MCID: MYR002
MIFTS: 48

Mayer-Rokitansky-Kuster-Hauser Syndrome malady

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

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

About this section


NIH Rare Diseases:41 Mayer-rokitansky-küster-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 based summary: Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mayer-rokitansky-küster-hauser syndrome, is related to vaginitis and mayer-rokitansky-küster-hauser syndrome type 1, 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 Wnt signaling network and Presenilin-Mediated Signaling. The compound retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include uterus, ovary and kidney, and related mouse phenotypes are respiratory system and digestive/alimentary.

Genetics Home Reference:21 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.

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

About this section

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

Name: Mayer-Rokitansky-Kuster-Hauser Syndrome 41
Mayer-Rokitansky-Küster-Hauser Syndrome 41 20 21 47
Mrkh Syndrome 41 21 47
Congenital Absence of the Uterus and Vagina 41 21
Genital Renal Ear Syndrome 41 21
Rokitansky Syndrome 41 47
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 41
Mayer Rokitansky Kuster Hauser Syndrome 41
Von Mayer Rokitansky Kuster Anomaly 41
 
Rokitansky Kuster Hauser Syndrome 60
Mullerian Dysgenesis 21
Mullerian Aplasia 21
Gres Syndrome 41
Rkh Syndrome 41
Mrkh Anomaly 41
Mrk Anomaly 41
Cauv 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
mayer-rokitansky-küster-hauser syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy


External Ids:

Orphanet47 3109
ICD10 via Orphanet26 Q51.8

Related Diseases for Mayer-Rokitansky-Kuster-Hauser Syndrome

About this section

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

About this section

Symptoms:

 47
  • 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:

(show all 10)
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 autosomal dominant inheritance HP:0000006
7 autosomal recessive inheritance HP:0000007
8 hypoplasia of the uterus HP:0000013
9 amenorrhea HP:0000141
10 aplasia of the vagina HP:0003250

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

About this section

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

About this section

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

About this section

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

31
Uterus, Ovary, Kidney, Breast, Cervix, Colon, Lung

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

About this section

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

About this section

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

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. (24948340)
2014
2
And god created woman? The link between female sexuality and the mother-daughter relationship in Mayer-Rokitansky-Kuster-Hauser syndrome in adolescents. (24552429)
2014
3
An unusual cause of duodenal obstruction: mesenteric fibromatosis in a patient with type I Mayer-Rokitansky-Kuster-Hauser syndrome. (24918139)
2014
4
Colovaginoplasty in a case of mayer-rokitansky-kuster-hauser syndrome. (24834388)
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
Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome. (19171330)
2009
24
Magnetic resonance imaging diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. (19562052)
2008
25
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association). (18726671)
2008
26
Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type I. (18092845)
2008
27
Laparoscopic findings and pelvic anatomy in Mayer-Rokitansky-Kuster-Hauser syndrome. (17906042)
2007
28
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. (17449508)
2007
29
Mayer-Rokitansky-Kuster-Hauser syndrome presenting as premature thelarche in a young child. (17587284)
2007
30
Laparoscopically assisted sigmoid colon vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser syndrome: feasibility and short-term results. (17903225)
2007
31
Fourth case of uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant of Mayer-Rokitansky-Kuster-Hauser syndrome. (17718797)
2007
32
Mayer - Rokitansky - Kuster - Hauser syndrome. (17071421)
2006
33
Total endoscopic vaginal reconstruction in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. (16108754)
2005
34
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
35
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
36
Sexuality after sigmoid colpopoiesis in patients with Mayer-Rokitansky-Kuster-Hauser Syndrome. (12969705)
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

About this section

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

6
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

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

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

About this section

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

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6WNT7A, WNT5A
29.4WNT7A, WNT4, WNT5A
39.4WNT5A, WNT4, WNT7A
49.4WNT5A, WNT4, WNT7A
5
Show member pathways
9.4WNT5A, WNT4, WNT7A
6
Show member pathways
9.4WNT5A, WNT4, WNT7A
7
Show member pathways
9.0TBX5, WNT5A, WNT4, WNT7A
8
Show member pathways
8.9WNT5A, WNT4, WNT9B, WNT7A
9
Show member pathways
Translation Non genomic rapid action of Androgen Receptor58
8.9WNT5A, WNT4, WNT9B, WNT7A
108.9WNT7A, WNT9B, WNT4, WNT5A
11
Show member pathways
8.9WNT7A, WNT9B, WNT4, WNT5A
12
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
8.9WNT7A, WNT9B, WNT4, WNT5A
13
Show member pathways
8.9WNT5A, WNT4, WNT9B, WNT7A
14
Show member pathways
8.9WNT5A, WNT4, WNT9B, WNT7A
158.3LAMC1, WNT7A, WNT9B, WNT4, WNT5A
16
Show member pathways
Wnt Signaling Pathway NetPath36
8.2DLG1, WNT5A, WNT4, WNT9B, WNT7A
178.2WNT7A, WNT9B, WNT4, WNT5A, DLG1
18
Show member pathways
8.2WNT7A, WNT9B, WNT4, WNT5A, DLG1
198.2WNT7A, WNT9B, WNT4, WNT5A, DLG1

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

About this section
Sources:
43Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1retinoic acid43 249.3TBX5, WNT5A, WNT9B, TP63

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00057969.4WNT5A, WNT4, WNT7A
2cell surfaceGO:00099869.4WNT5A, WNT4, WNT7A
3endoplasmic reticulum lumenGO:00057889.3WNT5A, WNT4, WNT7A
4proteinaceous extracellular matrixGO:00055789.0WNT5A, WNT4, WNT9B, WNT7A
5extracellular spaceGO:00056158.3LAMC1, WNT7A, WNT9B, WNT4, WNT5A
6extracellular regionGO:00055768.0LAMC1, WNT7A, WNT9B, WNT4, WNT5A

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:006120510.3LHX1, WNT4
2cervix developmentGO:006006710.3WNT5A, LHX1
3positive regulation of meiosisGO:004583610.2WNT4, WNT5A
4negative regulation of fibroblast growth factor receptor signaling pathwayGO:004003710.2WNT4, WNT5A
5uterus developmentGO:006006510.2WNT5A, LHX1
6primitive streak formationGO:009000910.2WNT5A, LHX1
7vagina developmentGO:006006810.2WNT5A, LHX1
8anterior/posterior axis specification, embryoGO:000859510.2WNT5A, TBX3
9oviduct developmentGO:006006610.2WNT7A, LHX1
10epithelial to mesenchymal transitionGO:000183710.2WNT5A, WNT4
11forelimb morphogenesisGO:003513610.1TBX5, TBX3
12heart loopingGO:000194710.1WNT5A, TBX3
13dorsal/ventral pattern formationGO:000995310.0LHX1, WNT7A
14male genitalia developmentGO:003053910.0WNT9B, TBX3
15positive regulation of canonical Wnt signaling pathwayGO:00902639.9WNT7A, WNT4
16kidney developmentGO:00018229.9WNT4, LHX1
17uterus morphogenesisGO:00610389.9WNT7A, WNT9B
18pattern specification processGO:00073899.9TBX5, LHX1
19positive regulation of JNK cascadeGO:00463309.9WNT7A, WNT5A
20negative regulation of cell migrationGO:00303369.9WNT4, TBX5
21lens development in camera-type eyeGO:00020889.8DLG1, WNT5A
22cellular response to retinoic acidGO:00713009.8WNT9B, WNT5A
23cellular response to transforming growth factor beta stimulusGO:00715609.8WNT5A, WNT4, WNT7A
24canonical Wnt signaling pathwayGO:00600709.8WNT5A, WNT4, WNT7A
25negative regulation of epithelial cell proliferationGO:00506809.8DLG1, WNT5A
26embryonic digit morphogenesisGO:00427339.8WNT7A, WNT5A, TBX3
27male gonad developmentGO:00085849.7WNT5A, WNT4
28embryonic forelimb morphogenesisGO:00351159.7WNT7A, TBX5, TBX3
29urinary bladder developmentGO:00601579.7TP63, WNT5A
30lung developmentGO:00303249.7TBX5, WNT5A
31cell agingGO:00075699.7TBX3, TP63
32establishment of planar polarityGO:00017369.7TP63, WNT5A
33post-anal tail morphogenesisGO:00363429.6WNT5A, TP63
34cell-cell signalingGO:00072679.6LHX1, WNT9B, TBX5
35positive regulation of mesenchymal cell proliferationGO:00020539.6TP63, WNT5A
36embryonic limb morphogenesisGO:00303269.5TBX5, TP63
37positive regulation of osteoblast differentiationGO:00456699.5TP63, WNT4
38negative regulation of canonical Wnt signaling pathwayGO:00900909.5WNT5A, WNT4
39keratinocyte differentiationGO:00302169.5TP63, WNT5A
40skeletal system developmentGO:00015019.4SHOX, TP63, TBX3
41smooth muscle tissue developmentGO:00487459.4DLG1, TP63
42cell fate commitmentGO:00451659.3WNT5A, WNT4, WNT9B, WNT7A
43neuron differentiationGO:00301829.3WNT7A, WNT9B, WNT4, WNT5A
44palate developmentGO:00600219.2TBX3, WNT5A, WNT9B, WNT7A
45branching involved in ureteric bud morphogenesisGO:00016589.2LHX1, WNT9B, WNT4, DLG1
46axon guidanceGO:00074119.2DLG1, WNT5A, LAMC1
47negative regulation of apoptotic processGO:00430668.9TP63, WNT7A, WNT5A, TBX3
48negative regulation of transcription, DNA-templatedGO:00458928.8TBX3, WNT5A, WNT4, TP63, LHX1
49positive regulation of transcription from RNA polymerase II promoterGO:00459448.7TP63, WNT7A, WNT5A, TBX5
50positive regulation of transcription, DNA-templatedGO:00458938.0TBX3, LHX1, TP63, WNT7A, WNT4, WNT5A

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

idNameGO IDScoreTop Affiliating Genes
1receptor agonist activityGO:00480189.3WNT7A, WNT4, WNT5A
2frizzled bindingGO:00051098.9WNT5A, WNT4, WNT9B, WNT7A
3sequence-specific DNA bindingGO:00435658.6TBX3, TBX5, TP63, LHX1
4sequence-specific DNA binding transcription factor activityGO:00037007.7LHX1, SHOX, TP63, WNT5A, TBX5, TBX3

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet