MCID: MYR002
MIFTS: 55

Mayer-Rokitansky-Kuster-Hauser Syndrome malady

Categories: Genetic diseases, Nephrological diseases, Reproductive diseases, Fetal diseases, Rare diseases, Ear diseases

Aliases & Classifications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Aliases & Descriptions for Mayer-Rokitansky-Kuster-Hauser Syndrome:

Name: Mayer-Rokitansky-Kuster-Hauser Syndrome 50 23 68
Mrkh Syndrome 23 24 52 68
Mayer-Rokitansky-Küster-Hauser Syndrome 24 52
Congenital Absence of Uterus and Vagina 23 52
Rokitansky-Kuster-Hauser Syndrome 68 25
Rokitansky Syndrome 24 52
Mrkh Anomaly 23 68
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 23
Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 52
Congenital Absence of the Uterus and Vagina 24
Von Mayer-Rokitansky-Kuster Anomaly 23
 
Rokitansky Kuster Hauser Syndrome 66
Genital Renal Ear Syndrome 24
Mrkh Syndrome Type 1 52
Mullerian Dysgenesis 24
Rokitansky Sequence 52
Mullerian Agenesis 24
Mullerian Aplasia 24
Rkh Syndrome 68
Mrk Anomaly 23
Cauv 23

Characteristics:

Orphanet epidemiological data:

52
congenital absence of uterus and vagina:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy
mrkh syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy

HPO:

62
mayer-rokitansky-kuster-hauser syndrome:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 277000
ICD10 via Orphanet29 Q51.8
MedGen35 C1698581

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

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OMIM:50 Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically... (277000) more...

MalaCards based summary: Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to mullerian aplasia and hyperandrogenism and rokitansky sequence, and has symptoms including abnormality of female internal genitalia, abnormal form of the vertebral bodies and abnormality of the sacrum. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is WNT4 (Wnt Family Member 4), and among its related pathways are Negative regulation of TCF-dependent signaling by WNT ligand antagonists and Wnt signaling network. Affiliated tissues include uterus, ovary and breast, and related mouse phenotypes are muscle and limbs/digits/tail.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.

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 49)
idRelated DiseaseScoreTop Affiliating Genes
1mullerian aplasia and hyperandrogenism12.3
2rokitansky sequence12.3
3hypoplastic thumb mullerian aplasia12.2
4mullerian aplasia11.6
5mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies11.1
6vaginitis10.8
7leiomyoma10.8
8gonadal dysgenesis10.8
9endometriosis10.7
10hyperprolactinemia10.5
11silver-russell syndrome10.5
12androgen insensitivity10.5
13total anomalous pulmonary venous return10.5
14pelviureteric junction obstruction10.5
15vaginal cancer10.5
16esophagitis10.5
17urethritis10.5
18amenorrhea10.5
19vacterl association10.5
20endodermal sinus tumor10.5
21teratoma10.5
22duodenal obstruction10.5
23kidney disease10.5
24situs inversus10.5
25peritonitis10.5
26duodenitis10.5
27neurofibromatosis10.5
28adenomyosis10.5
29complete androgen insensitivity syndrome10.5
30fibromatosis10.5
31murcs association10.5
32polydactyly, preaxial type ii10.3TBX3, TBX5
33holt-oram syndrome10.3TBX3, TBX5
34endometriosis of pelvic peritoneum10.3WNT7A, WT1
35joubert syndrome 1310.1TBX3, TBX5
36thrombocytopenia-absent radius syndrome10.0
37thrombocytopenia10.0
38acta1-related nemaline myopathy10.0PAX2, TBX5
39ovarian stromal hyperthecosis9.9PAX2, TP63
40renal tubular dysgenesis, agt-related9.9PAX2, WNT4
41knobloch syndrome9.9TBX3, TBX5, TP63, WNT4
42liver sarcoma9.8PAX2, WT1
43ulnar hemimelia9.7PAX2, WT1
44sclerosing hemangioma9.6PAX2, WT1
45nephrotic syndrome, type 49.5PAX2, WT1
46hilar cholangiocellular carcinoma9.5PAX2, TP63
47mucinous adenofibroma9.4PAX2, WT1
48unna-thost palmoplantar keratoderma9.3LAMC1, PAX2, WT1
49keratosis follicularis, dwarfism, and cerebral atrophy5.5DLG1, GALT, LAMC1, LHX1, PAX2, SHOX

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



Diseases related to mayer-rokitansky-kuster-hauser syndrome

Symptoms for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Symptoms by clinical synopsis from OMIM:

277000

Clinical features from OMIM:

277000

Symptoms:

 52 (show all 10)
  • abnormality of the kidney
  • horseshoe kidney
  • ectopic kidney
  • unilateral renal agenesis
  • aplasia of the uterus
  • vertebral fusion
  • abnormal form of the vertebral bodies
  • vertebral segmentation defect
  • abnormality of the sacrum
  • hypoplasia of the vagina

HPO human phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

(show all 8)
id Description Frequency HPO Source Accession
1 abnormality of female internal genitalia hallmark (90%) HP:0000008
2 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
3 abnormality of the sacrum occasional (7.5%) HP:0005107
4 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
5 abnormal localization of kidney occasional (7.5%) HP:0100542
6 hypoplasia of the uterus HP:0000013
7 amenorrhea HP:0000141
8 aplasia of the vagina HP:0003250

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1VARITI-5 : Study of Variations of Serum ITIH5 in Women During the Genital Life and in Pathological SituationsRecruitingNCT01826500

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

Genetic Tests for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

id Genetic test Affiliating Genes
1 Rokitansky Kuster Hauser Syndrome25
2 Mayer-Rokitansky-Kuster-Hauser Syndrome23

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

34
Uterus, Ovary, Breast, Kidney, Cervix, Lung, Colon

Animal Models for Mayer-Rokitansky-Kuster-Hauser Syndrome or affiliated genes

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

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3DLG1, LAMC1, TBX3, TBX5, TP63, WT1
2MP:00053718.2DLG1, TBX3, TBX5, TP63, WNT4, WNT5A
3MP:00028737.5LAMC1, LHX1, TBX3, TBX5, TP63, WNT4
4MP:00053856.9LAMC1, LHX1, PAX2, TBX3, TBX5, TP63
5MP:00053676.9DLG1, LAMC1, LHX1, PAX2, TP63, WNT4
6MP:00053786.8DLG1, LAMC1, LHX1, TBX3, TBX5, TP63
7MP:00053796.5DLG1, LAMC1, LHX1, PAX2, TBX3, TP63
8MP:00053896.5DLG1, LAMC1, LHX1, PAX2, TBX3, TP63
9MP:00053766.5DLG1, GALT, LAMC1, LHX1, TBX3, TBX5
10MP:00053806.1DLG1, LAMC1, LHX1, PAX2, TBX3, TBX5
11MP:00107686.0DLG1, LAMC1, LHX1, PAX2, TBX3, TBX5

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

(show top 50)    (show all 102)
idTitleAuthorsYear
1
An unusual cause of urinary incontinence: Urethral coitus in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. (27617320)
2016
2
Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome. (27241658)
2016
3
A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis. (27190929)
2016
4
Laparoscopic Davydov Procedure for the Creation of a Neovagina in Patients with Mayer-Rokitansky-Kuster-Hauser Syndrome: Analysis of 7 Cases. (27344998)
2016
5
Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence. (26454229)
2015
6
Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas. (25468053)
2015
7
Mayer-Rokitansky-Kuster-Hauser syndrome: a review. (26586965)
2015
8
A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas in hypoplastic uterus. (26752861)
2015
9
And god created woman? The link between female sexuality and the mother-daughter relationship in Mayer-Rokitansky-Kuster-Hauser syndrome in adolescents. (24552429)
2014
10
An unusual cause of duodenal obstruction: mesenteric fibromatosis in a patient with type I Mayer-Rokitansky-Kuster-Hauser syndrome. (24918139)
2014
11
Mayer-rokitansky-kuster-hauser syndrome associated with severe inferior vena cava stenosis. (25136466)
2014
12
Uterine adenomyosis which developed from hypoplastic uterus in postmenopausal woman with mayer-rokitansky-kuster-hauser syndrome: a case report. (25371879)
2013
13
Mayer-Rokitansky-Kuster-Hauser syndrome: diagnosis with MR imaging. (23942608)
2013
14
Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. (23431465)
2013
15
MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. (23271504)
2013
16
Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. (22052385)
2012
17
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. (22377151)
2012
18
Diagnosis of a variant of Mayer-Rokitansky-Kuster-Hauser syndrome: useful MRI findings. (21717137)
2011
19
In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype. (21144508)
2011
20
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
21
Creation of a neovagina after Creatsas modification of Williams vaginoplasty for the treatment of 200 patients with Mayer-Rokitansky-Kuster-Hauser syndrome. (19939365)
2010
22
Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings. (19165657)
2009
23
Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula. (19635284)
2009
24
Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome. (19171330)
2009
25
Two cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with situs inversus totalis: coincidence or co-existence? (19493518)
2009
26
Magnetic resonance imaging diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. (19562052)
2008
27
Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type I. (18092845)
2008
28
Total anomalous pulmonary venous return and Mayer-Rokitansky-Kuster-Hauser syndrome. (17689726)
2008
29
An incidental coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome with pelvic ectopic kidney and perirenal endometrioma. (18813424)
2008
30
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. (17449508)
2007
31
Mayer-Rokitansky-Kuster-Hauser syndrome presenting as premature thelarche in a young child. (17587284)
2007
32
Laparoscopically assisted sigmoid colon vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser syndrome: feasibility and short-term results. (17903225)
2007
33
Fourth case of uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant of Mayer-Rokitansky-Kuster-Hauser syndrome. (17718797)
2007
34
Mayer Rokitansky Kuster Hauser syndrome with urogenital sinus anomaly. (17204225)
2007
35
Management of an unusual case of atypical Mayer-Rokitansky-Kuster-Hauser syndrome, with unilateral gonadal agenesis, solitary ectopic pelvic kidney, and pelviureteric junction obstruction. (17093891)
2007
36
Total endoscopic vaginal reconstruction in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. (16108754)
2005
37
Use of artificial dermis and recombinant basic fibroblast growth factor for creating a neovagina in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. (15155602)
2004
38
Sexuality after sigmoid colpopoiesis in patients with Mayer-Rokitansky-Kuster-Hauser Syndrome. (12969705)
2003
39
Primary invasive vaginal cancer in the setting of the Mayer-Rokitansky-Kuster-Hauser syndrome. (11972406)
2002
40
Laparoscopic creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome by modification of Vecchietti's procedure. (11509785)
2001
41
Prolapse of the neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome. A case report. (10394550)
1999
42
Laparoscopy for pelvic pain in the Mayer-Rokitansky-Kuster-Hauser syndrome. A case report. (9564646)
1998
43
Simplifying ovulation induction for surrogacy in women with Mayer-Rokitansky-Kuster-Hauser syndrome. (9688373)
1998
44
The MA!laga flap for vaginoplasty in the Mayer-Rokitansky-Kuster-Hauser syndrome: experience and early-term results. (9283584)
1997
45
Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging in a 15-year-old girl. (9179809)
1997
46
Laparoscopic-ultrasonographic combined technique for the creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome. (8941079)
1996
47
A new laparoscopic procedure for creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome. (8893702)
1996
48
Mayer-Rokitansky-Kuster-Hauser syndrome with immature teratoma of the ovary at age 4 years. (7705686)
1995
49
Mayer-Rokitansky-Kuster-Hauser syndrome: US aid to diagnosis. (3538139)
1986
50
Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome. (782313)
1976

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1109760172880000035400000MicrodeletionLHX1Mayer-Rokitansky-Kuster-Hauser syndrome
2109761172880000035400000MicrodeletionTCF2Mayer-Rokitansky-Kuster-Hauser syndrome

Expression for genes affiliated with Mayer-Rokitansky-Kuster-Hauser Syndrome

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

Pathways for genes affiliated with 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 19)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9WNT4, WNT5A
29.9WNT5A, WNT7A
3
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
4
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
59.3WNT4, WNT5A, WNT7A, WNT9B
6
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
79.3WNT4, WNT5A, WNT7A, WNT9B
89.3WNT4, WNT5A, WNT7A, WNT9B
9
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
10
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
119.3WNT4, WNT5A, WNT7A, WNT9B
12
Show member pathways
9.0TBX5, WNT4, WNT5A, WNT7A, WNT9B
139.0TBX3, WNT4, WNT5A, WNT7A, WNT9B
148.9DLG1, WNT4, WNT5A, WNT7A, WNT9B
158.9DLG1, WNT4, WNT5A, WNT7A, WNT9B
16
Show member pathways
8.9DLG1, WNT4, WNT5A, WNT7A, WNT9B
178.8LAMC1, WNT4, WNT5A, WNT7A, WNT9B
188.2PAX2, TBX5, TP63, WNT5A, WT1
19
Show member pathways
8.1DLG1, PAX2, WNT4, WNT5A, WNT7A, WNT9B

GO Terms for genes affiliated with Mayer-Rokitansky-Kuster-Hauser Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00057969.7WNT4, WNT5A, WNT7A
2endocytic vesicle membraneGO:00306669.5WNT4, WNT5A, WNT7A
3proteinaceous extracellular matrixGO:00055788.8LAMC1, WNT4, WNT5A, WNT7A, WNT9B

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

(show top 50)    (show all 70)
idNameGO IDScoreTop Affiliating Genes
1paramesonephric duct developmentGO:006120510.7LHX1, WNT4
2metanephric tubule formationGO:007217410.7WNT4, WNT9B
3kidney morphogenesisGO:006099310.7WNT4, WNT9B
4uterus morphogenesisGO:006103810.6WNT7A, WNT9B
5negative regulation of fibroblast growth factor receptor signaling pathwayGO:004003710.6WNT4, WNT5A
6cervix developmentGO:006006710.6LHX1, WNT5A
7primitive streak formationGO:009000910.6LHX1, WNT5A
8vagina developmentGO:006006810.6LHX1, WNT5A
9prostate gland developmentGO:003085010.6TP63, WNT5A
10urinary bladder developmentGO:006015710.6TP63, WNT5A
11excitatory synapse assemblyGO:190486110.6WNT5A, WNT7A
12anterior/posterior axis specification, embryoGO:000859510.5TBX3, WNT5A
13positive regulation of protein localization to synapseGO:190247410.5WNT5A, WNT7A
14oviduct developmentGO:006006610.5LHX1, WNT7A
15forelimb morphogenesisGO:003513610.5TBX3, TBX5
16positive regulation of meiotic nuclear divisionGO:004583610.4WNT4, WNT5A
17mesonephric tubule developmentGO:007216410.4LHX1, WNT4, WNT9B
18metanephric S-shaped body morphogenesisGO:007228410.4LHX1, WT1
19non-canonical Wnt signaling pathwayGO:003556710.3WNT4, WNT5A, WNT7A
20cardiac muscle cell fate commitmentGO:006092310.3TBX3, WT1
21uterus developmentGO:006006510.2LHX1, WNT5A, WNT7A
22smooth muscle tissue developmentGO:004874510.2DLG1, TP63
23metanephric mesenchymal cell differentiationGO:007216210.1PAX2, WNT4
24pronephros developmentGO:004879310.0LHX1, PAX2
25embryonic digit morphogenesisGO:004273310.0TBX3, WNT5A, WNT7A
26embryonic forelimb morphogenesisGO:003511510.0TBX3, TBX5, WNT7A
27cellular response to transforming growth factor beta stimulusGO:007156010.0WNT4, WNT5A, WNT7A
28cell fate commitmentGO:004516510.0WNT4, WNT5A, WNT7A, WNT9B
29pattern specification processGO:000738910.0LHX1, TBX5, TP63
30metanephric epithelium developmentGO:00722079.8PAX2, WT1
31mesonephros developmentGO:00018239.8LHX1, PAX2, WNT4
32metanephric mesenchyme developmentGO:00720759.8PAX2, WT1
33male genitalia developmentGO:00305399.8TBX3, WNT9B, WT1
34canonical Wnt signaling pathwayGO:00600709.7WNT4, WNT5A, WNT7A, WNT9B
35ureteric bud developmentGO:00016579.7DLG1, LHX1, WT1
36kidney developmentGO:00018229.7LHX1, WNT4, WNT9B, WT1
37male gonad developmentGO:00085849.6WNT4, WNT5A, WT1
38embryonic limb morphogenesisGO:00303269.5TBX5, TP63, WNT5A, WNT7A
39palate developmentGO:00600219.5TBX3, WNT5A, WNT7A, WNT9B
40cellular response to retinoic acidGO:00713009.5PAX2, WNT5A, WNT9B
41mesenchymal to epithelial transitionGO:00602319.5PAX2, WNT4, WT1
42Wnt signaling pathwayGO:00160559.3WNT4, WNT5A, WNT7A, WNT9B
43positive regulation of epithelial cell proliferationGO:00506799.1LAMC1, PAX2, WNT5A
44transcription from RNA polymerase II promoterGO:00063668.4LHX1, PAX2, SHOX, TP63, WT1
45branching involved in ureteric bud morphogenesisGO:00016588.3DLG1, LHX1, PAX2, WNT4, WNT9B, WT1
46negative regulation of apoptotic processGO:00430667.9PAX2, TBX3, TP63, WNT5A, WNT7A, WT1
47positive regulation of cell proliferationGO:00082847.9DLG1, PAX2, TBX3, WNT5A, WNT7A
48positive regulation of transcription from RNA polymerase II promoterGO:00459447.9PAX2, TBX5, TP63, WNT5A, WNT7A, WT1
49negative regulation of transcription, DNA-templatedGO:00458927.8LHX1, PAX2, TBX3, TP63, WNT4, WNT5A
50positive regulation of transcription, DNA-templatedGO:00458937.4LHX1, PAX2, TBX3, TBX5, TP63, WNT4

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

idNameGO IDScoreTop Affiliating Genes
1receptor agonist activityGO:004801810.0WNT4, WNT5A, WNT7A
2frizzled bindingGO:00051099.8WNT4, WNT5A, WNT7A, WNT9B
3transcription regulatory region DNA bindingGO:00442128.8PAX2, TP63, WNT5A, WT1
4sequence-specific DNA bindingGO:00435658.3LHX1, SHOX, TBX3, TBX5, TP63, WT1
5transcription factor activity, sequence-specific DNA bindingGO:00037007.9LHX1, SHOX, TBX3, TBX5, TP63, WNT5A

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet