MCID: UTR054
MIFTS: 25

Uterine Hypoplasia

Categories: Fetal diseases, Rare diseases, Reproductive 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 Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include uterus, bone and cervix, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 ovarian dysgenesis 2 11.0
2 ovarian dysgenesis 3 11.0
3 ovarian dysgenesis 4 11.0
4 ovarian dysgenesis 5 11.0
5 ovarian dysgenesis 6 11.0
6 ovarian dysgenesis 7 11.0
7 ovarian dysgenesis 8 11.0
8 progesterone resistance 9.8
9 gonadal dysgenesis 9.6 BMP15 PSMC3IP
10 premature ovarian failure 1 9.5 BMP15 MCM9 SOHLH1
11 46,xx sex reversal 1 9.2 BMP15 MRPS22 NUP107 PSMC3IP

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



Diseases related to Uterine Hypoplasia

Symptoms & Phenotypes for Uterine Hypoplasia

GenomeRNAi Phenotypes related to Uterine Hypoplasia according to GeneCards Suite gene sharing:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.44 NUP107
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.44 NUP107
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.44 NUP107
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.44 BMP15
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.44 BMP15 NUP107
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.44 BMP15
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.44 NUP107
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.44 NUP107
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.44 BMP15
10 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.44 NUP107
11 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.44 BMP15
12 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.44 NUP107

MGI Mouse Phenotypes related to Uterine Hypoplasia:

47
# 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 9.02 BMP15 MCM9 NUP107 PSMC3IP SOHLH1

Drugs & Therapeutics for Uterine Hypoplasia

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
3
Calcium Approved, Nutraceutical 7440-70-2 271
4 Calciferol
5 Bone Density Conservation Agents
6 Ergocalciferols
7 Vitamin D2
8 Hormones
9 Nutrients
10 Trace Elements
11 Vitamins
12 Micronutrients
13 Calcium, Dietary

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:

42
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

Sources for Uterine Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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