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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 Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4507 | MTAP | methylthioadenosine phosphorylase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 8789 | FBP2 | fructose-bisphosphatase 2 | |
| 10855 | HPSE | heparanase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00329 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | |
| O60760 | Hematopoietic prostaglandin D synthase | |
| P08758 | Annexin A5 | |
| P08842 | Steryl-sulfatase | |
| P09382 | Galectin-1 | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P15289 | Arylsulfatase A | |
| P16070 | CD44 antigen | |
| P16278 | Beta-galactosidase | |
| P22304 | Iduronate 2-sulfatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004298 | Abnormality of the abdominal wall |
| HP:0100617 | Testicular seminoma |
| HP:0001270 | Motor delay |
| HP:0000135 | Hypogonadism |
| HP:0002488 | Acute leukemia |
| HP:0007957 | Corneal opacity |
| HP:0003623 | Neonatal onset |
| HP:0010788 | Testicular neoplasm |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
