MCID: UTR054
MIFTS: 21

Uterine Hypoplasia

Categories: Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Uterine Hypoplasia

MalaCards integrated aliases for Uterine Hypoplasia:

Name: Uterine Hypoplasia 58

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q51.8
UMLS via Orphanet 71 C0266399
Orphanet 58 ORPHA180139

Summaries for Uterine Hypoplasia

MalaCards based summary : Uterine Hypoplasia is related to 46 xx gonadal dysgenesis and ovarian dysgenesis 2. An important gene associated with Uterine Hypoplasia is BMP15 (Bone Morphogenetic Protein 15). Affiliated tissues include uterus and cervix, and related phenotypes are endocrine/exocrine gland and reproductive system

Wikipedia : 73 Uterine hypoplasia, also known as naive uterus or infantile uterus, is a reproductive disorder... more...

Related Diseases for Uterine Hypoplasia

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 9.35 BMP15 ESR2 MCM9 PSMC3IP SOHLH1
2 reproductive system MP:0005389 9.1 BMP15 ESR2 MCM9 NUP107 PSMC3IP SOHLH1

Drugs & Therapeutics for Uterine Hypoplasia

Search Clinical Trials , NIH Clinical Center for Uterine Hypoplasia

Genetic Tests for Uterine Hypoplasia

Anatomical Context for Uterine Hypoplasia

MalaCards organs/tissues related to Uterine Hypoplasia:

40
Uterus, Cervix

Publications for Uterine Hypoplasia

Articles related to Uterine Hypoplasia:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect. 61
32067224 2020
2
The Mutation of the Ap3b1 Gene Causes Uterine Hypoplasia in Pearl Mice. 61
32016796 2020
3
Fatal consequences of uterine rupture in late pregnancy. 61
33076674 2020
4
Correction to: The Mutation of the Ap3b1 Gene Causes Uterine Hypoplasia in Pearl Mice. 61
32016797 2020
5
Single-cell sequencing of neonatal uterus reveals an Misr2+ endometrial progenitor indispensable for fertility. 61
31232694 2019
6
Classic congenital adrenal hyperplasia and its impact on reproduction. 61
30611420 2019
7
Schmidt’s syndrome: a difficult diagnosis in the Latin American context 61
29906034 2018
8
MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea. 61
27099773 2016
9
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. 61
26485283 2015
10
[RISK FACTORS AND CLINICAL PECULIARITIES OF SECONDARY OLIGOMENORRHEA IN ADOLESCENT GIRLS]. 61
26827453 2015
11
Ovarian dysgenesis in an alpaca with a minute chromosome 36. 61
23008444 2014
12
Lhx1 is required in Müllerian duct epithelium for uterine development. 61
24560999 2014
13
MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. 61
23271504 2013
14
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. 61
21963259 2011
15
Post-abortion hysteroscopy: a method for early diagnosis of congenital and acquired intrauterine causes of abortions. 61
21371805 2011
16
Defective female reproductive function in 1,25(OH)2D-deficient mice results from indirect effect mediated by extracellular calcium and/or phosphorus. 61
20807842 2010
17
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study. 61
18182450 2008
18
Diagnosis of Mullerian anomalies in adults: evaluation of practice. 61
17482176 2008
19
Absence of uterine tumours in CD-1 mice treated neonatally with subcutaneous tamoxifen or 4-hydroxyoestradiol. 61
17825543 2007
20
Subfertility, uterine hypoplasia, and partial progesterone resistance in mice lacking the Kruppel-like factor 9/basic transcription element-binding protein-1 (Bteb1) gene. 61
15117941 2004
21
Turner syndrome: a case of gonadal dysgenesis. 61
12395685 2002
22
Role of systemic and local IGF-I in the effects of estrogen on growth and epithelial proliferation of mouse uterus. 61
12072401 2002
23
Altered levels of growth-related and novel gene transcripts in reproductive and other tissues of female mice overexpressing spermidine/spermine N1-acetyltransferase (SSAT). 61
11709547 2002
24
Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. 61
11416220 2001
25
Operative hysteroscopy for infertility using normal saline solution and a coaxial bipolar electrode: a pilot study. 61
10920101 2000
26
Vitamin D is an important factor in estrogen biosynthesis of both female and male gonads. 61
10746634 2000
27
Genitourinary dysplasia in a cat. 61
10404490 1999
28
Case report of a 22-week fetus with 47,XXX karyotype and multiple lower mesodermal defects. 61
9841707 1999
29
NTP Toxicology and Carcinogenesis Studies of Theophylline (CAS No. 58-55-9) in F344/N Rats and B6C3F1 Mice (Feed and Gavage Studies). 61
12571677 1998
30
The selective estrogen receptor modulator, raloxifene: a segment II/III delivery study in rats. 61
9628551 1998
31
Uterine carcinoma in mice treated neonatally with tamoxifen. 61
9450472 1997
32
Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. 61
9241280 1997
33
Toxicity Studies of 1,3-Diphenylguanidine (CAS No. 102-06-7) Administered in Feed to F344/N Rats and B6C3F1 Mice. 61
11965241 1995
34
Case of the day. 7. Diagnosis: Turner's syndrome with uterine hypoplasia. 61
7933009 1994
35
[Turner's syndrome and pregnancy. A case report]. 61
8327822 1993
36
The role of office hysteroscopy in in vitro fertilization. 61
1459277 1992
37
Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome. 61
1598993 1992
38
The free-flap vaginoplasty; a new surgical procedure for the treatment of vaginal agenesis. 61
2004056 1991
39
Müllerian duct anomalies: MR imaging evaluation. 61
2202012 1990
40
[Uterine hypoplasia and infertility]. 61
2677841 1989
41
Protective family regimen in cleft lip and palate. 61
2479200 1989
42
Studies on the short-term toxicity of theophylline in rats and mice. 61
3371586 1988
43
Occurrence of genital tract abnormalities and bladder hernia in female mice exposed neonatally to tamoxifen. 61
3798455 1986
44
[Characteristics of the endometrial estrogen-receptor system in women with habitual abortion and uterine hypoplasia]. 61
2935012 1985
45
[Intracellular distribution of estrogen receptors in the human endometrium]. 61
4002654 1985
46
Reproductive tract abnormalities in female mice treated neonatally with tamoxifen. 61
3976766 1985
47
Intrauterine contraceptive devices. 61
21283376 1983
48
[Etiological factors in sterility and infertility as risk factors in future pregnancies]. 61
6664103 1983
49
The toxicologic evaluation of marcellomycin--an antineoplastic anthracycline antibiotic. 61
6861661 1983
50
[Characteristics of the reproductive system of women with certain forms of uterine hypoplasia]. 61
7158734 1982

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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.13 PSMC3IP ESR2 BMP15
2 female gamete generation GO:0007292 8.62 MCM9 BMP15

Sources for Uterine Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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