| Descriptor English: | Trichothiodystrophy Syndromes | ||||
| Descriptor Spanish: |
Síndromes de Tricotiodistrofia
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| 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 |
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| Tree number(s): |
C16.131.077.899 C16.131.831.874 C16.320.850.895 C17.800.804.874 C17.800.827.895 |
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| 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. |
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| 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 |
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| Previous Indexing: |
Hair Diseases (1980-2007) |
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| Public MeSH Note: | 2008 |
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| History Note: | 2008 |
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| 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 |
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Trichothiodystrophy Syndromes
- Preferred
Trichothiodystrophy, Nonphotosensitive 1
- Narrower
IBIDS Syndrome
- Narrower
Photosensitive Trichothiodystrophy
- Narrower
Amish Brittle Hair Brain Syndrome
- Related but not broader or narrower
| 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 |
| Concept UI |
M000618521 |
| Preferred term | Trichothiodystrophy, Nonphotosensitive 1 |
| Entry term(s) |
Trichothiodystrophies, Nonphotosensitive 1 |
| 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 |
| Concept UI |
M0505277 |
| Preferred term | Photosensitive Trichothiodystrophy |
| Entry term(s) |
PIBIDS Syndrome PIBIDS Syndromes Photosensitive Trichothiodystrophies Trichothiodystrophies, Photosensitive Trichothiodystrophy, Photosensitive |
| 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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