Details of KRT10 gene in Homo sapiens
Disease |
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| Disease |
OMIM id |
| Epidermolytic hyperkeratosis (EHK) [MIM:113800]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
113800 |
Ichthyosis annular epidermolytic (AEI) [MIM:607602]: A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months. Note=The disease is caused by mutations affecting the gene represented in this entry. |
607602 |
Erythroderma, ichthyosiform, congenital reticular (CRIE) [MIM:609165]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
609165 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin physiology, Abnormality of the hair, Abnormality of the hand, Abnormality of the integument, Abnormality of the nail, Abnormality of the palm, Abnormality of the plantar skin of foot, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the upper limb, All, Autosomal dominant inheritance, Congenital bullous ichthyosiform erythroderma, Congenital ichthyosiform erythroderma, Epidermal thickening, Erythema, Erythroderma, Generalized abnormality of skin, Hyperkeratosis, Ichthyosiform abnormality of the skin, Inflammatory abnormality of the skin, Mode of inheritance, Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Phenotypic abnormality, Plantar hyperkeratosis, Regional abnormality of skin, Thickened skin, Vascular skin abnormality.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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