Photosensitive trichothiodystrophy

MONDO:0002470

A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway

Also known as: trichothiodystrophy, trichothiodystrophy with congenital ichthyosis, Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature, trichothiodystrophy with congenital ichtyosis

4 clinical trials for this condition and its sub-types, 0 tagged with Photosensitive trichothiodystrophy itself.

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Where it sits in the disease tree

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Part of

↑ DNA repair disease (105) ↑ Radiation-induced disorder (93) ↑ Trichothiodystrophy (2)

Sub-types of Photosensitive trichothiodystrophy

Trichothiodystrophy 1, photosensitive 0 trials
Trichothiodystrophy 2, photosensitive 0 trials
Trichothiodystrophy 3, photosensitive 0 trials

Including sub-types (4) Tagged with Photosensitive trichothiodystrophy (0)

Trials to join now! 1 Not yet finished but already full! 1 Completed 2

New drug combo targets Hard-to-Treat cancers in early trial

Disease control Recruiting now

This study tests a new drug called AZD4956, alone or with other cancer drugs, in people with advanced or spreading solid tumors that have a specific DNA repair defect (HRR deficiency). The main goals are to check safety, find the best dose, and see if the drug can shrink tumors. …

Phase 1/2 • Sponsor: AstraZeneca • Aim: Disease control

Last updated Sep 10, 2026 00:00 UTC

Photosensitive trichothiodystrophy

Where it sits in the disease tree

New drug combo targets Hard-to-Treat cancers in early trial