Ichthyosis, X-Linked (XLI)

Alias:
X-Linked Ichthyosis
Steroid Sulfatase Deficiency
X-Linked Ichthyosis with Steryl-Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency
Xli
Steroid Sulfatase Deficiency Disease
X-Linked Recessive Ichthyosis
Recessive X-Linked Ichthyosis
Rxli
Recessive X-Linked Ichthyosis with Extracutaneous Manifestations
X-Linked Ichthyosis with Steryl-Sulphatase Deficiency
X-Linked Placental Steryl-Sulphatase Deficiency
Syndromic Recessive X-Linked Ichthyosis
X-Linked Ichthyosis Syndrome
Sex-Linked Ichthyosis
Ichthyosis X-Linked
Sts Deficiency
Syndromic Rxli
Ssdd
Ixl
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis, X-Linked, also known as x-linked ichthyosis, is related to chondrodysplasia punctata syndrome and multiple sulfatase deficiency. An important gene associated with Ichthyosis, X-Linked is STS (Steroid Sulfatase), and among its related pathways/superpathways is Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are ichthyosis and hyperkeratosis
Related ID:
MESH:D016114
ICD11:1466487054

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Child
1-5/10000
27
69
89

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top