Hair anomaly

Summary

Hair anomaly (MONDO:0019278) is a disease (an umbrella term covering 8 Mondo subtypes) with 3 GWAS associations across 11 studies. 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: 8 Mondo subtypes
• GWAS associations: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hair anomaly
Mondo ID	MONDO:0019278
Orphanet	79363
UMLS	C0265991
MedGen	539624
Anatomy (UBERON)	UBERON:0002074
Is cancer (heuristic)	no

Data availability: 3 GWAS associations (11 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 › hair anomaly

Related subtypes (8): piedra, hypotrichosis, hair follicle neoplasm, folliculitis, sebaceous gland disorder, hypertrichosis, Katsantoni-Papadakou-Lagoyanni syndrome, trichostasis spinulosa

Subtypes (8): alopecia, ringed hair disease, trichodysplasia-xeroderma syndrome, uncombable hair syndrome, isolated familial wooly hair disorder, pili torti, pili bifurcati, pili gemini

Genetics & variants

GWAS landscape

3 GWAS associations across 11 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs75495843	9e-19	PLCD1	G	0.29
rs10940308	2e-11	RPL13AP13 - FST	C	0.1

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476209	Verma A	2024	12,827	415,966	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478827	Verma A	2024	8,386	425,725	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478819	Verma A	2024	7,951	105,916	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480476	Verma A	2024	7,951	105,916	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436625	Zhou W	2018	5,344	402,357	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90478826	Verma A	2024	5,339	109,898	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480475	Verma A	2024	5,339	109,898	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478818	Verma A	2024	2,612	54,037	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478825	Verma A	2024	1,456	56,042	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482358	Verma A	2024	210	6,368	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	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

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

Functional consequences

Consequence	Count
missense_variant	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs75495843	3	38009720	G>A	0.031	missense_variant	PLCD1	9e-19	Tier 1: coding
rs10940308	5	53284613	C>T	0.22	intergenic_variant	RPL13AP13 - FST	2e-11	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.