MCID: VGN031
MIFTS: 19

Vaginal Atresia

Categories: Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Vaginal Atresia

MalaCards integrated aliases for Vaginal Atresia:

Name: Vaginal Atresia 58

Characteristics:

Orphanet epidemiological data:

58
vaginal atresia
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:

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


External Ids:

ICD10 via Orphanet 33 Q52.0
UMLS via Orphanet 72 C1321884
Orphanet 58 ORPHA65681

Summaries for Vaginal Atresia

MalaCards based summary : Vaginal Atresia is related to mayer-rokitansky-kuster-hauser syndrome and mckusick-kaufman syndrome. Affiliated tissues include uterus, colon and kidney.

Wikipedia : 74 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 63)
# Related Disease Score Top Affiliating Genes
1 mayer-rokitansky-kuster-hauser syndrome 12.0
2 mckusick-kaufman syndrome 11.6
3 renal hypodysplasia/aplasia 1 10.2
4 polydactyly 10.2
5 amenorrhea 10.2
6 hemometra 10.2
7 hydronephrosis 10.1
8 endometriosis 10.1
9 anorectal anomalies 10.0
10 polydactyly, postaxial, type a1 10.0
11 bardet-biedl syndrome 10.0
12 constipation 10.0
13 vaginitis 10.0
14 urinary tract obstruction 10.0
15 transverse vaginal septum 10.0
16 adrenogenital syndrome 10.0
17 hypertelorism 9.9
18 meckel diverticulum 9.9
19 tracheoesophageal fistula with or without esophageal atresia 9.9
20 uterine anomalies 9.9
21 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 9.9
22 anus, imperforate 9.9
23 fraser syndrome 1 9.9
24 ellis-van creveld syndrome 9.9
25 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
26 manitoba oculotrichoanal syndrome 9.9
27 3-methylglutaconic aciduria, type iii 9.9
28 retinitis pigmentosa 9.9
29 robinow syndrome, autosomal recessive 1 9.9
30 exstrophy of bladder 9.9
31 cervical cancer 9.9
32 autosomal recessive disease 9.9
33 scoliosis 9.9
34 robinow syndrome 9.9
35 anal fistula 9.9
36 neuroretinitis 9.9
37 klippel-feil syndrome 9.9
38 esophageal atresia 9.9
39 endometriosis of ovary 9.9
40 acute cystitis 9.9
41 vacterl association 9.9
42 hypogonadism 9.9
43 adenocarcinoma 9.9
44 acute kidney failure 9.9
45 retinitis 9.9
46 pleural empyema 9.9
47 gynatresia 9.9
48 orofaciodigital syndrome 9.9
49 kidney disease 9.9
50 hypogonadotropism 9.9

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



Diseases related to Vaginal Atresia

Symptoms & Phenotypes for Vaginal Atresia

Drugs & Therapeutics for Vaginal Atresia

Search Clinical Trials , NIH Clinical Center for Vaginal Atresia

Genetic Tests for Vaginal Atresia

Anatomical Context for Vaginal Atresia

MalaCards organs/tissues related to Vaginal Atresia:

40
Uterus, Colon, Kidney, Skin, Heart, Brain, Small Intestine

Publications for Vaginal Atresia

Articles related to Vaginal Atresia:

(show top 50) (show all 265)
# Title Authors PMID Year
1
Whole-Exome Sequencing Identified a TBX6 Loss of Function Mutation in a Patient with Distal Vaginal Atresia. 61
31233831 2019
2
Management of partial vaginal agenesis according to the Wharton-Sheares-George technique - a long-term follow-up. 61
31609140 2019
3
Vaginal reconstruction for distal vaginal atresia without anorectal malformation: is the approach different? 61
31256298 2019
4
MRI features and differential diagnoses of congenital vaginal atresia. 61
30982355 2019
5
Diagnosis and Management of Hymenal Variants: ACOG Committee Opinion Summary, Number 780. 61
31135760 2019
6
Diagnosis and Management of Hymenal Variants: ACOG Committee Opinion, Number 780. 61
31135763 2019
7
Management of Acute Obstructive Uterovaginal Anomalies: ACOG Committee Opinion Summary, Number 779. 61
31135759 2019
8
Management of Acute Obstructive Uterovaginal Anomalies: ACOG Committee Opinion, Number 779. 61
31135762 2019
9
Congenital vesicouterine fistulas-A PRISMA-compliant systematic review. 61
30106189 2018
10
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. 61
30407282 2018
11
Functioning left uterine horn with cervico-vaginal atresia and ovarian maldescent - an unclassified Müllerian anomaly treated with horn-vaginal anastomosis. 61
29553867 2018
12
Vaginal atresia and cervical agenesis combined with asymmetric septate uterus: A case report of a new genital malformation and literature review. 61
29505013 2018
13
[Chinese expert consensus on the diagnosis and treatment of Herlyn-Werner-Wunderlich syndrome, Mayer-Rokitansky-Küster-Hauser syndrome and vaginal atresia]. 61
29374884 2018
14
Congenital vaginal atresia: A report of 39 cases in a regional Obstetrics and Gynecology Hospital. 61
29270755 2017
15
Menstrual, Sexual, and Obstetrical Outcomes after Vaginal Replacement for Vaginal Atresia Associated with Anorectal Malformation. 61
27846665 2017
16
Erratum: Menstrual, Sexual, and Obstetrical Outcomes after Vaginal Replacement for Vaginal Atresia Associated with Anorectal Malformation. 61
28255963 2017
17
Imperforate Hymen: Varied Presentation, New Associations, and Management. 61
28974871 2017
18
Clinical features and surgical procedures of congenital vaginal atresia-A retrospective study of 67 patients. 61
28915489 2017
19
Outcomes in patients undergoing robotic reconstructive uterovaginal anastomosis of congenital cervical and vaginal atresia. 61
28371283 2017
20
Successful vaginal delivery at term after vaginal reconstruction with labium minus flaps in a patient with vaginal atresia: A rare case report. 61
28422365 2017
21
MRI in the evaluation of obstructive reproductive tract anomalies in paediatric patients. 61
28283284 2017
22
Spatiotemporal dynamics of androgen signaling underlie sexual differentiation and congenital malformations of the urethra and vagina. 61
27821748 2016
23
The clinical application of laparoscope-assisted peritoneal vaginoplasty for the treatment of congenital absence of vagina. 61
27087418 2016
24
Partial Cervical Agenesis and Complete Vaginal Atresia. 61
26620386 2016
25
The Herlyn-Werner-Wunderlich Syndrome - A Case Report with Radiological Review. 61
28058067 2016
26
Postoperative Course and Complications after Pull-through Vaginoplasty for Distal Vaginal Atresia. 61
26220349 2015
27
Bowel vaginoplasty in children and young women: an institutional experience with 55 patients. 61
25963059 2015
28
Robotic approach to vaginal atresia repair in an adolescent girl. 61
26229336 2015
29
Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management. 61
25746703 2015
30
[Magnetic resonance imaging as supplement to clinical examination by suspicion of haematocolpos]. 61
25612983 2015
31
Newer surgical approach to prevent re-stenosis following canalisation of cervico-vaginal atresia. 61
26076309 2015
32
A rare reason of the elevated serum Ca 19-9 and Ca 125 levels in neonatal period: Hydrometrocolpos due to distal vaginal atresia. 61
25912008 2015
33
Vaginal atresia in a case of fraser syndrome. 61
25404827 2014
34
Secondary vaginal atresia treated with vaginoplasty using amnion graft: a case report. 61
25584275 2014
35
Rectovestibular fistula with vaginal atresia: our experience and a proposed course of management. 61
24793106 2014
36
Fetal ascites and hydrometrocolpos due to persistent urogenital sinus and cloaca: a rare congenital anomaly and review of literature. 61
24554677 2014
37
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. 61
23913778 2013
38
Anterior sagittal transrectal approach (ASTRA) for vaginoplasty after complications of posterior sagittal anorectoplasty. 61
23912372 2013
39
Management of rectal stenosis with endoscopic balloon dilatation. 61
23583158 2013
40
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. 61
23401257 2013
41
Vaginal switch--a useful technical alternative to vaginal replacement for select cases of cloaca and urogenital sinus. 61
23414866 2013
42
[Hydrocolpos and hydrometrocolpos in newborns]. 61
23245865 2013
43
Spectrum of etiologies causing hydrometrocolpos. 61
26023425 2013
44
Cystic malformation of lower female genital tract resulting in hydrops fetalis: a case report. 61
23113723 2013
45
Mucocolpos in a toddler: central precocious puberty with vaginal atresia. 61
22982793 2012
46
Vaginal malformations: a proposed classification based on embryological, anatomical and clinical criteria and their surgical management (an analysis of 167 cases). 61
22806600 2012
47
Successful management of a thick transverse vaginal septum with a vesicovaginal fistula by vaginal expansion and surgery. 61
22109703 2012
48
Laparoscopic-assisted perineal pull-through vaginoplasty. 61
22498409 2012
49
Vaginal agenesis or distal vaginal atresia associated with anorectal malformations. 61
22424355 2012
50
Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation. 61
22499313 2012

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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