Diethylstilbestrol syndrome

Summary

Diethylstilbestrol syndrome (MONDO:0016012) is a disease. A subtype of 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): 18

Clinical features

Signs & symptoms

Clinical features (HPO)

18 HPO clinical features (Orphanet curated; top 18 by frequency):

HPO ID	Term	Frequency
HP:0000013	Hypoplasia of the uterus	Very frequent (80-99%)
HP:0000028	Cryptorchidism	Very frequent (80-99%)
HP:0000035	Abnormal testis morphology	Very frequent (80-99%)
HP:0000054	Micropenis	Very frequent (80-99%)
HP:0000130	Abnormality of the uterus	Very frequent (80-99%)
HP:0000868	Decreased fertility in females	Very frequent (80-99%)
HP:0001518	Small for gestational age	Very frequent (80-99%)
HP:0001622	Premature birth	Very frequent (80-99%)
HP:0003002	Breast carcinoma	Very frequent (80-99%)
HP:0008209	Premature ovarian insufficiency	Very frequent (80-99%)
HP:0008715	Testicular dysgenesis	Very frequent (80-99%)
HP:0012243	Abnormal reproductive system morphology	Very frequent (80-99%)
HP:0030424	Epididymal cyst	Very frequent (80-99%)
HP:0100602	Preeclampsia	Very frequent (80-99%)
HP:0100650	Vaginal neoplasm	Very frequent (80-99%)
HP:0000047	Hypospadias	Frequent (30-79%)
HP:0002861	Melanoma	Occasional (5-29%)
HP:0002871	Central apnea	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	diethylstilbestrol syndrome
Mondo ID	MONDO:0016012
Orphanet	1916
DOID	DOID:0051077
ICD-11	1134098724
NCIT	C113422
SNOMED CT	716005004
UMLS	C0853695
MedGen	799290
MedDRA	10012780
Is cancer (heuristic)	no

Also known as: antenatal diethylstilbestrol exposure · DES embryofetopathy · DES syndrome · diethylstilbestrol embryofetopathy · Distilbene embryofetopathy · fetal diethylstilbestrol syndrome · foetal diethylstilbestrol syndrome

Disease family

This is a subtype of 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 › diethylstilbestrol syndrome

Related subtypes (29): pelvic organ prolapse, cortisone reductase deficiency, physiological sexual disorder, gonadal disorder, female reproductive system disorder, male reproductive system disorder, pituitary gland disorder, infertility disorder, hypospadias, reproductive system neoplasm, dysplasia of cervix, female genital tuberculosis, habitual spontaneous abortion, aromatase excess syndrome, hand-foot-genital syndrome, mullerian duct anomalies-limb anomalies syndrome, Currarino triad, double uterus-hemivagina-renal agenesis syndrome, congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, spondylocostal dysostosis-anal and genitourinary malformations syndrome, congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, estrogen resistance syndrome, short stature, microcephaly, and endocrine dysfunction, sexually transmitted disease, NR5A1-related sex development 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.