MCID: MYR002
MIFTS: 50

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, breast and ovary, 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 top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1mullerian aplasia and hyperandrogenism12.7
2hypoplastic thumb mullerian aplasia12.6
3mullerian aplasia12.4
4mullerian agenesis12.4
5michels caskey syndrome11.6
6mayer-rokitansky-küster-hauser syndrome type 211.5
7mayer-rokitansky-küster-hauser syndrome type 111.3
8hepatitis10.9
9schizophrenia10.7
10gastrointestinal stromal tumor10.7
11lung cancer10.7
12hiv-110.7
13asthma10.7
14hepatitis c virus10.7
15craniometaphyseal dysplasia10.7
16dopamine beta-hydroxylase deficiency10.7
17keratitis10.7
18retinoblastoma10.7
19trichotillomania10.7
20hyperalphalipoproteinemia10.7
21fragile x syndrome10.7
22anencephaly10.7
23brain injury10.7
24crohn's disease10.7
25diabetic neuropathy10.7
26leber congenital amaurosis10.7
27neutropenia10.7
28retinal vein occlusion10.7
29systemic mastocytosis10.7
30thrombocytopenia10.7
31traumatic brain injury10.7
32ulcerative colitis10.7
33fetal alcohol spectrum disorder10.7
34body dysmorphic disorder10.7
35colitis10.7
36ileitis10.7
37cysticercosis10.7
38choroiditis10.7
39constrictive pericarditis10.7
40cicatricial pemphigoid10.7
41multicentric reticulohistiocytosis10.7
42ecthyma10.7
43spermatocele10.7
44alveolar echinococcosis10.7
45otosclerosis10.7
46diabetic polyneuropathy10.7
47gout10.7
48angioid streaks10.7
49polyneuropathy10.7
50root resorption10.7

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, Breast, Ovary, Kidney, Heart, Cervix, Temporal lobe

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 92)
idTitleAuthorsYear
1
Inherited and acquired thrombophilia in Indian women experiencing unexplained recurrent pregnancy loss. (26227844)
2015
2
Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. (26182687)
2015
3
Mediastinectomy for management of chronic pyogranulomatous pleural disease in dogs. (24686857)
2014
4
Update on temporal lobe epilepsy. (23533737)
2013
5
Aggressive regimens for multidrug-resistant tuberculosis decrease all-cause mortality. (23516529)
2013
6
Pathoembryogenesis of terminal myelocystocele: terminal balloon in secondary neurulation of the chick embryo. (23780405)
2013
7
Cystic pancreatic lymphangioma. The first report of a preoperative pathological diagnosis by endoscopic ultrasound-guided cyst aspiration. (21904074)
2011
8
Expression and clinical significance of bromodomain-containing protein 7 in non-small cell lung cancer]. (22008115)
2011
9
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a family affair. (21670239)
2011
10
NOD-like receptors and RIG-I-like receptors in human eosinophils: activation by NOD1 and NOD2 agonists. (21978001)
2011
11
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. (21455487)
2011
12
Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters. (19902259)
2010
13
TNFR1 promoter -329G/T polymorphism results in allele-specific repression of TNFR1 expression. (18243134)
2008
14
EBV-encoded EBNA-6 binds and targets MRS18-2 to the nucleus, resulting in the disruption of pRb-E2F1 complexes. (18391203)
2008
15
Markers of endothelial activity are related to components of the metabolic syndrome, but not to circulating concentrations of the advanced glycation end-product N epsilon-carboxymethyl-lysine in healthy Swedish men. (17655851)
2007
16
Sphingosine kinase 1-mediated inhibition of Fas death signaling in rheumatoid arthritis B lymphoblastoid cells. (16508940)
2006
17
Blinded placebo crossover study of gabapentin in primary orthostatic tremor. (16532455)
2006
18
Toxicity assessment of Venezuelan Equine Encephalitis virus vaccine candidate strain V3526. (16219396)
2006
19
Comparison of low-dose intrathecal and epidural morphine and bupivacaine infiltration for postoperative pain control after surgery for lumbar disc disease. (16037732)
2005
20
Apolipoprotein D is down-regulated during malignant transformation of neurofibromas. (16153462)
2005
21
The correlation between the expansion volume and the contents of b-FGF and EGF in the expanded skin]. (15449630)
2004
22
Human cytomegalovirus infection of tumor cells downregulates NCAM (CD56): a novel mechanism for virus-induced tumor invasiveness. (15256054)
2004
23
Modulation of red cell glycolysis: interactions between vertebrate hemoglobins and cytoplasmic domains of band 3 red cell membrane proteins. (15087282)
2004
24
Correlation among mutans streptococci counts, dental caries, and IgA to Streptococcus mutans in saliva. (16089269)
2004
25
Oxysterol binding protein and its homologues: new regulatory factors involved in lipid metabolism. (15166789)
2004
26
Myeloperoxidase promotor polymorphism and risk of hepatoblastoma. (12800195)
2003
27
Multidetector CT angiography of peripheral vascular disease: a prospective comparison with intraarterial digital subtraction angiography. (12591682)
2003
28
Cytokeratin 20, AN43, PGDH, and COX-2 expression in transitional and squamous cell carcinoma of the bladder. (12954496)
2003
29
The 'spectraplakins': cytoskeletal giants with characteristics of both spectrin and plakin families. (12376554)
2002
30
Transforming growth factor-beta (TGF-beta) and tissue transglutaminase expression in the small intestine in children with coeliac disease. (12410804)
2002
31
Characterization of thrombomodulin gene mutations of the 5'-regulatory region. (12204814)
2002
32
Randomized pilot trial of betaINF1a (Avonex) in patients with inclusion body myositis. (11706093)
2001
33
Heritability of elevated factor VIII antigen levels in factor V Leiden families with thrombophilia. (10886197)
2000
34
Genomic organization and amplification of the human plakoglobin gene (JUP). (11016852)
2000
35
Prostaglandin E2 and IL-4 provide naive CD4+ T cells with distinct inhibitory signals for the priming of IFN-gamma production. (9344500)
1997
36
Neurotransmitter- and growth factor-induced cAMP response element binding protein phosphorylation in glial cell progenitors: role of calcium ions, protein kinase C, and mitogen-activated protein kinase/ribosomal S6 kinase pathway. (9006973)
1997
37
Regulation of immunomodulatory functions by granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in vivo. (8959941)
1996
38
The SH2 domain-containing tyrosine phosphatase PTP1D is required for interferon alpha/beta-induced gene expression. (8663536)
1996
39
Clinical management of infected root canal dentin. (9242125)
1996
40
Reversible hyperperfusion of the right medial temporal lobe in transient global amnesia. (8971124)
1996
41
Solvent effects on self-assembly of beta-amyloid peptide. (8527678)
1995
42
Cysteine-524 is not the only residue involved in the formation of disulphide-bonded dimers of the insulin receptor. (7980420)
1994
43
Regulation of expression of the 3 beta-hydroxysteroid dehydrogenases of human placenta and fetal adrenal. (8274430)
1993
44
Calcium protein signaling]. (8331782)
1993
45
Gastro-protection in vivo and in vitro]. (1296166)
1992
46
Membrane lipid peroxidation by UV-A: mechanism and implications. (2288712)
1990
47
Echocardiography in acute infectious myocarditis. (2934229)
1986
48
Vulvar dystrophy. (3987128)
1985
49
Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait. (6852450)
1983
50
Polypoid tracheitis associated with chronic cough in feedlot cattle. (5278198)
1969

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