Ichthyosis and erythrokeratodermaGene: KRT9
Comment when marking as ready: 1 Green review plus >3 KRT9 variants listed in OMIM for palmoplantar keratoderma, epidermolytic (EPPK, OMIM:144200). Not yet a confirmed DD gene for OMIM:144200 but plenty of literature linking KRT9 and the EPPK disorder.
Created: 5 Jan 2017, 2:01 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 5 Jan 2017, 1:56 p.m.
Digital mutilation or constriction is rare.
Created: 16 Nov 2015, 7:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diffuse keratoderma; Diffuse keratoderma with knuckle pads; diffuse keratoderma with digital mutilation
gene: KRT9 was added gene: KRT9 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT9 were set to 7511021; 12838553; 21410681; 7512862; 7532199 Phenotypes for gene: KRT9 were set to Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK)