Vaginal Atresia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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
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:

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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%)

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Drugs & Therapeutics for Vaginal Atresia

Search Clinical Trials, NIH Clinical Center for Vaginal Atresia

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Genetic Tests for Vaginal Atresia

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Anatomical Context for Vaginal Atresia

Organs/tissues related to Vaginal Atresia:

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

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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	Dietrich JE	35489471	2022
2	Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia. ⁶²	Kang J...Wang W	36361644	2022
3	Spontaneous intrapartum Posterior Cul-de-sac rupture: A case report and literature review. ⁶²	Abbas R...Kurdi B	36268396	2022
4	Comparison of two different methods for cervicovaginal reconstruction: a long-term follow-up. ⁶²	Liu X...Zhang X	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	Kim JH...Hinata N	36071545	2022
6	First-Line Therapy for Vaginal Atresia. Conservative Treatment vs Surgical Techniques: Quandaries Looking at Numbers. ⁶²	Lucchetti MC...Tassi A	35842237	2022
7	Endoluminal Silicone-Covered Stenting in Children: Novel Applications and Lessons Learned. ⁶²	Patel AD...Lovvorn HN	35442816	2022
8	Minimally invasive vaginal approach to the uterovestibular anastomosis for cervicovaginal aplasia: a case series and review of literature. ⁶²	Mahajan NN...Pophalkar M	35864274	2022
9	Distal Vaginal Atresia with Spontaneous Perforation: A Case Report. ⁶²	Fei YF...Dendrinos ML	34752931	2022
10	Modified balloon vaginoplasty for high position vaginal atresia. ⁶²	Zhang M...Huang X	35138456	2022
11	An approach to giant neonatal hydrocolpos with normally sited anus - Diagnosis and management including a novel one stage operation. ⁶²	Kurian JJ...Sen S	34518123	2021
12	ADAMTS18 regulates vaginal opening through influencing the fusion of Mullerian duct and apoptosis of vaginal epithelial cells in mice. ⁶²	Lin X...Zhang W	34271244	2021
13	Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin ⁶²	Bizzarri C...Porzio O	32840097	2021
14	Secondary pyosalpinx after reconstructive surgery of vaginal agenesis patient with bilateral hematosalpinx: A case report. ⁶²	Moegni F...Harzif AK	34273654	2021
15	Vaginal Atresia with Cervical Agenesis, a Rare Congenital Malformation. ⁶²	Regmi DR...Maharjan S	36254431	2021
16	Clinical features of congenital complete vaginal atresia combined with cervical aplasia: A retrospective study of 19 patients and literature review. ⁶²	Mei L...Niu X	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	Kang J...Zhu L	33321256	2021
18	Robotic assisted ileo-vaginoplasty for vaginal atresia. ⁶²	Gundeti MS...Mohammad M	33602611	2021
19	Secondary vaginal atresia following caesarean section: an unreported entity. ⁶²	Sethi P...Kumari S	33622745	2021
20	Management of partial vaginal agenesis according to the Wharton-Sheares-George technique - a long-term follow-up. ⁶²	Zhang X...Hua K	31609140	2020
21	Winter syndrome: about an uncommon case report. ⁶²	Slaoui A...Baydada A	32316964	2020
22	Congenital vaginal atresia: about an uncommon case. ⁶²	Slaoui A...Baydada A	33244332	2020
23	Whole-Exome Sequencing Identified a TBX6 Loss of Function Mutation in a Patient with Distal Vaginal Atresia. ⁶²	Chu C...Yin C	31233831	2019
24	Vaginal reconstruction for distal vaginal atresia without anorectal malformation: is the approach different? ⁶²	Bischoff A...Pena A	31256298	2019
25	MRI features and differential diagnoses of congenital vaginal atresia. ⁶²	Xu S...Xue Q	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	Jozwik M...Jozwik M	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	Kang J...Zhu L	30407282	2018
32	Functioning left uterine horn with cervico-vaginal atresia and ovarian maldescent - an unclassified Müllerian anomaly treated with horn-vaginal anastomosis. ⁶²	Bagga R...Singh T	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	Zhu L...Song L	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	Han TT...Zhu L	29505013	2018
35	Menstrual, Sexual, and Obstetrical Outcomes after Vaginal Replacement for Vaginal Atresia Associated with Anorectal Malformation. ⁶²	Skerritt C...Levitt M	27846665	2017
36	Congenital vaginal atresia: A report of 39 cases in a regional Obstetrics and Gynecology Hospital. ⁶²	Zhang M...Xu CJ	29270755	2017
37	Erratum: Menstrual, Sexual, and Obstetrical Outcomes after Vaginal Replacement for Vaginal Atresia Associated with Anorectal Malformation. ⁶²	Skerritt C...Levitt M	28255963	2017
38	Clinical features and surgical procedures of congenital vaginal atresia-A retrospective study of 67 patients. ⁶²	Xie Z...Zhang Y	28915489	2017
39	Imperforate Hymen: Varied Presentation, New Associations, and Management. ⁶²	Ramareddy RS...Alladi A	28974871	2017
40	Outcomes in patients undergoing robotic reconstructive uterovaginal anastomosis of congenital cervical and vaginal atresia. ⁶²	Zhang Y...Hua K	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	Liu Y...Wang YF	28422365	2017
42	MRI in the evaluation of obstructive reproductive tract anomalies in paediatric patients. ⁶²	Zhang H...Chen X	28283284	2017
43	Spatiotemporal dynamics of androgen signaling underlie sexual differentiation and congenital malformations of the urethra and vagina. ⁶²	Larkins CE...Cohn MJ	27821748	2016
44	The clinical application of laparoscope-assisted peritoneal vaginoplasty for the treatment of congenital absence of vagina. ⁶²	Qin C...Fang Y	27087418	2016
45	Partial Cervical Agenesis and Complete Vaginal Atresia. ⁶²	Kimble R...Sutton B	26620386	2016
46	The Herlyn-Werner-Wunderlich Syndrome - A Case Report with Radiological Review. ⁶²	Khaladkar SM...Kondapavuluri SK	28058067	2016
47	Postoperative Course and Complications after Pull-through Vaginoplasty for Distal Vaginal Atresia. ⁶²	Mansouri R...Dietrich JE	26220349	2015
48	Bowel vaginoplasty in children and young women: an institutional experience with 55 patients. ⁶²	Kisku S...Kishore R	25963059	2015
49	Robotic approach to vaginal atresia repair in an adolescent girl. ⁶²	Pushkar P...Chowdhary SK	26229336	2015
50	Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management. ⁶²	Pandya KA...Teitelbaum DH	25746703	2015

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Genes for Vaginal Atresia

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Variations for Vaginal Atresia

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Expression for Vaginal Atresia

Search GEO for disease gene expression data for Vaginal Atresia.

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Pathways for Vaginal Atresia

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GO Terms for Vaginal Atresia

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MCID: VGN031 MIFTS: 26	Vaginal Atresia Categories: Fetal diseases, Mental diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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