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X-linked ichthyosis
Summary
- Synonym
-
- X-linked ichthyosis with steryl-sulphatase deficiency
- X-linked placental steryl-sulphatase deficiency
- X-linked recessive ichthyosis
- Definition
- An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
- Super Class
- X-linked recessive disease ichthyosis
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001339 | Lissencephaly |
| HP:0000962 | Hyperkeratosis |
| HP:0007957 | Corneal opacity |
| HP:0000135 | Hypogonadism |
| HP:0004298 | Abnormality of the abdominal wall |
| HP:0001249 | Intellectual disability |
| HP:0000083 | Renal insufficiency |
| HP:0001250 | Seizure |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0000717 | Autism |
