Disorder of pilosebaceous unit

Summary

Disorder of pilosebaceous unit (MONDO:0002917) is a disease (an umbrella term covering 9 Mondo subtypes) with 1 GWAS associations across 2 studies and 8 clinical trials. Top therapeutic interventions include baricitinib. A subtype of integumentary system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 9 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	disorder of pilosebaceous unit
Mondo ID	MONDO:0002917
MeSH	D006201
DOID	DOID:421
NCIT	C34656
SNOMED CT	201128002
UMLS	C0554472
MedGen	640417
Anatomy (UBERON)	UBERON:0011932
Is cancer (heuristic)	no

Also known as: disease of pilosebaceous unit · disease or disorder of pilosebaceous unit · disorder of pilosebaceous unit · hair and hair follicle diseases · hair disease · hair disorder · hair/hair follicle diseases · pilosebaceous unit disease · pilosebaceous unit disease or disorder

Data availability: 1 GWAS association (2 studies).

Disease family

An umbrella term covering 9 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit

Related subtypes (35): Neu-Laxova syndrome, cutaneous mycosis, integumentary system benign neoplasm, integumentary system cancer, nipple neoplasm, nail disorder, Bartholin duct cyst, benign mammary dysplasia, skin disorder, breast fibrosis, breast mucosa-associated lymphoid tissue lymphoma, panniculitis, alopecia-epilepsy-pyorrhea-intellectual disability syndrome, autosomal dominant deafness - onychodystrophy syndrome, keratoderma hereditarium mutilans, Rombo syndrome, Sjogren-Larsson syndrome, mucosulfatidosis, ichthyosis prematurity syndrome, ANE syndrome, frontonasal dysplasia with alopecia and genital anomaly, peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome, mandibulofacial dysostosis with alopecia, cutis laxa, X-linked ichthyosis syndrome, demodicidosis, Proteus-like syndrome, familial atypical multiple mole melanoma syndrome, familial tumoral calcinosis, subcutaneous tissue disorder, Bartholin gland neoplasm, pseudoxanthoma elasticum (inherited or acquired), skin appendage disorder, keratinization disease, paraneoplastic cutaneous syndrome

Subtypes (9): piedra, hypotrichosis, hair follicle neoplasm, folliculitis, sebaceous gland disorder, hair anomaly, hypertrichosis, Katsantoni-Papadakou-Lagoyanni syndrome, trichostasis spinulosa

Genetics & variants

GWAS landscape

1 GWAS associations across 2 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs112855477	3e-07	GLI3 - LINC01448	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90044529	Jiang L	2021	5,290	451,058	A generalized linear mixed model association tool for biobank-scale data.
GCST90652088	Liu TY	2025	2,225	231,046	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	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

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

Functional consequences

Consequence	Count
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs112855477	7	42482893	G>A		intergenic_variant	GLI3 - LINC01448	3e-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: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE3	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05723198	PHASE3	RECRUITING	A Study of Baricitinib (LY3009104) in Children From 6 Years to Less Than 18 Years of Age With Alopecia Areata
NCT02849470	PHASE1/PHASE2	WITHDRAWN	AGA Biocellular Stem/Stromal Hair Regenerative Study
NCT06283316	Not specified	RECRUITING	Systemic Treatments for Alopecia Areata Registry
NCT06999408	Not specified	ACTIVE_NOT_RECRUITING	Efficacy and Safety of TargetCool + Benev Exosomes in Patients With Hair Thinning
NCT06003062	Not specified	UNKNOWN	Suppression of Upper Lip Hair Growth Using Novel Hemp Extract
NCT06095739	Not specified	COMPLETED	Study to Investigate the Effectiveness of a Topical Cosmetic Formulation DA-OTC-002
NCT06395545	Not specified	COMPLETED	Local Anesthesia and Electronic Injector
NCT06512766	Not specified	COMPLETED	a Retrospective Study on the Systemic Treatment of LPP and FFA

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BARICITINIB	4	1
CHEMBL5427854	0	1