DPYSL5, dihydropyrimidinase like 5, 56896

N. diseases: 57; N. variants: 3
Disease: Papilledema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030353
Disease: Papilledema
Papilledema 		0.020 Biomarker disease BEFREE The combination of retinitis, vitritis, and optic disc edema without optic nerve enhancement should prompt serologic testing for CRMP5 IgG to expedite vision-sparing immunosuppressant therapy and a targeted search for a systemic cancer. 31676123 2020
CUI: C0030353
Disease: Papilledema
Papilledema 		0.020 GeneticVariation disease BEFREE We describe a case of a 57-year-old woman with bilateral vision loss with the characteristic features of CRMP-5 PON including bilateral optic disc edema and vitreous cells. 27759576 2017