CAUV
MCID: MYR002
MIFTS: 37

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

Reproductive diseases, Nephrological diseases, Ear diseases categories

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 32MalaCards
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NIH Rare Diseases:42 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: Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as congenital absence of the uterus and vagina, is related to gonadal dysgenesis and endometriosis. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is LHX1 (LIM homeobox 1), and among its related pathways are ALK2 signaling events and Wnt signaling network. Affiliated tissues include uterus, ovary and kidney, and related mouse phenotypes are no phenotypic analysis and normal.

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

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42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 60UMLS
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Classifications:



Aliases & Descriptions:

mayer-rokitansky-kuster-hauser syndrome 42
congenital absence of the uterus and vagina 42 21
mayer rokitansky kuster hauser syndrome 42 20
genital renal ear syndrome 42 21
mayer-rokitansky-küster-hauser syndrome 21
rokitansky kuster hauser syndrome 60
mullerian dysgenesis 21
mullerian aplasia 21
gres syndrome 42
mrkh syndrome 21
cauv 42


Related Diseases for Mayer-Rokitansky-Kuster-Hauser Syndrome

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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

Clinical Features for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Search CenterWatch 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 Syndrome20

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

32
Uterus, Ovary, Kidney, Breast

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

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36MGI
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MGI Mouse Phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.0WNT4, DLG1, AMH, AMHR2, LHX1
2MP:00028738.3LHX1, TBX3, TBX5, WNT4, WNT7A, LAMC1
3MP:00053718.3TBX3, TBX5, DLG1, WNT4, WNT7A, WNT5A
4MP:00053858.1LHX1, AMHR2, TBX3, TBX5, WNT7A, LAMC1
5MP:00053798.1LHX1, AMHR2, AMH, TBX3, DLG1, WNT4
6MP:00053907.9DMRT3, TBX3, TBX5, DLG1, WNT7A, WNT5A
7MP:00053827.6LHX1, DMRT3, TBX3, DLG1, WNT9B, WNT5A
8MP:00053787.5LHX1, AMHR2, TBX3, DLG1, WNT4, WNT5A
9MP:00053677.5LHX1, AMHR2, DLG1, WNT4, WNT9B, WNT5A
10MP:00053767.4AMHR2, AMH, GALT, TBX3, TBX5, DLG1
11MP:00053806.6TBX5, TBX3, AMHR2, LHX1, DLG1, WNT4
12MP:00053896.2TP63, LHX1, AMHR2, AMH, DMRT3, TBX3
13MP:00107686.0TBX5, TBX3, DMRT3, AMHR2, LHX1, DLG1

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mayer-Rokitansky-Kuster-Hauser Syndrome

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

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37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 59Tocris Bioscience, 12EMD Millipore, 53Reactome, 52R&D Systems
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Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0AMH, AMHR2
29.9WNT5A, WNT7A
39.6WNT4, WNT7A, WNT5A
49.6WNT5A, WNT7A, WNT4
5
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9.3WNT5A, WNT7A, WNT4, TBX5
68.8WNT4, WNT9B, WNT7A, WNT5A
7
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8.8WNT4, WNT9B, WNT7A, WNT5A
8
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8.8WNT5A, WNT7A, WNT9B, WNT4
9
Transcription Androgen Receptor nuclear signaling
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8.8WNT5A, WNT7A, WNT9B, WNT4
108.3WNT4, WNT9B, WNT7A, WNT5A, LAMC1
11
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8.3DLG1, WNT4, WNT9B, WNT7A, WNT5A
12
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8.3DLG1, WNT4, WNT9B, WNT7A, WNT5A
138.3DLG1, WNT4, WNT9B, WNT7A, WNT5A
148.0WNT5A, WNT7A, WNT9B, WNT4, DLG1, AMH

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

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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
1endoplasmic reticulum lumenGO:0057889.6WNT5A, WNT7A, WNT4
2Golgi lumenGO:0057969.5WNT4, WNT7A, WNT5A
3proteinaceous extracellular matrixGO:0055788.8WNT5A, WNT7A, WNT9B, WNT4
4extracellular spaceGO:0056158.2LAMC1, AMH, WNT4, WNT9B, WNT7A, WNT5A
5extracellular regionGO:0055767.8AMH, WNT4, WNT9B, WNT7A, WNT5A, LAMC1

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

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1paramesonephric duct developmentGO:06120510.4WNT4, LHX1
2cervix developmentGO:06006710.4WNT5A, LHX1
3positive regulation of meiosisGO:04583610.3WNT5A, WNT4
4oviduct developmentGO:06006610.3WNT7A, LHX1
5Mullerian duct regressionGO:00188010.3AMH, AMHR2
6primitive streak formationGO:09000910.3LHX1, WNT5A
7uterus developmentGO:06006510.3LHX1, WNT5A
8urogenital system developmentGO:00165510.2LHX1, AMH
9negative regulation of fibroblast growth factor receptor signaling pathwayGO:04003710.2WNT4, WNT5A
10anterior/posterior axis specification, embryoGO:00859510.2TBX3, WNT5A
11vagina developmentGO:06006810.2WNT5A, LHX1
12urinary bladder developmentGO:06015710.1TP63, WNT5A
13forelimb morphogenesisGO:03513610.1TBX3, TBX5
14establishment of planar polarityGO:00173610.1WNT5A, TP63
15cellular response to transforming growth factor beta stimulusGO:07156010.0WNT4, WNT7A, WNT5A
16embryonic digit morphogenesisGO:04273310.0TBX3, WNT7A, WNT5A
17gonadal mesoderm developmentGO:00750610.0AMH, TSPY1
18post-anal tail morphogenesisGO:03634210.0WNT5A, TP63
19dorsal/ventral pattern formationGO:0099539.9WNT7A, LHX1
20canonical Wnt receptor signaling pathwayGO:0600709.9WNT5A, WNT7A, WNT4
21embryonic forelimb morphogenesisGO:0351159.9TBX3, TBX5, WNT7A
22cell agingGO:0075699.9TBX3, TP63
23epithelial to mesenchymal transitionGO:0018379.8WNT5A, WNT4
24smooth muscle tissue developmentGO:0487459.8TP63, DLG1
25uterus morphogenesisGO:0610389.7WNT7A, WNT9B
26lens development in camera-type eyeGO:0020889.7DLG1, WNT5A
27skeletal system developmentGO:0015019.6TP63, TBX3, SHOX
28positive regulation of mesenchymal cell proliferationGO:0020539.5TP63, WNT5A
29male genitalia developmentGO:0305399.5WNT9B, TBX3
30negative regulation of transcription, DNA-dependentGO:0458929.4LHX1, TBX3, WNT4, WNT5A, TP63
31negative regulation of apoptotic processGO:0430669.3TBX3, WNT4, WNT7A, WNT5A, TP63
32cell fate commitmentGO:0451659.2WNT4, WNT9B, WNT7A, WNT5A
33neuron differentiationGO:0301829.2WNT4, WNT9B, WNT7A, WNT5A
34palate developmentGO:0600219.2TBX3, WNT9B, WNT7A, WNT5A
35branching involved in ureteric bud morphogenesisGO:0016589.1WNT9B, WNT4, DLG1, LHX1
36cell-cell signalingGO:0072679.0LHX1, AMH, TBX5, WNT4, WNT9B
37sex differentiationGO:0075488.9TSPY1, WNT7A, DMRT3, AMH, AMHR2
38positive regulation of transcription, DNA-dependentGO:0458938.8LHX1, TBX3, TBX5, WNT4, WNT7A, WNT5A

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

idNameGO IDScoreTop Affiliating Genes
1receptor agonist activityGO:0480189.5WNT4, WNT7A, WNT5A
2frizzled bindingGO:0051098.8WNT5A, WNT7A, WNT9B, WNT4
3sequence-specific DNA bindingGO:0435658.7TP63, TBX5, TBX3, DMRT3, LHX1
4sequence-specific DNA binding transcription factor activityGO:0037007.7LHX1, DMRT3, SHOX, TBX3, TBX5, WNT5A

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

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