Ichthyosis and erythrokeratodermaGene: DSP
Comment when marking as ready: 1 Green review plus >3 variants in unrelated families reported for various OMIM disorders featuring keratodermas including (OMIM:612908, OMIM:615821, OMIM:605676). Prior genetic testing of desmosomal genes (which includes DSP) is required for 'Striate keratoderma with woolly hair'. Not currently a confirmed DD gene for any disorders but plenty of literature linking DSP to palmoplantar keratoderma.
Created: 5 Jan 2017, 1:55 p.m.
Comment on mode of inheritance: -Keratosis palmoplantaris striata II (PPKS2, OMIM:612908) is caused by heterozygous mutations in DSP.
-Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (OMIM:615821) is caused by heterozygous mutations in DSP.
-Cardiomyopathy, dilated, with woolly hair and keratoderma (OMIM:605676) is caused by homozygous mutations in DSP.
Created: 5 Jan 2017, 1:41 p.m.
Can be heterozygous, compound heterozygous and homozygous
Created: 16 Nov 2015, 7:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Striate keratoderma with woolly hair and cardiomyopathy; striate keratoderma; diffuse keratoderma; lethal acantholytic epidermolysis bullosa; skin fragility, alopecia, follicular hyperkeratoses and keratoderma; oligodontia or hypodontia
gene: DSP was added gene: DSP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DSP were set to 22795705; 11841538; 16628197; 19924139; 11063735; 20940358; 26303123; 10594734; 20738328; 16175511; 25516398 Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676