Details of Disease | DrugMAP

General Information of Disease (ID: DISOMQD2)

Disease Name	Trichothiodystrophy
Synonyms	trichothiodystrophy syndrome
Definition	Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).
Disease Hierarchy	DISLRS4M: Ectodermal dysplasia DISOMQD2: Trichothiodystrophy
Disease Identifiers	MONDO ID MONDO_0018053 MESH ID D054463 UMLS CUI C1955934 MedGen ID 363064 Orphanet ID 33364 SNOMED CT ID 723551003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NR1H2	TTXA6PH	moderate	Genetic Variation	[1]
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This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL6A1	OTYKSCOB	Limited	Altered Expression	[2]
GTF2H1	OTCRXC6B	Limited	Altered Expression	[3]
GTF2H2	OTK72L9I	Limited	Altered Expression	[3]
GTF2H3	OT87W5QJ	Limited	Altered Expression	[3]
GTF2H4	OTPD1DIU	Limited	Altered Expression	[3]
IFI44	OTOKSZVA	Limited	Genetic Variation	[4]
ERCC2	OT1C8HQ4	Supportive	Autosomal recessive	[5]
ERCC3	OTVAW3P1	Supportive	Autosomal recessive	[5]
GTF2E2	OTDHCCCR	Supportive	Autosomal recessive	[6]
GTF2H5	OTRL219S	Supportive	Autosomal recessive	[5]
MPLKIP	OTV7BX5A	Supportive	Autosomal recessive	[7]
RNF113A	OTR6N7HU	Supportive	Autosomal recessive	[8]
TARS1	OT0PWST5	Supportive	Autosomal recessive	[9]
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⏷ Show the Full List of 13 DOT(s)

References

1	Solar UV damage to cellular DNA: from mechanisms to biological effects.Photochem Photobiol Sci. 2018 Dec 5;17(12):1842-1852. doi: 10.1039/c8pp00182k.
2	XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.Hum Mol Genet. 2013 Mar 15;22(6):1061-73. doi: 10.1093/hmg/dds508. Epub 2012 Dec 5.
3	Small molecule-based targeting of TTD-A dimerization to control TFIIH transcriptional activity represents a potential strategy for anticancer therapy.J Biol Chem. 2018 Sep 28;293(39):14974-14988. doi: 10.1074/jbc.RA118.003444. Epub 2018 Aug 1.
4	The intricate network between the p34 and p44 subunits is central to the activity of the transcription/DNA repair factor TFIIH.Nucleic Acids Res. 2017 Oct 13;45(18):10872-10883. doi: 10.1093/nar/gkx743.
5	Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Hum Mol Genet. 2002 Nov 1;11(23):2919-28. doi: 10.1093/hmg/11.23.2919.
6	GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17.
7	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
8	A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. J Med Genet. 2015 Apr;52(4):269-74. doi: 10.1136/jmedgenet-2014-102418. Epub 2015 Jan 22.
9	Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Am J Hum Genet. 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017.