PRTN3, proteinase 3, 5657

N. diseases: 215; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948402
Disease: Hypertrophic pachymeningitis
Hypertrophic pachymeningitis
0.030 Biomarker disease BEFREE Here, we report the first case of adolescent PR3-ANCA-positive HP successfully treated with immunosuppressive therapy. 29703022 2018
CUI: C0948402
Disease: Hypertrophic pachymeningitis
Hypertrophic pachymeningitis
0.030 Biomarker disease BEFREE The frequencies of myeloperoxidase (MPO)-ANCA and proteinase 3-ANCA positivity in patients with HP were equivalent, while MPO-ANCA positivity was obviously dominant in patients without HP. 28217942 2017
CUI: C0948402
Disease: Hypertrophic pachymeningitis
Hypertrophic pachymeningitis
0.030 Biomarker disease BEFREE They were characterized as follows: (1) disease onset with initial signs/symptoms due to intractable otitis media with effusion or granulation, which did not respond to ordinary treatments such as antibiotics and insertion of tympanic ventilation tubes, followed by progressive hearing loss; (2) predominantly female (73%) and older (median age: 68 years); (3) predominantly myeloperoxidase (MPO)-ANCA-positive (60%), followed by proteinase 3 (PR3)-ANCA-positive (19%) and both ANCAs-negative (16%); (4) frequently observed accompanying facial palsy (36%) and hypertrophic pachymeningitis (28%); and (5) disease often involving lung (35%) and kidney (26%) lesions. 27166750 2017