KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of 5 keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17) featuring painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis, and often oral leukokeratosis. 31777952 2020
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 Biomarker disease BEFREE We reviewed the relevant literature with a particular focus on the Krt16 null mouse, which spontaneously develops footpad lesions that mimic several aspects of PC-associated PPK. 31021398 2020
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of 5 keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). 31823354 2020
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures. 30859684 2019
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 Biomarker disease BEFREE Heterozygous mutations in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 and KRT17 have been reported as a cause of PC. 30307612 2019
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE Missense mutations at the KRT16 locus can cause pachyonychia congenita (PC, OMIM:167200) or focal non-epidermolytic palmoplantar keratoderma (FNEPPK, OMIM:613000), which each entail painful calluses on palmar and plantar skin. 31220272 2019
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. 29406601 2018
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE Mice genetically null for keratin 16 (Krt16), one of the genes mutated in pachyonychia congenita, develop pachyonychia congenita-like PPK. 29277538 2018
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 Biomarker disease BEFREE The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients. 27183391 2016
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE This study extends the KRT16 mutation spectrum and adds new information on the clinical and genetic diversity of PC. 24357266 2014
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE A new KRT16 mutation associated with a phenotype of pachyonychia congenita. 24118415 2013
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 Biomarker disease BEFREE Our results uncover a role for Krt16 in regulating epithelial inflammation that is relevant to genodermatoses, psoriasis, and cancer and suggest a avenue for the therapeutic management of PC and related disorders. 24218583 2013
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE Seven patients with PC in the IPCRR were confirmed to have transgrediens lesions on the dorsal feet (six KRT6A mutations; one KRT16 mutation). 21790523 2012
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE Phenotypic differences between patients with KRT6A and KRT16 mutations support adoption of a new classification system based on the mutant gene (PC-6a, PC-16) rather than the PC-1 nomenclature. 22098151 2012
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE This observation suggests that coinheritance of mutations in KRT16 and FLG may aggravate the PC phenotype and that FLG could serve as a genetic modifier in PC. 19785597 2009
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE The patient's clinical presentation and history were consistent with pachyonychia congenita (PC), an autosomal dominant genodermatosis caused by mutations in the genes for keratin 6, K6a and K6b; keratin 16, K16; and keratin 17, K17. 20099620 2009
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease LHGDN A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. 17719747 2007
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 GeneticVariation disease BEFREE Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. 11359398 2001
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 Biomarker disease MGD
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
0.600 Biomarker disease CTD_human