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TRICHOTHIODYSTROPHY, PHOTOSENSITIVE
(OMIM ID: #601675 )

Known also as: TTDP; ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION; TAY SYNDROME; TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS * ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED * IBIDS SYNDROME, INCLUDED

Can be caused by mutation in at least 2 separate genes: ERCC2/XPD and ERCC3/XPB, which encode the 2 helicase subunits of transcription/repair vector TFIIH. Most patients carry mutations in XPD; mutations in XPB concern only a few patients. Besides XP groups B and D, an exceptional trichothiodystrophy complementation group designated TTD-A was identified in 1993. This form was found by Giglia-Mari et al. (2004) to be caused by mutation in the tenth subunit of TFIIH, TFB5.

DNA repair proteins related with TRICHOTHIODYSTROPHY, PHOTOSENSITIVE (#601675 ) disease:

Following keywords are related to TRICHOTHIODYSTROPHY, PHOTOSENSITIVE:

nucleotide excision repair (NER)

Last modification of this entry: Oct. 19, 2010.

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TRICHOTHIODYSTROPHY, PHOTOSENSITIVE (OMIM ID: #601675 )

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE
(OMIM ID: #601675 )