Expresión de búsqueda: TRICHOTHIODYSTROPHY SYNDROMES 
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Descriptor Inglés:   Trichothiodystrophy Syndromes 
Descriptor Español:   Síndromes de Tricotiodistrofia 
Descriptor Portugués:   Síndromes de Tricotiodistrofia 
Sinónimos Inglés:   Amish Brittle Hair Brain Syndrome
Amish Brittle Hair Syndrome
BIDS Syndrome
BIDS Syndromes
Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Hair Brain Syndrome
Hair-Brain Syndrome
Hair-Brain Syndromes
IBIDS Syndrome
IBIDS Syndromes
Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation
Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature
PIBIDS Syndrome
PIBIDS Syndromes
Photosensitive Trichothiodystrophies
Photosensitive Trichothiodystrophy
Tay Syndrome
Trichothiodystrophies
Trichothiodystrophies, Nonphotosensitive 1
Trichothiodystrophies, Photosensitive
Trichothiodystrophy
Trichothiodystrophy Syndrome
Trichothiodystrophy with Congenital Ichtyosis
Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Photosensitive  
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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Número del Registro:   52625 
Identificador Único:   D054463 

Ocurrencia en la BVS: 		 

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