photosensitive trichothiodystrophy

Summary
Synonym
  • IBIDS syndrome
  • TTD-P
  • Tay syndrome
  • sulfur-deficient brittle hair syndrome
  • trichothiodystrophy with congenital ichthyosis
Definition
A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
Super Class
trichothiodystrophy
External Links
Disease Ontology
DOID:2960
MeSH
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
847 CAT catalase
3383 ICAM1 intercellular adhesion molecule 1
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P04040 Catalase
P05362 Intercellular adhesion molecule 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024