MCID: MYR002
MIFTS: 53

Mayer-Rokitansky-Kuster-Hauser Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Reproductive diseases, Fetal 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 45 22
Mrkh Syndrome 45 22 23 51
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 45 22
Congenital Absence of the Uterus and Vagina 45 23
Mayer-Rokitansky-Küster-Hauser Syndrome 23 51
Genital Renal Ear Syndrome 45 23
Rokitansky Syndrome 23 51
Mrkh Anomaly 45 22
Mrk Anomaly 45 22
Cauv 45 22
 
Congenital Absence of Uterus and Vagina 22
Mayer Rokitansky Kuster Hauser Syndrome 45
Von Mayer Rokitansky Kuster Anomaly 45
Von Mayer-Rokitansky-Kuster Anomaly 22
Rokitansky Kuster Hauser Syndrome 65
Mullerian Dysgenesis 23
Mullerian Agenesis 23
Mullerian Aplasia 23
Gres Syndrome 45
Rkh Syndrome 45

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

Classifications:



External Ids:

Orphanet51 3109
ICD10 via Orphanet28 Q51.8
UMLS65 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 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 breast, and related mouse phenotypes are digestive/alimentary and craniofacial.

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.

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 all 44)
idRelated DiseaseScoreTop Affiliating Genes
1mullerian aplasia and hyperandrogenism12.3
2hypoplastic thumb mullerian aplasia12.2
3mullerian aplasia12.2
4mullerian agenesis12.2
5michels caskey syndrome11.2
6mayer-rokitansky-küster-hauser syndrome type 211.1
7mayer-rokitansky-küster-hauser syndrome type 110.9
8vaginitis10.8
9leiomyoma10.8
10gonadal dysgenesis10.8
11endometriosis10.7
12hyperprolactinemia10.5
13silver-russell syndrome10.5
14androgen insensitivity10.5
15total anomalous pulmonary venous return10.5
16pelviureteric junction obstruction10.5
17vaginal cancer10.5
18esophagitis10.5
19von willebrand's disease10.5
20amenorrhea10.5
21vacterl association10.5
22endodermal sinus tumor10.5
23teratoma10.5
24duodenal obstruction10.5
25kidney disease10.5
26situs inversus10.5
27peritonitis10.5
28duodenitis10.5
29neurofibromatosis10.5
30adenomyosis10.5
31complete androgen insensitivity syndrome10.5
32fibromatosis10.5
33murcs association10.5
34exstrophy-epispadias complex10.1TP63, WNT9B
35polydactyly, preaxial type ii10.1TBX3, TBX5
36joubert syndrome 1310.1TBX3, TBX5
37imperforate anus10.0
38cystic fibrosis10.0
39thrombocytopenia-absent radius syndrome10.0
40thrombocytopenia10.0
41holt-oram syndrome10.0TBX3, TBX5
42endocardium disease9.8TBX3, TBX5
43muscle eye brain disease9.6TBX3, TBX5, TP63, WNT4
44mccallum macadam johnston syndrome5.9DLG1, GALT, LAMC1, LHX1, SHOX, TBX3

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

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, Brain, Cervix

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 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4DLG1, TBX3, TP63, WNT5A, WNT9B
2MP:00053828.3DLG1, TBX3, TP63, WNT5A, WNT9B
3MP:00053718.0DLG1, TBX3, TBX5, TP63, WNT4, WNT5A
4MP:00028737.9LAMC1, LHX1, TBX3, TBX5, TP63, WNT4
5MP:00053907.9DLG1, TBX3, TBX5, TP63, WNT5A, WNT7A
6MP:00053677.6DLG1, LAMC1, LHX1, TP63, WNT4, WNT5A
7MP:00053797.5DLG1, LAMC1, LHX1, TBX3, TP63, WNT4
8MP:00053857.5LAMC1, LHX1, TBX3, TBX5, TP63, WNT5A
9MP:00053897.0DLG1, LAMC1, LHX1, TBX3, TP63, WNT4
10MP:00053806.7DLG1, LAMC1, LHX1, TBX3, TBX5, TP63
11MP:00053786.6DLG1, LAMC1, LHX1, TBX3, TBX5, TP63
12MP:00107686.3DLG1, LAMC1, LHX1, TBX3, TBX5, 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 98)
idTitleAuthorsYear
1
Robotic Sigmoid Vaginoplasty in an Adolescent Girl With Mayer-Rokitansky-Kuster-Hauser Syndrome. (27093154)
2016
2
A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis. (27190929)
2016
3
Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence. (26454229)
2015
4
Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. (24948340)
2014
5
And god created woman? The link between female sexuality and the mother-daughter relationship in Mayer-Rokitansky-Kuster-Hauser syndrome in adolescents. (24552429)
2014
6
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. (23167253)
2013
7
Uterine adenomyosis which developed from hypoplastic uterus in postmenopausal woman with mayer-rokitansky-kuster-hauser syndrome: a case report. (25371879)
2013
8
Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case. (23901207)
2013
9
Mayer-Rokitansky-Kuster-Hauser syndrome: diagnosis with MR imaging. (23942608)
2013
10
Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. (23431465)
2013
11
MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. (23271504)
2013
12
Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. (22052385)
2012
13
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
14
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. (22377151)
2012
15
Diagnosis of a variant of Mayer-Rokitansky-Kuster-Hauser syndrome: useful MRI findings. (21717137)
2011
16
In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype. (21144508)
2011
17
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
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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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
29.9WNT5A, WNT7A
39.4TBX5, TP63, WNT5A
49.1WNT4, WNT5A, WNT7A, WNT9B
59.1WNT4, WNT5A, WNT7A, WNT9B
6
Show member pathways
9.1WNT4, WNT5A, WNT7A, WNT9B
7
Show member pathways
9.1WNT4, WNT5A, WNT7A, WNT9B
89.1WNT4, WNT5A, WNT7A, WNT9B
9
Show member pathways
9.1WNT4, WNT5A, WNT7A, WNT9B
109.1WNT4, WNT5A, WNT7A, WNT9B
11
Show member pathways
9.1WNT4, WNT5A, WNT7A, WNT9B
12
Show member pathways
9.1WNT4, WNT5A, WNT7A, WNT9B
13
Show member pathways
9.1WNT4, WNT5A, WNT7A, WNT9B
14
Show member pathways
9.1WNT4, WNT5A, WNT7A, WNT9B
158.7TBX3, WNT4, WNT5A, WNT7A, WNT9B
16
Show member pathways
8.7TBX5, WNT4, WNT5A, WNT7A, WNT9B
178.5LAMC1, WNT4, WNT5A, WNT7A, WNT9B
188.3DLG1, WNT4, WNT5A, WNT7A, WNT9B
19
Show member pathways
8.3DLG1, WNT4, WNT5A, WNT7A, WNT9B
208.3DLG1, WNT4, WNT5A, WNT7A, WNT9B
21
Show member pathways
8.3DLG1, WNT4, WNT5A, WNT7A, WNT9B

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

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

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1paramesonephric duct developmentGO:006120510.6LHX1, WNT4
2cervix developmentGO:006006710.6LHX1, WNT5A
3primitive streak formationGO:009000910.6LHX1, WNT5A
4vagina developmentGO:006006810.6LHX1, WNT5A
5excitatory synapse assemblyGO:190486110.5WNT5A, WNT7A
6positive regulation of protein localization to synapseGO:190247410.5WNT5A, WNT7A
7positive regulation of endothelial cell migrationGO:001059510.5WNT5A, WNT7A
8urinary bladder developmentGO:006015710.5TP63, WNT5A
9establishment of planar polarityGO:000173610.5TP63, WNT5A
10negative regulation of fibroblast growth factor receptor signaling pathwayGO:004003710.4WNT4, WNT5A
11dorsal/ventral pattern formationGO:000995310.4LHX1, WNT7A
12sex differentiationGO:000754810.4WNT4, WNT7A
13post-anal tail morphogenesisGO:003634210.3TP63, WNT5A
14anterior/posterior axis specification, embryoGO:000859510.3TBX3, WNT5A
15embryonic hindlimb morphogenesisGO:003511610.3TBX3, WNT7A
16heart loopingGO:000194710.3TBX3, WNT5A
17mesonephros developmentGO:000182310.3LHX1, WNT4
18positive regulation of osteoblast differentiationGO:004566910.3TP63, WNT4
19metanephric tubule formationGO:007217410.2WNT4, WNT9B
20positive regulation of JNK cascadeGO:004633010.2WNT5A, WNT7A
21cardiac muscle cell differentiationGO:005500710.2TBX3, TBX5
22kidney morphogenesisGO:006099310.2WNT4, WNT9B
23branching involved in ureteric bud morphogenesisGO:000165810.2LHX1, WNT9B
24forelimb morphogenesisGO:003513610.2TBX3, TBX5
25uterus developmentGO:006006510.2LHX1, WNT5A, WNT7A
26pattern specification processGO:000738910.2LHX1, TBX5
27cartilage developmentGO:005121610.2WNT5A, WNT7A
28cell agingGO:000756910.2TBX3, TP63
29morphogenesis of an epitheliumGO:000200910.1TBX5, WNT5A
30cellular response to transforming growth factor beta stimulusGO:007156010.1WNT4, WNT5A, WNT7A
31non-canonical Wnt signaling pathwayGO:003556710.1WNT4, WNT5A, WNT7A
32embryonic forelimb morphogenesisGO:003511510.1TBX5, WNT7A
33mesonephric tubule developmentGO:007216410.0LHX1, WNT4, WNT9B
34kidney developmentGO:00018229.9LHX1, WNT4, WNT9B
35cell fate commitmentGO:00451659.6WNT4, WNT5A, WNT7A, WNT9B
36neuron differentiationGO:00301829.6WNT4, WNT5A, WNT7A, WNT9B
37cell-cell signalingGO:00072679.6LHX1, TBX5, WNT9B
38anatomical structure formation involved in morphogenesisGO:00486469.6LHX1, TP63
39canonical Wnt signaling pathwayGO:00600709.5WNT4, WNT5A, WNT7A, WNT9B
40negative regulation of apoptotic processGO:00430669.3TBX3, TP63, WNT5A, WNT7A
41negative regulation of transcription, DNA-templatedGO:00458929.2LHX1, TBX3, TP63, WNT4, WNT5A
42embryonic limb morphogenesisGO:00303269.1TBX5, TP63, WNT5A, WNT7A
43palate developmentGO:00600219.0TBX3, WNT5A, WNT7A, WNT9B
44Wnt signaling pathwayGO:00160559.0WNT4, WNT5A, WNT7A, WNT9B
45positive regulation of cell proliferationGO:00082848.8DLG1, TBX3, WNT5A, WNT7A
46positive regulation of transcription, DNA-templatedGO:00458938.6LHX1, TBX3, TBX5, TP63, WNT4, 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