Details of Disease

General Information of Disease (ID: DISVPRKD)

• Disease Name: Vitreoretinal degeneration
• Synonyms: degenerative vitreoretinopathy
• Disease Hierarchy:
  DISLZORV: Inherited vitreoretinopathy
  DISYBOSD: Vitreous syneresis
  DISPN7D2: Inherited neurodegenerative disorder
  DISVPRKD: Vitreoretinal degeneration
• Disease Identifiers:
  MONDO ID: MONDO_0020248
  UMLS CUI: C0344290
  MedGen ID: 87480
  HPO ID: HP:0007773
  SNOMED CT ID: 247182006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCA4	TTLB52K	Limited	CausalMutation	[1]
COL18A1	TT63DI9	Strong	Genetic Variation	[2]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNJ13	OTG1CNND	moderate	Genetic Variation	[3]
CAPN5	OTQ8QM7K	Strong	Biomarker	[4]
NDP	OTGDJ4US	Strong	Genetic Variation	[5]
FZD4	OTGLZIE0	Definitive	Genetic Variation	[6]

References

• [1] Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
• [2] Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.Am J Med Genet A. 2010 Nov;152A(11):2875-9. doi: 10.1002/ajmg.a.33621.
• [3] Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am J Hum Genet. 2008 Jan;82(1):174-80. doi: 10.1016/j.ajhg.2007.08.002.
• [4] Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.Sci Rep. 2019 May 20;9(1):7608. doi: 10.1038/s41598-019-44031-7.
• [5] Wnt-Spectrum Vitreoretinopathy Masquerading as Congenital Toxoplasmosis.Ophthalmic Surg Lasers Imaging Retina. 2018 Jun 1;49(6):446-450. doi: 10.3928/23258160-20180601-10.
• [6] Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.Ophthalmology. 2015 Sep;122(9):1917-23. doi: 10.1016/j.ophtha.2015.05.036. Epub 2015 Jun 26.