|
1 / 1
|
DeCS
|
|
 |
|
Descriptor Inglés:
|
|
Trichothiodystrophy Syndromes
|
|
Descriptor Español:
|
|
Síndromes de Tricotiodistrofia
|
|
Descriptor Portugués:
|
|
Síndromes de Tricotiodistrofia
|
|
Categoría:
|
|
C16.131.077.899
C16.131.831.874
C16.320.850.895
C17.800.804.874
C17.800.827.895
|
|
Definición Inglés:
|
|
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. |
|
Relacionados Inglés:
|
|
Xeroderma Pigmentosum Group D Protein
|
|
Nota Histórica Inglés:
|
|
2008
|
|
Calificadores Permitidos Inglés:
|
|
|
|
Número del Registro:
|
|
52625
|
|
Identificador Único:
|
|
D054463
|
Ocurrencia en la BVS:
|
|
|
Similar:
|
|
DeCS CID-10 SciELO LILACS LIS
|