MCID: DTH005
MIFTS: 25

Diethylstilbestrol Syndrome

Categories: Rare diseases, Reproductive diseases, Fetal diseases

Aliases & Classifications for Diethylstilbestrol Syndrome

MalaCards integrated aliases for Diethylstilbestrol Syndrome:

Name: Diethylstilbestrol Syndrome 50 56
Des Syndrome 50 56 69
Diethylstilbestrol Embryofetopathy 50 56
Distilbene Embryofetopathy 50 56
Des Embryofetopathy 50 56
Antenatal Diethylstilbestrol Exposure 50
Fetal Diethylstilbestrol Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
diethylstilbestrol syndrome
Inheritance: Not applicable; Age of onset: All ages;

Classifications:



Summaries for Diethylstilbestrol Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1916disease definitiondiethylstilbestrol (des) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to des during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. reproductive malformations reported in des syndrome include small, t-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. des, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.visit the orphanet disease page for more resources. last updated: 11/19/2015

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

Wikipedia : 72 Diethylstilbestrol (DES), also known formerly (and inappropriately) as stilboestrol, is a synthetic,... more...

Related Diseases for Diethylstilbestrol Syndrome

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

id Related Disease Score Top Affiliating Genes
1 adenocarcinoma 9.3
2 clear cell adenocarcinoma 9.3

Symptoms & Phenotypes for Diethylstilbestrol Syndrome

Human phenotypes related to Diethylstilbestrol Syndrome:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the uterus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000013
2 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
3 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
4 micropenis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000054
5 decreased fertility in females 56 32 hallmark (90%) Very frequent (99-80%) HP:0000868
6 small for gestational age 56 32 hallmark (90%) Very frequent (99-80%) HP:0001518
7 premature birth 56 32 hallmark (90%) Very frequent (99-80%) HP:0001622
8 melanoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002861
9 breast carcinoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0003002
10 central apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002871
11 testicular dysgenesis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008715
12 epididymal cyst 56 32 hallmark (90%) Very frequent (99-80%) HP:0030424
13 preeclampsia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100602
14 vaginal neoplasm 56 32 hallmark (90%) Very frequent (99-80%) HP:0100650
15 abnormality of the testis 56 Very frequent (99-80%)
16 abnormality of the uterus 56 Very frequent (99-80%)
17 premature ovarian failure 56 Very frequent (99-80%)
18 abnormal genital system morphology 56 Very frequent (99-80%)
19 premature ovarian insufficiency 32 hallmark (90%) HP:0008209

Drugs & Therapeutics for Diethylstilbestrol Syndrome

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

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 4 127-07-1 3657
2 Hormone Antagonists Phase 4
3 Hormones Phase 4
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
5 Nucleic Acid Synthesis Inhibitors Phase 4
6
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
7
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
8 Oxytocics Phase 2
9 Anticonvulsants Phase 2
10 Antimanic Agents Phase 2
11 Central Nervous System Depressants Phase 2
12 GABA Agents Phase 2
13 Histone Deacetylase Inhibitors Phase 2
14 Neurotransmitter Agents Phase 2
15 Psychotropic Drugs Phase 2
16 Tranquilizing Agents Phase 2

Interventional clinical trials:

(show all 13)

id 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 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
7 Evaluation of a Training Program for Homozygous Sickle Cell Disease Patients Completed NCT02571088
8 Eyelash Line Resection for Entropion Associated With Down's Syndrome Completed NCT01758718
9 Natural History and Biological Study of Netherton Syndrome Recruiting NCT02081313
10 Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome Recruiting NCT02967822
11 AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome) Recruiting NCT02250456
12 Follow-up of Prader Willi Syndrome Infants Treated by Oxytocin and Comparison With Not-treated Infants. Recruiting NCT03081832 Oxytocin
13 Oxytocin Intranasal Administrations in Children With Prader-Willi Syndrome Aged From 3 to 12 Years Recruiting NCT03114371 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:

39
Breast, Cervix, Prostate, Uterus, Heart, Testis

Publications for Diethylstilbestrol Syndrome

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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