DISEASES

Disease-gene associations mined from literature

Human genes for X-linked ichthyosis

X-linked ichthyosis [DOID:1700]

X-linked ichthyosis (XLI) (also known as "Steroid sulfatase deficiency," and "X-linked recessive ichthyosis") is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms.

Synonyms:  X-linked ichthyosis,  DOID:1700,  Xlinked ichthyosis,  X-linked ichthyosis with steryl-sulphatase deficiency,  X-linked placental steryl-sulphatase deficiency ...

Linkouts:  OMIM #1 #2