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trichothiodystrophy 6, nonphotosensitive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trichothiodystrophy 6, nonphotosensitive

MONDO:0014841

Also known as:GTF2E2 nonphotosensitive trichothiodystrophyTTD6nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2

Overview

Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.

GeneticsAutosomal recessive · GTF2E2 (chr 8)

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: Decreased mean corpuscular volume, Short stature, Tiger tail banding, and Dry skin and others; and common findings: Delayed skeletal maturation. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Moderate intellectual disability, Broad-based gait, Global developmental delay

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.

GTF2E2 encodes general transcription factor IIE subunit 2 (291 aa). Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Highest expression in Cells EBV-transformed lymphocytes (54.5 TPM) and Testis (53.6 TPM).

Trichothiodystrophy 6, nonphotosensitive is associated with mutations in the GTF2E2 gene on chromosome 8.

GTF2E2 is classified as a druggable target (Kinase and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GTF2E2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 1 common feature.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616943

GARD

Genetic and Rare Diseases Info Center

GARD:16172

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 6, nonphotosensitive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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