Gene Role Disease OMIM Descriptions Sources
KRT1 causing EHK 113800 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. [read more] 1381288
1380725
7512983
7507151
7507152
9856846
10232403
10844506
10688370
11531804
12406348
KRT1 causing IHCM 146590 The disease is caused by mutations affecting the gene represented in this entry. A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. [read more] 11286616
KRT1 causing NEPPK 600962 The disease is caused by mutations affecting the gene represented in this entry. A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists. [read more] 11286630
7528239
KRT10 causing CRIE 609165 The disease is caused by mutations affecting the gene represented in this entry. A rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis. [read more] 20798280
KRT10 causing EHK 113800 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. [read more] 7507150
1381287
1380725
7508181
7512983
7507152
10201536
KRT13 causing WSN 193900 The disease is caused by mutations affecting the gene represented in this entry. Rare autosomal dominant disorder which predominantly affects non-cornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. [read more] 7493031
10561721
11379896
14600690
KRT14 causing DPR 125595 The disease is caused by mutations affecting the gene represented in this entry. A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. [read more] 16960809
KRT16 causing PC1 167200 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. [read more] 7539673
10606845
10521820
10839714
11359398
11886499
KRT16 causing UPVN 144200 The disease is caused by mutations affecting the gene represented in this entry. UPVN is characterized by a localized epidermolytic hyperkeratosis in parts of the right palm and the right sole, following the lines of Blaschko. [read more] 10844556
KRT17 causing PC2 167210 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth. [read more] 16625196
7539673
9008238
9767294
10571744
11348474
11886499
11874497
15102078
15795125
16620218