RKH SYNDROME
MCID: MYR002
MIFTS: 55

Mayer-Rokitansky-Kuster-Hauser Syndrome (RKH 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 52 24 70
Mrkh Syndrome 24 25 54 70
Mayer-Rokitansky-Küster-Hauser Syndrome 25 54
Congenital Absence of Uterus and Vagina 24 54
Rokitansky-Kuster-Hauser Syndrome 70 27
Rokitansky Kuster Hauser Syndrome 25 68
Rokitansky Syndrome 25 54
Mrkh Anomaly 24 70
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 24
Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 54
Congenital Absence of the Uterus and Vagina 25
 
Von Mayer-Rokitansky-Kuster Anomaly 24
Genital Renal Ear Syndrome 25
Mrkh Syndrome Type 1 54
Mullerian Dysgenesis 25
Rokitansky Sequence 54
Mullerian Agenesis 25
Mullerian Aplasia 25
Rkh Syndrome 70
Mrk Anomaly 24
Cauv 24

Characteristics:

Orphanet epidemiological data:

54
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:

64
mayer-rokitansky-kuster-hauser syndrome:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 277000
ICD10 via Orphanet31 Q51.8
MedGen37 C1698581

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

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OMIM:52 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 Array, Array and Array. 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, kidney and cervix, and related mouse phenotypes are Decreased viability in esophageal squamous lineage and muscle.

UniProtKB/Swiss-Prot:70 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 related to Mayer-Rokitansky-Kuster-Hauser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
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
6leiomyoma10.6
7gonadal dysgenesis10.6
8vaginitis10.6
9endometriosis10.5
10adenomyosis10.4
11hyperprolactinemia10.3
12silver-russell syndrome10.3
13androgen insensitivity10.3
14total anomalous pulmonary venous return10.3
15pelviureteric junction obstruction10.3
16vaginal cancer10.3
17esophagitis10.3
18von willebrand's disease10.3
19urethritis10.3
20amenorrhea10.3
21endodermal sinus tumor10.3
22teratoma10.3
23duodenal obstruction10.3
24kidney disease10.3
25situs inversus10.3
26peritonitis10.3
27duodenitis10.3
28neurofibromatosis10.3
29complete androgen insensitivity syndrome10.3
30fibromatosis10.3
31murcs association10.3
32syndactyly, type iv10.1TBX3, TBX5
33adamts10-related weill-marchesani syndrome10.1PAX2, TBX5
34joubert syndrome 1310.1TBX3, TBX5
35mucinous adenofibroma10.1PAX2, WT1
36exotropia10.1WNT7A, WT1
37pseudohypoparathyroidism ia10.0PAX2, TBX3, TBX5
38diprosopia9.9LAMC1, PAX2, WT1
39superficial urinary bladder cancer9.9PAX2, TP63
40myasthenia gravis congenital9.9TBX3, TBX5, TP63, WNT4
41thrombocytopenia-absent radius syndrome9.9
42thrombocytopenia9.9
43anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis8.2DLG1, 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 & Phenotypes 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:

 54 64 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the kidney54 Frequent (79-30%)
2 horseshoe kidney64 54 Occasional (29-5%) HP:0000085
3 ectopic kidney64 54 Occasional (29-5%) HP:0000086
4 unilateral renal agenesis64 54 Occasional (29-5%) HP:0000122
5 aplasia of the uterus64 54 Very frequent (99-80%) HP:0000151
6 vertebral fusion64 54 Occasional (29-5%) HP:0002948
7 abnormal form of the vertebral bodies64 54 Occasional (29-5%) HP:0003312
8 vertebral segmentation defect54 Occasional (29-5%)
9 abnormality of the sacrum64 54 Occasional (29-5%) HP:0005107
10 hypoplasia of the vagina64 54 Very frequent (99-80%) HP:0008726
11 hypoplasia of the uterus64 HP:0000013
12 amenorrhea64 HP:0000141
13 aplasia of the vagina64 HP:0003250

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00235-A8.1DLG1, LHX1, SHOX, TBX3, TBX5, TP63

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6DLG1, LAMC1, TBX3, TBX5, TP63, WT1
2MP:00053718.5DLG1, TBX3, TBX5, TP63, WNT4, WNT5A
3MP:00028738.2LAMC1, LHX1, TBX3, TBX5, TP63, WNT4
4MP:00053858.1LAMC1, LHX1, PAX2, TBX3, TBX5, TP63
5MP:00053677.7DLG1, LAMC1, LHX1, PAX2, TP63, WNT4
6MP:00053787.5DLG1, LAMC1, LHX1, TBX3, TBX5, TP63
7MP:00053797.3DLG1, LAMC1, LHX1, PAX2, TBX3, TP63
8MP:00053806.7DLG1, LAMC1, LHX1, PAX2, TBX3, TBX5
9MP:00107686.7DLG1, LAMC1, LHX1, PAX2, TBX3, TBX5
10MP:00053896.2DLG1, LAMC1, LHX1, PAX2, TBX3, TP63

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 Syndrome27
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:

36
Uterus, Kidney, Cervix, Ovary, Lung, Colon

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Epigenetic modifications of primordial reproductive tract: A common etiologic pathway for Mayer-Rokitansky-Kuster-Hauser Syndrome and endometriosis? (27063075)
2016
2
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. (28216916)
2016
3
Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome. (27241658)
2016
4
Robotic Sigmoid Vaginoplasty in an Adolescent Girl With Mayer-Rokitansky-Kuster-Hauser Syndrome. (27093154)
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
Long-Term Outcomes of Laparoscopic Bean Vaginoplasty (Modified Vecchietti Procedure) for Mayer-Rokitansky-Kuster-Hauser Syndrome. (27120395)
2016
7
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
8
A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis. (27190929)
2016
9
Rare Case of Leiomyoma and Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome. (27843659)
2016
10
An unusual cause of urinary incontinence: Urethral coitus in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. (27617320)
2016
11
Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas. (25468053)
2015
12
Mayer-Rokitansky-Kuster-Hauser syndrome: a review. (26586965)
2015
13
A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas in hypoplastic uterus. (26752861)
2015
14
Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence. (26454229)
2015
15
Colovaginoplasty in a case of mayer-rokitansky-kuster-hauser syndrome. (24834388)
2014
16
And god created woman? The link between female sexuality and the mother-daughter relationship in Mayer-Rokitansky-Kuster-Hauser syndrome in adolescents. (24552429)
2014
17
Importance of Laparoscopic Assessment of the Uterine Adnexa in a Mayer-Rokitansky-Kuster-Hauser Syndrome Type II Case. (25729598)
2014
18
Mayer-rokitansky-kuster-hauser syndrome associated with severe inferior vena cava stenosis. (25136466)
2014
19
An unusual cause of duodenal obstruction: mesenteric fibromatosis in a patient with type I Mayer-Rokitansky-Kuster-Hauser syndrome. (24918139)
2014
20
Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. (24948340)
2014
21
Mayer-Rokitansky-Kuster-Hauser syndrome: diagnosis with MR imaging. (23942608)
2013
22
Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. (23431465)
2013
23
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature. (24251185)
2013
24
Large leiomyoma in a woman with Mayer-Rokitansky-Kuster-Hauser syndrome. (23705045)
2013
25
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. (23167253)
2013
26
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
27
Uterine adenomyosis which developed from hypoplastic uterus in postmenopausal woman with mayer-rokitansky-kuster-hauser syndrome: a case report. (25371879)
2013
28
Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case. (23901207)
2013
29
MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. (23271504)
2013
30
Laparoscopic Davydov correction of a failed gracilis flap neovagina in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome with a pelvic kidney. (23465266)
2013
31
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
32
Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. (22052385)
2012
33
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. (22377151)
2012
34
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
35
In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype. (21144508)
2011
36
Diagnosis of a variant of Mayer-Rokitansky-Kuster-Hauser syndrome: useful MRI findings. (21717137)
2011
37
Presurgical management of dysmenorrhea and endometriosis in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. (21718988)
2011
38
Laparoscopic evaluation of pelvic pain with Surgicel vaginoplasty in a woman with Mayer Rokitansky Kuster Hauser syndrome. (20728979)
2011
39
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
40
Chronic kidney disease in Mayer-Rokitansky-Kuster-Hauser Syndrome. (21206686)
2010
41
Mayer-Rokitansky-Kuster-Hauser syndrome and anal canal stenosis: case report and review of literature. (21129528)
2010
42
Mayer-rokitansky-kuster-hauser syndrome: surgical management of two cases. (22091331)
2010
43
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. (20847698)
2010
44
Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report. (21253547)
2010
45
Anomalous vasculature in Mayer-Rokitansky-Kuster-Hauser syndrome. (20116787)
2010
46
Creation of a neovagina after Creatsas modification of Williams vaginoplasty for the treatment of 200 patients with Mayer-Rokitansky-Kuster-Hauser syndrome. (19939365)
2010
47
Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings. (19165657)
2009
48
Two cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with situs inversus totalis: coincidence or co-existence? (19493518)
2009
49
Sexuality after laparoscopic peritoneal vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser syndrome. (19896598)
2009
50
Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula. (19635284)
2009

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 21)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9WNT4, WNT5A
29.8WNT5A, WNT7A
39.5WNT4, WNT5A, WNT7A
49.5WNT4, WNT5A, WNT7A
59.3WNT4, WNT5A, WNT7A, WNT9B
6
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
7
Show member pathways
9.3WNT4, 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
11
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
12
Show member pathways
9.3WNT4, WNT5A, WNT7A, WNT9B
139.3WNT4, WNT5A, WNT7A, WNT9B
149.3WNT4, WNT5A, WNT7A, WNT9B
15
Show member pathways
9.0TBX5, WNT4, WNT5A, WNT7A, WNT9B
168.9TBX3, WNT4, WNT5A, WNT7A, WNT9B
178.8PAX2, TBX5, TP63, WNT5A, WT1
188.8LAMC1, WNT4, WNT5A, WNT7A, WNT9B
198.5DLG1, WNT4, WNT5A, WNT7A, WNT9B
20
Show member pathways
8.5DLG1, WNT4, WNT5A, WNT7A, WNT9B
218.5DLG1, 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:003066610.2WNT4, WNT5A, WNT7A
2Golgi lumenGO:000579610.2WNT4, WNT5A, WNT7A
3endoplasmic reticulum lumenGO:00057889.7LAMC1, WNT4, WNT5A, WNT7A
4proteinaceous 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 74)
idNameGO IDScoreTop Affiliating Genes
1branching morphogenesis of an epithelial tubeGO:004875410.8WNT4, WNT9B
2kidney morphogenesisGO:006099310.8WNT4, WNT9B
3metanephric tubule formationGO:007217410.8WNT4, WNT9B
4paramesonephric duct developmentGO:006120510.8LHX1, WNT4
5adrenal gland developmentGO:003032510.8WNT4, WT1
6metanephric S-shaped body morphogenesisGO:007228410.8LHX1, WT1
7cervix developmentGO:006006710.7LHX1, WNT5A
8midbrain dopaminergic neuron differentiationGO:190494810.7WNT5A, WNT9B
9negative regulation of fibroblast growth factor receptor signaling pathwayGO:004003710.7WNT4, WNT5A
10anatomical structure formation involved in morphogenesisGO:004864610.7LHX1, TP63
11positive regulation of meiotic nuclear divisionGO:004583610.7WNT4, WNT5A
12morphogenesis of an epitheliumGO:000200910.7TBX5, WNT5A
13primitive streak formationGO:009000910.6LHX1, WNT5A
14oviduct developmentGO:006006610.6LHX1, WNT7A
15establishment of planar polarityGO:000173610.6TP63, WNT5A
16excitatory synapse assemblyGO:190486110.6WNT5A, WNT7A
17cardiac muscle cell fate commitmentGO:006092310.6TBX3, WT1
18positive regulation of mesenchymal cell proliferationGO:000205310.6TP63, WNT5A
19anterior/posterior axis specification, embryoGO:000859510.6TBX3, WNT5A
20limb morphogenesisGO:003510810.6TBX3, WNT5A
21metanephric mesenchymal cell differentiationGO:007216210.6PAX2, WNT4
22cardiac muscle cell differentiationGO:005500710.6TBX3, TBX5
23sex differentiationGO:000754810.6WNT4, WNT7A
24positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.5LHX1, PAX2
25forelimb morphogenesisGO:003513610.5TBX3, TBX5
26metanephric epithelium developmentGO:007220710.5PAX2, WT1
27metanephric mesenchyme developmentGO:007207510.5PAX2, WT1
28post-anal tail morphogenesisGO:003634210.5TP63, WNT5A
29cell agingGO:000756910.5TBX3, TP63
30vagina developmentGO:006006810.5LHX1, WNT5A
31cochlea morphogenesisGO:009010310.5PAX2, WNT5A
32mesonephric tubule developmentGO:007216410.5LHX1, WNT4, WNT9B
33postsynapse assemblyGO:009906810.5WNT5A, WNT7A
34presynapse assemblyGO:009905410.5WNT5A, WNT7A
35embryonic hindlimb morphogenesisGO:003511610.5TBX3, WNT7A
36pronephros developmentGO:004879310.5LHX1, PAX2
37male gonad developmentGO:000858410.4WNT4, WNT5A, WT1
38urinary bladder developmentGO:006015710.4TP63, WNT5A
39uterus morphogenesisGO:006103810.4WNT7A, WNT9B
40neuron differentiationGO:003018210.4WNT4, WNT5A, WNT9B
41urogenital system developmentGO:000165510.4LHX1, PAX2
42cellular response to transforming growth factor beta stimulusGO:007156010.4WNT4, WNT5A, WNT7A
43pattern specification processGO:000738910.3LHX1, TBX5, TP63
44mesonephros developmentGO:000182310.3LHX1, PAX2, WNT4
45non-canonical Wnt signaling pathwayGO:003556710.3WNT4, WNT5A, WNT7A
46positive regulation of canonical Wnt signaling pathwayGO:009026310.3WNT4, WNT5A, WNT7A
47male genitalia developmentGO:003053910.3TBX3, WNT9B, WT1
48positive regulation of receptor activityGO:200027310.3WNT4, WNT5A, WNT7A
49animal organ morphogenesisGO:000988710.3LHX1, TBX3, TP63
50mesenchymal to epithelial transitionGO:006023110.3PAX2, WNT4, WT1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1receptor agonist activityGO:004801810.3WNT4, WNT5A, WNT7A
2frizzled bindingGO:000510910.0WNT4, WNT5A, WNT7A, WNT9B
3receptor bindingGO:000510210.0WNT4, WNT5A, WNT7A, WNT9B
4transcription regulatory region DNA bindingGO:00442129.1PAX2, TP63, WNT5A, WT1
5sequence-specific DNA bindingGO:00435659.1LHX1, SHOX, TBX3, TBX5, TP63, WT1
6transcription factor activity, sequence-specific DNA bindingGO:00037008.6LHX1, SHOX, TBX3, TBX5, TP63, WNT5A
7DNA bindingGO:00036778.6LHX1, PAX2, SHOX, TBX3, TBX5, TP63

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet