Details of Disease

General Information of Disease (ID: DISH6B0O)

Disease Name Trichothiodystrophy 6, nonphotosensitive
Synonyms
GTF2E2 nonphotosensitive trichothiodystrophy; trichothiodystrophy 6, nonphotosensitive; TTD6; nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2; TTD6; trichothiodystrophy 6, nonphotosensitive
Definition Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.
Disease Hierarchy
DISOMQD2: Trichothiodystrophy
DISH6B0O: Trichothiodystrophy 6, nonphotosensitive
Disease Identifiers
MONDO ID
MONDO_0014841
UMLS CUI
C4310785
OMIM ID
616943
MedGen ID
934752

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GTF2E2 OTDHCCCR Strong Autosomal recessive [1]
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References

1 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.