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 51 24 69
Mrkh Syndrome 24 25 53 69
Mayer-Rokitansky-Küster-Hauser Syndrome 25 53
Congenital Absence of Uterus and Vagina 24 53
Rokitansky-Kuster-Hauser Syndrome 69 26
Rokitansky Syndrome 25 53
Mrkh Anomaly 24 69
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 24
Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 53
Congenital Absence of the Uterus and Vagina 25
Von Mayer-Rokitansky-Kuster Anomaly 24
 
Rokitansky Kuster Hauser Syndrome 67
Genital Renal Ear Syndrome 25
Mrkh Syndrome Type 1 53
Mullerian Dysgenesis 25
Rokitansky Sequence 53
Mullerian Agenesis 25
Mullerian Aplasia 25
Rkh Syndrome 69
Mrk Anomaly 24
Cauv 24

Characteristics:

Orphanet epidemiological data:

53
mrkh syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy
congenital absence of uterus and vagina:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy

HPO:

63
mayer-rokitansky-kuster-hauser syndrome:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 277000
ICD10 via Orphanet30 Q51.8
MedGen36 C1698581

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

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OMIM:51 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 hypoplastic thumb mullerian aplasia, 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 LHX1 (LIM Homeobox 1), 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 kidney, and related mouse phenotypes are limbs/digits/tail and muscle.

UniProtKB/Swiss-Prot:69 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:25 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 46)
idRelated DiseaseScoreTop Affiliating Genes
1mullerian aplasia and hyperandrogenism12.3
2hypoplastic thumb mullerian aplasia12.2
3rokitansky sequence12.1
4mullerian aplasia11.5
5mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies10.9
6leiomyoma10.7
7vaginitis10.7
8gonadal dysgenesis10.6
9endometriosis10.6
10adenomyosis10.5
11polydactyly, preaxial type ii10.3TBX3, TBX5
12hyperprolactinemia10.3
13silver-russell syndrome10.3
14androgen insensitivity10.3
15total anomalous pulmonary venous return10.3
16pelviureteric junction obstruction10.3
17vaginal cancer10.3
18esophagitis10.3
19von willebrand's disease10.3
20urethritis10.3
21amenorrhea10.3
22endodermal sinus tumor10.3
23teratoma10.3
24duodenal obstruction10.3
25peritonitis10.3
26duodenitis10.3
27complete androgen insensitivity syndrome10.3
28fibromatosis10.3
29murcs association10.3
30holt-oram syndrome10.3TBX3, TBX5
31acta1-related nemaline myopathy10.2PAX2, TBX5
32ovarian stromal hyperthecosis10.2PAX2, TP63
33renal tubular dysgenesis, agt-related10.1PAX2, WNT4
34joubert syndrome 1310.1TBX3, TBX5
35endometriosis of pelvic peritoneum10.0WNT7A, WT1
36knobloch syndrome9.9TBX3, TBX5, TP63, WNT4
37thrombocytopenia-absent radius syndrome9.9
38thrombocytopenia9.9
39liver sarcoma9.8PAX2, WT1
40hilar cholangiocellular carcinoma9.7PAX2, TP63
41ulnar hemimelia9.7PAX2, WT1
42sclerosing hemangioma9.6PAX2, WT1
43nephrotic syndrome, type 49.6PAX2, WT1
44mucinous adenofibroma9.5PAX2, WT1
45unna-thost palmoplantar keratoderma9.4LAMC1, PAX2, WT1
46keratosis follicularis, dwarfism, and cerebral atrophy6.0DLG1, 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

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

 63 53 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of female internal genitalia63 hallmark (90%) HP:0000008
2 abnormal form of the vertebral bodies63 53 occasional (7.5%) Occasional (29-5%) HP:0003312
3 abnormality of the sacrum63 53 occasional (7.5%) Occasional (29-5%) HP:0005107
4 renal hypoplasia/aplasia63 occasional (7.5%) HP:0008678
5 abnormal localization of kidney63 occasional (7.5%) HP:0100542
6 hypoplasia of the uterus63 HP:0000013
7 amenorrhea63 HP:0000141
8 aplasia of the vagina63 HP:0003250
9 abnormality of the kidney53 Frequent (79-30%)
10 horseshoe kidney53 Occasional (29-5%)
11 ectopic kidney53 Occasional (29-5%)
12 unilateral renal agenesis53 Occasional (29-5%)
13 aplasia of the uterus53 Very frequent (99-80%)
14 vertebral fusion53 Occasional (29-5%)
15 vertebral segmentation defect53 Occasional (29-5%)
16 hypoplasia of the vagina53 Very frequent (99-80%)

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 SituationsCompletedNCT01826500
2Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser SyndromeRecruitingNCT02967822

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 Syndrome26
2 Mayer-Rokitansky-Kuster-Hauser Syndrome24

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

35
Uterus, Ovary, 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:

40 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8DLG1, TBX3, TBX5, TP63, WNT4, WNT5A
2MP:00053698.4DLG1, LAMC1, TBX3, TBX5, TP63, WT1
3MP:00028737.9LAMC1, LHX1, TBX3, TBX5, TP63, WNT4
4MP:00053857.7LAMC1, LHX1, PAX2, TBX3, TBX5, TP63
5MP:00053677.3DLG1, LAMC1, LHX1, PAX2, TP63, WNT4
6MP:00053767.3DLG1, GALT, LAMC1, LHX1, TBX3, TBX5
7MP:00053787.3DLG1, LAMC1, LHX1, TBX3, TBX5, TP63
8MP:00053797.2DLG1, LAMC1, LHX1, PAX2, TBX3, TP63
9MP:00053806.5DLG1, LAMC1, LHX1, PAX2, TBX3, TBX5
10MP:00107686.5DLG1, LAMC1, LHX1, PAX2, TBX3, TBX5
11MP:00053896.0DLG1, LAMC1, LHX1, PAX2, TBX3, TP63

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

(show top 50)    (show all 103)
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
Rare Case of Leiomyoma and Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome. (27843659)
2016
4
A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis. (27190929)
2016
5
Laparoscopic Davydov Procedure for the Creation of a Neovagina in Patients with Mayer-Rokitansky-Kuster-Hauser Syndrome: Analysis of 7 Cases. (27344998)
2016
6
Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence. (26454229)
2015
7
Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas. (25468053)
2015
8
Mayer-Rokitansky-Kuster-Hauser syndrome: a review. (26586965)
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 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8WNT4, WNT5A
29.8WNT5A, WNT7A
39.3WNT4, WNT5A, WNT7A, WNT9B
49.3WNT4, WNT5A, WNT7A, WNT9B
59.3WNT4, WNT5A, WNT7A, WNT9B
6
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
79.3WNT4, WNT5A, WNT7A, WNT9B
8
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
99.0TBX3, WNT4, WNT5A, WNT7A, WNT9B
10
Show member pathways
9.0TBX5, WNT4, WNT5A, WNT7A, WNT9B
118.8LAMC1, WNT4, WNT5A, WNT7A, WNT9B
128.7DLG1, WNT4, WNT5A, WNT7A, WNT9B
13
Show member pathways
8.7DLG1, WNT4, WNT5A, WNT7A, WNT9B
148.7DLG1, WNT4, WNT5A, WNT7A, WNT9B
158.1PAX2, TBX5, TP63, WNT5A, WT1

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:00306669.3WNT4, 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 all 50)
idNameGO IDScoreTop Affiliating Genes
1paramesonephric duct developmentGO:006120510.7LHX1, WNT4
2metanephric tubule formationGO:007217410.6WNT4, WNT9B
3kidney morphogenesisGO:006099310.6WNT4, WNT9B
4uterus morphogenesisGO:006103810.6WNT7A, WNT9B
5cervix developmentGO:006006710.6LHX1, WNT5A
6primitive streak formationGO:009000910.6LHX1, WNT5A
7negative regulation of fibroblast growth factor receptor signaling pathwayGO:004003710.6WNT4, WNT5A
8excitatory synapse assemblyGO:190486110.5WNT5A, WNT7A
9vagina developmentGO:006006810.5LHX1, WNT5A
10prostate gland developmentGO:003085010.5TP63, WNT5A
11urinary bladder developmentGO:006015710.5TP63, WNT5A
12forelimb morphogenesisGO:003513610.5TBX3, TBX5
13oviduct developmentGO:006006610.5LHX1, WNT7A
14anterior/posterior axis specification, embryoGO:000859510.5TBX3, WNT5A
15positive regulation of protein localization to synapseGO:190247410.4WNT5A, WNT7A
16metanephric mesenchymal cell differentiationGO:007216210.4PAX2, WNT4
17positive regulation of meiotic nuclear divisionGO:004583610.4WNT4, WNT5A
18mesonephric tubule developmentGO:007216410.4LHX1, WNT4, WNT9B
19pronephros developmentGO:004879310.3LHX1, PAX2
20non-canonical Wnt signaling pathwayGO:003556710.3WNT4, WNT5A, WNT7A
21cellular response to transforming growth factor beta stimulusGO:007156010.2WNT4, WNT5A, WNT7A
22uterus developmentGO:006006510.1LHX1, WNT5A, WNT7A
23mesonephros developmentGO:000182310.1LHX1, PAX2, WNT4
24metanephric S-shaped body morphogenesisGO:007228410.1LHX1, WT1
25embryonic forelimb morphogenesisGO:003511510.1TBX3, TBX5, WNT7A
26pattern specification processGO:000738910.1LHX1, TBX5, TP63
27embryonic digit morphogenesisGO:004273310.0TBX3, WNT5A, WNT7A
28cardiac muscle cell fate commitmentGO:006092310.0TBX3, WT1
29smooth muscle tissue developmentGO:004874510.0DLG1, TP63
30cell fate commitmentGO:00451659.9WNT4, WNT5A, WNT7A, WNT9B
31cellular response to retinoic acidGO:00713009.9PAX2, WNT5A, WNT9B
32metanephric epithelium developmentGO:00722079.8PAX2, WT1
33metanephric mesenchyme developmentGO:00720759.8PAX2, WT1
34canonical Wnt signaling pathwayGO:00600709.8WNT4, WNT5A, WNT7A, WNT9B
35palate developmentGO:00600219.6TBX3, WNT5A, WNT7A, WNT9B
36embryonic limb morphogenesisGO:00303269.6TBX5, TP63, WNT5A, WNT7A
37male genitalia developmentGO:00305399.5TBX3, WNT9B, WT1
38positive regulation of epithelial cell proliferationGO:00506799.5LAMC1, PAX2, WNT5A
39mesenchymal to epithelial transitionGO:00602319.5PAX2, WNT4, WT1
40male gonad developmentGO:00085849.4WNT4, WNT5A, WT1
41kidney developmentGO:00018229.4LHX1, WNT4, WNT9B, WT1
42Wnt signaling pathwayGO:00160559.3WNT4, WNT5A, WNT7A, WNT9B
43ureteric bud developmentGO:00016579.2DLG1, LHX1, WT1
44transcription from RNA polymerase II promoterGO:00063668.5LHX1, PAX2, SHOX, TP63, WT1
45branching involved in ureteric bud morphogenesisGO:00016588.2DLG1, LHX1, PAX2, WNT4, WNT9B, WT1
46negative regulation of apoptotic processGO:00430668.1PAX2, TBX3, TP63, WNT5A, WNT7A, WT1
47positive regulation of cell proliferationGO:00082848.1DLG1, PAX2, TBX3, WNT5A, WNT7A
48positive regulation of transcription from RNA polymerase II promoterGO:00459447.8PAX2, TBX5, TP63, WNT5A, WNT7A, WT1
49negative regulation of transcription, DNA-templatedGO:00458927.7LHX1, PAX2, TBX3, TP63, WNT4, WNT5A
50positive regulation of transcription, DNA-templatedGO:00458937.3LHX1, 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:00442128.5PAX2, TP63, WNT5A, WT1
4sequence-specific DNA bindingGO:00435658.0LHX1, SHOX, TBX3, TBX5, TP63, WT1
5transcription factor activity, sequence-specific DNA bindingGO:00037007.4LHX1, SHOX, TBX3, TBX5, TP63, WNT5A

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet