trichothiodystrophy syndromes

Preferred Label : trichothiodystrophy syndromes;

MeSH definition : 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.;

MeSH synonym : trichothiodystrophy syndrome; trichothiodystrophy; trichothiodystrophies;

CISMeF synonym : syndrome, bids; syndromes, pibids; 1 trichothiodystrophies, nonphotosensitive; 1 trichothiodystrophy, nonphotosensitive; syndromes, bids; ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature; syndrome, trichothiodystrophy; syndromes, trichothiodystrophy; nonphotosensitive 1 trichothiodystrophies; nonphotosensitive 1 trichothiodystrophy;

DeCS synonym : Trichothiodystrophy, Nonphotosensitive 1;

MeSH hyponym : photosensitive trichothiodystrophy; IBIDS syndrome; Trichothiodystrophies, Nonphotosensitive 1; 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 Trichothiodystrophies; Trichothiodystrophies, Photosensitive; Trichothiodystrophy, Photosensitive; PIBIDS Syndrome; PIBIDS Syndromes;

CISMeF hyponym : syndrome, pibids; trichothiodystrophy, nonphotosensitive 1;

Related MeSH term : amish brittle hair brain syndrome; Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome; Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome; Amish Brittle Hair Syndrome; Hair-Brain Syndrome; Hair Brain Syndrome; Hair-Brain Syndromes; BIDS Syndrome; BIDS Syndromes;

Details

Origin ID

D054463;

UMLS CUI

C1955934;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- BIDS syndrome [ICD-11 More detail]
- GTF2H5 wt Allele [NCIt concept]
- IBIDS syndrome [ICD-11 More detail]
- IBIDS syndrome [ORDO Disease]
- PIBIDS syndrome [ORDO Disease]
- Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder) [SNOMED CT concept]
- Trichothiodystrophy [OMIM phenotypic series]
- Trichothiodystrophy 4, nonphotosensitive [OMIM Phenotype]
- nonphotosensitive trichothiodystrophy 4 [DO Concept]
- photosensitive trichothiodystrophy [DO Concept]
- trichothiodystrophy [DO Concept]
Currated CISMeF NLP mapping
- Tricho-thiodystrophy (disorder) [Inactive SNOMED CT concept]
- Trichothiodystrophy [PASCAL descriptor]
- Trichothiodystrophy [MedDRA Preferred Term]
- Trichothiodystrophy [ICD-11 More detail]
- Trichothiodystrophy [NCIt concept]
- Trichothiodystrophy [ORDO Disease]
- Trichothiodystrophy (disorder) [SNOMED CT concept]
- trichothiodystrophy [Disease (Nov.)]
DO Cross reference
- nonphotosensitive trichothiodystrophy 5 [DO Concept]
- photosensitive trichothiodystrophy [DO Concept]
- trichothiodystrophy [DO Concept]
False automatic mappings
- BIDS syndrome [ORDO Disease]
- Brittle hair-impaired intellect-decreased fertility-short stature syndrome (disorder) [SNOMED CT concept]
Indexing information
- MPLKIP protein, human [MeSH Supplementary Concept]
- XPBC-ERCC-3 protein [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Brittle hair syndrome, Sabinas type [ORDO Disease]
- IBIDS syndrome [ORDO Disease]
- Onycho-tricho-dysplasia-neutropenia syndrome [ORDO Disease]
- Pollitt syndrome [ORDO Disease]
- SIBIDS syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Ectodermal dysplasia syndrome [ORDO Disease]
- Ichthyosis associated with a nucleotide excision repair anomaly [ORDO Disease]
- Inherited ichthyosis [ORDO Disease]
- Syndromic hair shaft abnormality [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
ORDO relation(s)
- Trichothiodystrophy [ORDO Disease]
Record concept(s)
- IBIDS syndrome [MeSH concept]
- Trichothiodystrophy, Nonphotosensitive 1 [MeSH concept]
- amish brittle hair brain syndrome [MeSH concept]
- photosensitive trichothiodystrophy [MeSH concept]
- trichothiodystrophy syndromes [MeSH concept]
Related MeSH Supplementary Concept(s)
- ichthyosis, congenital, with trichothiodystrophy [MeSH Supplementary Concept]
- sabinas brittle hair syndrome [MeSH Supplementary Concept]
- trichorrhexis nodosa syndrome [MeSH Supplementary Concept]
- trichothiodystrophy with sun sensitivity [MeSH Supplementary Concept]
See also
- xeroderma pigmentosum group d protein [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy [MedDRA Preferred Term]
- Trichothiodystrophy [NCIt concept]
- Trichothiodystrophy [PASCAL descriptor]
- Trichothiodystrophy (disorder) [SNOMED CT concept]
- photosensitive trichothiodystrophy [DO Concept]
- trichothiodystrophy [DO Concept]
Validated automatic mappings to BTNT
- Congenital ichthyosis with trichothiodystrophy [ORDO Disease]
- PIBIDS syndrome [ICD-11 More detail]
- Trichothiodystrophy 1, photosensitive [OMIM Phenotype]
- Trichothiodystrophy 4, nonphotosensitive [OMIM Phenotype]

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