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trichothiodystrophy 3, photosensitive (TTD3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trichothiodystrophy 3, photosensitive

MONDO:0014619

Also known as:TTD3trichothiodystrophy, complementation group A

Overview

GeneticsAutosomal recessive · GTF2H5 (chr 6)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypertonia, Meckel diverticulum, Delayed CNS myelination, and Trigonocephaly and others; and common findings: Hearing loss (hearing impairment), Short stature, Cataract, and Carious teeth and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Cutaneous photosensitivity, Dry, scaly skin (ichthyosis), Congenital ichthyosiform erythroderma

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GTF2H5 encodes general transcription factor IIH subunit 5 (71 aa). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Highest expression in Cells Cultured fibroblasts (17.4 TPM) and Artery Tibial (11.7 TPM).

Trichothiodystrophy 3, photosensitive is associated with mutations in the GTF2H5 gene on chromosome 6.

The GTF2H5 protein participates in Recruitment of XPA and release of CAK pathway.

GTF2H5 is classified as a druggable target (Kinase and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GTF2H5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 29 always present features, 5 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for trichothiodystrophy 3, photosensitive.

6 publications have been identified in PubMed for trichothiodystrophy 3, photosensitive. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (17%).

Recent Publications

Bravo M (2026). [PMID: 41897370](https://pubmed.ncbi.nlm.nih.gov/41897370/). *Biomolecules*. [Review / Meta-Analysis]
Fassihi H (2025). [PMID: 40924475](https://pubmed.ncbi.nlm.nih.gov/40924475/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Paudel R (2025). [PMID: 40918647](https://pubmed.ncbi.nlm.nih.gov/40918647/). *NAR cancer*. [Basic Science / Preclinical]
Dri J (2025). [PMID: 40168358](https://pubmed.ncbi.nlm.nih.gov/40168358/). *Archivos argentinos de pediatria*. [Case Report / Case Series]
Nakazawa Y (2025). [PMID: 40924495](https://pubmed.ncbi.nlm.nih.gov/40924495/). *The Journal of clinical investigation*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616395

GARD

Genetic and Rare Diseases Info Center

GARD:16102

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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trichothiodystrophy 3, photosensitive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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