CAUV
MCID: MYR002
MIFTS: 46

Mayer-Rokitansky-Kuster-Hauser Syndrome (CAUV) malady

Genetic diseases, Rare diseases, Reproductive diseases, Nephrological diseases, Ear diseases categories
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Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Mayer-rokitansky-k√ľster-hauser (mrkh) syndrome is a disorder that mainly affects the female reproductive system. this condition causes the vagina and uterus to be underdeveloped or absent. ovaries are usually present and functional. additional features may include kidney and/or skeletal abnormalities. while the cause of mrkh syndrome is unknown, it likely results¬†from a combination of genetic and environmental factors. most cases occur in¬†women with no history of the disorder in their family.¬†less often, the condition is passed through generations in a family. some of these¬†cases appear to be inherited in an autosomal dominant fashion.¬†although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction. last updated: 6/14/2011

MalaCards: Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as congenital absence of the uterus and vagina, is related to vaginitis and gonadal dysgenesis. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is LHX1 (LIM homeobox 1), and among its related pathways are Wnt signaling network and Presenilin-Mediated Signaling. The compound retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and ovary, and related mouse phenotypes are respiratory system and digestive/alimentary.

Genetics Home Reference:21 Mayer-Rokitansky-K√ľster-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.

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

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43NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 62UMLS
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Classifications:



Aliases & Descriptions:

mayer-rokitansky-kuster-hauser syndrome 43
congenital absence of the uterus and vagina 43 21
mayer rokitansky kuster hauser syndrome 43 20
genital renal ear syndrome 43 21
mrkh syndrome 43 21
uterus bipartitus solidus rudimentarius cum vagina solida 43
mayer-rokitansky-k√ľster-hauser syndrome 21
von mayer rokitansky kuster anomaly 43
rokitansky kuster hauser syndrome 62
mullerian dysgenesis 21
mullerian aplasia 21
gres syndrome 43
rkh syndrome 43
mrkh anomaly 43
mrk anomaly 43
cauv 43


Related Diseases for Mayer-Rokitansky-Kuster-Hauser Syndrome

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17GeneCards, 18GeneDecks
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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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Drugs & Therapeutics for Mayer-Rokitansky-Kuster-Hauser Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

Genetic Tests for Mayer-Rokitansky-Kuster-Hauser Syndrome

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20GeneTests
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Genetic tests related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

id Genetic test Affiliating Genes
1 Mayer-Rokitansky-Kuster-Hauser Syndrome20

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

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33MalaCards
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MalaCards organs/tissues related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

33
Uterus, Kidney, Ovary, Colon, Lung

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

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37MGI
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Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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52PubMed
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Articles related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. (23167253)
2013
2
Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case. (23901207)
2013
3
Mayer-Rokitansky-Kuster-Hauser syndrome: diagnosis with MR imaging. (23942608)
2013
4
Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. (23431465)
2013
5
MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. (23271504)
2013
6
Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. (22052385)
2012
7
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
8
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. (22377151)
2012
9
Diagnosis of a variant of Mayer-Rokitansky-Kuster-Hauser syndrome: useful MRI findings. (21717137)
2011
10
In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype. (21144508)
2011
11
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
12
Presurgical management of dysmenorrhea and endometriosis in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. (21718988)
2011
13
Mayer-Rokitansky-Kuster-Hauser syndrome and anal canal stenosis: case report and review of literature. (21129528)
2010
14
Anomalous vasculature in Mayer-Rokitansky-Kuster-Hauser syndrome. (20116787)
2010
15
Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings. (19165657)
2009
16
Magnetic resonance imaging in the preoperative assessment of Mayer-Rokitansky-Kuster-Hauser syndrome. (19484353)
2009
17
Testicular feminization with persistent wolffian duct and mA1llerian remnants: similar to Mayer-Rokitansky-Kuster-Hauser syndrome. (19423097)
2009
18
Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula. (19635284)
2009
19
Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome. (19171330)
2009
20
Magnetic resonance imaging diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. (19562052)
2008
21
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association). (18726671)
2008
22
Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type I. (18092845)
2008
23
Laparoscopic findings and pelvic anatomy in Mayer-Rokitansky-Kuster-Hauser syndrome. (17906042)
2007
24
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. (17449508)
2007
25
Mayer-Rokitansky-Kuster-Hauser syndrome presenting as premature thelarche in a young child. (17587284)
2007
26
Laparoscopically assisted sigmoid colon vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser syndrome: feasibility and short-term results. (17903225)
2007
27
Fourth case of uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant of Mayer-Rokitansky-Kuster-Hauser syndrome. (17718797)
2007
28
Mayer - Rokitansky - Kuster - Hauser syndrome. (17071421)
2006
29
Total endoscopic vaginal reconstruction in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. (16108754)
2005
30
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
31
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
32
Sexuality after sigmoid colpopoiesis in patients with Mayer-Rokitansky-Kuster-Hauser Syndrome. (12969705)
2003
33
Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter-->q22:). (12552332)
2003
34
Primary invasive vaginal cancer in the setting of the Mayer-Rokitansky-Kuster-Hauser syndrome. (11972406)
2002
35
Laparoscopic creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome by modification of Vecchietti's procedure. (11509785)
2001
36
Vaginal reconstruction in adolescent females with Mayer-Rokitansky-Kuster-Hauser syndrome. (12025659)
2001
37
Silver-Russell syndrome associated to Mayer-Rokitansky-Kuster-Hauser syndrome, diabetes and hirsutism. (11561746)
2001
38
Laparoscopic myomectomy in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. (10924639)
2000
39
MRI of round ligament leiomyoma associated with Mayer-Rokitansky-Kuster-Hauser syndrome. (10024414)
1999
40
Prolapse of the neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome. A case report. (10394550)
1999
41
Laparoscopy for pelvic pain in the Mayer-Rokitansky-Kuster-Hauser syndrome. A case report. (9564646)
1998
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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Expression for genes affiliated with Mayer-Rokitansky-Kuster-Hauser Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mayer-Rokitansky-Kuster-Hauser Syndrome

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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50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 57SinoBiological, 30KEGG, 60Thomson Reuters, 55Reactome, 61Tocris Bioscience, 51PharmGKB, 54R&D Systems
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Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6WNT7A, WNT5A
29.3WNT4, WNT7A, WNT5A
39.3WNT4, WNT7A, WNT5A
4
Show member pathways
9.3WNT7A, WNT4, WNT5A
5
Show member pathways
9.3WNT7A, WNT5A, WNT4
69.3WNT5A, WNT4, WNT7A
7
Show member pathways
8.9WNT7A, WNT4, WNT5A, TBX5
8
Show member pathways
8.8WNT7A, WNT9B, WNT4, WNT5A
9
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
8.8WNT9B, WNT4, WNT5A, WNT7A
108.8WNT9B, WNT5A, WNT7A, WNT4
11
Show member pathways
8.8WNT9B, WNT4, WNT5A, WNT7A
12
Show member pathways
8.8WNT4, WNT7A, WNT9B, WNT5A
13
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
8.8WNT5A, WNT7A, WNT9B, WNT4
14
Show member pathways
8.8WNT5A, WNT4, WNT9B, WNT7A
158.3LAMC1, WNT7A, WNT9B, WNT5A, WNT4
168.2WNT9B, DLG1, WNT7A, WNT4, WNT5A
17
Show member pathways
8.2WNT5A, WNT7A, WNT9B, WNT4, DLG1
18
Show member pathways
Wnt Signaling Pathway NetPath38
8.2WNT5A, WNT7A, WNT9B, WNT4, DLG1
198.2WNT5A, WNT4, DLG1, WNT9B, WNT7A

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

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45Novoseek, 24HMDB
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Compounds related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoic acid45 249.3TBX5, WNT5A, WNT9B, TP63

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

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16Gene Ontology
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Cellular components related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.4WNT5A, WNT4, WNT7A
2cell surfaceGO:0099869.3WNT5A, WNT4, WNT7A
3endoplasmic reticulum lumenGO:0057889.2WNT4, WNT7A, WNT5A
4proteinaceous extracellular matrixGO:0055788.9WNT9B, WNT7A, WNT4, WNT5A
5extracellular spaceGO:0056158.3LAMC1, WNT7A, WNT4, WNT5A, WNT9B
6extracellular regionGO:0055768.0WNT5A, LAMC1, WNT7A, WNT9B, WNT4

Biological processes related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards/GeneDecks:

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1paramesonephric duct developmentGO:06120510.3LHX1, WNT4
2cervix developmentGO:06006710.3WNT5A, LHX1
3uterus developmentGO:06006510.2WNT5A, LHX1
4primitive streak formationGO:09000910.2WNT5A, LHX1
5vagina developmentGO:06006810.2WNT5A, LHX1
6positive regulation of meiosisGO:04583610.2WNT4, WNT5A
7negative regulation of fibroblast growth factor receptor signaling pathwayGO:04003710.2WNT4, WNT5A
8anterior/posterior axis specification, embryoGO:00859510.2WNT5A, TBX3
9oviduct developmentGO:06006610.2WNT7A, LHX1
10forelimb morphogenesisGO:03513610.1TBX5, TBX3
11epithelial to mesenchymal transitionGO:00183710.1WNT5A, WNT4
12dorsal/ventral pattern formationGO:00995310.1LHX1, WNT7A
13heart loopingGO:00194710.1WNT5A, TBX3
14male genitalia developmentGO:03053910.0WNT9B, TBX3
15uterus morphogenesisGO:0610389.9WNT7A, WNT9B
16pattern specification processGO:0073899.9TBX5, LHX1
17kidney developmentGO:0018229.9WNT4, LHX1
18positive regulation of canonical Wnt signaling pathwayGO:0902639.9WNT7A, WNT4
19positive regulation of JNK cascadeGO:0463309.9WNT7A, WNT5A
20negative regulation of cell migrationGO:0303369.8WNT4, TBX5
21lens development in camera-type eyeGO:0020889.8DLG1, WNT5A
22cellular response to retinoic acidGO:0713009.8WNT9B, WNT5A
23cellular response to transforming growth factor beta stimulusGO:0715609.8WNT5A, WNT4, WNT7A
24negative regulation of epithelial cell proliferationGO:0506809.8DLG1, WNT5A
25canonical Wnt signaling pathwayGO:0600709.8WNT5A, WNT4, WNT7A
26embryonic digit morphogenesisGO:0427339.8WNT7A, WNT5A, TBX3
27embryonic forelimb morphogenesisGO:0351159.7WNT7A, TBX5, TBX3
28male gonad developmentGO:0085849.7WNT5A, WNT4
29urinary bladder developmentGO:0601579.7TP63, WNT5A
30lung developmentGO:0303249.7TBX5, WNT5A
31cell agingGO:0075699.7TBX3, TP63
32establishment of planar polarityGO:0017369.7TP63, WNT5A
33post-anal tail morphogenesisGO:0363429.6WNT5A, TP63
34cell-cell signalingGO:0072679.6LHX1, WNT9B, TBX5
35positive regulation of mesenchymal cell proliferationGO:0020539.6TP63, WNT5A
36embryonic limb morphogenesisGO:0303269.5TBX5, TP63
37positive regulation of osteoblast differentiationGO:0456699.5TP63, WNT4
38negative regulation of canonical Wnt signaling pathwayGO:0900909.5WNT5A, WNT4
39keratinocyte differentiationGO:0302169.5TP63, WNT5A
40skeletal system developmentGO:0015019.4SHOX, TP63, TBX3
41smooth muscle tissue developmentGO:0487459.4DLG1, TP63
42cell fate commitmentGO:0451659.3WNT5A, WNT4, WNT9B, WNT7A
43neuron differentiationGO:0301829.3WNT7A, WNT9B, WNT4, WNT5A
44palate developmentGO:0600219.2TBX3, WNT5A, WNT9B, WNT7A
45axon guidanceGO:0074119.2DLG1, WNT5A, LAMC1
46branching involved in ureteric bud morphogenesisGO:0016589.2LHX1, WNT9B, WNT4, DLG1
47negative regulation of apoptotic processGO:0430668.9TP63, WNT7A, WNT5A, TBX3
48negative regulation of transcription, DNA-templatedGO:0458928.8TBX3, WNT5A, WNT4, TP63, LHX1
49positive regulation of transcription from RNA polymerase II promoterGO:0459448.7TP63, WNT7A, WNT5A, TBX5
50positive regulation of transcription, DNA-templatedGO:0458938.0TBX3, LHX1, TP63, WNT7A, WNT4, WNT5A

Molecular functions related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor agonist activityGO:0480189.2WNT4, WNT5A, WNT7A
2frizzled bindingGO:0051098.8WNT9B, WNT7A, WNT4, WNT5A
3sequence-specific DNA bindingGO:0435658.7TBX5, TBX3, LHX1, TP63
4sequence-specific DNA binding transcription factor activityGO:0037007.7LHX1, TBX5, WNT5A, TBX3, TP63, SHOX

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

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Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

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26ICD10 via Orphanet
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