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
External Links
Disease Ontology
DOID:1700
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 23 of 23 in total
Gene ID Gene Symbol Description Source
27306 HPGDS hematopoietic prostaglandin D synthase
65078 RTN4R reticulon 4 receptor
285362 SUMF1 sulfatase modifying factor 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 34 in total
HPO ID HPO Term
HP:0007018 Attention deficit hyperactivity disorder
HP:0000962 Hyperkeratosis
HP:0008064 Ichthyosis
HP:0001249 Intellectual disability
HP:0000717 Autism
HP:0002577 Abnormal stomach morphology
HP:0002167 Abnormality of speech or vocalization
HP:0000083 Renal insufficiency
HP:0007549 Desquamation of skin soon after birth
HP:0001250 Seizure
Displaying 1 entry
Gene ID Gene Symbol Description
412 STS steroid sulfatase

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Acknowledgements

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Last updated: August 19, 2024