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Browse result for Autosomal recessive congenital ichthyosis

※ introduction

    Ichthyosis (also named fish scale disease) is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes from the Greek ?¦Ö¦È?? ichthys, literally 'fish', since dry, scaly skin is the defining feature of all forms of ichthyosis. The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases.

Reference
Wiki: Autosomal recessive congenital ichthyosis



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04537P227357051
TGM1
Protein-glutamine gamma-glutamyltransferase K )
Homo sapiens