Details of Disease

General Information of Disease (ID: DISMIOMG)

• Disease Name: ALG9-associated autosomal dominant polycystic kidney disease
• Synonyms: ALG9-associated ADPKD; ALG9 autosomal dominant polycystic kidney disease; ALG9 related autosomal dominant polycystic kidney disease; ALG9-associated autosomal dominant polycystic kidney disease; autosomal dominant polycystic kidney disease caused by mutation in ALG9
• Definition: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.
• Disease Hierarchy:
  DISBHWUI: Autosomal dominant polycystic kidney disease
  DISMIOMG: ALG9-associated autosomal dominant polycystic kidney disease

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALG9	OT5V9PIR	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.