List of genes mutated in cutaneous conditions
List of genes mutated in cutaneous conditions
The following is a list of genes mutated in cutaneous conditions. These genes are associated with various skin disorders and cutaneous conditions.
List of Genes[edit | edit source]
- ABCA12 - Mutations in this gene are associated with Harlequin-type ichthyosis.
- ATP2A2 - Mutations in this gene cause Darier's disease.
- COL7A1 - Mutations in this gene are linked to dystrophic epidermolysis bullosa.
- DSP - Mutations in this gene are associated with palmoplantar keratoderma and woolly hair syndrome.
- EDA - Mutations in this gene cause anhidrotic ectodermal dysplasia.
- FGFR3 - Mutations in this gene are linked to seborrheic keratosis and epidermal nevus.
- FLG - Mutations in this gene are associated with ichthyosis vulgaris and atopic dermatitis.
- GJB2 - Mutations in this gene cause keratitis-ichthyosis-deafness syndrome.
- HR - Mutations in this gene are linked to atrichia with papular lesions.
- KRT1 - Mutations in this gene are associated with epidermolytic hyperkeratosis.
- KRT5 - Mutations in this gene cause epidermolysis bullosa simplex.
- LAMA3 - Mutations in this gene are linked to junctional epidermolysis bullosa.
- LAMB3 - Mutations in this gene are associated with junctional epidermolysis bullosa.
- LAMC2 - Mutations in this gene cause junctional epidermolysis bullosa.
- PADI3 - Mutations in this gene are linked to uncombable hair syndrome.
- PKP1 - Mutations in this gene are associated with ectodermal dysplasia-skin fragility syndrome.
- SPINK5 - Mutations in this gene cause Netherton syndrome.
- TGM1 - Mutations in this gene are linked to lamellar ichthyosis.
- TP63 - Mutations in this gene are associated with ectrodactyly-ectodermal dysplasia-cleft syndrome.
- TYR - Mutations in this gene cause oculocutaneous albinism.
Related Pages[edit | edit source]
- List of cutaneous conditions
- List of cutaneous conditions caused by mutations in keratins
- List of cutaneous conditions caused by problems with junctional proteins
- List of cutaneous conditions caused by problems with basement membrane zone proteins
- List of cutaneous conditions caused by mutations in collagens
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