Erythematosquamous dermatosis

Summary

Erythematosquamous dermatosis (MONDO:0006546) is a disease with 45 GWAS associations across 7 studies. A subtype of skin disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 45

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	erythematosquamous dermatosis
Mondo ID	MONDO:0006546
EFO	EFO:1000695
DOID	DOID:9097
NCIT	C34591
SNOMED CT	54792008
UMLS	C0014747
MedGen	5014
Is cancer (heuristic)	no

Also known as: erythematosquamous dermatosis

Data availability: 45 GWAS associations (7 studies).

Disease family

This is a subtype of skin disorder. 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 › erythematosquamous dermatosis

Related subtypes (71): dermatitis, cutaneous mucinosis, skin neoplasm, pyoderma, chronic ulcer of skin, systemic sclerosis, sunburn, severe cutaneous adverse reaction, paronychia, Achenbach syndrome, erythema multiforme, exanthem, facial dermatosis, hand dermatosis, keratosis, leg dermatosis, lichen disease, lipodystrophy, mongolian spot, reactive cutaneous fibrous lesion, rosacea, scalp dermatosis, sebaceous gland disorder, skin atrophy, skin sarcoidosis, sweat gland disorder, vesiculobullous skin disease, hyperglobulinemic purpura, ainhum, cheilitis glandularis, erythema palmare hereditarium, multiple benign circumferential skin creases on limbs, actinic prurigo, congenital lethal erythroderma, Parana hard-skin syndrome, Bazex-Dupre-Christol syndrome, nephrogenic systemic fibrosis, erosive pustular dermatosis of the scalp, pseudoxanthoma elasticum-like papillary dermal elastolysis, toxic dermatosis, oral erosive lichen, chronic actinic dermatitis, Jessner lymphocytic infiltration of the skin, acquired kinky hair syndrome, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, corticosteroid-sensitive aseptic abscess syndrome, interstitial granulomatous dermatitis with arthritis, epidermal disease, skin pigmentation disorder, skin vascular disease, Wells syndrome, solar urticaria, pellagra, hereditary epidermal appendage anomaly, keratosis pilaris, dermis disorder, aquagenic pruritus, Boudhina Yedes Khiari syndrome, non-neoplastic nevus, cutaneous sclerosis, pityriasis rotunda, hematohidrosis, skin disorder caused by infection, livedoid vasculopathy, prurigo nodularis, granuloma faciale, sclerema neonatorum, hereditary skin disorder, hand-foot syndrome, Nicolau syndrome

Genetics & variants

GWAS landscape

45 GWAS associations across 7 studies. Top hits map to 21 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs12203592	1e-71	IRF4	C	0.21
rs12188300	2e-57	IL12B-AS1	A	0.21
rs241454	7e-51	TAP2	A	0.14
chr6:32770916	2e-49		C	0.13
rs1805007	1e-34	MC1R	C	0.17
rs11150849	2e-26	CARD14	G	0.09
rs8046218	5e-23	PRSS22 - FLYWCH2	C	0.09
chr16:2910736	9e-23		G	0.09
rs268890	4e-22	KLK6 - KLK7	G	0.11
rs7445392	1e-19	SPINK5	C	0.07
rs12722496	2e-19	IL2RA	A	0.11
rs1250563	3e-18	ZMIZ1	G	0.08
rs16891982	8e-18	SLC45A2	C	0.2
rs1126809	9e-18	TYR	G	0.08
rs12743974	6e-17	IL23R	G	0.07
rs34536443	1e-16	TYK2	G	0.17
rs61839660	2e-16	IL2RA	C	0.12
chr5:131793286	1e-15		C	0.06
chr5:147465252	1e-15		C	0.07
chr11:61605499	3e-15		T	0.07
rs74178437	3e-15	ZBTB7A	G	0.07
rs6602288	8e-15	PRPF38AP1 - LINC00708	G	0.07
chr3:71536974	1e-14		A	0.07
rs6059655	2e-14	RALY	A	0.11
rs12913832	3e-14	HERC2	A	0.07
rs200868187	5e-14	FAM8A1	G	0.17
rs847	5e-14	IL13, TH2LCRR	T	0.08
chr18:51841147	3e-13		T	0.06
rs35768603	1e-12	FOXP1	T	0.06
chr2:119590288	5e-12		C	0.06

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476170	Verma A	2024	31,321	393,906	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478782	Verma A	2024	4,331	113,628	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480446	Verma A	2024	4,331	113,628	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478781	Verma A	2024	2,525	54,902	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651899	Liu TY	2025	1,816	218,583	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90482326	Verma A	2024	292	6,302	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436586	Zhou W	2018	72	402,672	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	5
Tier 2: splice/UTR	3
Tier 3: regulatory	0
Tier 4: intronic/intergenic	25

MAF distribution

Bucket	Variants
common (>=0.05)	29
low_freq (0.01-0.05)	3
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	13
unknown	8
missense_variant	5
intergenic_variant	3
3_prime_UTR_variant	2
non_coding_transcript_exon_variant	1
5_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs12203592	6	396321	C>G,T	0.16	intron_variant	IRF4	1e-71	Tier 4: intronic/intergenic
rs12188300	5	159402519	A>G,T	0.088	intergenic_variant	IL12B-AS1	2e-57	Tier 4: intronic/intergenic
rs241454	6	32828367	A>C,G	0.251	3_prime_UTR_variant	TAP2	7e-51	Tier 2: splice/UTR
chr6:32770916				0.31			2e-49	Tier 4: intronic/intergenic
rs1805007	16	89919709	C>A,G,T	0.082	missense_variant	MC1R	1e-34	Tier 1: coding
rs11150849	17	80202697	G>A,C,T	0.498	non_coding_transcript_exon_variant	CARD14	2e-26	Tier 4: intronic/intergenic
rs8046218	16	2858702	C>T	0.33	intron_variant	PRSS22 - FLYWCH2	5e-23	Tier 4: intronic/intergenic
chr16:2910736				0.313			9e-23	Tier 4: intronic/intergenic
rs268890	19	50971418	G>A	0.196	intron_variant	KLK6 - KLK7	4e-22	Tier 4: intronic/intergenic
rs7445392	5	148071888	C>A,G,T	0.48	intron_variant	SPINK5	1e-19	Tier 4: intronic/intergenic
rs12722496	10	6054704	A>G	0.107	intron_variant	IL2RA	2e-19	Tier 4: intronic/intergenic
rs1250563	10	79287626	G>C	0.309	intron_variant	ZMIZ1	3e-18	Tier 4: intronic/intergenic
rs16891982	5	33951588	C>A,G	0.038	missense_variant	SLC45A2	8e-18	Tier 1: coding
rs1126809	11	89284793	G>A	0.283	missense_variant	TYR	9e-18	Tier 1: coding
rs12743974	1	67242674	G>A,C,T	0.406	intron_variant	IL23R	6e-17	Tier 4: intronic/intergenic
rs34536443	19	10352442	G>C,T	0.049	missense_variant	TYK2	1e-16	Tier 1: coding
rs61839660	10	6052734	C>T	0.075	intron_variant	IL2RA	2e-16	Tier 4: intronic/intergenic
chr5:131793286				0.416			1e-15	Tier 4: intronic/intergenic
chr5:147465252				0.492			1e-15	Tier 4: intronic/intergenic
chr11:61605499				0.339			3e-15	Tier 4: intronic/intergenic
rs74178437	19	4056862	G>A,C,T	0.381	5_prime_UTR_variant	ZBTB7A	3e-15	Tier 2: splice/UTR
rs6602288	10	8175958	G>A,C	0.252	intron_variant	PRPF38AP1 - LINC00708	8e-15	Tier 4: intronic/intergenic
chr3:71536974				0.322			1e-14	Tier 4: intronic/intergenic
rs6059655	20	34077942	A>G	0.091	intron_variant	RALY	2e-14	Tier 4: intronic/intergenic
rs12913832	15	28120472	A>C,G	0.241	intron_variant	HERC2	3e-14	Tier 4: intronic/intergenic
rs200868187	6	17602639	G>A,T	0.033	missense_variant	FAM8A1	5e-14	Tier 1: coding
rs847	5	132660977	T>A,C,G	0.208	3_prime_UTR_variant	IL13, TH2LCRR	5e-14	Tier 2: splice/UTR
chr18:51841147				0.279			3e-13	Tier 4: intronic/intergenic
rs35768603	3	71495101	T>C	0.361	intron_variant	FOXP1	1e-12	Tier 4: intronic/intergenic
chr2:119590288				0.262			5e-12	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.