Sebaceous gland disorder
diseaseOn this page
Also known as disease of sebaceous glanddisease or disorder of sebaceous glanddisorder of sebaceous glandsebaceous gland diseasesebaceous gland disease or disorder
Summary
Sebaceous gland disorder (MONDO:0006607) is a disease (an umbrella term covering 7 Mondo subtypes) with 45 GWAS associations across 13 studies and 3 clinical trials. A subtype of disorder of pilosebaceous unit — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 7 Mondo subtypes
- GWAS associations: 45
- Clinical trials: 3
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | sebaceous gland disorder |
| Mondo ID | MONDO:0006607 |
| EFO | EFO:1000763 |
| MeSH | D012625 |
| DOID | DOID:9098 |
| SNOMED CT | 3441005 |
| UMLS | C0036502 |
| MedGen | 48599 |
| Anatomy (UBERON) | UBERON:0001821 |
| Is cancer (heuristic) | no |
Also known as: disease of sebaceous gland · disease or disorder of sebaceous gland · disorder of sebaceous gland · sebaceous gland disease · sebaceous gland disease or disorder
Data availability: 45 GWAS associations (13 studies).
Disease family
This is a subtype of disorder of pilosebaceous unit. 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 › disorder of pilosebaceous unit › sebaceous gland disorder
Related subtypes (8): piedra, hypotrichosis, hair follicle neoplasm, folliculitis, hair anomaly, hypertrichosis, Katsantoni-Papadakou-Lagoyanni syndrome, trichostasis spinulosa
Subtypes (7): internal hordeolum, alopecia mucinosa, sebaceous gland neoplasm, sebocystomatosis, acne, demodicidosis of sebaceous gland, rhinophyma
Genetics & variants
GWAS landscape
45 GWAS associations across 13 studies. Top hits map to 18 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs61816761 | 2e-126 | FLG, CCDST | G | 0.74 |
| rs75495843 | 1e-59 | PLCD1 | G | 0.27 |
| rs12203592 | 3e-47 | IRF4 | C | 0.13 |
| rs452384 | 8e-41 | CLPTM1L | T | 0.08 |
| rs4268748 | 1e-39 | DEF8 | T | 0.09 |
| rs421284 | 2e-39 | CLPTM1L | T | 0.07 |
| chr16:89893375 | 3e-39 | C | 0.15 | |
| rs1805007 | 5e-35 | MC1R | C | 0.21 |
| rs16891982 | 1e-19 | SLC45A2 | C | 0.15 |
| rs6059655 | 2e-19 | RALY | A | 0.1 |
| rs36115038 | 1e-18 | CDK5R2-AS1, CDK5R2 | G | 0.2 |
| rs1126809 | 1e-15 | TYR | G | 0.05 |
| rs4903293 | 3e-15 | TMED10 - RNU4ATAC14P | A | 0.05 |
| chr14:75657351 | 1e-13 | A | 0.05 | |
| chr9:109541447 | 1e-12 | G | 0.05 | |
| rs78378222 | 2e-12 | TP53 | T | 0.2 |
| chr1:152319572 | 4e-12 | T | 0.75 | |
| rs10978632 | 4e-12 | LINC01505 - RNA5SP292 | G | 0.07 |
| chr1:150513711 | 5e-12 | A | 0.05 | |
| rs9543285 | 7e-12 | RNY1P8 - MARK2P12 | A | 0.04 |
| rs11583395 | 7e-12 | U3 - NXNP1 | A | 0.04 |
| rs1481362 | 7e-12 | U3 - NXNP1 | G | 0.04 |
| rs4970935 | 9e-12 | FALEC | C | 0.04 |
| chr3:122105616 | 2e-11 | G | 0.05 | |
| rs12913832 | 2e-11 | HERC2 | A | 0.05 |
| rs8047803 | 2e-11 | ZNF668 | C | 0.06 |
| rs16913462 | 1e-07 | LINC02683 | ? | |
| rs142028754 | 6e-07 | RFX3-DT | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90476210 | Verma A | 2024 | 61,215 | 337,155 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476215 | Verma A | 2024 | 20,908 | 399,030 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478839 | Verma A | 2024 | 18,620 | 88,589 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480484 | Verma A | 2024 | 18,620 | 88,589 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436631 | Zhou W | 2018 | 8,948 | 399,255 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90478837 | Verma A | 2024 | 6,917 | 46,948 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476214 | Verma A | 2024 | 6,523 | 105,977 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480483 | Verma A | 2024 | 6,523 | 105,977 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90652173 | Liu TY | 2025 | 3,830 | 227,516 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90478843 | Verma A | 2024 | 1,815 | 54,883 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 5 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 22 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 21 |
| low_freq (0.01-0.05) | 4 |
| rare (<0.01) | 2 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 11 |
| unknown | 6 |
| missense_variant | 4 |
| intergenic_variant | 4 |
| stop_gained | 1 |
| synonymous_variant | 1 |
| 3_prime_UTR_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs61816761 | 1 | 152313385 | G>A,C,T | 0.016 | stop_gained | FLG, CCDST | 2e-126 | Tier 1: coding |
| rs75495843 | 3 | 38009720 | G>A | 0.031 | missense_variant | PLCD1 | 1e-59 | Tier 1: coding |
| rs12203592 | 6 | 396321 | C>G,T | 0.16 | intron_variant | IRF4 | 3e-47 | Tier 4: intronic/intergenic |
| rs452384 | 5 | 1330725 | T>C | 0.435 | intron_variant | CLPTM1L | 8e-41 | Tier 4: intronic/intergenic |
| rs4268748 | 16 | 89960104 | T>C | 0.28 | intron_variant | DEF8 | 1e-39 | Tier 4: intronic/intergenic |
| rs421284 | 5 | 1325475 | T>C,G | 0.451 | intron_variant | CLPTM1L | 2e-39 | Tier 4: intronic/intergenic |
| chr16:89893375 | 0.251 | 3e-39 | Tier 4: intronic/intergenic | |||||
| rs1805007 | 16 | 89919709 | C>A,G,T | 0.064 | missense_variant | MC1R | 5e-35 | Tier 1: coding |
| rs16891982 | 5 | 33951588 | C>A,G | 0.037 | missense_variant | SLC45A2 | 1e-19 | Tier 1: coding |
| rs6059655 | 20 | 34077942 | A>G | 0.092 | intron_variant | RALY | 2e-19 | Tier 4: intronic/intergenic |
| rs36115038 | 2 | 218960489 | G>A | 0.027 | synonymous_variant | CDK5R2-AS1, CDK5R2 | 1e-18 | Tier 4: intronic/intergenic |
| rs1126809 | 11 | 89284793 | G>A | 0.283 | missense_variant | TYR | 1e-15 | Tier 1: coding |
| rs4903293 | 14 | 75189865 | A>C,G | 0.498 | intergenic_variant | TMED10 - RNU4ATAC14P | 3e-15 | Tier 4: intronic/intergenic |
| chr14:75657351 | 0.492 | 1e-13 | Tier 4: intronic/intergenic | |||||
| chr9:109541447 | 0.259 | 1e-12 | Tier 4: intronic/intergenic | |||||
| rs78378222 | 17 | 7668434 | T>A,G | 0.009 | 3_prime_UTR_variant | TP53 | 2e-12 | Tier 2: splice/UTR |
| chr1:152319572 | 0.006 | 4e-12 | Tier 4: intronic/intergenic | |||||
| rs10978632 | 9 | 106772126 | G>C | 0.098 | intergenic_variant | LINC01505 - RNA5SP292 | 4e-12 | Tier 4: intronic/intergenic |
| chr1:150513711 | 0.307 | 5e-12 | Tier 4: intronic/intergenic | |||||
| rs9543285 | 13 | 73238400 | A>G | 0.313 | intergenic_variant | RNY1P8 - MARK2P12 | 7e-12 | Tier 4: intronic/intergenic |
| rs11583395 | 1 | 218667821 | A>G,T | 0.447 | intron_variant | U3 - NXNP1 | 7e-12 | Tier 4: intronic/intergenic |
| rs1481362 | 1 | 218685403 | G>A,C | 0.412 | intergenic_variant | U3 - NXNP1 | 7e-12 | Tier 4: intronic/intergenic |
| rs4970935 | 1 | 150531586 | C>G,T | 0.307 | intron_variant | FALEC | 9e-12 | Tier 4: intronic/intergenic |
| chr3:122105616 | 0.162 | 2e-11 | Tier 4: intronic/intergenic | |||||
| rs12913832 | 15 | 28120472 | A>C,G | 0.241 | intron_variant | HERC2 | 2e-11 | Tier 4: intronic/intergenic |
| rs8047803 | 16 | 31068513 | C>A,T | 0.427 | intron_variant | ZNF668 | 2e-11 | Tier 4: intronic/intergenic |
| rs16913462 | 11 | 13931038 | A>G | 0.05 | intron_variant | LINC02683 | 1e-07 | Tier 4: intronic/intergenic |
| rs142028754 | 9 | 3531898 | A>G | intron_variant | RFX3-DT | 6e-07 | 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: 3.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 2 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00580736 | PHASE1 | COMPLETED | Optical Clearing of the Skin in Conjunction With Laser Treatments |
| NCT02455895 | Not specified | UNKNOWN | Efficacy of iLid Cleanser (Avenova) Versus Vehicle on Ocular Skin Flora |
| NCT05919810 | Not specified | COMPLETED | The Effects of Oral Probiotics and Herbal Supplementation on the Gut Microbiome and Sebum Excretion Rate in Non-Cystic Acne |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.