Adenomyosis

Summary

Adenomyosis (MONDO:0010888) is a disease with 9 GWAS associations across 1 studies and 111 clinical trials. Top therapeutic interventions include dienogest, bromocriptine, and leuprolide. A subtype of endometrial disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 9
• Clinical trials: 111

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	adenomyosis
Mondo ID	MONDO:0010888
MeSH	D062788
OMIM	600458
DOID	DOID:288
ICD-10-CM	N80.0
ICD-11	171294592
NCIT	C6996
SNOMED CT	237115002
UMLS	C5574708
MedGen	1805484
Anatomy (UBERON)	UBERON:0001296
Is cancer (heuristic)	no

Also known as: adenomyosis of the uterus · adenomyosis of uterus · endometriosis (disease) of myometrium · endometriosis interna · endometriosis of myometrium · endometriosis of uterus · endometriosis, myometrium · myometrium endometriosis (disease) · uterine adenomyosis · uterine corpus adenomyosis · uterus corpus adenomyosis

Data availability: 9 GWAS associations (1 study).

Disease family

This is a subtype of endometrial disorder. 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 › reproductive system disorder › female reproductive system disorder › uterine disorder › endometrial disorder › adenomyosis

Related subtypes (6): endometritis, tamoxifen-related endometrial lesion, endometriosis, atypical endometrial hyperplasia, endometrial polyp, endometrium neoplasm

Subtypes (1): endomyometritis

Genetics & variants

GWAS landscape

9 GWAS associations across 1 studies. Top hits map to 10 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs58415480	6e-13	SYNE1	C	0.07
rs11031005	7e-12	ARL14EP-DT	T	0.07
rs10090060	1e-10	GDAP1	A	0.05
rs7974900	6e-09	SSPN, SSPN-AS1	T	0.05
rs184700	3e-08	HRH1	T	0.06
rs1865573	7e-07	GREB1	A	0.04
rs55938609	9e-07	WNT4	C	0.05
rs17053711	1e-06	KCTD9	A	0.04
rs17265513	8e-06	ZHX3	T	0.04

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90841388	Koller D	2026	8,753	415,718	Multi-ancestry genome-wide association and integrated multi-omics analyses of endometriosis and its clinical manifestations.

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	8

MAF distribution

Bucket	Variants
common (>=0.05)	9
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	8
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs58415480	6	152241136	C>G,T	0.218	intron_variant	SYNE1	6e-13	Tier 4: intronic/intergenic
rs11031005	11	30204809	T>C	0.183	intron_variant	ARL14EP-DT	7e-12	Tier 4: intronic/intergenic
rs10090060	8	74345373	A>G	0.445	intron_variant	GDAP1	1e-10	Tier 4: intronic/intergenic
rs7974900	12	26275744	T>A,C,G	0.253	intron_variant	SSPN, SSPN-AS1	6e-09	Tier 4: intronic/intergenic
rs184700	3	11251375	T>C	0.323	intron_variant	HRH1	3e-08	Tier 4: intronic/intergenic
rs1865573	2	11583732	G>A,T	0.374	intron_variant	GREB1	7e-07	Tier 4: intronic/intergenic
rs55938609	1	22143958	G>C	0.152	intron_variant	WNT4	9e-07	Tier 4: intronic/intergenic
rs17053711	8	25453753	G>A	0.286	intron_variant	KCTD9	1e-06	Tier 4: intronic/intergenic
rs17265513	20	41203988	T>A,C	0.27	missense_variant	ZHX3	8e-06	Tier 1: coding

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

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Goserelin, Letrozole, Levonorgestrel, Mifepristone, Ulipristal Acetate.

Clinical trials & evidence

Clinical trials

Clinical trials: 111.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	85
PHASE4	7
EARLY_PHASE1	7
PHASE3	5
PHASE2	3
PHASE2/PHASE3	2
PHASE1	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06985186	PHASE4	NOT_YET_RECRUITING	Does The Addition Of Letrozole To Ultra-Long GnRH Agonists Help Adenomyosis Patients in ART? The AURA Trial
NCT03325868	PHASE4	WITHDRAWN	Effect of Ulipristal Acetate on Bleeding Patterns and Dysmenorrhea in Women With Adenomyosis
NCT03421639	PHASE4	UNKNOWN	Aromatase Plus GnRH Analogue Versus GnRH Analog Alone in Adenomyosis
NCT03654144	PHASE4	UNKNOWN	Role of Dienogest in the Treatment of Patient With Symptomatic Adenomyosis
NCT03937401	PHASE4	UNKNOWN	Oxytocin in MRI-HIFU
NCT03946722	PHASE4	UNKNOWN	Modified Downregulation for Women With Adenomyosis of the Uterus Prior to Frozen-thawed Embryo Transfer.
NCT05937490	PHASE4	UNKNOWN	Adenomyosis and ART
NCT04356664	PHASE2/PHASE3	RECRUITING	Benefit of GnRH Agonist Before Frozen Embryo Transfer in Patients With Endometriosis and/or Adenomyosis
NCT07162961	PHASE3	NOT_YET_RECRUITING	Nintedanib for Improving Reproductive Outcomes in Adenomyosis
NCT01048931	PHASE3	UNKNOWN	Single-port Access Laparoscopic-assisted Vaginal Hysterectomy
NCT01064128	PHASE3	COMPLETED	Study of Different Pain Scores in Single-Port Access (SPA) Laparoscopic Hysterectomy Versus Conventional Laparoscopic Hysterectomy
NCT01483417	PHASE3	UNKNOWN	Single Incision Laparoscopic Surgery (SILS) Versus Conventional Laparoscopic Hysterectomy
NCT03520439	PHASE2/PHASE3	COMPLETED	Evaluation of Therapeutic Effect and Safety of Mifepristone in the Treatment of Adenomyosis
NCT03940807	PHASE3	WITHDRAWN	Impact of Ultra-long Versus Long Down-regulation Protocol on IVF/ICSI in Adenomyosis
NCT01601366	PHASE2	COMPLETED	LNG-IUS for Treatment of Dysmenorrhea
NCT02587000	PHASE2	COMPLETED	Adenomyosis and Ulipristal Acetate
NCT02794467	PHASE2	WITHDRAWN	Placebo-controlled Proof of Concept Study of Epelsiban in Women With Adenomyosis
NCT06719934	PHASE1	NOT_YET_RECRUITING	Ttt of Adenomyosis
NCT01821001	PHASE1	COMPLETED	Vaginal Bromocriptine for Treatment of Adenomyosis
NCT04126824	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Effect of Addition of Steroids on Duration of Analgesia
NCT01992718	EARLY_PHASE1	COMPLETED	What Are we Missing? Diagnosing Uterine Adenomyosis Using Ultrasound Elastography
NCT03037944	EARLY_PHASE1	UNKNOWN	Levonorgestrel-releasing Intrauterine System Versus a Low-dose Combined Oral Contraceptive for Management of Adenomyosis Uteri
NCT03927651	EARLY_PHASE1	COMPLETED	ICG to Assess Ovarian Perfusion
NCT04535804	EARLY_PHASE1	UNKNOWN	Aspirin in the Treatment of Pregnant Women With Adenomyosis on Reducing Preterm Delivery
NCT05151016	EARLY_PHASE1	UNKNOWN	Long-term Use of Mifepristone in the Treatment of Adenomyosis
NCT05597644	EARLY_PHASE1	UNKNOWN	Role of Uterine Artery Embolization in Adenomyosis
NCT04209127	Not specified	RECRUITING	Comparing Efficacy of Microwave Vs Embolization Treatment for Adenomyosis
NCT04481321	Not specified	RECRUITING	Clinical and Molecular Study of Endometriosis and Adenomyosis
NCT04791033	Not specified	ACTIVE_NOT_RECRUITING	Quality of Life After Hysterectomy (AdenoQOL)
NCT04862000	Not specified	RECRUITING	Observational Study of Patients Suffering From Endometriosis and Adenomyosis
NCT06123975	Not specified	RECRUITING	Adenomyosis Patients With Infertility and Immunological Factors
NCT06239376	Not specified	RECRUITING	Artificial Cycle With or Without GnRH Agonist Pre-treatment for Frozen Embryo Transfer in Adenomyosis Patients
NCT06332560	Not specified	RECRUITING	Pain in Endometriosis And the Relation to Lifestyle
NCT06364592	Not specified	RECRUITING	Electroacupuncture for Dysmenorrhea Secondary to Adenomyosis
NCT06373822	Not specified	RECRUITING	New Perspectives in Adenomyosis Pathogenesis With Epigenetic Analysis and miRNAs
NCT06478992	Not specified	NOT_YET_RECRUITING	Hysteroscopic Suture Fixation of Mirena in the Treatment of Adenomyosis
NCT06572852	Not specified	RECRUITING	Next-Generation Endometriosis Diagnostics Through Comprehensive Multi-Dimensional Analysis
NCT06604091	Not specified	ACTIVE_NOT_RECRUITING	Cohort Profile：The Shandong Adenomyosis Cohort of Population Undergoing Reproductive Technology (SAart)
NCT06652945	Not specified	NOT_YET_RECRUITING	Efficacy of Uterine Artery Embolization (UAE) in Management of Symptomatic Uterine Adenomyosis
NCT06663553	Not specified	NOT_YET_RECRUITING	Comparing the Efficacy of TU-LESS and vNOTES for Hysterectomy of Enlarged Uterus

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DIENOGEST	4	4
BROMOCRIPTINE	4	3
LEUPROLIDE	4	3
GONADORELIN ACETATE	4	2
LEVONORGESTREL	4	2
ULIPRISTAL ACETATE	4	2
DROSPIRENONE	4	1
IOHEXOL	4	1
IOPAMIDOL	4	1
LETROZOLE	4	1
MIFEPRISTONE	4	1
NINTEDANIB	4	1
OXYTOCIN	4	1
TRIAMCINOLONE	4	1
TRIPTORELIN	4	1
TRIPTORELIN ACETATE	3	1
EPELSIBAN	2	1
CHEMBL2370644	0	2
CHEMBL1074	0	2
CHEMBL4073387	0	1
CHEMBL4303358	0	1
CHEMBL1625141	0	1
CHEMBL4206476	0	1
CHEMBL4206925	0	1
CHEMBL1335195	0	1
CHEMBL216803	0	1
CHEMBL2370637	0	1
CHEMBL2370638	0	1
CHEMBL2370639	0	1
CHEMBL2370643	0	1