Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:skin
genetic disorder |
| gptkbp:affects |
integumentary system
|
| gptkbp:causedBy |
mutation in the STS gene
steroid sulfatase deficiency |
| gptkbp:complication |
cryptorchidism
corneal opacities prolonged labor in mothers |
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:differentialDiagnosis |
gptkb:ichthyosis_vulgaris
gptkb:lamellar_ichthyosis |
| gptkbp:firstDescribed |
1965
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked ichthyosis
|
| gptkbp:ICD-10_code |
Q80.1
|
| gptkbp:inheritance |
X-linked recessive
mothers are carriers |
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
|
| gptkbp:OMIM |
308100
|
| gptkbp:onset |
infancy
|
| gptkbp:otherName |
gptkb:X-linked_recessive_ichthyosis
steroid sulfatase deficiency |
| gptkbp:prevalence |
1 in 2,000 to 6,000 males
|
| gptkbp:sexAffected |
males
|
| gptkbp:symptom |
scaly skin
dark, thick, plate-like scales |
| gptkbp:treatment |
moisturizers
keratolytic agents |
| gptkbp:bfsParent |
gptkb:Xp21.2
|
| gptkbp:bfsLayer |
6
|