Details of Disease

General Information of Disease (ID: DIS9DPU8)

• Disease Name: Alagille syndrome
• Synonyms: Cardiovertebral syndrome; Watson-Miller syndrome; Hepatofacioneurocardiovertebral syndrome; Watson Alagille syndrome; paucity of interlobular bile ducts; hepatic ductular hypoplasia; Alagille syndrome; syndromic bile duct paucity; Alagille-Watson syndrome; Arteriohepatic dysplasia
• Disease Class: LB20: Gallbladder/bile ducts/liver structural developmental anomaly
• Definition: Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DIS6SVEE: Syndromic disease
  DISMT2VZ: Cardiogenetic disease
  DISNBDRC: Biliary tract disorder
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DIS9DPU8: Alagille syndrome
• ICD Code: ICD-11: ICD-11: LB20.0Y
• Disease Identifiers:
  MONDO ID: MONDO_0007318
  MESH ID: D016738
  UMLS CUI: C0085280
  MedGen ID: 39014
  Orphanet ID: 52
  SNOMED CT ID: 31742004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Maralixibat	DMJCF1O	Approved	Small molecular drug	[1]
Odevixibat	DMYN391	Approved	Small molecular drug	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC6A3	TTVBI8W	Limited	Genetic Variation	[3]
ABCB11	TTUXCAF	moderate	Genetic Variation	[4]
NOTCH2	TT82FVD	Moderate	Autosomal dominant	[5]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NOTCH2	OTQ3Y9PA	Moderate	Autosomal dominant	[5]
ATP8B1	OTALGS63	Strong	Biomarker	[6]
OSR1	OTB19LEQ	Strong	Biomarker	[7]
CTSZ	OTSCX2LL	Definitive	Altered Expression	[8]

References

• [1] ClinicalTrials.gov (NCT04729751) A Study to Evaluate the Safety and Tolerability of Maralixibat in Infant Participants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome (ALGS). (RISE). U.S. National Institutes of Health.
• [2] ClinicalTrials.gov (NCT04674761) Efficacy and Safety of Odevixibat in Patients With Alagille Syndrome (ASSERT). U.S. National Institutes of Health.
• [3] The association between the SLC6A3 VNTR 9-repeat allele and alcoholism-a meta-analysis.Alcohol Clin Exp Res. 2011 Sep;35(9):1625-34. doi: 10.1111/j.1530-0277.2011.01509.x. Epub 2011 May 9.
• [4] Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.BMC Med Genet. 2019 Jul 11;20(1):123. doi: 10.1186/s12881-019-0857-0.
• [5] NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul;79(1):169-73. doi: 10.1086/505332. Epub 2006 May 10.
• [6] Prenatal molecular diagnosis of inherited cholestatic diseases.J Pediatr Gastroenterol Nutr. 2007 Apr;44(4):453-8. doi: 10.1097/MPG.0b013e318036a569.
• [7] Child and adolescent traumatic brain injury: correlates of disruptive behaviour disorders.Brain Inj. 1998 Jan;12(1):41-52. doi: 10.1080/026990598122845.
• [8] Increased expression and altered localization of cathepsin Z are associated with progression to jaundice stage in primary biliary cholangitis.Sci Rep. 2018 Aug 7;8(1):11808. doi: 10.1038/s41598-018-30146-w.