MCID: VGN031
MIFTS: 26

Vaginal Atresia

Categories: Fetal diseases, Mental diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Vaginal Atresia

MalaCards integrated aliases for Vaginal Atresia:

Name: Vaginal Atresia 58 75

Characteristics:


Age Of Onset:

Childhood 58

Classifications:

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


External Ids:

ICD10 via Orphanet 32 Q52.0
UMLS via Orphanet 72 C1321884
Orphanet 58 ORPHA65681

Summaries for Vaginal Atresia

Orphanet: 58 A rare vaginal malformation characterized by congenital uterovaginal outflow tract obstruction due to failure of the urogenital sinus to form the caudal aspect of the vagina, which is then replaced by fibrous tissue. The malformation may occur as an isolated developmental defect or in association with other anomalies, such as cervical agenesis, imperforate hymen, and bicornuate bicervical uterus. Presenting signs and symptoms include primary amenorrhea, cyclic pelvic pain, abdominal pain, dyspareunia, pelvic mass, menstrual disorder, and periodic fever.

MalaCards based summary: Vaginal Atresia is related to mayer-rokitansky-kuster-hauser syndrome and meckel syndrome 12. Affiliated tissues include uterus, colon and small intestine, and related phenotypes are vaginal atresia and primary amenorrhea

Wikipedia: 75 Vaginal atresia is a condition in which the vagina is abnormally closed or absent. The main causes can... more...

Related Diseases for Vaginal Atresia

Diseases related to Vaginal Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 mayer-rokitansky-kuster-hauser syndrome 11.3
2 meckel syndrome 12 11.1
3 mayer-rokitansky-kuster-hauser syndrome type 1 11.1
4 amenorrhea 10.3
5 anus, imperforate 10.3
6 renal hypodysplasia/aplasia 1 10.3
7 hymen, imperforate 10.2
8 polydactyly 10.2
9 hemometra 10.2
10 vagina, absence of 10.2
11 septate vagina 10.1
12 hydronephrosis 10.1
13 endometriosis 10.1
14 urinary tract obstruction 10.1
15 anorectal anomalies 10.0
16 polydactyly, postaxial, type a1 10.0
17 bardet-biedl syndrome 1 10.0
18 mckusick-kaufman syndrome 10.0
19 bardet-biedl syndrome 2 10.0
20 bardet-biedl syndrome 10 10.0
21 bardet-biedl syndrome 11 10.0
22 bardet-biedl syndrome 12 10.0
23 renal hypodysplasia/aplasia 3 10.0
24 bardet-biedl syndrome 10.0
25 vaginitis 10.0
26 bicornuate uterus 10.0
27 transverse vaginal septum 10.0
28 adrenogenital syndrome 10.0
29 hypertelorism 9.8
30 meckel diverticulum 9.8
31 polydactyly, preaxial iv 9.8
32 pelvic organ prolapse 9.8
33 uterine anomalies 9.8
34 vater/vacterl association 9.8
35 fraser syndrome 1 9.8
36 ellis-van creveld syndrome 9.8
37 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
38 laurence-moon syndrome 9.8
39 manitoba oculotrichoanal syndrome 9.8
40 3-methylglutaconic aciduria, type iii 9.8
41 retinitis pigmentosa 9.8
42 robinow syndrome, autosomal recessive 1 9.8
43 sjogren syndrome 9.8
44 spondylocostal dysostosis 1, autosomal recessive 9.8
45 cervical cancer 9.8
46 scoliosis 9.8
47 robinow syndrome 9.8
48 anal fistula 9.8
49 bladder exstrophy-epispadias-cloacal exstrophy complex 9.8
50 bladder exstrophy 9.8

Graphical network of the top 20 diseases related to Vaginal Atresia:



Diseases related to Vaginal Atresia

Symptoms & Phenotypes for Vaginal Atresia

Human phenotypes related to Vaginal Atresia:

58 30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vaginal atresia 58 30 Obligate (100%) Obligate (100%)
HP:0000148
2 primary amenorrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000786
3 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002027
4 imperforate hymen 58 30 Frequent (33%) Frequent (79-30%)
HP:0030011
5 pelvic mass 58 30 Frequent (33%) Frequent (79-30%)
HP:0031501
6 abdominal mass 58 30 Frequent (33%) Frequent (79-30%)
HP:0031500
7 uterus didelphys 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003762
8 cervicitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030160
9 vaginal hematocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100674
10 bicornuate uterus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000813
11 transverse vaginal septum 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000145
12 abnormality of the uterus 58 Frequent (79-30%)

Drugs & Therapeutics for Vaginal Atresia

Search Clinical Trials, NIH Clinical Center for Vaginal Atresia

Genetic Tests for Vaginal Atresia

Anatomical Context for Vaginal Atresia

Organs/tissues related to Vaginal Atresia:

MalaCards : Uterus, Colon, Small Intestine, Kidney, Skin, Cervix, Heart

Publications for Vaginal Atresia

Articles related to Vaginal Atresia:

(show top 50) (show all 285)
# Title Authors PMID Year
1
Diagnosis and Management of Mullerian Anomalies Across Differing Resource Settings: Worldwide Adaptations. 62
35489471 2022
2
Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia. 62
36361644 2022
3
Spontaneous intrapartum Posterior Cul-de-sac rupture: A case report and literature review. 62
36268396 2022
4
Comparison of two different methods for cervicovaginal reconstruction: a long-term follow-up. 62
36112181 2022
5
Distal vaginal atresia: a report of a rare type found a late-term fetus and its histological comparison with the normal pelvis. 62
36071545 2022
6
First-Line Therapy for Vaginal Atresia. Conservative Treatment vs Surgical Techniques: Quandaries Looking at Numbers. 62
35842237 2022
7
Endoluminal Silicone-Covered Stenting in Children: Novel Applications and Lessons Learned. 62
35442816 2022
8
Minimally invasive vaginal approach to the uterovestibular anastomosis for cervicovaginal aplasia: a case series and review of literature. 62
35864274 2022
9
Distal Vaginal Atresia with Spontaneous Perforation: A Case Report. 62
34752931 2022
10
Modified balloon vaginoplasty for high position vaginal atresia. 62
35138456 2022
11
An approach to giant neonatal hydrocolpos with normally sited anus - Diagnosis and management including a novel one stage operation. 62
34518123 2021
12
ADAMTS18 regulates vaginal opening through influencing the fusion of Mullerian duct and apoptosis of vaginal epithelial cells in mice. 62
34271244 2021
13
Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin 62
32840097 2021
14
Secondary pyosalpinx after reconstructive surgery of vaginal agenesis patient with bilateral hematosalpinx: A case report. 62
34273654 2021
15
Vaginal Atresia with Cervical Agenesis, a Rare Congenital Malformation. 62
36254431 2021
16
Clinical features of congenital complete vaginal atresia combined with cervical aplasia: A retrospective study of 19 patients and literature review. 62
33829535 2021
17
Laparoscopically Assisted Uterovaginal Canalization and Vaginoplasty for Patients with Congenital Cervical and Vaginal Atresia: A Step-by-step Guide and Long-term Outcomes. 62
33321256 2021
18
Robotic assisted ileo-vaginoplasty for vaginal atresia. 62
33602611 2021
19
Secondary vaginal atresia following caesarean section: an unreported entity. 62
33622745 2021
20
Management of partial vaginal agenesis according to the Wharton-Sheares-George technique - a long-term follow-up. 62
31609140 2020
21
Winter syndrome: about an uncommon case report. 62
32316964 2020
22
Congenital vaginal atresia: about an uncommon case. 62
33244332 2020
23
Whole-Exome Sequencing Identified a TBX6 Loss of Function Mutation in a Patient with Distal Vaginal Atresia. 62
31233831 2019
24
Vaginal reconstruction for distal vaginal atresia without anorectal malformation: is the approach different? 62
31256298 2019
25
MRI features and differential diagnoses of congenital vaginal atresia. 62
30982355 2019
26
Diagnosis and Management of Hymenal Variants: ACOG Committee Opinion Summary, Number 780. 62
31135760 2019
27
Diagnosis and Management of Hymenal Variants: ACOG Committee Opinion, Number 780. 62
31135763 2019
28
Management of Acute Obstructive Uterovaginal Anomalies: ACOG Committee Opinion, Number 779. 62
31135762 2019
29
Management of Acute Obstructive Uterovaginal Anomalies: ACOG Committee Opinion Summary, Number 779. 62
31135759 2019
30
Congenital vesicouterine fistulas-A PRISMA-compliant systematic review. 62
30106189 2018
31
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report. 62
30407282 2018
32
Functioning left uterine horn with cervico-vaginal atresia and ovarian maldescent - an unclassified Müllerian anomaly treated with horn-vaginal anastomosis. 62
29553867 2018
33
[Chinese expert consensus on the diagnosis and treatment of Herlyn-Werner-Wunderlich syndrome, Mayer-Rokitansky-Küster-Hauser syndrome and vaginal atresia]. 62
29374884 2018
34
Vaginal atresia and cervical agenesis combined with asymmetric septate uterus: A case report of a new genital malformation and literature review. 62
29505013 2018
35
Menstrual, Sexual, and Obstetrical Outcomes after Vaginal Replacement for Vaginal Atresia Associated with Anorectal Malformation. 62
27846665 2017
36
Congenital vaginal atresia: A report of 39 cases in a regional Obstetrics and Gynecology Hospital. 62
29270755 2017
37
Erratum: Menstrual, Sexual, and Obstetrical Outcomes after Vaginal Replacement for Vaginal Atresia Associated with Anorectal Malformation. 62
28255963 2017
38
Clinical features and surgical procedures of congenital vaginal atresia-A retrospective study of 67 patients. 62
28915489 2017
39
Imperforate Hymen: Varied Presentation, New Associations, and Management. 62
28974871 2017
40
Outcomes in patients undergoing robotic reconstructive uterovaginal anastomosis of congenital cervical and vaginal atresia. 62
28371283 2017
41
Successful vaginal delivery at term after vaginal reconstruction with labium minus flaps in a patient with vaginal atresia: A rare case report. 62
28422365 2017
42
MRI in the evaluation of obstructive reproductive tract anomalies in paediatric patients. 62
28283284 2017
43
Spatiotemporal dynamics of androgen signaling underlie sexual differentiation and congenital malformations of the urethra and vagina. 62
27821748 2016
44
The clinical application of laparoscope-assisted peritoneal vaginoplasty for the treatment of congenital absence of vagina. 62
27087418 2016
45
Partial Cervical Agenesis and Complete Vaginal Atresia. 62
26620386 2016
46
The Herlyn-Werner-Wunderlich Syndrome - A Case Report with Radiological Review. 62
28058067 2016
47
Postoperative Course and Complications after Pull-through Vaginoplasty for Distal Vaginal Atresia. 62
26220349 2015
48
Bowel vaginoplasty in children and young women: an institutional experience with 55 patients. 62
25963059 2015
49
Robotic approach to vaginal atresia repair in an adolescent girl. 62
26229336 2015
50
Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management. 62
25746703 2015

Variations for Vaginal Atresia

Expression for Vaginal Atresia

Search GEO for disease gene expression data for Vaginal Atresia.

Pathways for Vaginal Atresia

GO Terms for Vaginal Atresia

Sources for Vaginal Atresia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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