Vaginal atresia

Summary

Vaginal atresia (MONDO:0019007) is a disease. 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: Unknown (Worldwide)
• Phenotypes (HPO): 12

Clinical features

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0000148	Vaginal atresia	Obligate (100%)
HP:0000130	Abnormality of the uterus	Frequent (30-79%)
HP:0000786	Primary amenorrhea	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0030011	Imperforate hymen	Frequent (30-79%)
HP:0031500	Abdominal mass	Frequent (30-79%)
HP:0031501	Pelvic mass	Frequent (30-79%)
HP:0003762	Uterus didelphys	Occasional (5-29%)
HP:0030160	Cervicitis	Occasional (5-29%)
HP:0100674	Vaginal hematocele	Occasional (5-29%)
HP:0000145	Transverse vaginal septum	Very rare (<1-4%)
HP:0000813	Bicornuate uterus	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	vaginal atresia
Mondo ID	MONDO:0019007
Orphanet	65681
ICD-11	1126562070
UMLS	C1321884
MedGen	232948
GARD	0018867
MedDRA	10046879
Is cancer (heuristic)	no

Data availability: 1 HPO phenotype.

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 › vaginal atresia

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, mullerian aplasia, 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

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: 0.