Diethylstilbestrol Syndrome

Categories: Rare diseases, Reproductive diseases, Fetal diseases

Aliases & Classifications for Diethylstilbestrol Syndrome

MalaCards integrated aliases for Diethylstilbestrol Syndrome:

Name: Diethylstilbestrol Syndrome 53 59
Des Syndrome 53 59 73
Diethylstilbestrol Embryofetopathy 53 59
Distilbene Embryofetopathy 53 59
Des Embryofetopathy 53 59
Antenatal Diethylstilbestrol Exposure 53
Fetal Diethylstilbestrol Syndrome 53


Orphanet epidemiological data:

diethylstilbestrol syndrome
Inheritance: Not applicable; Age of onset: All ages;


Summaries for Diethylstilbestrol Syndrome

NIH Rare Diseases : 53 Diethylstilbestrol syndrome (DES syndrome) refers to developmental or health problems caused by exposure to DES before birth (in utero). It can be associated with various reproductive tract differences, an increased risk for certain cancers, and infertility. DES is a synthetic form of the female hormoneestrogen prescribed to pregnant women between about 1940 and 1971 to prevent miscarriage and premature labor. It was first thought to be safe and effective, but studies soon found that DES was not effective in preventing these problems and caused other health problems in some children of mothers exposed during pregnancy. There also appears to be a slightly increased risk of breast cancer among women who took DES during pregnancy. It is important to note that not all people exposed to DES will have health problems due to the exposure. Females exposed to DES in utero may have reproductive tract differences affecting the uterus, fallopian tubes, cervix, and/or vagina. Examples include incomplete development of the uterus or cervix, a differently-shaped uterus or cervix, and a transverse vaginal septum. These differences may increase the risk of infertility. Females exposed to DES in utero also are more likely to experience various pregnancy complications including ectopic pregnancy, miscarriage, and preterm birth. However, most have healthy babies. Females exposed to DES in utero are also at increased risk to develop cancers such as vaginal or cervical clear cell adenocarcinoma, squamous cervical cancer, and possibly breast cancer. Males exposed to DES in utero have not been studied as extensively as females, but may be at increased risk for epididymal cysts, undescended testes, and inflammation or infection of the testicles. Males exposed to DES do not have an increased risk of infertility. Treatment for health problems associated with DES exposure depends on each person's signs and symptoms. Women who took DES in pregnancy are encouraged to inform their doctors and children of the exposure, and exposed children should inform their doctors so they can be monitored for possible health problems that may arise.

MalaCards based summary : Diethylstilbestrol Syndrome, also known as des syndrome, is related to adenocarcinoma and clear cell adenocarcinoma. The drugs Hydroxyurea and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include breast, uterus and cervix, and related phenotypes are hypoplasia of the uterus and cryptorchidism

Wikipedia : 76 Diethylstilbestrol (DES), also known as stilbestrol or stilboestrol, is an estrogen medication which is... more...

Related Diseases for Diethylstilbestrol Syndrome

Diseases related to Diethylstilbestrol Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 adenocarcinoma 9.4
2 clear cell adenocarcinoma 9.4

Symptoms & Phenotypes for Diethylstilbestrol Syndrome

Human phenotypes related to Diethylstilbestrol Syndrome:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000013
2 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
3 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
4 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
5 decreased fertility in females 59 32 hallmark (90%) Very frequent (99-80%) HP:0000868
6 small for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001518
7 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
8 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
9 breast carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0003002
10 central apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002871
11 premature ovarian insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0008209
12 testicular dysgenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008715
13 epididymal cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0030424
14 preeclampsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100602
15 vaginal neoplasm 59 32 hallmark (90%) Very frequent (99-80%) HP:0100650
16 abnormality of the testis 59 Very frequent (99-80%)
17 abnormality of the uterus 59 Very frequent (99-80%)
18 abnormal genital system morphology 59 Very frequent (99-80%)

Drugs & Therapeutics for Diethylstilbestrol Syndrome

Drugs for Diethylstilbestrol Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Hydroxyurea Approved Phase 4 127-07-1 3657
2 Hormone Antagonists Phase 4
3 Nucleic Acid Synthesis Inhibitors Phase 4
4 Hormones Phase 4
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
Oxytocin Approved, Vet_approved Phase 2,Not Applicable 50-56-6 439302 53477758
8 Central Nervous System Depressants Phase 2
9 GABA Agents Phase 2
10 Neurotransmitter Agents Phase 2
11 Histone Deacetylase Inhibitors Phase 2
12 Tranquilizing Agents Phase 2
13 Oxytocics Phase 2,Not Applicable
14 Anticonvulsants Phase 2
15 Psychotropic Drugs Phase 2
16 Antimanic Agents Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
2 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4 Siklos
3 Cell Therapy in Failure Syndromes in Limbal Stem Cells Unknown status NCT01619189 Phase 2
4 Comparative Study Between Prader-Willi Patients Who Take Oxytocin Versus Placebo Completed NCT01038570 Phase 2 Syntocinon®/- Spray;Physiological serum (Sodium chloride)
5 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
6 Natural History and Biological Study of Netherton Syndrome Unknown status NCT02081313 Not Applicable
7 Diagnostic Value of Heart-Fatty Acid Binding Protein and Ischemia Modified Albumin as Biochemical Markers on Non ST Segment Elevation Acute Coronary Syndrome at the Emergency Room. Completed NCT00714298 Not Applicable
8 Evaluation of a Training Program for Homozygous Sickle Cell Disease Patients Completed NCT02571088 Not Applicable
9 Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome Recruiting NCT02967822
10 AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome) Recruiting NCT02250456
11 Systematic Transcutaneous Oxymetry Use in Thoracic Outlet Syndrome Recruiting NCT03355274 Not Applicable
12 Follow-up of Prader Willi Syndrome Infants Treated by Oxytocin and Comparison With Not-treated Infants. Recruiting NCT03081832 Not Applicable Oxytocin
13 Oxytocin Intranasal Administrations in Children With Prader-Willi Syndrome Aged From 3 to 12 Years Recruiting NCT03114371 Not Applicable Oxytocin;Placebo;Oxytocin

Search NIH Clinical Center for Diethylstilbestrol Syndrome

Genetic Tests for Diethylstilbestrol Syndrome

Anatomical Context for Diethylstilbestrol Syndrome

MalaCards organs/tissues related to Diethylstilbestrol Syndrome:

Breast, Uterus, Cervix, Testes, Prostate, Heart, Testis

Publications for Diethylstilbestrol Syndrome

Articles related to Diethylstilbestrol Syndrome:

# Title Authors Year
The DES syndrome and clear cell adenocarcinoma in young women. ( 248302 )

Variations for Diethylstilbestrol Syndrome

Expression for Diethylstilbestrol Syndrome

Search GEO for disease gene expression data for Diethylstilbestrol Syndrome.

Pathways for Diethylstilbestrol Syndrome

GO Terms for Diethylstilbestrol Syndrome

Sources for Diethylstilbestrol Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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