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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
(OMIM ID: #601675 )

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

Trichothiodystrophy (TTD) is a term introduced for sulfur-deficient brittle hair. Patients with trichothiodystrophy have brittle hair and nails (because of reduced content of cysteine-rich matrix proteins), ichthyotic skin, and physical and mental retardation. Approximately half of the patients display photosensitivity, correlated with a nucleotide excision repair (NER). for a discussion of nonphotosensitive trichothiodystrophy (TTDN). As is the situation with Cockayne syndrome no cases of skin cancer had been reported with trichothiodystrophy.

DNA repair proteins related with XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (#601675 ) disease:

Following keywords are related to XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E:

nucleotide excision repair (NER)

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

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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM ID: #601675 )

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
(OMIM ID: #601675 )