues related to Alagille Syndrome 2:

38
Liver, Kidney, Eye

Publications for Alagille Syndrome 2

Articles related to Alagille Syndrome 2:

# Title Authors Year
1
Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome. ( 7877009 )
1994

Variations for Alagille Syndrome 2

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

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

ClinVar genetic disease variations for Alagille Syndrome 2:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....