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MCID: MYR002
MIFTS: 59

Mayer-Rokitansky-Kuster-Hauser Syndrome

Categories: Nephrological diseases, Reproductive diseases, Fetal diseases, Rare diseases, Ear diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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MalaCards integrated aliases for Mayer-Rokitansky-Kuster-Hauser Syndrome:

Name: Mayer-Rokitansky-Kuster-Hauser Syndrome 57 75 25 59
Mrkh Syndrome 57 76 25 59 75
Rokitansky Kuster Hauser Syndrome 25 29 73
Congenital Absence of Uterus and Vagina 57 59
Rokitansky Syndrome 25 59
Mrkh Anomaly 57 75
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 57
Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 59
Congenital Absence of Uterus and Vagina; Cauv 57
Congenital Absence of the Uterus and Vagina 25
Von Mayer-Rokitansky-Kuster Anomaly 57
Rokitansky-Kuster-Hauser Syndrome 75
Mullerian Aplasia/dysgenesis 57
Genital Renal Ear Syndrome 25
Mullerian Dysgenesis 25
Mrkh Syndrome Type 1 59
Rokitansky Sequence 59
Mullerian Agenesis 25
Mullerian Aplasia 25
Rkh Syndrome 75
Mrk Anomaly 57
Cauv 57

Characteristics:

Orphanet epidemiological data:

59
mayer-rokitansky-küster-hauser syndrome type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy;
mayer-rokitansky-küster-hauser syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mayer-rokitansky-kuster-hauser syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Nephrological diseases Reproductive diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 277000
UMLS via Orphanet 74 C0431648 C1698581
ICD10 via Orphanet 34 Q51.8
MedGen 42 C1698581
UMLS 73 C1698581
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Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

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OMIM : 57 Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830). (277000)

MalaCards based summary : Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to murcs association and rokitansky sequence. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is LHX1 (LIM Homeobox 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Tacrolimus and Calcineurin Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include uterus, ovary and cervix, and related phenotypes are ectopic kidney and abnormal form of the vertebral bodies

UniProtKB/Swiss-Prot : 75 Rokitansky-Kuster-Hauser syndrome: Characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls.

Wikipedia : 76 Müllerian agenesis, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) or vaginal agenesis, is... more...

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Related Diseases for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 murcs association 30.0 TBX3 TBX5 TP63 WNT4
2 rokitansky sequence 12.3
3 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.9
4 mullerian aplasia 11.6
5 vaginitis 10.8
6 leiomyoma 10.7
7 gonadal dysgenesis 10.7
8 endometriosis 10.6
9 type i 10.6
10 adenomyosis 10.5
11 exstrophy of bladder 10.4 TP63 WNT9B
12 mullerian aplasia and hyperandrogenism 10.4
13 neurofibromatosis, type i 10.4
14 silver-russell syndrome 10.4
15 vater/vacterl association 10.4
16 androgen insensitivity syndrome 10.4
17 aging 10.4
18 gonadal agenesis 10.4
19 hyperprolactinemia 10.4
20 chronic kidney failure 10.4
21 vaginal cancer 10.4
22 esophagitis 10.4
23 von willebrand's disease 10.4
24 urethritis 10.4
25 amenorrhea 10.4
26 vacterl association 10.4
27 endodermal sinus tumor 10.4
28 teratoma 10.4
29 duodenal obstruction 10.4
30 kidney disease 10.4
31 situs inversus 10.4
32 peritonitis 10.4
33 duodenitis 10.4
34 complete androgen insensitivity syndrome 10.4
35 dextrocardia with situs inversus 10.4
36 fibromatosis 10.4
37 pulmonary venous return anomaly 10.4
38 acheiropody 10.2 TBX3 TBX5
39 ulnar-mammary syndrome 10.1 TBX3 TBX5
40 chromosome 17q12 deletion syndrome 9.8 HNF1B LHX1
41 oligomeganephronia 9.7 HNF1B PAX2
42 dandy-walker complex 9.7
43 split-hand/foot malformation 2 9.6 PAX2 TP63
44 renal adenoma 9.5 PAX2 WT1
45 focal segmental glomerulosclerosis 1 9.4 PAX2 WT1
46 denys-drash syndrome 9.1 PAX2 WT1
47 diffuse mesangial sclerosis 9.0 LAMC1 PAX2 WT1

Graphical network of the top 20 diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome:



Diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome
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Symptoms & Phenotypes for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Female:
normal external genitalia

Endocrine Features:
amenorrhea, primary
normal female secondary sexual characteristics

Genitourinary Internal Genitalia Female:
aplasia of mullerian duct derivatives
dysgenesis of mullerian duct derivatives
functional ovaries
congenital absence or severe hypoplasia of the upper two-thirds of vagina
congenital absence or severe hypoplasia of uterus
more

Clinical features from OMIM:

277000

Human phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
2 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
3 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
4 vertebral fusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002948
5 abnormality of the sacrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0005107
6 unilateral renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000122
7 aplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000151
8 hypoplasia of the vagina 59 32 hallmark (90%) Very frequent (99-80%) HP:0008726
9 abnormality of the kidney 59 Frequent (79-30%)
10 vertebral segmentation defect 59 Occasional (29-5%)
11 hypoplasia of the uterus 32 HP:0000013
12 amenorrhea 32 HP:0000141
13 aplasia of the vagina 32 HP:0003250

GenomeRNAi Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.92 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.92 TBX3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.92 TBX5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.92 TBX5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.92 SHOX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.92 WT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.92 SHOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.92 SHOX
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.92 SHOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.92 WT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.92 HNF1B
12 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.92 TBX3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.92 TBX5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.92 SHOX
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.92 SHOX
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.92 HNF1B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.92 HNF1B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.92 TBX3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.92 TBX3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.92 TBX5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.92 HNF1B WT1 SHOX TBX3 TBX5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.92 WT1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.92 SHOX
24 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.92 WT1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.92 WT1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.92 HNF1B WT1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.92 WT1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.92 HNF1B
29 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.92 HNF1B
30 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.92 TBX5
31 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.92 TBX5
32 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.92 HNF1B
33 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.92 HNF1B
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.92 WT1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.92 TBX3
36 Decreased viability in esophageal squamous lineage GR00235-A 9.61 WNT4 WNT5A DLG1 HNF1B LHX1 SHOX

MGI Mouse Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.29 TP63 WNT4 WNT5A WNT7A WNT9B WT1
2 endocrine/exocrine gland MP:0005379 10.2 LAMC1 LHX1 PAX2 TBX3 TP63 WNT4
3 growth/size/body region MP:0005378 10.17 DLG1 HNF1B LAMC1 LHX1 TBX3 TBX5
4 cardiovascular system MP:0005385 10.15 LAMC1 LHX1 PAX2 TBX3 TBX5 TP63
5 mortality/aging MP:0010768 10.13 DLG1 HNF1B LAMC1 LHX1 PAX2 TBX3
6 homeostasis/metabolism MP:0005376 10.1 GALT HNF1B LAMC1 LHX1 TBX3 TBX5
7 limbs/digits/tail MP:0005371 9.91 DLG1 TBX3 TBX5 TP63 WNT4 WNT5A
8 muscle MP:0005369 9.86 DLG1 HNF1B LAMC1 TBX3 TBX5 TP63
9 normal MP:0002873 9.81 LAMC1 LHX1 TBX3 TBX5 TP63 WNT4
10 renal/urinary system MP:0005367 9.65 DLG1 HNF1B LAMC1 LHX1 PAX2 TP63
11 reproductive system MP:0005389 9.36 DLG1 LAMC1 LHX1 PAX2 TBX3 TP63
Sources

Drugs & Therapeutics for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Drugs for Mayer-Rokitansky-Kuster-Hauser Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492
2 Calcineurin Inhibitors Phase 3
3 Immunosuppressive Agents Phase 3,Not Applicable
4
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078
5
Mycophenolic acid Approved Not Applicable 24280-93-1 446541

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study Recruiting NCT03277430 Phase 3 Tacrolimus
2 Assessment of Quality of Global and Sexual Life and Impact of Surgical and Non Surgical Vaginal Aplasia in Patients With a Rokitansky Syndrome Unknown status NCT01911884 Not Applicable
3 Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome Recruiting NCT02967822
4 Uterus Transplantation From a Multi-organ Donor Recruiting NCT03252795 Not Applicable
5 Penn Uterine Transplantation for Uterine Factor Infertility Trial Recruiting NCT03307356 Not Applicable
6 Uterine Transplantation and Pregnancy Induction in Women Affected by Absolute Uterine Infertility Recruiting NCT02656550 Not Applicable

Search NIH Clinical Center for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Genetic Tests for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Genetic tests related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

# Genetic test Affiliating Genes
1 Rokitansky Kuster Hauser Syndrome 29
Sources

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

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MalaCards organs/tissues related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

41
Uterus, Ovary, Cervix, Kidney, Lung, Colon
Sources

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Articles related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

(show top 50) (show all 120)
# Title Authors Year
1
Mayer-Rokitansky-Kuster-Hauser Syndrome: A Unique Case Presentation. ( 29415121 )
2018
2
Intensive vaginal dilation using adjuvant treatments in women with Mayer-Rokitansky-Kuster-Hauser syndrome: retrospective cohort study. ( 28960241 )
2018
3
Genetics of Mayer-Rokitansky-KA1ster-Hauser (MRKH) syndrome. ( 27716927 )
2017
4
Spectrum of MRI Appearance of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome in Primary Amenorrhea Patients. ( 28893003 )
2017
5
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families. ( 28600106 )
2017
6
Evaluation of amnion in creation of neovagina in women with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28624115 )
2017
7
Mayer-Rokitansky-Kuster-Hauser syndrome associated with rectovestibular fistula. ( 28913139 )
2017
8
A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis. ( 27190929 )
2016
9
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3. ( 27478502 )
2016
10
Rare Case of Leiomyoma and Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27843659 )
2016
11
An unusual cause of urinary incontinence: Urethral coitus in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 27617320 )
2016
12
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
13
Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome. ( 27241658 )
2016
14
Intra-peritoneal leiomyoma of the round ligament in a patient with Mayer-Rokitansky-KA1ster-Hauser (MRKH) syndrome. ( 28210483 )
2016
15
Laparoscopic Davydov Procedure for the Creation of a Neovagina in Patients with Mayer-Rokitansky-Kuster-Hauser Syndrome: Analysis of 7 Cases. ( 27344998 )
2016
16
Robotic Sigmoid Vaginoplasty in an Adolescent Girl With Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27093154 )
2016
17
Long-Term Outcomes of Laparoscopic Bean Vaginoplasty (Modified Vecchietti Procedure) for Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27120395 )
2016
18
Epigenetic modifications of primordial reproductive tract: A common etiologic pathway for Mayer-Rokitansky-Kuster-Hauser Syndrome and endometriosis? ( 27063075 )
2016
19
A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas in hypoplastic uterus. ( 26752861 )
2015
20
Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas. ( 25468053 )
2015
21
Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence. ( 26454229 )
2015
22
Mayer-Rokitansky-Kuster-Hauser syndrome: a review. ( 26586965 )
2015
23
Creation of a Neovagina in a Patient with Mayer-Rokitansky-KA1ster-Hauser (MRKH) Syndrome and Previously Corrected Rectovestibular Fistula Concomitant with Imperforate Anus. ( 25444054 )
2015
24
Colovaginoplasty in a case of mayer-rokitansky-kuster-hauser syndrome. ( 24834388 )
2014
25
Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. ( 24948340 )
2014
26
And god created woman? The link between female sexuality and the mother-daughter relationship in Mayer-Rokitansky-Kuster-Hauser syndrome in adolescents. ( 24552429 )
2014
27
Importance of Laparoscopic Assessment of the Uterine Adnexa in a Mayer-Rokitansky-Kuster-Hauser Syndrome Type II Case. ( 25729598 )
2014
28
Mayer-rokitansky-kuster-hauser syndrome associated with severe inferior vena cava stenosis. ( 25136466 )
2014
29
Characterization of human vaginal mucosa cells for autologous in vitro cultured vaginal tissue transplantation in patients with MRKH syndrome. ( 25162002 )
2014
30
An unusual cause of duodenal obstruction: mesenteric fibromatosis in a patient with type I Mayer-Rokitansky-Kuster-Hauser syndrome. ( 24918139 )
2014
31
MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 23271504 )
2013
32
Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case. ( 23901207 )
2013
33
Large leiomyoma in a woman with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 23705045 )
2013
34
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature. ( 24251185 )
2013
35
Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature. ( 23869310 )
2013
36
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. ( 23167253 )
2013
37
Uterine adenomyosis which developed from hypoplastic uterus in postmenopausal woman with mayer-rokitansky-kuster-hauser syndrome: a case report. ( 25371879 )
2013
38
Laparoscopic Davydov correction of a failed gracilis flap neovagina in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome with a pelvic kidney. ( 23465266 )
2013
39
Mayer-Rokitansky-Kuster-Hauser syndrome: diagnosis with MR imaging. ( 23942608 )
2013
40
Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. ( 23431465 )
2013
41
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. ( 22740494 )
2012
42
Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 22052385 )
2012
43
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. ( 22377151 )
2012
44
Role of estrogen receptor alpha on vaginal epithelialization of patients with Mayer-Rokitansky-Kuster-Hauser syndrome submitted to neovaginoplasty using oxidized regenerated cellulose. ( 22249275 )
2012
45
Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging. Role of imaging to identify and evaluate the uncommon variation in development of the female genital tract. ( 22690292 )
2012
46
In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype. ( 21144508 )
2011
47
Impact of human papillomavirus infection on the neovaginal and vulval tissues of women who underwent surgical treatment for Mayer-Rokitansky-Kuster-Hauser syndrome. ( 21820652 )
2011
48
Laparoscopic evaluation of pelvic pain with Surgicel vaginoplasty in a woman with Mayer Rokitansky Kuster Hauser syndrome. ( 20728979 )
2011
49
Presurgical management of dysmenorrhea and endometriosis in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 21718988 )
2011
50
Diagnosis of a variant of Mayer-Rokitansky-Kuster-Hauser syndrome: useful MRI findings. ( 21717137 )
2011
Sources

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Copy number variations for Mayer-Rokitansky-Kuster-Hauser Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 109760 17 28800000 35400000 Microdeletion LHX1 Mayer-Rokitansky-Kuster-Hauser syndrome
2 109761 17 28800000 35400000 Microdeletion TCF2 Mayer-Rokitansky-Kuster-Hauser syndrome
Sources

Expression for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Search GEO for disease gene expression data for Mayer-Rokitansky-Kuster-Hauser Syndrome.
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Pathways for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 37
Show member pathways
 12.78 DLG1 LAMC1 WNT4 WNT5A WNT7A WNT9B
2
Pathways in cancer 37
12.68 LAMC1 WNT4 WNT5A WNT7A WNT9B
3
Gastric cancer 37
Show member pathways
 12.58 WNT4 WNT5A WNT7A WNT9B
4
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.4 WNT4 WNT5A WNT7A WNT9B
5
Mesodermal Commitment Pathway 1
Show member pathways
 12.36 HNF1B LAMC1 LHX1 TBX3
6
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.33 WNT4 WNT5A WNT7A WNT9B
7
HTLV-I infection 37
12.21 DLG1 WNT4 WNT5A WNT7A WNT9B
8
Presynaptic function of Kainate receptors 66
Show member pathways
 12.17 DLG1 WNT4 WNT5A WNT7A WNT9B
9
Proteoglycans in cancer 37
12.14 WNT4 WNT5A WNT7A WNT9B
10
Colorectal Cancer Metastasis 64
12.04 WNT4 WNT5A WNT7A WNT9B
11
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 65
Show member pathways
 11.99 WNT4 WNT5A WNT7A WNT9B
12
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 11.96 WNT4 WNT5A WNT7A WNT9B
13
Presenilin-Mediated Signaling 64
11.91 WNT4 WNT5A WNT7A WNT9B
14
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 11.88 HNF1B TBX5 WNT4 WNT5A WNT7A WNT9B
15
Hippo signaling pathway 37
11.84 DLG1 WNT4 WNT5A WNT7A WNT9B
16
DNA Damage Response (only ATM dependent) 1
11.83 WNT4 WNT5A WNT7A
17
Cell cycle Cell cycle (generic schema) 22
Show member pathways
 11.76 HNF1B WNT4 WNT5A WNT7A WNT9B
18
Signaling pathways regulating pluripotency of stem cells 37
11.7 TBX3 WNT4 WNT5A WNT7A WNT9B
19
Non-Canonical Wnt Pathway 67
11.5 WNT4 WNT5A WNT7A
20
WNT ligand biogenesis and trafficking 66
Show member pathways
 11.36 WNT4 WNT5A WNT7A WNT9B
21
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.22 HNF1B PAX2 TBX5 TP63 WNT5A WT1
22
Wnt signaling network 1
11.05 WNT5A WNT7A
23
Negative regulation of TCF-dependent signaling by WNT ligand antagonists 66
Show member pathways
 10.92 WNT4 WNT5A
Sources

GO Terms for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Cellular components related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi lumen GO:0005796 9.33 WNT4 WNT5A WNT7A
2 endoplasmic reticulum lumen GO:0005788 9.26 LAMC1 WNT4 WNT5A WNT7A
3 endocytic vesicle membrane GO:0030666 8.8 WNT4 WNT5A WNT7A

Biological processes related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.98 LHX1 PAX2 TBX3 TP63 WNT4 WNT5A
2 multicellular organism development GO:0007275 9.96 LHX1 PAX2 SHOX TBX3 TBX5 TP63
3 skeletal system development GO:0001501 9.93 SHOX TBX3 TP63
4 neuron differentiation GO:0030182 9.93 WNT4 WNT5A WNT7A WNT9B
5 positive regulation of canonical Wnt signaling pathway GO:0090263 9.92 WNT4 WNT5A WNT7A
6 animal organ morphogenesis GO:0009887 9.92 LHX1 TBX3 TP63
7 axonogenesis GO:0007409 9.91 PAX2 WNT5A WNT7A
8 male gonad development GO:0008584 9.91 WNT4 WNT5A WT1
9 anterior/posterior pattern specification GO:0009952 9.91 HNF1B LHX1 WNT5A
10 cellular response to retinoic acid GO:0071300 9.88 PAX2 WNT5A WNT9B
11 canonical Wnt signaling pathway GO:0060070 9.88 WNT4 WNT5A WNT7A WNT9B
12 positive regulation of epithelial cell proliferation GO:0050679 9.87 LAMC1 PAX2 WNT5A
13 embryonic digit morphogenesis GO:0042733 9.87 TBX3 WNT5A WNT7A
14 cellular response to transforming growth factor beta stimulus GO:0071560 9.86 WNT4 WNT5A WNT7A
15 pattern specification process GO:0007389 9.86 LHX1 TBX5 TP63
16 roof of mouth development GO:0060021 9.86 TBX3 WNT5A WNT7A WNT9B
17 cell fate commitment GO:0045165 9.85 WNT4 WNT5A WNT7A WNT9B
18 ureteric bud development GO:0001657 9.83 DLG1 LHX1 WT1
19 branching morphogenesis of an epithelial tube GO:0048754 9.8 HNF1B WNT4 WNT9B
20 embryonic hindlimb morphogenesis GO:0035116 9.8 TBX3 TP63 WNT7A
21 embryonic limb morphogenesis GO:0030326 9.8 TBX5 TP63 WNT5A WNT7A
22 non-canonical Wnt signaling pathway GO:0035567 9.77 WNT4 WNT5A WNT7A
23 kidney development GO:0001822 9.77 HNF1B LHX1 WNT4 WNT9B WT1
24 endoderm development GO:0007492 9.76 HNF1B LAMC1
25 cell aging GO:0007569 9.76 TBX3 TP63
26 cardiac muscle cell differentiation GO:0055007 9.76 TBX3 TBX5
27 sex differentiation GO:0007548 9.76 WNT4 WNT7A
28 positive regulation of mesenchymal cell proliferation GO:0002053 9.76 TP63 WNT5A
29 cochlea morphogenesis GO:0090103 9.75 PAX2 WNT5A
30 limb morphogenesis GO:0035108 9.75 TBX3 WNT5A
31 anatomical structure formation involved in morphogenesis GO:0048646 9.75 LHX1 TP63
32 negative regulation of fibroblast growth factor receptor signaling pathway GO:0040037 9.75 WNT4 WNT5A
33 male genitalia development GO:0030539 9.75 TBX3 WNT9B WT1
34 adrenal gland development GO:0030325 9.74 WNT4 WT1
35 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.74 LHX1 PAX2
36 morphogenesis of an epithelium GO:0002009 9.74 TBX5 WNT5A
37 post-anal tail morphogenesis GO:0036342 9.74 TP63 WNT5A
38 uterus development GO:0060065 9.74 LHX1 WNT5A WNT7A
39 urogenital system development GO:0001655 9.73 LHX1 PAX2
40 establishment of planar polarity GO:0001736 9.73 TP63 WNT5A
41 secondary palate development GO:0062009 9.73 WNT5A WNT7A
42 smooth muscle tissue development GO:0048745 9.72 DLG1 TP63
43 forelimb morphogenesis GO:0035136 9.72 TBX3 TBX5
44 primitive streak formation GO:0090009 9.72 LHX1 WNT5A
45 vagina development GO:0060068 9.72 LHX1 WNT5A
46 presynapse assembly GO:0099054 9.71 WNT5A WNT7A
47 epithelium development GO:0060429 9.71 HNF1B LHX1
48 midbrain dopaminergic neuron differentiation GO:1904948 9.71 WNT5A WNT9B
49 metanephric mesenchyme development GO:0072075 9.71 PAX2 WT1
50 mesonephros development GO:0001823 9.71 LHX1 PAX2 WNT4

Molecular functions related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.97 HNF1B LHX1 PAX2 SHOX TBX3 TBX5
2 DNA binding transcription factor activity GO:0003700 9.86 HNF1B LHX1 SHOX TBX3 TBX5 TP63
3 signaling receptor binding GO:0005102 9.73 WNT4 WNT5A WNT7A WNT9B
4 transcription regulatory region DNA binding GO:0044212 9.72 HNF1B PAX2 TP63 WNT5A WT1
5 sequence-specific DNA binding GO:0043565 9.7 HNF1B LHX1 SHOX TBX3 TBX5 TP63
6 proximal promoter sequence-specific DNA binding GO:0000987 9.46 HNF1B PAX2
7 frizzled binding GO:0005109 9.26 WNT4 WNT5A WNT7A WNT9B
8 receptor ligand activity GO:0048018 8.92 WNT4 WNT5A WNT7A WNT9B
9 DNA binding GO:0003677 10.01 HNF1B LHX1 PAX2 SHOX TBX3 TBX5
Sources

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
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50 NCIt
51 NDF-RT
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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