Details of Disease

General Information of Disease (ID: DISAJ1K0)

Disease Name Wagner disease
Synonyms
WGVRP; Wagner vitreoretinopathy; ERVR; Wagner disease (formerly); Wagner syndrome 1; erosive vitreoretinopathy; hyaloideoretinal Degeneration of Wagner; Wagner vitreoretinal Degeneration; Wagner syndrome type 1; WGN1; VCAN-related vitreoretinopathy; Wagner disease; vitreoretinal degeneration, Wagner type; Wagner syndrome; dominant hyaloideoretinal dystrophy of Wagner
Definition
Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.
Disease Hierarchy
DISVPRKD: Vitreoretinal degeneration
DISAJ1K0: Wagner disease
Disease Identifiers
MONDO ID
MONDO_0007740
MESH ID
C536075
UMLS CUI
C1840452
OMIM ID
143200
MedGen ID
326741
HPO ID
HP:0030673
Orphanet ID
898
SNOMED CT ID
232064001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VCAN OT1O5805 Definitive Autosomal dominant [1]
COL11A1 OTB0DRMS Limited Biomarker [3]
COL2A1 OT5E59C8 Strong Genetic Variation [4]
HAPLN1 OTXWR9TJ Strong Biomarker [5]
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This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
WT1 TTZ8UT4 Strong Biomarker [2]
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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.
2 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.
3 Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.Ophthalmology. 2003 Jan;110(1):70-7. doi: 10.1016/s0161-6420(02)01446-x.
4 Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.Invest Ophthalmol Vis Sci. 2003 Sep;44(9):4035-43. doi: 10.1167/iovs.02-0736.
5 Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3. Genomics. 1999 Apr 15;57(2):219-26. doi: 10.1006/geno.1999.5766.