MCID: UTR054
MIFTS: 24

Uterine Hypoplasia

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

Wikipedia : 76 Uterine hypoplasia, also known as naive uterus or infantile uterus, is a reproductive disorder... more...

Related Diseases for Uterine Hypoplasia

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

# Related Disease Score Top Affiliating Genes
1 ovarian dysgenesis 2 10.9
2 ovarian dysgenesis 3 10.9
3 ovarian dysgenesis 4 10.9
4 ovarian dysgenesis 5 10.9
5 progesterone resistance 9.7
6 46,xx sex reversal 1 9.2 BMP15 PSMC3IP
7 gonadal dysgenesis 9.0 BMP15 PSMC3IP
8 premature ovarian failure 1 9.0 BMP15 MCM9 SOHLH1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.26 BMP15 MCM9 PSMC3IP SOHLH1
2 reproductive system MP:0005389 8.92 BMP15 MCM9 PSMC3IP SOHLH1

Drugs & Therapeutics for Uterine Hypoplasia

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
2
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
3 Micronutrients
4 Trace Elements
5 Ergocalciferols
6 Vitamins
7 Bone Density Conservation Agents
8 Vitamin D2 Nutraceutical
9 Calciferol Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Health-Related QoL Among Women Receiving Hysterectomy in NTUH Unknown status NCT00155870
2 Vitamin D Deficiency and Pregnancy Rates in Women Undergoing Frozen Embryo Transfer Completed NCT01985672
3 Vitamin D Deficiency and Ovarian Reserve Among Infertile Patients Completed NCT01999608

Search NIH Clinical Center for Uterine Hypoplasia

Genetic Tests for Uterine Hypoplasia

Anatomical Context for Uterine Hypoplasia

MalaCards organs/tissues related to Uterine Hypoplasia:

41
Uterus, Bone, Cervix

Publications for Uterine Hypoplasia

Articles related to Uterine Hypoplasia:

# 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

ClinVar genetic disease variations for Uterine Hypoplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;X;t(X;8;2)(Xpter> Xq21.2: : 2q14.2> 2qter;8qter> 8p11.1: : Xq21.2> Xqter;2pter> 2q14.2: : 8p11.1> 8pter)dn Translocation Uncertain significance

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:

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

Molecular functions related to Uterine Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 8.8 MCM9 PSMC3IP SOHLH1

Sources for Uterine Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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