Mullerian aplasia

Summary

Mullerian aplasia (MONDO:0019128) is a disease and 1 clinical trial. Top therapeutic interventions include tacrolimus anhydrous. A subtype of female reproductive system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-5 / 10 000 (Finland) [Orphanet-validated]
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-5 / 10 000	10	Finland	Validated
Point prevalence	1-5 / 10 000		Europe	Not yet validated
Point prevalence	1-5 / 10 000		Finland	Not yet validated

Identifiers

Disease identifiers

Field	Value
Canonical name	mullerian aplasia
Mondo ID	MONDO:0019128
MeSH	C537371
Orphanet	73217
SNOMED CT	253828000
UMLS	C0431637
MedGen	98466
GARD	0007100
Is cancer (heuristic)	no

Also known as: aplasia of the Mullerian ducts · aplasia of the Müllerian ducts · Mullerian duct failure · Müllerian duct failure

Disease family

This is a subtype of female reproductive system 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 › mullerian aplasia

Related subtypes (33): ectopic pregnancy, pelvic inflammatory disease, endosalpingiosis, vaginal disorder, prolapse of female genital organ, Allen-Masters syndrome, fallopian tube disorder, vulvar disease, uterine disorder, gynatresia, Bartholin duct cyst, ovarian disorder, hymen, imperforate, preterm premature rupture of the membranes, mammary-digital-nail syndrome, Asherman syndrome, uterine cervical aplasia and agenesis, longitudinal vaginal septum, transverse vaginal septum, polycystic ovaries-urethral sphincter dysfunction syndrome, granulomatous mastitis, vaginal atresia, vulvovaginal gingival syndrome, isolated partial vaginal agenesis, female infertility, female reproductive system neoplasm, polyp of vulva, vulval varices, vulvodynia, menstrual cycle-dependent periodic fever, Bartholin’s gland disease, delayed puberty, self-limited, menstrual disorder

Subtypes (2): partial bilateral aplasia of the mullerian ducts, unilateral aplasia of the mullerian ducts

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

No tiered GWAS variants or ClinVar records for this disease.

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03277430	PHASE3	UNKNOWN	Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TACROLIMUS ANHYDROUS	4	1