KRT2, keratin 2, 3849

N. diseases: 18; N. variants: 13
Disease: Congenital reticular ichthyosiform erythroderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665704
Disease: Congenital reticular ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma 		0.010 GeneticVariation disease BEFREE Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. 26581228 2016