ALGS2
MCID: ALG016
MIFTS: 30

Alagille Syndrome 2 (ALGS2)

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

Aliases & Classifications for Alagille Syndrome 2

MalaCards integrated aliases for Alagille Syndrome 2:

Name: Alagille Syndrome 2 58 76 30 13 6 74
Algs2 58 76
Syndromic Bile Duct Paucity Due to a Notch2 Point Mutation 60
Alagille-Watson Syndrome Due to a Notch2 Point Mutation 60
Arteriohepatic Dysplasia Due to a Notch2 Point Mutation 60
Alagille Syndrome Due to a Notch2 Point Mutation 60
Cholestasis with Peripheral Pulmonary Stenosis 76
Alagille Syndrome, Type 2 41
Alagille-Watson Syndrome 76
Algs 76
Aws 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

33
alagille syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Alagille Syndrome 2

UniProtKB/Swiss-Prot : 76 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 Receptor 2). Affiliated tissues include liver, kidney and prostate, 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:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 12.1
2 glycogen storage disease ixc 11.1
3 aplastic anemia 10.5
4 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
5 watson syndrome 10.2
6 withdrawal disorder 10.1
7 pelger-huet anomaly 10.0
8 autoimmune lymphoproliferative syndrome, type v 10.0
9 hepatitis 10.0
10 spinal cord injury 10.0
11 lymphoproliferative syndrome 10.0
12 pure red-cell aplasia 10.0
13 macrophagic myofasciitis 10.0
14 multiple sclerosis 10.0
15 prostate cancer 10.0
16 prostate cancer, hereditary, 8 10.0
17 prostate cancer, hereditary, 6 10.0
18 blood group, junior system 10.0
19 blood group, kidd system 9.9
20 radin blood group antigen 9.9
21 burkitt lymphoma 9.9
22 colorectal cancer 9.9
23 hemifacial microsomia with radial defects 9.9
24 diaphragmatic hernia, congenital 9.9
25 huntington disease 9.9
26 hemifacial microsomia 9.9
27 ovarian cancer 9.9
28 craniosynostosis with fibular aplasia 9.9
29 myasthenia gravis 9.9
30 retinitis pigmentosa 9.9
31 coffin-lowry syndrome 9.9
32 tropical calcific pancreatitis 9.9
33 deficiency anemia 9.9
34 bronchopulmonary dysplasia 9.9
35 intermittent claudication 9.9
36 pemphigus foliaceus 9.9
37 thalassemia 9.9
38 lymphoma 9.9
39 cardiac arrest 9.9
40 klippel-feil syndrome 9.9
41 japanese encephalitis 9.9
42 borderline personality disorder 9.9
43 personality disorder 9.9
44 turner syndrome 9.9
45 scabies 9.9
46 craniofacial microsomia 9.9
47 hypoadrenalism 9.9
48 myasthenia gravis congenital 9.9
49 polymyositis 9.9
50 aids wasting syndrome 9.9

Graphical network of the top 20 diseases related to Alagille Syndrome 2:



Diseases related to Alagille Syndrome 2

Symptoms & Phenotypes for Alagille Syndrome 2

Human phenotypes related to Alagille Syndrome 2:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 renal insufficiency 33 HP:0000083
3 proteinuria 33 HP:0000093
4 atrial septal defect 33 HP:0001631
5 cholestatic liver disease 33 HP:0002611
6 broad forehead 33 HP:0000337
7 hematuria 33 HP:0000790
8 posterior embryotoxon 33 HP:0000627
9 tetralogy of fallot 33 HP:0001636
10 renal hypoplasia 33 HP:0000089
11 pointed chin 33 HP:0000307
12 pulmonic stenosis 33 HP:0001642
13 peripheral pulmonary artery stenosis 33 HP:0004969
14 triangular face 33 HP:0000325
15 long nose 33 HP:0003189
16 renal cyst 33 HP:0000107
17 renal tubular acidosis 33 HP:0001947

Symptoms via clinical synopsis from OMIM:

58
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

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 30 NOTCH2

Anatomical Context for Alagille Syndrome 2

MalaCards organs/tissues related to Alagille Syndrome 2:

42
Liver, Kidney, Prostate, Eye, Bone, Spinal Cord, Bone Marrow

Publications for Alagille Syndrome 2

Articles related to Alagille Syndrome 2:

# Title Authors Year
1
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. ( 16773578 )
2006
2
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:

76
# 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.2566_2567delAG (p.Ser856Leufs) deletion Pathogenic rs312262800 GRCh37 Chromosome 1, 120491662: 120491663
6 NOTCH2 NM_024408.3(NOTCH2): c.1117T> C (p.Cys373Arg) single nucleotide variant Pathogenic rs312262793 GRCh37 Chromosome 1, 120510847: 120510847
7 NOTCH2 NM_024408.3(NOTCH2): c.1117T> C (p.Cys373Arg) single nucleotide variant Pathogenic rs312262793 GRCh38 Chromosome 1, 119968224: 119968224
8 NOTCH2 NM_024408.3(NOTCH2): c.1147C> T (p.Pro383Ser) single nucleotide variant Pathogenic rs312262795 GRCh37 Chromosome 1, 120510817: 120510817
9 NOTCH2 NM_024408.3(NOTCH2): c.1147C> T (p.Pro383Ser) single nucleotide variant Pathogenic rs312262795 GRCh38 Chromosome 1, 119968194: 119968194
10 NOTCH2 NM_024408.3(NOTCH2): c.1180C> T (p.Pro394Ser) single nucleotide variant Pathogenic rs312262794 GRCh37 Chromosome 1, 120510784: 120510784
11 NOTCH2 NM_024408.3(NOTCH2): c.1180C> T (p.Pro394Ser) single nucleotide variant Pathogenic rs312262794 GRCh38 Chromosome 1, 119968161: 119968161
12 NOTCH2 NM_024408.3(NOTCH2): c.1438T> C (p.Cys480Arg) single nucleotide variant Pathogenic rs312262799 GRCh37 Chromosome 1, 120510071: 120510071
13 NOTCH2 NM_024408.3(NOTCH2): c.1438T> C (p.Cys480Arg) single nucleotide variant Pathogenic rs312262799 GRCh38 Chromosome 1, 119967448: 119967448
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.5857C> T (p.Arg1953Cys) single nucleotide variant Uncertain significance rs312262796 GRCh37 Chromosome 1, 120461101: 120461101
16 NOTCH2 NM_024408.3(NOTCH2): c.5857C> T (p.Arg1953Cys) single nucleotide variant Uncertain significance rs312262796 GRCh38 Chromosome 1, 119918478: 119918478
17 NOTCH2 NM_024408.3(NOTCH2): c.5858G> A (p.Arg1953His) single nucleotide variant Uncertain significance rs312262797 GRCh37 Chromosome 1, 120461100: 120461100
18 NOTCH2 NM_024408.3(NOTCH2): c.5858G> A (p.Arg1953His) single nucleotide variant Uncertain significance rs312262797 GRCh38 Chromosome 1, 119918477: 119918477
19 NOTCH2 NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter) single nucleotide variant Pathogenic rs312262801 GRCh37 Chromosome 1, 120460308: 120460308
20 NOTCH2 NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter) single nucleotide variant Pathogenic rs312262801 GRCh38 Chromosome 1, 119917685: 119917685
21 NOTCH2 NM_024408.3(NOTCH2): c.3206G> A (p.Arg1069Gln) single nucleotide variant Uncertain significance rs146014987 GRCh38 Chromosome 1, 119937988: 119937988
22 NOTCH2 NM_024408.3(NOTCH2): c.3206G> A (p.Arg1069Gln) single nucleotide variant Uncertain significance rs146014987 GRCh37 Chromosome 1, 120480611: 120480611
23 NOTCH2 NM_024408.3(NOTCH2): c.6893G> A (p.Arg2298Gln) single nucleotide variant Uncertain significance rs140832430 GRCh37 Chromosome 1, 120458452: 120458452
24 NOTCH2 NM_024408.3(NOTCH2): c.6893G> A (p.Arg2298Gln) single nucleotide variant Uncertain significance rs140832430 GRCh38 Chromosome 1, 119915829: 119915829
25 NOTCH2 NM_024408.4(NOTCH2): c.5431C> T (p.Gln1811Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 120462900: 120462900
26 NOTCH2 NM_024408.4(NOTCH2): c.5431C> T (p.Gln1811Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 119920277: 119920277

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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75 UMLS via Orphanet
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