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Descriptor English: Trichothiodystrophy Syndromes
Descriptor Spanish: Síndromes de Tricotiodistrofia
Descriptor Portuguese: Síndromes de Tricotiodistrofia
Descriptor French: Trichothiodystrophies
Entry term(s): 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
Tree number(s): C16.131.077.899
C16.131.831.874
C16.320.850.895
C17.800.804.874
C17.800.827.895
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D054463
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Hair Diseases (1980-2007)
Public MeSH Note: 2008
History Note: 2008
Related: Xeroderma Pigmentosum Group D Protein MeSH
DeCS ID: 52625
Unique ID: D054463
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2008/01/01
Date of Entry: 2007/07/09
Revision Date: 2016/06/10
Trichothiodystrophy Syndromes - Preferred
Concept UI M0505259
Scope note 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.
Preferred term Trichothiodystrophy Syndromes
Entry term(s) Trichothiodystrophies
Trichothiodystrophy
Trichothiodystrophy Syndrome
Trichothiodystrophy, Nonphotosensitive 1 - Narrower
Concept UI M000618521
Preferred term Trichothiodystrophy, Nonphotosensitive 1
Entry term(s) Trichothiodystrophies, Nonphotosensitive 1
IBIDS Syndrome - Narrower
Concept UI M0535686
Preferred term IBIDS Syndrome
Entry term(s) IBIDS Syndromes
Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation
Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature
Tay Syndrome
Trichothiodystrophy with Congenital Ichtyosis
Photosensitive Trichothiodystrophy - Narrower
Concept UI M0505277
Preferred term Photosensitive Trichothiodystrophy
Entry term(s) PIBIDS Syndrome
PIBIDS Syndromes
Photosensitive Trichothiodystrophies
Trichothiodystrophies, Photosensitive
Trichothiodystrophy, Photosensitive
Amish Brittle Hair Brain Syndrome - Related but not broader or narrower
Concept UI M0563336
Preferred term Amish Brittle Hair Brain Syndrome
Entry term(s) 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



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