Hypotrichosis

Summary

Hypotrichosis (MONDO:0003037) is a disease (an umbrella term covering 19 Mondo subtypes) with 1 cohort gene and 8 clinical trials. Top therapeutic interventions include bimatoprost, baricitinib, and minoxidil.

At a glance

• Umbrella term: 19 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hypotrichosis
Mondo ID	MONDO:0003037
MeSH	D007039
OMIM	605389
DOID	DOID:4535
NCIT	C34720
SNOMED CT	53602002
UMLS	C0020678
MedGen	6993
Is cancer (heuristic)	no

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 19 Mondo subtypes.

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

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

Subtypes (19): hypotrichosis of eyelid, hypotrichosis 2, hypotrichosis 8, congenital hypotrichosis with juvenile macular dystrophy, hypotrichosis 7, hypotrichosis 1, hypotrichosis 6, hypotrichosis 3, hypotrichosis 9, hypotrichosis 10, hypotrichosis 11, hypotrichosis 12, hypotrichosis 13, Marie Unna hereditary hypotrichosis, Basaran Yilmaz syndrome, congenital hypotrichosis milia, hypotrichosis 14, hypotrichosis 15, hypotrichosis 16

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
594037	NM_001793.6(CDH3):c.895C>T (p.Gln299Ter)	CDH3	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CDH3	Orphanet:1573	Hypotrichosis with juvenile macular degeneration
CDH3	Orphanet:1897	EEM syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CDH3	HGNC:1762	ENSG00000062038	P22223	Cadherin-3	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CDH3	Cadherin-3	Cadherins are calcium-dependent cell adhesion proteins.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CDH3	Other/Unknown	no		Cadherin_Y-type_LIR, Cadherin-like_dom, Cadherin_pro_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
mammary duct	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CDH3	213	tissue_specific	marker	secondary oocyte, oocyte, mammary duct

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CDH3	1,749

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CDH3	P22223	19

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Adherens junctions interactions	1	248.3×	0.007	CDH3
Cell-cell junction organization	1	248.3×	0.007	CDH3
Cell junction organization	1	187.2×	0.007	CDH3
Cell-Cell communication	1	137.6×	0.007	CDH3

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of timing of catagen	1	16852.0×	0.001	CDH3
regulation of transport	1	8426.0×	0.001	CDH3
hair cycle process	1	2808.7×	0.002	CDH3
hair follicle maturation	1	2106.5×	0.002	CDH3
positive regulation of melanin biosynthetic process	1	1404.3×	0.003	CDH3
positive regulation of insulin-like growth factor receptor signaling pathway	1	1203.7×	0.003	CDH3
retina homeostasis	1	1123.5×	0.003	CDH3
positive regulation of keratinocyte proliferation	1	991.3×	0.003	CDH3
adherens junction organization	1	510.7×	0.004	CDH3
calcium-dependent cell-cell adhesion	1	481.5×	0.004	CDH3
cell-cell junction assembly	1	443.5×	0.004	CDH3
cell-cell adhesion mediated by cadherin	1	411.0×	0.004	CDH3
keratinization	1	234.1×	0.007	CDH3
negative regulation of transforming growth factor beta receptor signaling pathway	1	173.7×	0.008	CDH3
cell morphogenesis	1	157.5×	0.008	CDH3
positive regulation of canonical Wnt signaling pathway	1	154.6×	0.008	CDH3
homophilic cell-cell adhesion	1	140.4×	0.008	CDH3
visual perception	1	79.5×	0.014	CDH3
cell migration	1	61.5×	0.017	CDH3
cell adhesion	1	37.5×	0.027	CDH3

Therapeutics

Drugs indicated or in trials for this disease

1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Status
Bimatoprost	Approved (phase 4)

1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Sodium Chloride	Phase 2

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CDH3	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	CDH3

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CDH3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE4	4
PHASE3	3
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00958035	PHASE4	COMPLETED	Study of Bimatoprost Solution in Increasing Eyelash Prominence in African Americans With Eyelash Hypotrichosis
NCT01387906	PHASE4	COMPLETED	Latisse (Bimatoprost .03% Opthalmic Solution) for the Treatment of Hypotrichosis of the Eyebrows: Latisse Versus Placebo
NCT01448525	PHASE4	COMPLETED	Study Assessing Patient Satisfaction With LATISSE® for Increasing Eyelash Prominence
NCT01891487	PHASE4	COMPLETED	Safety and Efficacy of Bimatoprost 0.03% Solution for the Treatment of Thinning Eyebrows
NCT05723198	PHASE3	RECRUITING	A Study of Baricitinib (LY3009104) in Children From 6 Years to Less Than 18 Years of Age With Alopecia Areata
NCT00907426	PHASE3	COMPLETED	Safety and Efficacy Study of Bimatoprost to Treat Hypotrichosis of the Eyelashes After Application to the Eyelid Margin
NCT01200251	PHASE3	COMPLETED	Study of Bimatoprost Gel on Eyelash Growth
NCT05790941	EARLY_PHASE1	UNKNOWN	Proof of Concept Study of Latanoprost/Minoxidil (ANR-001.1) Topical Formulation

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BIMATOPROST	4	2
BARICITINIB	4	1
MINOXIDIL	4	1
CHEMBL4303730	0	2
CHEMBL5427854	0	1
CHEMBL609587	0	1
VEHICLE	0	1