Photosensitive trichothiodystrophy

Summary

Photosensitive trichothiodystrophy (MONDO:0002470) is a disease and 1 clinical trial. A subtype of trichothiodystrophy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	photosensitive trichothiodystrophy
Mondo ID	MONDO:0002470
Orphanet	453
DOID	DOID:2960
UMLS	C1848412
MedGen	336339
GARD	0023143
Is cancer (heuristic)	no

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

Data availability: 64 cell lines.

Disease family

This is a subtype of trichothiodystrophy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › syndromic disease › ectodermal dysplasia syndrome › trichothiodystrophy › photosensitive trichothiodystrophy

Related subtypes (6): trichothiodystrophy 5, nonphotosensitive, trichothiodystrophy 6, nonphotosensitive, trichothiodystrophy 4, nonphotosensitive, trichothiodystrophy 8, nonphotosensitive, trichothiodystrophy 9, nonphotosensitive, trichothiodystrophy 7, nonphotosensitive

Subtypes (3): trichothiodystrophy 1, photosensitive, trichothiodystrophy 2, photosensitive, trichothiodystrophy 3, photosensitive

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05484570	Not specified	RECRUITING	Natural History Study for DNA Repair Disorders