Features include always present findings: Trichorrhexis nodosa, Retrognathia, Cutaneous photosensitivity, and Trichoschisis and others; and sometimes findings: Microcornea, Keratoconjunctivitis sicca, Protruding ear, and Microphthalmia. 45 total HPO annotations.

ERCC2 encodes ERCC excision repair 2, TFIIH core complex helicase subunit (760 aa). ATP-dependent 5'-3' DNA helicase. Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro. Highest expression in Cells Cultured fibroblasts (40.4 TPM) and Testis (31.6 TPM).

Trichothiodystrophy 1, photosensitive is associated with mutations in the ERCC2 gene on chromosome 19.

The ERCC2 protein participates in ERCC2 and ERCC3 DNA helicases form an open bubble structure in damaged DNA, ERCC2-facilitated RNA Pol II backtracking in TC-NER, and ERCC3-facilitated RNA Pol II backtracking in TC-NER pathways.

ERCC2 is classified as a druggable target (Clinically Actionable, Drug Resistance, Enzyme, Kinase, and Transcription Factor categories) with score 4.7.

Genetic testing for ERCC2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features.

No clinical trials have been registered for trichothiodystrophy 1, photosensitive.

19 publications have been identified in PubMed for trichothiodystrophy 1, photosensitive. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (26%).