X-linked recessive ichthyosis
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:skin
genetic disorder |
| gptkbp:affects |
males
|
| gptkbp:causedBy |
mutation in the STS gene
|
| gptkbp:compatibleWith |
life-threatening
contagious |
| gptkbp:complication |
cryptorchidism
corneal opacities prolonged labor in mothers |
| gptkbp:firstDescribed |
1903
|
| gptkbp:frequency |
rare
|
| gptkbp:hasICD10 |
Q80.1
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked recessive ichthyosis
|
| gptkbp:inheritance |
X-linked recessive
X-linked |
| gptkbp:locatedOnChromosome |
gptkb:Xp22.3
|
| gptkbp:OMIM |
308100
|
| gptkbp:onset |
infancy
|
| gptkbp:pathology |
deficiency of steroid sulfatase enzyme
|
| gptkbp:prevalence |
1 in 2,000 to 6,000 males
|
| gptkbp:rarelyAffects |
females
|
| gptkbp:symptom |
scaly skin
dark, brownish scales scaling on neck, trunk, and extremities |
| gptkbp:synonym |
gptkb:X-linked_ichthyosis
steroid sulfatase deficiency |
| gptkbp:treatment |
moisturizers
topical retinoids keratolytic agents |
| gptkbp:bfsParent |
gptkb:X-linked_ichthyosis
|
| gptkbp:bfsLayer |
7
|