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 1 - 10 of 23 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
308 ANXA5 annexin A5
410 ARSA arylsulfatase A
412 STS steroid sulfatase
960 CD44 CD44 molecule (IN blood group)
1464 CSPG4 chondroitin sulfate proteoglycan 4
1717 DHCR7 7-dehydrocholesterol reductase
2720 GLB1 galactosidase beta 1
3423 IDS iduronate 2-sulfatase
3956 LGALS1 galectin 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 34 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0010866 Abdominal wall defect
HP:0000958 Dry skin
HP:0004322 Short stature
HP:0000122 Unilateral renal agenesis
HP:0002381 Aphasia
HP:0007759 Opacification of the corneal stroma
HP:0000966 Hypohidrosis
HP:0000028 Cryptorchidism
HP:0001339 Lissencephaly
Displaying 1 entry
Gene ID Gene Symbol Description
412 STS steroid sulfatase

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Last updated: August 19, 2024