Details of Disease | DrugMAP

General Information of Disease (ID: DISK51NL)

Disease Name	Trichothiodystrophy 1, photosensitive
Synonyms	Tay syndrome; trichothiodystrophy with congenital ichthyosis; ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation; trichothiodystrophy, photosensitive; TTD1; PIBIDS syndrome; trichothiodystrophy 1, photosensitive
Disease Hierarchy	DIS2H1LL: Photosensitive trichothiodystrophy DISK51NL: Trichothiodystrophy 1, photosensitive
Disease Identifiers	MONDO ID MONDO_0011125 MESH ID D054463 UMLS CUI C1866504 OMIM ID 601675 MedGen ID 355730 Orphanet ID 670

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ERCC3	OTVAW3P1	Strong	Autosomal recessive	[1]
ERCC2	OT1C8HQ4	Definitive	Autosomal recessive	[2]
GTF2H5	OTRL219S	Definitive	Autosomal recessive	[3]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. Hum Mutat. 2009 Mar;30(3):438-45. doi: 10.1002/humu.20912.
3	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.