KRT18, keratin 18, 3875

N. diseases: 151; N. variants: 5
Disease: Klinefelter's syndrome - male with more than two X chromosomes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		0.010 Biomarker disease BEFREE Sertoli cell dysfunction was investigated in a subgroup using a three-stage immunoperoxidase technique for detection of cytokeratin-18 (CK-18).The prevalence of THF was 13.4%. uTHF was found in 11 men (2.9%), the pattern was bilateral in four while other four had bTHF in the other testis. pTHF was detected in eight cases (2.1%), and except for one case with Klinefelter's syndrome, pTHF was in all cases occurring unilaterally. bTHF was detected in 32 cases (8.4%), bilaterally in 17 (53%). 28061524 2017