ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4732837
Disease: Leptomeningeal enhancement
Leptomeningeal enhancement
0.010 AlteredExpression phenotype BEFREE The first is a 39-year-old man with a history of progressively worsening hearing loss, followed by visual loss, delusions, agitation, ataxia, and musical auditory hallucinations, diffuse leptomeningeal enhancement on MRI with a normal serum angiotensin-converting enzyme (ACE) level but elevated cerebrospinal fluid (CSF) ACE levels, suggesting neurosarcoidosis, was treated with corticosteroids, and underwent successful cochlear implantation. 29166635 2017