LYZ, lysozyme, 4069

N. diseases: 178; N. variants: 8
Disease: Amyloidosis, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.050 GeneticVariation disease BEFREE Hereditary amyloidosis with a variant lysozyme of p.Trp82Arg presented with dominant kidney involvement was firstly reported in a Chinese family. 31395023 2019
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.050 GeneticVariation disease BEFREE Lysozyme amyloidosis (ALys) is a rare form of hereditary amyloidosis that typically manifests with renal impairment, gastrointestinal (GI) symptoms, and sicca syndrome, whereas cardiac involvement is exceedingly rare and neuropathy has not been reported. 28049649 2017
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.050 Biomarker disease BEFREE Lysozyme amyloidosis (ALys) is a rare, systemic non neuropathic hereditary amyloidosis with a heterogenous phenotype including gastrointestinal, renal and hepatic symptoms. 25217048 2014
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.050 GeneticVariation disease BEFREE A non-natural variant of human lysozyme (I59T) mimics the in vitro behaviour of the I56T variant that is responsible for a form of familial amyloidosis. 20382744 2010
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.050 GeneticVariation disease BEFREE We report a novel mutation (W64R) of the lysozyme that is associated with hereditary amyloidosis and prominent nephropathy. 11849445 2002