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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
Reference
Wiki: Autosomal recessive congenital ichthyosis
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD04537 | P22735 | 7051 | TGM1 | Protein-glutamine gamma-glutamyltransferase K ) | Homo sapiens |
