RKH SYNDROME
MCID: MYR002
MIFTS: 58

Mayer-Rokitansky-Kuster-Hauser Syndrome (RKH SYNDROME)

Categories: Fetal diseases, Nephrological diseases, Rare diseases, Reproductive diseases

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

MalaCards integrated aliases for Mayer-Rokitansky-Kuster-Hauser Syndrome:

Name: Mayer-Rokitansky-Kuster-Hauser Syndrome 56 52 58 73
Mrkh Syndrome 56 74 52 25 58 73
Rokitansky Kuster Hauser Syndrome 25 29 6 71
Congenital Absence of Uterus and Vagina 56 52 58
Rokitansky Syndrome 52 25 58
Mullerian Aplasia 52 25 58
Congenital Absence of the Uterus and Vagina 52 25
Mayer-Rokitansky-Küster-Hauser Syndrome 52 25
Genital Renal Ear Syndrome 52 25
Mullerian Dysgenesis 52 25
Mullerian Agenesis 25 36
Mrkh Anomaly 56 73
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 56
Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 58
Congenital Absence of Uterus and Vagina; Cauv 56
Syndrome, Mayer-Rokitansky-Kuster-Hauser 39
Von Mayer-Rokitansky-Kuster Anomaly 56
Rokitansky-Kuster-Hauser Syndrome 73
Aplasia of the Mullerian Ducts 58
Mullerian Aplasia/dysgenesis 56
Mullerian Duct Failure 58
Mrkh Syndrome Type 1 58
Rokitansky Sequence 58
Müllerian Agenesis 52
Rkh Syndrome 73
Mrk Anomaly 56
Cauv 56

Characteristics:

Orphanet epidemiological data:

58
mayer-rokitansky-kuster-hauser syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy;
mayer-rokitansky-kuster-hauser syndrome type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy;
mullerian aplasia
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
mayer-rokitansky-kuster-hauser syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 277000
KEGG 36 H00600
MESH via Orphanet 44 C537371
ICD10 via Orphanet 33 Q51.8
UMLS via Orphanet 72 C0431637 C0431648 C1698581
MedGen 41 C1698581
UMLS 71 C1698581

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3109 Definition Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms). Epidemiology MRKH syndrome has a worldwide incidence of 1/4500 live female births. Clinical description MRKH syndrome is most often diagnosed in adolescence as the first symptom is usually a primary amenorrhea in young women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia. MRKH syndrome type 1 and 2 patients lack the uterus and the upper 2/3 of the vagina leading to difficulties with sexual intercourse in some. Pelvic pain can be reported in those with uterine remnants. As the uterus is missing or not functional, women cannot bear children, but ovaries are normal and functional. Other associated malformations seen in MRKH type 2 include kidney abnormalities (40% of cases), skeletal abnormalities (20-25%), hearing impairment (10%), and, more rarely, heart defects. Etiology The exact etiology is largely unknown, even if the spectrum of malformations encountered suggests a developmental defect of the intermediate mesoderm during embryogenesis (by the end of the 4th week of fetal life), leading to an alteration of the blastema of the cervicothoracic somites and the pronephric ducts. It is now clear that MRKH syndrome has a genetic origin through increasing family descriptions and numerous genetic studies already completed. These latter have led to reveal several chromosomal abnormalities associated with the disease and several putative candidate genes have been described. Diagnostic methods The karyotype of MRKH patients is always 46, XX. Hormone levels are normal, showing normal and functional ovaries without hyperandrogenism. Transabdominal ultrasonography must be the first investigation in evaluating patients with suspected utero-vaginal aplasia. MRI can be performed to clearly visualize the malformation. A full check-up (renal ultrasonography, spine radiography, heart echography, audiogram) must be undertaken to search for any associated malformations. Differential diagnosis Differential diagnosis includes isolated vaginal atresia, which is found in various syndromes such as McKusick-Kaufman syndrome, androgen insensitivity syndrome, Mullerian aplasia and hyperandrogenism, and renal-genital-middle ear anomalies (see these terms). Genetic counseling MRKH syndrome was thought to be purely sporadic but familial cases seem to be inherited autosomal dominantly with incomplete penetrance and variable expressivity , and in these cases genetic counseling can be beneficial. Management and treatment The medical care of MRKH patients requires the coordinated efforts of pediatricians , gynecologists, surgeons, endocrinologists and psychologists. Treatment consisting in creating a neovagina must be offered to patients only when they are ready to start sexual activity and when emotionally mature (around 17-21 years). Frank's (nonsurgical) method requires the application of vaginal dilators on the vaginal dimple for at least 20 minutes/day for several months. If unsuccessful, various surgical procedures can be performed to create a neovagina. Clinical follow-up and regular intercourse are essential components to a successful outcome. Psychological support and counseling is strongly recommended for affected women and should provide patients with future fertility options (in vitro fertilization of one's own oocytes followed by surrogate pregnancy or adoption). For the associated malformations in MRKH type 2, specific medical care is directed toward the anomalies. Prognosis MRKH syndrome is not a life threatening disease. With treatment, sexual relationships are possible and fertility options are available. Visit the Orphanet disease page for more resources.

MalaCards based summary : Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to ureterocele and mullerian aplasia and hyperandrogenism. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is H19 (H19 Imprinted Maternally Expressed Transcript), and among its related pathways/superpathways are Wnt signaling pathway and PI3K-Akt signaling pathway. The drugs Calcineurin Inhibitors and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and ovary, and related phenotypes are aplasia of the uterus and hypoplasia of the vagina

Genetics Home Reference : 25 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, although external genitalia are normal. 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 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. When only reproductive organs are affected, the condition is classified as MRKH syndrome type 1. Some women with MRKH syndrome also have abnormalities in other parts of the body; in these cases, the condition is classified as MRKH syndrome type 2. In this form of the condition, the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome type 2 may also have hearing loss or heart defects.

OMIM : 56 Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830). (277000)

KEGG : 36 Mullerian agenesis, also known as Mayer Rokitansky Kuster Hauser (MRKH) syndrome, is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It has been reported that Mullerian aplasia and hyperandrogenism is caused by mutations in the WNT4 gene. WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals.

UniProtKB/Swiss-Prot : 73 Rokitansky-Kuster-Hauser syndrome: Characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls.

Wikipedia : 74 Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) or vaginal agenesis, is... more...

Related Diseases for Mayer-Rokitansky-Kuster-Hauser Syndrome

Diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 225)
# Related Disease Score Top Affiliating Genes
1 ureterocele 31.3 PAX2 LHX1
2 mullerian aplasia and hyperandrogenism 30.6 WNT7A WNT5A WNT4
3 chromosome 17q12 deletion syndrome 30.6 LHX1 HNF1B
4 disorders of sexual development 30.4 WT1 WNT4 SHOX
5 renal hypodysplasia/aplasia 1 29.8 WT1 WNT9B WNT4 PAX2 LHX1 HNF1B
6 renal hypoplasia 29.5 WT1 WNT9B WNT4 PAX2 LHX1 HNF1B
7 cleft palate, isolated 28.9 WNT9B WNT5A TP63 TBX5
8 premature ovarian failure 1 28.7 WT1 WNT4 TP63 SHOX GALT
9 partial bilateral aplasia of the mullerian ducts 12.7
10 rokitansky sequence 12.6
11 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.1
12 pseudounicornuate uterus 11.4
13 true unicornuate uterus 11.4
14 amenorrhea 11.3
15 leiomyoma 10.9
16 gonadal dysgenesis 10.9
17 endometriosis 10.9
18 46 xx gonadal dysgenesis 10.9
19 hypogonadism 10.9
20 hemometra 10.8
21 uterine anomalies 10.8
22 adenomyosis 10.8
23 myoma 10.8
24 infertility 10.8
25 vaginal atresia 10.8
26 ovarian cancer 10.8
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
28 androgen insensitivity syndrome 10.7
29 renal dysplasia 10.7
30 thrombocytopenia-absent radius syndrome 10.7
31 anxiety 10.7
32 sensorineural hearing loss 10.7
33 squamous cell papilloma 10.7
34 thrombocytopenia 10.7
35 papilloma 10.7
36 adenocarcinoma 10.7
37 turner syndrome 10.7
38 pulmonary valve stenosis 10.7
39 end stage renal disease 10.7
40 neurofibromatosis, type ii 10.6
41 aortic valve disease 1 10.6
42 neurofibromatosis, type i 10.6
43 silver-russell syndrome 1 10.6
44 thrombophilia due to thrombin defect 10.6
45 velocardiofacial syndrome 10.6
46 duodenal atresia 10.6
47 ovarian dysgenesis 1 10.6
48 paine syndrome 10.6
49 gonadal agenesis 10.6
50 branchiootic syndrome 1 10.6

Graphical network of the top 20 diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome:



Diseases related to Mayer-Rokitansky-Kuster-Hauser Syndrome

Symptoms & Phenotypes for Mayer-Rokitansky-Kuster-Hauser Syndrome

Human phenotypes related to Mayer-Rokitansky-Kuster-Hauser Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000151
2 hypoplasia of the vagina 58 31 hallmark (90%) Very frequent (99-80%) HP:0008726
3 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
4 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
5 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
6 vertebral fusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002948
7 abnormal sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
8 unilateral renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000122
9 vertebral segmentation defect 58 Occasional (29-5%)
10 abnormality of the kidney 58 Frequent (79-30%)
11 hypoplasia of the uterus 31 HP:0000013
12 amenorrhea 31 HP:0000141
13 aplasia of the vagina 31 HP:0003250

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Female:
normal external genitalia

Endocrine Features:
amenorrhea, primary
normal female secondary sexual characteristics

Genitourinary Internal Genitalia Female:
aplasia of mullerian duct derivatives
dysgenesis of mullerian duct derivatives
functional ovaries
congenital absence or severe hypoplasia of the upper two-thirds of vagina
congenital absence or severe hypoplasia of uterus
more

Clinical features from OMIM:

277000

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.64 TBX5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.64 HNF1B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.64 SHOX
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.64 WT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.64 WT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.64 SHOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.64 WT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 SHOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.64 TBX3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 SHOX WT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.64 WT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 WT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.64 WT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.64 HNF1B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.64 TBX5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.64 TBX5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.64 WT1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.64 TBX3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.64 TBX5

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

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.27 DLG1 HNF1B LAMC1 LHX1 PAX2 TBX3
2 endocrine/exocrine gland MP:0005379 10.21 DLG1 GALT HNF1B LAMC1 LHX1 PAX2
3 cellular MP:0005384 10.18 DLG1 GALT HNF1B LAMC1 LHX1 PAX2
4 growth/size/body region MP:0005378 10.18 DLG1 GALT HNF1B LAMC1 LHX1 TBX3
5 mortality/aging MP:0010768 10.17 DLG1 GALT HNF1B LAMC1 LHX1 PAX2
6 cardiovascular system MP:0005385 10.15 LAMC1 LHX1 PAX2 TBX3 TBX5 TP63
7 limbs/digits/tail MP:0005371 9.91 DLG1 TBX3 TBX5 TP63 WNT4 WNT5A
8 muscle MP:0005369 9.86 DLG1 HNF1B LAMC1 TBX3 TBX5 TP63
9 normal MP:0002873 9.81 LAMC1 LHX1 TBX3 TBX5 TP63 WNT4
10 renal/urinary system MP:0005367 9.65 DLG1 HNF1B LAMC1 LHX1 PAX2 TP63
11 reproductive system MP:0005389 9.4 DLG1 GALT LAMC1 LHX1 PAX2 TBX3

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

Drugs for Mayer-Rokitansky-Kuster-Hauser Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcineurin Inhibitors Phase 3
2
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
3
Prednisone Approved, Vet_approved 53-03-2 5865
4
Mycophenolic acid Approved 24280-93-1 446541
5
Azathioprine Approved 446-86-6 2265
6 Immunosuppressive Agents
7 Immunologic Factors
8 Thymoglobulin

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study Recruiting NCT03277430 Phase 3 Tacrolimus
2 Assessment of Quality of Global and Sexual Life and Impact of Surgical and Non Surgical Vaginal Aplasia in Patients With a Rokitansky Syndrome Unknown status NCT01911884
3 Feasibility Study of Uterine Transplantation From Living Donors in Terms of Efficacy and Safety in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) Recruiting NCT03689842
4 Uterus Transplantation From a Multi-organ Donor: A Prospective Trial Recruiting NCT03252795
5 Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser Recruiting NCT02967822
6 Uterus Transplantation LD - Feasibility Study - Sahlgrenska - Bellevue Medical Centre Recruiting NCT03590405
7 Uterine Transplantation for the Treatment of Uterine Factor Infertility Recruiting NCT02573415
8 Penn Uterine Transplantation for Uterine Factor Infertility Trial Active, not recruiting NCT03307356
9 Uterine Transplantation and Pregnancy Induction in Women Affected by Absolute Uterine Factor Infertility Active, not recruiting NCT02656550
10 Uterine Transplant in Absolute Uterine Infertility (AUIF) Not yet recruiting NCT02741102
11 Feasibility Study of Uterus Transplantation Procedure From a Live Donor Obtaining the Graft by Laparoscopy Not yet recruiting NCT04314869

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

Genetic Tests for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

# Genetic test Affiliating Genes
1 Rokitansky Kuster Hauser Syndrome 29

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

40
Uterus, Kidney, Ovary, Heart, Cervix, Bone, Breast

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

(show top 50) (show all 425)
# Title Authors PMID Year
1
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. 61 56
21278390 2011
2
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. 56 61
19889212 2009
3
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. 56 61
17359527 2007
4
WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. 61 56
16959810 2007
5
The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches. 56 61
16441882 2006
6
Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome. 6
21897448 2012
7
Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome. 56
18001722 2008
8
Genomic imbalances associated with mullerian aplasia. 56
18039948 2008
9
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study. 56
18182450 2008
10
Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. 56
16691591 2006
11
Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly. 56
16007613 2005
12
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. 56
12794695 2003
13
Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. 56
11115062 2000
14
Defects of urogenital development in mice lacking Emx2. 56
9165114 1997
15
Bilateral femoral hypoplasia associated with Rokitansky sequence: another example of a mesodermal malformation spectrum? 56
8116669 1994
16
Familial occurrence of hereditary renal adysplasia with müllerian anomalies. 56
8462192 1993
17
Rokitansky sequence in association with the facio-auriculo-vertebral sequence: part of a mesodermal malformation spectrum? 56
2240024 1990
18
Müllerian aplasia associated with maternal deficiency of galactose-1-phosphate uridyl transferase. 56
3036608 1987
19
Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA). 56
3591829 1987
20
The concurrence of facioauriculovertebral spectrum and the Rokitansky syndrome. 56
6742026 1984
21
Renal--skeletal--ear- and facial-anomalies in combination with the Mayer--Rokitansky--Küster (MRK) syndrome. 56
7173481 1982
22
Reduction in oocyte number following prenatal exposure to a diet high in galactose. 56
7302587 1981
23
Hereditary urogenital adysplasia. 56
7449179 1980
24
Familial renal agenesis and urogenital malformations. Seminal vesicle cyst and vaginal cyst with bicornuate uterus in siblings. 56
419378 1979
25
Aplasia of the Müllerian system: evidence for probable sex-limited autosomal dominant inheritance. 56
728579 1978
26
Patterns of anomalies in children with malformed ears. 56
966914 1976
27
Familial bilateral renal agenesis and hereditary renal adysplasia. 56
4744207 1973
28
Familial occurrence of congenital absence of the vagina. 56
4635205 1972
29
[Familial form of Rokitansky-Kuster-Hauser syndrome]. 56
5962876 1966
30
One hundred cases of congenital absence of the vagina. 56
18104218 1949
31
Typical and atypical pelvic MRI characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a comprehensive analysis of 201 patients. 61
32140817 2020
32
Mayer-Rokitansky-Küster-Hauser syndrome with a solitary duplex kidney and anal stenosis: a rare case report. 61
32561448 2020
33
Study on depressive symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: an analysis of 141 cases. 61
32448241 2020
34
Sexual function and quality of life after the creation of a neovagina in women with Mayer-Rokitansky-Küster-Hauser syndrome: comparison of vaginal dilation and surgical procedures. 61
32386614 2020
35
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. 61
32378186 2020
36
Lower urinary tract symptoms in patients with Mayer-Rokitansky-Kuster-Hauser syndrome after neo-vagina creation by Davydov's procedure. 61
32377800 2020
37
Mayer-Rokitansky-Küster-Hauser syndrome as an interdisciplinary problem. 61
32348039 2020
38
Prevascularized Tissue-Engineered Human Vaginal Mucosa: In Vitro Optimization and In Vivo Validation. 61
32354258 2020
39
Neovagina Creation: A Novel Improved Laparoscopic Vecchietti Procedure in Patients with Mayer-Rokitansky-Küster-Hauster Syndrome. 61
32283327 2020
40
Four cases of Mayer-Rokitansky-Küster-Hauser syndrome treated via non-surgical vaginal reconstruction using uterine cervical dilators. 61
31854484 2020
41
[Urethral coitus due to congenital abnormality of the genitalia]. 61
32267647 2020
42
Anxiety symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: a cross-sectional study. 61
31977552 2020
43
Postoperative evaluation of chronic pain in patients with Mayer - Rokitansky - Küster - Hauser (MRKH) syndrome and uterine horn remnant: Experience of a tertiary referring gynaecological department. 61
31760177 2020
44
Inguinal herniation of left ovary, fallopian tube and rudimentary left horn of bicornuate uterus associated with type 2 Mayer-Rakitansky-Kuster-Hauser (MRKH) syndrome in a teenage girl: A case report and literature review. 61
32021881 2020
45
Resilient Customized Hollow Vaginal Stent for the Treatment of Vaginal Agenesis in Mayer-Rokitansky-Kuster-Hauser Syndrome. 61
32165845 2020
46
Leiomyomas in a case of Mayer-Rokitansky-Kuster-Hauser syndrome: Case report. 61
31706647 2020
47
Oocyte Retrieval during Laparoscopic Vaginoplasty to Reduce Invasiveness in the Treatment of Mayer-Rokitansky-Küster-Hauser Syndrome. 61
31129299 2020
48
Mayer-Rokitansky-Küster-Hauser syndrome - case studies, methods of treatment and the future prospects of human uterus transplantation. 61
32016956 2020
49
An alternative approach to vaginal dilation in patients with Meyer-Rokitanski-Küster-Hauser syndrome: two case reports. 61
31994956 2020
50
Feasibility study for performing uterus transplantation in the Netherlands. 61
32128452 2020

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNRNPCL1 NM_001013631.2(HNRNPCL1):c.764del (p.Asp255fs)deletion Uncertain significance 547869 rs767679031 1:12907379-12907379 1:12847526-12847526
2 WNT4 NM_030761.5(WNT4):c.944T>G (p.Phe315Cys)SNV Uncertain significance 587509 rs1334778982 1:22446655-22446655 1:22120162-22120162

Copy number variations for Mayer-Rokitansky-Kuster-Hauser Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 109760 17 28800000 35400000 Microdeletion LHX1 Mayer-Rokitansky-Kuster-Hauser syndrome
2 109761 17 28800000 35400000 Microdeletion TCF2 Mayer-Rokitansky-Kuster-Hauser syndrome

Expression for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

Pathways for Mayer-Rokitansky-Kuster-Hauser Syndrome

Pathways related to Mayer-Rokitansky-Kuster-Hauser Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 WNT9B WNT7A WNT5A WNT4 LAMC1 DLG1
2 12.66 WNT9B WNT7A WNT5A WNT4 LAMC1
3
Show member pathways
12.36 TBX3 LHX1 LAMC1 HNF1B
4
Show member pathways
12.34 WNT9B WNT7A WNT5A WNT4
5
Show member pathways
12.29 WNT9B WNT7A WNT5A WNT4
6 12.2 WNT9B WNT7A WNT5A WNT4 HNF1B
7
Show member pathways
12.17 WNT9B WNT7A WNT5A WNT4 DLG1
8
Show member pathways
12.15 WNT9B WNT7A WNT5A WNT4
9 12.12 WNT9B WNT7A WNT5A WNT4
10
Show member pathways
12.05 WNT9B WNT7A WNT5A WNT4
11 12 WNT9B WNT7A WNT5A WNT4
12 11.89 WNT9B WNT7A WNT5A WNT4
13
Show member pathways
11.88 WNT9B WNT7A WNT5A WNT4 TBX5 HNF1B
14 11.85 WNT9B WNT7A WNT5A WNT4 DLG1
15 11.82 WNT7A WNT5A WNT4
16 11.71 WNT9B WNT7A WNT5A WNT4 TBX3
17 11.69 WNT7A WNT5A WNT4
18
Show member pathways
11.36 WNT9B WNT7A WNT5A WNT4
19 11.22 WT1 WNT5A TP63 TBX5 PAX2 HNF1B
20 11.05 WNT7A WNT5A
21
Show member pathways
10.91 WNT5A WNT4

GO Terms for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.56 WNT7A WNT5A WNT4 LAMC1
2 Golgi lumen GO:0005796 9.5 WNT7A WNT5A WNT4
3 extracellular matrix GO:0031012 9.46 WNT7A WNT5A WNT4 LAMC1
4 nuclear chromatin GO:0000790 9.17 TP63 TBX5 TBX3 SHOX PAX2 LHX1
5 endocytic vesicle membrane GO:0030666 9.13 WNT7A WNT5A WNT4

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

(show top 50) (show all 78)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.27 WT1 TP63 TBX5 TBX3 SHOX PAX2
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.17 WT1 TP63 TBX5 TBX3 HNF1B DLG1
3 positive regulation of cell proliferation GO:0008284 10.11 WNT7A WNT5A TBX3 PAX2 DLG1
4 negative regulation of apoptotic process GO:0043066 10.07 WT1 WNT7A WNT5A TBX3 PAX2 HNF1B
5 negative regulation of transcription, DNA-templated GO:0045892 10.02 WT1 WNT5A WNT4 TP63 TBX3 PAX2
6 multicellular organism development GO:0007275 10.02 WNT9B WNT7A WNT5A WNT4 TP63 TBX5
7 Wnt signaling pathway GO:0016055 10 WNT9B WNT7A WNT5A WNT4
8 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 WT1 WNT7A WNT5A TP63 TBX5 TBX3
9 animal organ morphogenesis GO:0009887 9.95 TP63 TBX3 LHX1 LAMC1
10 skeletal system development GO:0001501 9.93 TP63 TBX3 SHOX
11 anterior/posterior pattern specification GO:0009952 9.91 WNT5A LHX1 HNF1B
12 male gonad development GO:0008584 9.91 WT1 WNT5A WNT4
13 neuron differentiation GO:0030182 9.91 WNT9B WNT7A WNT5A WNT4 LHX1
14 axonogenesis GO:0007409 9.9 WNT7A WNT5A PAX2
15 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.9 WNT9B WNT7A WNT5A
16 cellular response to retinoic acid GO:0071300 9.88 WNT9B WNT5A PAX2
17 positive regulation of epithelial cell proliferation GO:0050679 9.87 WNT5A PAX2 LAMC1
18 cellular response to transforming growth factor beta stimulus GO:0071560 9.87 WNT7A WNT5A WNT4
19 embryonic digit morphogenesis GO:0042733 9.86 WNT7A WNT5A TBX3
20 canonical Wnt signaling pathway GO:0060070 9.86 WNT9B WNT7A WNT5A WNT4
21 pattern specification process GO:0007389 9.85 TP63 TBX5 LHX1
22 cell fate commitment GO:0045165 9.85 WNT9B WNT7A WNT5A WNT4
23 ureteric bud development GO:0001657 9.83 WT1 LHX1 DLG1
24 kidney development GO:0001822 9.83 WT1 WNT9B WNT4 LHX1 HNF1B
25 endoderm development GO:0007492 9.81 LHX1 LAMC1 HNF1B
26 embryonic hindlimb morphogenesis GO:0035116 9.8 WNT7A TP63 TBX3
27 embryonic limb morphogenesis GO:0030326 9.8 WNT7A WNT5A TP63 TBX5
28 branching morphogenesis of an epithelial tube GO:0048754 9.77 WNT9B WNT4 HNF1B
29 non-canonical Wnt signaling pathway GO:0035567 9.76 WNT7A WNT5A WNT4
30 limb morphogenesis GO:0035108 9.75 WNT5A TBX3
31 cochlea morphogenesis GO:0090103 9.75 WNT5A PAX2
32 cardiac muscle cell differentiation GO:0055007 9.75 TBX5 TBX3
33 negative regulation of fibroblast growth factor receptor signaling pathway GO:0040037 9.75 WNT5A WNT4
34 morphogenesis of an epithelium GO:0002009 9.75 WNT5A TBX5
35 adrenal gland development GO:0030325 9.75 WT1 WNT4
36 male genitalia development GO:0030539 9.75 WT1 WNT9B TBX3
37 sex differentiation GO:0007548 9.74 WNT7A WNT4
38 regulation of postsynapse organization GO:0099175 9.74 WNT7A WNT5A
39 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.74 PAX2 LHX1
40 post-anal tail morphogenesis GO:0036342 9.74 WNT5A TP63
41 anatomical structure formation involved in morphogenesis GO:0048646 9.74 TP63 LHX1
42 establishment of planar polarity GO:0001736 9.74 WNT5A TP63
43 uterus development GO:0060065 9.74 WNT7A WNT5A LHX1
44 urogenital system development GO:0001655 9.73 PAX2 LHX1
45 presynapse assembly GO:0099054 9.73 WNT7A WNT5A
46 secondary palate development GO:0062009 9.73 WNT7A WNT5A
47 forelimb morphogenesis GO:0035136 9.72 TBX5 TBX3
48 primitive streak formation GO:0090009 9.72 WNT5A LHX1
49 vagina development GO:0060068 9.72 WNT5A LHX1
50 midbrain dopaminergic neuron differentiation GO:1904948 9.71 WNT9B WNT5A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.08 WT1 TP63 TBX5 TBX3 SHOX PAX2
2 sequence-specific DNA binding GO:0043565 9.87 WT1 TP63 TBX5 TBX3 SHOX LHX1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.86 WT1 TP63 TBX5 TBX3 SHOX PAX2
4 signaling receptor binding GO:0005102 9.83 WNT9B WNT7A WNT5A WNT4
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.81 TBX5 TBX3 LHX1 HNF1B
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.8 WT1 WNT5A TP63 PAX2
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 WT1 TP63 TBX5 TBX3 SHOX
8 transcription regulatory region DNA binding GO:0044212 9.77 WT1 WNT5A TP63 PAX2 HNF1B
9 cytokine activity GO:0005125 9.73 WNT9B WNT7A WNT5A WNT4
10 proximal promoter sequence-specific DNA binding GO:0000987 9.63 PAX2 LHX1 HNF1B
11 frizzled binding GO:0005109 9.46 WNT9B WNT7A WNT5A WNT4
12 DNA-binding transcription factor activity GO:0003700 9.28 WT1 WNT5A TP63 TBX5 TBX3 SHOX
13 receptor ligand activity GO:0048018 9.26 WNT9B WNT7A WNT5A WNT4

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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