MCID: MYR002
MIFTS: 50

Mayer-Rokitansky-Kuster-Hauser Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Reproductive diseases, Fetal diseases, Ear diseases categories

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 45 67
Mrkh Syndrome 45 22 23 51 67
Congenital Absence of the Uterus and Vagina 45 22 23
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 45 22
Mayer-Rokitansky-Küster-Hauser Syndrome 23 51
Mayer Rokitansky Kuster Hauser Syndrome 45 22
Von Mayer Rokitansky Kuster Anomaly 45 22
Genital Renal Ear Syndrome 45 23
Rokitansky Syndrome 23 51
Mrkh Anomaly 45 67
 
Rkh Syndrome 45 67
Mrk Anomaly 45 22
Cauv 45 22
Rokitansky-Kuster-Hauser Syndrome 67
Rokitansky Kuster Hauser Syndrome 65
Mullerian Dysgenesis 23
Mullerian Agenesis 23
Mullerian Aplasia 23
Gres Syndrome 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
mrkh syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy


External Ids:

Orphanet51 3109
ICD10 via Orphanet28 Q51.8
MedGen34 C1698581

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

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NIH Rare Diseases:45 Mayer-rokitansky-küster-hauser (mrkh) syndrome is a disorder that mainly affects the female reproductive system, causing the vagina and uterus to be underdeveloped or absent. external genitalia and breast development is normal, and ovaries are usually present and functional. other features may include kidney and/or skeletal abnormalities, hearing loss, and/or heart defects. there are 2 types of mrkh which are distinguished based on whether additional features are present. in type i, there is only absence of part of the vagina. in type ii, abnormalities of the spine, heart, kidneys, and/or ears are also present. the exact cause of mrkh syndrome is unknown but it is thought to result from a combination of genetic and environmental factors. most cases occur randomly, but some cases run in families. some familial cases appear to be inherited in an autosomal dominant manner. although women with mrkh syndrome usually are unable to carry a pregnancy, they may be able to have children with assisted reproduction. last updated: 4/15/2015

MalaCards based summary: Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to vaginitis and gonadal dysgenesis, 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 (Wingless-Type MMTV Integration Site 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 craniofacial and skeleton.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Diseases in the Mayer-Rokitansky-Kuster-Hauser Syndrome family:

Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 Mayer-Rokitansky-Küster-Hauser Syndrome Type 2

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

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1vaginitis11.0
2gonadal dysgenesis10.9
3leiomyoma10.9
4endometriosis10.8
5mullerian aplasia and hyperandrogenism10.7
6mullerian agenesis10.7
7hyperprolactinemia10.6
8silver-russell syndrome10.6
9androgen insensitivity10.6
10total anomalous pulmonary venous return10.6
11pelviureteric junction obstruction10.6
12vacterl association10.6
13von willebrand's disease10.6
14amenorrhea10.6
15duodenitis10.6
16neurofibromatosis10.6
17situs inversus10.6
18duodenal obstruction10.6
19endodermal sinus tumor10.6
20esophagitis10.6
21kidney disease10.6
22peritonitis10.6
23vaginal cancer10.6
24adenomyosis10.6
25complete androgen insensitivity syndrome10.6
26fibromatosis10.6
27murcs association10.6
28teratoma10.6
29hypoplastic thumb mullerian aplasia10.5
30uterine fibroid10.5
31cystic fibrosis10.4
32mullerian aplasia10.4
33imperforate anus10.3
34michels caskey syndrome10.3
35thrombocytopenia-absent radius syndrome10.3
36thrombocytopenia10.3
37vaginal atresia10.2
38fallopian tube cancer10.1
39mayer-rokitansky-küster-hauser syndrome type 110.1
40mayer-rokitansky-küster-hauser syndrome type 210.1
41ulnar-mammary syndrome10.1TBX3, TBX5
42exstrophy of the bladder-epispadias10.1TP63, WNT9B
43poland syndrome10.1
44inguinal hernia10.1
45cystadenofibroma10.1
46hypothyroidism10.1
47acta1-related congenital fiber-type disproportion10.1PAX2, TBX5
48renal tubular dysgenesis, ace-related10.1PAX2, WNT4
49endometriosis of intestine10.1WNT7A, WT1
50adult syndrome10.1

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:

 51
  • uterine/uterus/fallopian tubes anomalies
  • abnormal vertebral size/shape
  • sacro-coccyx/sacrum anomaly
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys

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

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

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
2Assessment of Quality of Global and Sexual Life and Impact of Surgical and Non Surgical Vaginal Aplasia in Patients With a Rokitansky SyndromeActive, not recruitingNCT01911884
3Uterine Transplantation and Pregnancy Induction in Women Affected by Absolute Uterine InfertilityNot yet recruitingNCT02656550

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 Mayer-Rokitansky-Kuster-Hauser Syndrome22

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

33
Uterus, Ovary, Breast, Kidney, Heart, Cervix, Lung

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:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.3DLG1, LHX1, TBX3, TP63, WNT5A, WNT9B
2MP:00053908.2DLG1, TBX3, TBX5, TP63, WNT5A, WNT7A
3MP:00053717.9DLG1, TBX3, TBX5, TP63, WNT4, WNT5A
4MP:00028737.7LAMC1, LHX1, TBX3, TBX5, TP63, WNT4
5MP:00053697.6DLG1, LAMC1, TBX3, TBX5, TP63, WT1
6MP:00053857.2LAMC1, LHX1, PAX2, TBX3, TBX5, TP63
7MP:00053796.7DLG1, LAMC1, LHX1, PAX2, TBX3, TP63
8MP:00053676.6DLG1, LAMC1, LHX1, PAX2, TP63, WNT4
9MP:00053805.6DLG1, LAMC1, LHX1, PAX2, TBX3, TBX5
10MP:00053895.5DLG1, LAMC1, LHX1, PAX2, TBX3, TP63
11MP:00107685.5DLG1, 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 91)
idTitleAuthorsYear
1
Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence. (26454229)
2015
2
Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. (24948340)
2014
3
And god created woman? The link between female sexuality and the mother-daughter relationship in Mayer-Rokitansky-Kuster-Hauser syndrome in adolescents. (24552429)
2014
4
An unusual cause of duodenal obstruction: mesenteric fibromatosis in a patient with type I Mayer-Rokitansky-Kuster-Hauser syndrome. (24918139)
2014
5
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. (23167253)
2013
6
Uterine adenomyosis which developed from hypoplastic uterus in postmenopausal woman with mayer-rokitansky-kuster-hauser syndrome: a case report. (25371879)
2013
7
Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case. (23901207)
2013
8
Mayer-Rokitansky-Kuster-Hauser syndrome: diagnosis with MR imaging. (23942608)
2013
9
Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. (23431465)
2013
10
MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. (23271504)
2013
11
Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. (22052385)
2012
12
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
13
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. (22377151)
2012
14
Diagnosis of a variant of Mayer-Rokitansky-Kuster-Hauser syndrome: useful MRI findings. (21717137)
2011
15
In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype. (21144508)
2011
16
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
17
Presurgical management of dysmenorrhea and endometriosis in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. (21718988)
2011
18
Mayer-Rokitansky-Kuster-Hauser syndrome and anal canal stenosis: case report and review of literature. (21129528)
2010
19
Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings. (19165657)
2009
20
Magnetic resonance imaging in the preoperative assessment of Mayer-Rokitansky-Kuster-Hauser syndrome. (19484353)
2009
21
Testicular feminization with persistent wolffian duct and mA1llerian remnants: similar to Mayer-Rokitansky-Kuster-Hauser syndrome. (19423097)
2009
22
Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula. (19635284)
2009
23
Magnetic resonance imaging diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. (19562052)
2008
24
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association). (18726671)
2008
25
Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type I. (18092845)
2008
26
Laparoscopic findings and pelvic anatomy in Mayer-Rokitansky-Kuster-Hauser syndrome. (17906042)
2007
27
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. (17449508)
2007
28
Mayer-Rokitansky-Kuster-Hauser syndrome presenting as premature thelarche in a young child. (17587284)
2007
29
Laparoscopically assisted sigmoid colon vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser syndrome: feasibility and short-term results. (17903225)
2007
30
Fourth case of uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant of Mayer-Rokitansky-Kuster-Hauser syndrome. (17718797)
2007
31
Mayer - Rokitansky - Kuster - Hauser syndrome. (17071421)
2006
32
Total endoscopic vaginal reconstruction in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. (16108754)
2005
33
DNA sequence variations of the entire anti-Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome. (15550498)
2005
34
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
35
Sexuality after sigmoid colpopoiesis in patients with Mayer-Rokitansky-Kuster-Hauser Syndrome. (12969705)
2003
36
Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter-->q22:). (12552332)
2003
37
Laparoscopic creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome by modification of Vecchietti's procedure. (11509785)
2001
38
Vaginal reconstruction in adolescent females with Mayer-Rokitansky-Kuster-Hauser syndrome. (12025659)
2001
39
Silver-Russell syndrome associated to Mayer-Rokitansky-Kuster-Hauser syndrome, diabetes and hirsutism. (11561746)
2001
40
Laparoscopic myomectomy in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. (10924639)
2000
41
MRI of round ligament leiomyoma associated with Mayer-Rokitansky-Kuster-Hauser syndrome. (10024414)
1999
42
The MA!laga flap for vaginoplasty in the Mayer-Rokitansky-Kuster-Hauser syndrome: experience and early-term results. (9283584)
1997
43
Laparoscopic-ultrasonographic combined technique for the creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome. (8941079)
1996
44
Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT). (9238673)
1996
45
A new laparoscopic procedure for creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome. (8893702)
1996
46
Mayer-Rokitansky-Kuster-Hauser syndrome with immature teratoma of the ovary at age 4 years. (7705686)
1995
47
Mayer-Rokitansky-Kuster-Hauser syndrome associated with endodermal sinus tumor of the ovary. (1894040)
1991
48
Mayer-Rokitansky-Kuster-Hauser syndrome with splenosis. A case report. (2213746)
1990
49
Computed tomography finding in Mayer-Rokitansky-Kuster-Hauser syndrome associated with endometriosis: a case report. (3301217)
1987
50
The Mayer-Rokitansky-Kuster-Hauser syndrome: sonographic aid to diagnosis. (3517378)
1986

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Clinvar genetic disease variations for Mayer-Rokitansky-Kuster-Hauser Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WNT4NM_030761.4(WNT4): c.647A> G (p.Glu216Gly)single nucleotide variantPathogenicrs121908650GRCh37Chr 1, 22446952: 22446952
2WNT4NM_030761.4(WNT4): c.247C> T (p.Arg83Trp)single nucleotide variantPathogenicrs121908652GRCh37Chr 1, 22456175: 22456175
3WNT4NM_030761.4(WNT4): c.35T> C (p.Leu12Pro)single nucleotide variantPathogenicrs121908653GRCh37Chr 1, 22469381: 22469381

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 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0WNT4, WNT5A
29.9WNT5A, WNT7A
3
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
49.3WNT4, WNT5A, WNT7A, WNT9B
5
Wnt Signaling Pathway (WikiPathways)
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
69.3WNT4, WNT5A, WNT7A, WNT9B
79.3WNT4, WNT5A, WNT7A, WNT9B
8
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
9
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
109.3WNT4, WNT5A, WNT7A, WNT9B
119.0TBX3, WNT4, WNT5A, WNT7A, WNT9B
12
Show member pathways
8.9TBX5, WNT4, WNT5A, WNT7A, WNT9B
138.8LAMC1, WNT4, WNT5A, WNT7A, WNT9B
148.5DLG1, WNT4, WNT5A, WNT7A, WNT9B
158.5DLG1, WNT4, WNT5A, WNT7A, WNT9B
16
Show member pathways
8.5DLG1, WNT4, WNT5A, WNT7A, WNT9B
17
Wnt signaling pathway (KEGG)
Show member pathways
8.0DLG1, 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
1endocytic vesicle membraneGO:003066610.1WNT4, WNT5A, WNT7A
2Golgi lumenGO:00057969.9WNT4, WNT5A, WNT7A
3basal laminaGO:00056059.8DLG1, LAMC1
4endoplasmic reticulum lumenGO:00057889.7WNT4, WNT5A, WNT7A
5proteinaceous extracellular matrixGO:00055788.7LAMC1, WNT4, WNT5A, WNT7A, WNT9B

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

(show top 50)    (show all 69)
idNameGO IDScoreTop Affiliating Genes
1cervix developmentGO:006006710.7LHX1, WNT5A
2paramesonephric duct developmentGO:006120510.7LHX1, WNT4
3positive regulation of meiotic nuclear divisionGO:004583610.7WNT4, WNT5A
4metanephric tubule formationGO:007217410.6WNT4, WNT9B
5primitive streak formationGO:009000910.6LHX1, WNT5A
6negative regulation of fibroblast growth factor receptor signaling pathwayGO:004003710.6WNT4, WNT5A
7oviduct developmentGO:006006610.6LHX1, WNT7A
8vagina developmentGO:006006810.5LHX1, WNT5A
9anterior/posterior axis specification, embryoGO:000859510.5TBX3, WNT5A
10uterus morphogenesisGO:006103810.5WNT7A, WNT9B
11forelimb morphogenesisGO:003513610.5TBX3, TBX5
12urinary bladder developmentGO:006015710.4TP63, WNT5A
13metanephric mesenchymal cell differentiationGO:007216210.4PAX2, WNT4
14mesonephric tubule developmentGO:007216410.4LHX1, WNT4, WNT9B
15metanephric S-shaped body morphogenesisGO:007228410.3LHX1, WT1
16establishment of planar polarityGO:000173610.3TP63, WNT5A
17cardiac muscle cell fate commitmentGO:006092310.3TBX3, WT1
18non-canonical Wnt signaling pathwayGO:003556710.3WNT4, WNT5A, WNT7A
19uterus developmentGO:006006510.3LHX1, WNT5A, WNT7A
20pronephros developmentGO:004879310.3LHX1, PAX2
21cellular response to transforming growth factor beta stimulusGO:007156010.2WNT4, WNT5A, WNT7A
22embryonic forelimb morphogenesisGO:003511510.1TBX3, TBX5, WNT7A
23embryonic digit morphogenesisGO:004273310.1TBX3, WNT5A, WNT7A
24negative regulation of mesenchymal cell apoptotic process involved in metanephros developmentGO:190021210.0PAX2, WT1
25metanephric mesenchyme developmentGO:007207510.0PAX2, WT1
26metanephric epithelium developmentGO:007220710.0PAX2, WT1
27cellular response to retinoic acidGO:007130010.0PAX2, WNT5A, WNT9B
28cell fate commitmentGO:00451659.9WNT4, WNT5A, WNT7A, WNT9B
29pattern specification processGO:00073899.9LHX1, TBX5, TP63
30metanephros developmentGO:00016569.9LHX1, WNT4, WT1
31canonical Wnt signaling pathwayGO:00600709.9WNT4, WNT5A, WNT7A, WNT9B
32positive regulation of epithelial cell proliferationGO:00506799.8LAMC1, PAX2, WNT5A
33mesenchymal to epithelial transitionGO:00602319.6PAX2, WNT4, WT1
34Wnt signaling pathwayGO:00160559.6WNT4, WNT5A, WNT7A, WNT9B
35male genitalia developmentGO:00305399.6TBX3, WNT9B, WT1
36neuron differentiationGO:00301829.5WNT4, WNT5A, WNT7A, WNT9B
37embryonic limb morphogenesisGO:00303269.4TBX5, TP63, WNT5A, WNT7A
38mesonephros developmentGO:00018239.4LHX1, PAX2, WNT4, WT1
39kidney developmentGO:00018229.4LHX1, WNT4, WNT9B, WT1
40palate developmentGO:00600219.3TBX3, WNT5A, WNT7A, WNT9B
41ureteric bud developmentGO:00016579.3DLG1, LHX1, WT1
42male gonad developmentGO:00085849.0WNT4, WNT5A, WT1
43multicellular organismal developmentGO:00072758.8PAX2, WNT4, WNT5A, WNT7A, WNT9B
44positive regulation of cell proliferationGO:00082848.5DLG1, PAX2, TBX3, WNT5A, WNT7A
45negative regulation of apoptotic processGO:00430668.2PAX2, TBX3, TP63, WNT5A, WNT7A, WT1
46branching involved in ureteric bud morphogenesisGO:00016588.2DLG1, LHX1, PAX2, WNT4, WNT9B, WT1
47positive regulation of transcription from RNA polymerase II promoterGO:00459447.9PAX2, TBX5, TP63, WNT5A, WNT7A, WT1
48negative regulation of transcription, DNA-templatedGO:00458927.8LHX1, PAX2, TBX3, TP63, WNT4, WNT5A
49transcription from RNA polymerase II promoterGO:00063667.7LHX1, PAX2, SHOX, TBX5, TP63, WT1
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:004801810.2WNT4, WNT5A, WNT7A
2frizzled bindingGO:00051099.7WNT4, WNT5A, WNT7A, WNT9B
3receptor bindingGO:00051029.3WNT4, WNT5A, WNT7A, WNT9B
4transcription regulatory region DNA bindingGO:00442128.8PAX2, TP63, WNT5A, WT1
5sequence-specific DNA bindingGO:00435658.0LHX1, SHOX, TBX3, TBX5, TP63, WT1
6transcription 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet