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syndrómy trichotiodystrofie

Č. záznamu	d054463
Dátum	12.05.2026
Typ	M - MESH
Tematický termín	syndrómy trichotiodystrofie
Iný termín	Slovenčina (Pseudonym) trichotiodystrofia
Pozri tiež	(Skutočné meno) proteín xeroderma pigmentosum skupiny D
MDT	C16.131.077.899C16.131.831.874C16.320.850.895C17.800.804.874C17.800.827.895
Poznámka	Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.

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