Phototoxic dermatitis

Summary

Phototoxic dermatitis (MONDO:0006598) is a disease with 27 GWAS associations across 10 studies. A subtype of irritant dermatitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 27

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	phototoxic dermatitis
Mondo ID	MONDO:0006598
EFO	EFO:1000753
MeSH	D017484
DOID	DOID:4407
NCIT	C4816
SNOMED CT	53597009
UMLS	C0162830
MedGen	58188
Is cancer (heuristic)	no

Also known as: photosensitive dermatitis · photosensitivity reaction

Data availability: 27 GWAS associations (10 studies).

Disease family

This is a subtype of irritant dermatitis. 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 › integumentary system disorder › skin disorder › dermatitis › contact dermatitis › irritant dermatitis › phototoxic dermatitis

Genetics & variants

GWAS landscape

27 GWAS associations across 10 studies. Top hits map to 10 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs12203592	9e-80	IRF4	C	0.34
rs1805007	2e-54	MC1R	C	0.33
rs183432375	2e-43	MVD	G	2.19
rs62211989	1e-28	TPM3P2 - PIGPP3	G	0.25
rs16891982	3e-20	SLC45A2	C	0.32
rs140758620	4e-18	TYR - NOX4	G	0.12
rs12363772	5e-16	TYR	G	0.11
rs62209647	4e-15	TPM3P2 - PIGPP3	G	0.23
rs116341238	1e-11	FOXP2 - MDFIC	T	1.49
rs544312545	1e-11	SHB	G	3.75
rs113626770	2e-11	LINC02523, HEY2-AS1	G	2.24
rs141881060	4e-11	ANO1	C	2.59
rs12575944	5e-09	DLG2	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476287	Verma A	2024	12,356	418,622	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476288	Verma A	2024	7,244	431,975	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479303	Verma A	2024	553	58,076	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480626	Verma A	2024	416	120,480	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482551	Verma A	2024	416	120,480	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436862	Zhou W	2018	390	404,817	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90436863	Zhou W	2018	253	404,817	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90480625	Verma A	2024	212	59,145	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482553	Verma A	2024	212	59,145	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651389	Liu TY	2025	134	199,253	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	11

MAF distribution

Bucket	Variants
common (>=0.05)	7
low_freq (0.01-0.05)	0
rare (<0.01)	5
unknown	1

Functional consequences

Consequence	Count
intron_variant	8
intergenic_variant	3
missense_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs12203592	6	396321	C>G,T	0.159	intron_variant	IRF4	9e-80	Tier 4: intronic/intergenic
rs1805007	16	89919709	C>A,G,T	0.082	missense_variant	MC1R	2e-54	Tier 1: coding
rs183432375	16	88655886	G>A,C	0.002	intron_variant	MVD	2e-43	Tier 4: intronic/intergenic
rs62211989	20	33950585	G>C	0.076	intergenic_variant	TPM3P2 - PIGPP3	1e-28	Tier 4: intronic/intergenic
rs16891982	5	33951588	C>A,G	0.236	missense_variant	SLC45A2	3e-20	Tier 1: coding
rs140758620	11	89318601	G>C,T	0.306	intergenic_variant	TYR - NOX4	4e-18	Tier 4: intronic/intergenic
rs12363772	11	89289278	G>A	0.252	intron_variant	TYR	5e-16	Tier 4: intronic/intergenic
rs62209647	20	33917852	G>C	0.08	intron_variant	TPM3P2 - PIGPP3	4e-15	Tier 4: intronic/intergenic
rs116341238	7	114892267	T>C,G	0.006	intergenic_variant	FOXP2 - MDFIC	1e-11	Tier 4: intronic/intergenic
rs544312545	9	37959669	G>A,C,T	0	intron_variant	SHB	1e-11	Tier 4: intronic/intergenic
rs113626770	6	125713011	G>A	0.001	intron_variant	LINC02523, HEY2-AS1	2e-11	Tier 4: intronic/intergenic
rs141881060	11	69996025	C>A,G,T	0	intron_variant	ANO1	4e-11	Tier 4: intronic/intergenic
rs12575944	11	84541740	C>T		intron_variant	DLG2	5e-09	Tier 4: intronic/intergenic

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: 0.