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trichothiodystrophy syndromes

human disease
Class type of: autosomal dominant disease, trichothiodystrophy Q3539030

Facts

8 properties
Instance of
rare disease, class of disease[4]
Subclass of
autosomal dominant disease, trichothiodystrophy
Age of onset
infantile onset, neonatal onset[19][20]
Genetic association
ERCC2, GTF2E2, ERCC3, RNF113A, GTF2H5, MPLKIP, AARS1, CARS1, MARS1, TARS1[9][10][11][12][13][14][15][16][17][18]
Health specialty
dermatology, medical genetics[7][8]
NCI Thesaurus ID
C4924[6]
On focus list of Wikimedia project
WikiProject Medicine[21]
Prevalence
+0.000001[5]
🏷️ Also known as
en Trichothiodystrophy Syndrome en trichothiodystrophy syndromes en trichothiodystrophy with congenital ichthyosis en IBIDS syndrome en photosensitive trichothiodystrophy en sulfur-deficient brittle hair syndrome en Tay syndrome en trichothiodystrophy ar الحثل الكبريتي الشعري ar حثل كبريتي شعري de Trichothiodystrophie es Tricotiodistrofia fi Trikotiodystrofiat ja 硫黄欠乏性毛髪発育異常症 pl Trichotiodystrofia ru Трихотиодистрофия
🔖 Identifiers · 18
Disease Ontology ID
DOID:2960
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
Freebase ID
/m/05f48p7
GARD rare disease ID
12109
Genetics Home Reference Conditions ID
trichothiodystrophy
ICD-10-CM
L67.8
ICD-11 ID (Foundation)
1366758649, 1028003819
KEGG ID
H00866
MeSH descriptor ID
D054463
MeSH tree code
C16.131.077.899, C16.131.831.874, C16.320.850.895, C17.800.804.874, C17.800.827.895
Microsoft Academic ID (discontinued)
2780069873, 2910655568
Mondo ID
MONDO_0018053
Show all 18 identifiers +6
OMIM ID
601675
Orphanet ID
33364
Raras disease ID
D33364
SNOMED CT ID
723551003
UMLS CUI
C0740342, C1955934
WikiProjectMed ID
Trichothiodystrophy

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Genetic association 3
GTF2H5, GTF2E2, MPLKIP
Health specialty 2
dermatology, medical genetics
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
← Different from 1
TTD
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Summary

trichothiodystrophy syndromes is a rare disease[1]. It is a type of autosomal dominant disease[2] and trichothiodystrophy[3].

Related Entities

dermatology

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [4] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] ↑ . GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. wikidata.org.
  10. [11] ↑ . A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] ↑ . A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.. wikidata.org.
  12. [13] ↑ . A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. wikidata.org.
  13. [14] ↑ . Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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BibTeX @misc{4ortxyz_trichothiodystrophy-syndromes_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{trichothiodystrophy syndromes}}, year = {2026}, url = {https://4ort.xyz/entity/trichothiodystrophy-syndromes}, note = {Accessed: 2026-11-12}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 20d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Instance of → rare disease, class of disease
    Health specialty → dermatology, medical genetics
    Genetic association → ERCC2, GTF2E2, ERCC3 +1
    Prevalence → 0.000001
    + 4 other properties edited (see Wikidata diff for full list)
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.