MCID: ALG016
MIFTS: 27

Alagille Syndrome 2

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

Aliases & Classifications for Alagille Syndrome 2

MalaCards integrated aliases for Alagille Syndrome 2:

Name: Alagille Syndrome 2 57 75 29 13 6 73
Algs2 57 75
Syndromic Bile Duct Paucity Due to a Notch2 Point Mutation 59
Alagille-Watson Syndrome Due to a Notch2 Point Mutation 59
Arteriohepatic Dysplasia Due to a Notch2 Point Mutation 59
Alagille Syndrome Due to a Notch2 Point Mutation 59
Cholestasis with Peripheral Pulmonary Stenosis 75
Alagille Syndrome, Type 2 40
Alagille-Watson Syndrome 75
Algs 75
Aws 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

32
alagille syndrome 2:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Alagille Syndrome 2

UniProtKB/Swiss-Prot : 75 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 glycogen storage disease ixc. An important gene associated with Alagille Syndrome 2 is NOTCH2 (Notch 2). Affiliated tissues include liver, kidney and eye, and related phenotypes are hypertension and renal insufficiency

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 11.9
2 glycogen storage disease ixc 10.9
3 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
4 aplastic anemia 10.1

Symptoms & Phenotypes for Alagille Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 renal insufficiency 32 HP:0000083
3 proteinuria 32 HP:0000093
4 atrial septal defect 32 HP:0001631
5 cholestatic liver disease 32 HP:0002611
6 broad forehead 32 HP:0000337
7 hematuria 32 HP:0000790
8 posterior embryotoxon 32 HP:0000627
9 tetralogy of fallot 32 HP:0001636
10 renal hypoplasia 32 HP:0000089
11 pointed chin 32 HP:0000307
12 pulmonic stenosis 32 HP:0001642
13 peripheral pulmonary artery stenosis 32 HP:0004969
14 triangular face 32 HP:0000325
15 long nose 32 HP:0003189
16 renal cyst 32 HP:0000107
17 renal tubular acidosis 32 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 29 NOTCH2

Anatomical Context for Alagille Syndrome 2

MalaCards organs/tissues related to Alagille Syndrome 2:

41
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:

75
# Symbol AA change Variation ID SNP ID
1 NOTCH2 p.Cys444Tyr VAR_029361 rs111033632

ClinVar genetic disease variations for Alagille Syndrome 2:

6
(show all 26)
# 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.5930-1G> A single nucleotide variant Pathogenic rs312262798 GRCh38 Chromosome 1, 119917763: 119917763
3 NOTCH2 NM_024408.3(NOTCH2): c.1331G> A (p.Cys444Tyr) single nucleotide variant Pathogenic rs111033632 GRCh37 Chromosome 1, 120510178: 120510178
4 NOTCH2 NM_024408.3(NOTCH2): c.1331G> A (p.Cys444Tyr) single nucleotide variant Pathogenic rs111033632 GRCh38 Chromosome 1, 119967555: 119967555
5 NOTCH2 NM_024408.3(NOTCH2): c.1117T> C (p.Cys373Arg) single nucleotide variant Pathogenic rs312262793 GRCh37 Chromosome 1, 120510847: 120510847
6 NOTCH2 NM_024408.3(NOTCH2): c.1117T> C (p.Cys373Arg) single nucleotide variant Pathogenic rs312262793 GRCh38 Chromosome 1, 119968224: 119968224
7 NOTCH2 NM_024408.3(NOTCH2): c.1147C> T (p.Pro383Ser) single nucleotide variant Pathogenic rs312262795 GRCh37 Chromosome 1, 120510817: 120510817
8 NOTCH2 NM_024408.3(NOTCH2): c.1147C> T (p.Pro383Ser) single nucleotide variant Pathogenic rs312262795 GRCh38 Chromosome 1, 119968194: 119968194
9 NOTCH2 NM_024408.3(NOTCH2): c.1180C> T (p.Pro394Ser) single nucleotide variant Pathogenic rs312262794 GRCh37 Chromosome 1, 120510784: 120510784
10 NOTCH2 NM_024408.3(NOTCH2): c.1180C> T (p.Pro394Ser) single nucleotide variant Pathogenic rs312262794 GRCh38 Chromosome 1, 119968161: 119968161
11 NOTCH2 NM_024408.3(NOTCH2): c.1438T> C (p.Cys480Arg) single nucleotide variant Pathogenic rs312262799 GRCh37 Chromosome 1, 120510071: 120510071
12 NOTCH2 NM_024408.3(NOTCH2): c.1438T> C (p.Cys480Arg) single nucleotide variant Pathogenic rs312262799 GRCh38 Chromosome 1, 119967448: 119967448
13 NOTCH2 NM_024408.3(NOTCH2): c.2566_2567delAG (p.Ser856Leufs) deletion Pathogenic rs312262800 GRCh37 Chromosome 1, 120491662: 120491663
14 NOTCH2 NM_024408.3(NOTCH2): c.2566_2567delAG (p.Ser856Leufs) deletion Pathogenic rs312262800 GRCh38 Chromosome 1, 119949039: 119949040
15 NOTCH2 NM_024408.3(NOTCH2): c.5858G> A (p.Arg1953His) single nucleotide variant Pathogenic rs312262797 GRCh37 Chromosome 1, 120461100: 120461100
16 NOTCH2 NM_024408.3(NOTCH2): c.5858G> A (p.Arg1953His) single nucleotide variant Pathogenic rs312262797 GRCh38 Chromosome 1, 119918477: 119918477
17 NOTCH2 NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter) single nucleotide variant Pathogenic rs312262801 GRCh37 Chromosome 1, 120460308: 120460308
18 NOTCH2 NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter) single nucleotide variant Pathogenic rs312262801 GRCh38 Chromosome 1, 119917685: 119917685
19 NOTCH2 NM_024408.3(NOTCH2): c.3246delAinsAA (p.Ala1083Serfs) indel Pathogenic GRCh37 Chromosome 1, 120480571: 120480571
20 NOTCH2 NM_024408.3(NOTCH2): c.3246delAinsAA (p.Ala1083Serfs) indel Pathogenic GRCh38 Chromosome 1, 119937948: 119937948
21 NOTCH2 NM_024408.3(NOTCH2): c.1021delGinsGG (p.Asp341Glyfs) indel Pathogenic GRCh37 Chromosome 1, 120512221: 120512221
22 NOTCH2 NM_024408.3(NOTCH2): c.1021delGinsGG (p.Asp341Glyfs) indel Pathogenic GRCh38 Chromosome 1, 119969598: 119969598
23 NOTCH2 NM_024408.3(NOTCH2): c.5274G> A (p.Trp1758Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 120464372: 120464372
24 NOTCH2 NM_024408.3(NOTCH2): c.5274G> A (p.Trp1758Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 119921749: 119921749
25 NOTCH2 NM_024408.3(NOTCH2): c.1835delAinsAA (p.Tyr612Terfs) indel Pathogenic GRCh37 Chromosome 1, 120506277: 120506277
26 NOTCH2 NM_024408.3(NOTCH2): c.1835delAinsAA (p.Tyr612Terfs) indel Pathogenic GRCh38 Chromosome 1, 119963654: 119963654

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

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74 UMLS via Orphanet
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