Dermatophytosis

disease
On this page

Also known as dermatomycosisfungal skin diseasefungal skin diseasesringwormskin disease, fungalskin diseases, fungal

Summary

Dermatophytosis (MONDO:0004678) is a disease (an umbrella term covering 11 Mondo subtypes) with 74 GWAS associations across 40 studies and 5 clinical trials. Top therapeutic interventions include fluconazole, itraconazole, and hyoscyamine. A subtype of tinea infection — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Umbrella term: 11 Mondo subtypes
  • GWAS associations: 74
  • Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namedermatophytosis
Mondo IDMONDO:0004678
DOIDDOID:8913
ICD-10-CMB35
ICD-111802307036
NCITC26745
SNOMED CT47382004
UMLSC0011636
MedGen3768
Is cancer (heuristic)no

Also known as: dermatomycosis · fungal skin disease · fungal skin diseases · ringworm · skin disease, fungal · skin diseases, fungal

Data availability: 74 GWAS associations (40 studies).

Disease family

This is a subtype of tinea infection. 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 etiologic mechanism › disease of primarily extrinsic mechanism › infectious diseasefungal infectious diseasecutaneous mycosistinea infectiondermatophytosis

Related subtypes (8): otomycosis, conidiobolomycosis, cutaneous candidiasis, eumycotic mycetoma, pityriasis versicolor, tinea favosa, deep seated dermatophytosis, fungal infection of the toenail

Subtypes (11): tinea barbae, ectothrix infectious disease, endothrix infectious disease, dermatophytosis of groin and perianal area, tinea corporis, tinea unguium, tinea profunda, tinea manuum, dermatophytosis of scalp or beard, tinea pedis, Majocchi granuloma

Genetics & variants

GWAS landscape

74 GWAS associations across 40 studies. Top hits map to 28 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs71967267e-79ZNF646A1.07
chr16:310833242e-39G0.07
rs178395681e-36PRSS53T0.06
rs118648061e-36ZNF646, PRSS53G0.06
rs17942691e-36HLA-DQB1 - MTCO3P1T1.05
rs14210851e-35FTOT0.06
rs5582691372e-27CCDST, FLGCACTG0.8
rs100948883e-24LYPD2 - LYNX1-SLURP2T1.04
rs121238211e-18CCDSTC0.11
chr16:310458521e-16CAA0.07
rs618167613e-16FLG, CCDSTG0.17
rs109124883e-16SLC25A38P1 - AIMP1P2A1.03
rs18296371e-15KRT77A1.03
chr17:440965532e-15G0.05
rs22365069e-15RTEL1, RTEL1-TNFRSF6BA0.97
rs4387351e-14ARRDC2 - RPS18P13A0.95
rs6120579e-14KNTC1 - HCAR2T1.03
rs620661193e-13RPS26P8 - LINC02210T1.04
rs8486e-13IL13, TH2LCRRA0.97
rs46893881e-12JAKMIP1-DT - WFS1G0.04
rs621062525e-12LINC01865G0.09
rs558185286e-12LYNX1-SLURP2 - LY6DT0.03
rs739846898e-12KANSL1G0.04
rs64251451e-11SLC25A38P1 - AIMP1P2T0.04
chr1:84986802e-11A0.04
rs79031463e-11TCF7L2C0.03
rs65774974e-11REREA1.02
chr1:1523126006e-11C0.18
chr8:1427327752e-10G0.05
rs18857673e-10LINC01065 - PCDH8P1A1.02

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90475560Verma A202497,617302,401Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475561Verma A202495,136306,081Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477141Verma A202438,50567,722Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479769Verma A202438,50567,722Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477144Verma A202436,99469,578Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479767Verma A202436,99469,578Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473080UK Biobank Whole-Genome Sequencing Consortium202530,117428,323Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667807UK Biobank Whole-Genome Sequencing Consortium202530,117428,323Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90809876Haapaniemi H202614,5541,151,461The genetic basis of dermatophytosis skin infection susceptibility.
GCST90477139Verma A202414,21438,346Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding8
Tier 2: splice/UTR2
Tier 3: regulatory0
Tier 4: intronic/intergenic40

MAF distribution

BucketVariants
common (>=0.05)37
low_freq (0.01-0.05)4
rare (<0.01)0
unknown9

Functional consequences

ConsequenceCount
intron_variant19
unknown10
intergenic_variant10
missense_variant6
3_prime_UTR_variant2
frameshift_variant1
stop_gained1
non_coding_transcript_exon_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs71967261631080754G>A0.413missense_variantZNF6467e-79Tier 1: coding
chr16:310833240.3852e-39Tier 4: intronic/intergenic
rs178395681631088462T>C0.429intron_variantPRSS531e-36Tier 4: intronic/intergenic
rs118648061631083883G>A,C,T0.4293_prime_UTR_variantZNF646, PRSS531e-36Tier 2: splice/UTR
rs1794269632706117C>G,T0.401intergenic_variantHLA-DQB1 - MTCO3P11e-36Tier 4: intronic/intergenic
rs14210851653767042T>C0.407intron_variantFTO1e-35Tier 4: intronic/intergenic
rs5582691371152312601CACTG>C0.016frameshift_variantCCDST, FLG2e-27Tier 1: coding
rs100948888142762416C>T0.362intron_variantLYPD2 - LYNX1-SLURP23e-24Tier 4: intronic/intergenic
rs121238211152206676C>T0.047intron_variantCCDST1e-18Tier 4: intronic/intergenic
chr16:310458521e-16Tier 4: intronic/intergenic
rs618167611152313385G>A,C,T0.016stop_gainedFLG, CCDST3e-16Tier 1: coding
rs109124881172877652A>G,T0.27intron_variantSLC25A38P1 - AIMP1P23e-16Tier 4: intronic/intergenic
rs18296371252695529G>A,C,T0.303intron_variantKRT771e-15Tier 4: intronic/intergenic
chr17:440965530.2172e-15Tier 4: intronic/intergenic
rs22365062063690302G>A0.215missense_variantRTEL1, RTEL1-TNFRSF6B9e-15Tier 1: coding
rs4387351918015397C>A,G0.094intergenic_variantARRDC2 - RPS18P131e-14Tier 4: intronic/intergenic
rs61205712122700003T>C0.455intron_variantKNTC1 - HCAR29e-14Tier 4: intronic/intergenic
rs620661191745617831C>T0.189intergenic_variantRPS26P8 - LINC022103e-13Tier 4: intronic/intergenic
rs8485132660808A>C,G,T0.2953_prime_UTR_variantIL13, TH2LCRR6e-13Tier 2: splice/UTR
rs468938846268329G>A0.414intergenic_variantJAKMIP1-DT - WFS11e-12Tier 4: intronic/intergenic
rs621062522408713G>A0.044intron_variantLINC018655e-12Tier 4: intronic/intergenic
rs558185288142780034T>C,G0.395intergenic_variantLYNX1-SLURP2 - LY6D6e-12Tier 4: intronic/intergenic
rs739846891746107038G>A0.185intron_variantKANSL18e-12Tier 4: intronic/intergenic
rs64251451172875269T>A,C,G0.31intron_variantSLC25A38P1 - AIMP1P21e-11Tier 4: intronic/intergenic
chr1:84986800.3212e-11Tier 4: intronic/intergenic
rs790314610112998590C>G,T0.289intron_variantTCF7L23e-11Tier 4: intronic/intergenic
rs657749718545608A>G,T0.36intron_variantRERE4e-11Tier 4: intronic/intergenic
chr1:1523126006e-11Tier 4: intronic/intergenic
chr8:1427327752e-10Tier 4: intronic/intergenic
rs18857671353167993A>G0.398intron_variantLINC01065 - PCDH8P13e-10Tier 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: 5.

Phase distribution (across all retrieved trials)

PhaseTrials
PHASE42
Not specified2
PHASE31

Top trials by phase / activity

NCTPhaseStatusTitle
NCT07342153PHASE4RECRUITINGComparing the Efficacy of Oral Fluconazole Versus Oral Itraconazole in Treating Resistant Tinea Corporis
NCT03098615PHASE4COMPLETEDStudy Evaluating the Effect of Jublia on Dermatophytomas
NCT00856596PHASE3UNKNOWNOnce a Day Topical Treatment for Athlete’s Foot Fungus Inbetween the Toes in Males and Females
NCT07270471Not specifiedCOMPLETEDEvaluation of Two Dermatophyte qPCR Kits on Skin and Keratinous Samples.
NCT07420894Not specifiedCOMPLETEDComparison of Combination of Itraconazole and Isotretinoin Versus Itraconazole Alone in the Treatment of Resistant Trichophyton Infection

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
FLUCONAZOLE41
ITRACONAZOLE41
HYOSCYAMINE-11