MCID: UTR054
MIFTS: 21

Uterine Hypoplasia malady

Categories: Reproductive diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Uterine Hypoplasia

Summaries for Uterine Hypoplasia

MalaCards based summary : Uterine Hypoplasia is related to ovarian dysgenesis 4 and ovarian dysgenesis 3. An important gene associated with Uterine Hypoplasia is BMP15 (Bone Morphogenetic Protein 15). The drugs Menthol and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include cervix, uterus and bone, and related phenotypes are endocrine/exocrine gland and reproductive system

Related Diseases for Uterine Hypoplasia

Diseases related to Uterine Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 ovarian dysgenesis 4 10.8
2 ovarian dysgenesis 3 10.8
3 ovarian dysgenesis 2 10.8
4 8p23.1 duplication syndrome 9.9 BMP15 PSMC3IP
5 46 xx gonadal dysgenesis 9.9 BMP15 PSMC3IP
6 adrenoleukodystrophy 9.7 BMP15 MCM9
7 progesterone resistance 9.6
8 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 9.6 BMP15 MCM9 PSMC3IP

Graphical network of the top 20 diseases related to Uterine Hypoplasia:



Diseases related to Uterine Hypoplasia

Symptoms & Phenotypes for Uterine Hypoplasia

MGI Mouse Phenotypes related to Uterine Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.13 BMP15 MCM9 PSMC3IP
2 reproductive system MP:0005389 8.8 BMP15 MCM9 PSMC3IP

Drugs & Therapeutics for Uterine Hypoplasia

Drugs for Uterine Hypoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
3 vitamin d
4 Trace Elements
5 Ergocalciferols
6 Vitamins
7 Micronutrients
8 Bone Density Conservation Agents
9 Anesthetics
10 Anesthetics, Local
11 Pharmaceutical Solutions
12 Vitamin D2 Nutraceutical
13 Calciferol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome Recruiting NCT01736956 Phase 1, Phase 2
2 Autologous Bone Marrow-derived Mesenchymal Stem Cells for Atrophic Endometrium in Patients With Repeated IVF Failures Recruiting NCT03166189 Phase 2
3 Vitamin D Deficiency and Pregnancy Rates in Women Undergoing Frozen Embryo Transfer Completed NCT01985672
4 Vitamin D Deficiency and Ovarian Reserve Among Infertile Patients Completed NCT01999608
5 Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie Completed NCT02805491
6 Renal Agenesis Fetal Therapy Recruiting NCT03101891

Search NIH Clinical Center for Uterine Hypoplasia

Genetic Tests for Uterine Hypoplasia

Anatomical Context for Uterine Hypoplasia

MalaCards organs/tissues related to Uterine Hypoplasia:

39
Cervix, Uterus, Bone

Publications for Uterine Hypoplasia

Articles related to Uterine Hypoplasia:

id Title Authors Year
1
Subfertility, uterine hypoplasia, and partial progesterone resistance in mice lacking the Kruppel-like factor 9/basic transcription element-binding protein-1 (Bteb1) gene. ( 15117941 )
2004
2
Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. ( 9241280 )
1997
3
Case of the day. 7. Diagnosis: Turner's syndrome with uterine hypoplasia. ( 7933009 )
1994
4
Depot estrogen as a monthly contraceptive in nulliparous women with mild uterine hypoplasia. ( 5008627 )
1972
5
Treatment of uterine hypoplasia by estrogens. ( 14019915 )
1963
6
The treatment of uterine hypoplasia by provoking pseudopregnancy with new progestin preparations. ( 13770451 )
1961
7
Primary endometrial aplasia. Congenitial absence of the endometrium without associated endocrine dysfunction or uterine hypoplasia. ( 13688829 )
1961
8
A preliminary series of cases of uterine hypoplasia treated by local injection of an oestrogenic emulsion. ( 14368390 )
1955

Variations for Uterine Hypoplasia

Expression for Uterine Hypoplasia

Search GEO for disease gene expression data for Uterine Hypoplasia.

Pathways for Uterine Hypoplasia

GO Terms for Uterine Hypoplasia

Biological processes related to Uterine Hypoplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 female gamete generation GO:0007292 8.62 BMP15 MCM9

Sources for Uterine Hypoplasia

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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