Details of Disease

General Information of Disease (ID: DISXZJ1T)

• Disease Name: Autosomal dominant vitreoretinochoroidopathy
• Synonyms: vitreoretinochoroidopathy with microcornea, glaucoma, and cataract; VRCP autosomal dominant; vitreoretinochoroidopathy; microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma; vitreoretinochoroidopathy dominant; vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos; vitreoretinochoroidopathy, autosomal dominant; VRCP; ADVIRC
• Definition: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.
• Disease Hierarchy:
  DISDTL6C: BEST1-related vitreoretinochoroidopathy
  DISXZJ1T: Autosomal dominant vitreoretinochoroidopathy
• Disease Identifiers:
  MONDO ID: MONDO_0008662
  MESH ID: C536352
  UMLS CUI: C3888099
  OMIM ID: 193220
  MedGen ID: 854768
  Orphanet ID: 3086
  SNOMED CT ID: 711162004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARSF	OTC0L12N	Strong	Genetic Variation	[1]
BEST1	OTWHE1ZC	Strong	Autosomal dominant	[2]
PSMD4	OTH1VZTM	Strong	Genetic Variation	[1]
SRSF5	OTC5WP98	Strong	Biomarker	[1]
SRSF6	OTGLOSYE	Strong	Biomarker	[1]

References

• [1] ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet. 2009 Sep;46(9):620-5. doi: 10.1136/jmg.2008.059881. Epub 2008 Jul 8.
• [2] PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.