Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH)

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 57 12 20 58 72
Mrkh Syndrome 57 12 73 20 43 58 72
Rokitansky Kuster Hauser Syndrome 43 29 6 70
Rokitansky Syndrome 12 20 43 58
Congenital Absence of Uterus and Vagina 57 20 58
Mullerian Aplasia 20 43 58
Congenital Absence of the Uterus and Vagina 20 43
Mayer-Rokitansky-Küster-Hauser Syndrome 20 43
Genital Renal Ear Syndrome 20 43
Mullerian Dysgenesis 20 43
Mullerian Agenesis 43 36
Mrkh Anomaly 57 72
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 57
Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 58
Congenital Absence of Uterus and Vagina; Cauv 57
Syndrome, Mayer-Rokitansky-Kuster-Hauser 39
Von Mayer-Rokitansky-Kuster Anomaly 57
Rokitansky-Kuster-Hauser Syndrome 72
Aplasia of the Mullerian Ducts 58
Mullerian Aplasia/dysgenesis 57
Mullerian Duct Failure 58
Mrkh Syndrome Type 1 58
Rokitansky Sequence 58
Müllerian Agenesis 20
Rkh Syndrome 72
Mrk Anomaly 57
Mrkh 57
Cauv 57


Orphanet epidemiological data:

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;


57 (Updated 05-Apr-2021)
autosomal dominant


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


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

External Ids:

Disease Ontology 12 DOID:0112177
OMIM® 57 277000
KEGG 36 H00600
MESH via Orphanet 45 C537371
ICD10 via Orphanet 33 Q51.8
UMLS via Orphanet 71 C0431637 C0431648 C1698581
MedGen 41 C1698581
UMLS 70 C1698581

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

GARD : 20 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.

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 GREB1L (GREB1 Like Retinoic Acid Receptor Coactivator), and among its related pathways/superpathways are Wnt signaling pathway and PI3K-Akt signaling pathway. The drugs Tacrolimus and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include uterus, cervix and heart, and related phenotypes are aplasia of the uterus and hypoplasia of the vagina

Disease Ontology : 12 A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype.

MedlinePlus Genetics : 43 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® : 57 Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 in the Mayer-Rokitansky-Kuster-Hauser Syndrome family:

Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1

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

(show top 50) (show all 232)
# Related Disease Score Top Affiliating Genes
1 ureterocele 31.0 PAX2 LHX1
2 mullerian aplasia and hyperandrogenism 30.5 WNT7A WNT5A WNT4
3 disorder of sexual development 30.5 WT1 WNT4 SHOX
4 renal hypoplasia 30.4 WNT9B WNT4 PAX2 LHX1 HNF1B
5 chromosome 17q12 deletion syndrome 30.2 LHX1 HNF1B
6 renal hypodysplasia/aplasia 1 29.6 WT1 WNT9B WNT4 PAX2 LHX1 HNF1B
7 premature menopause 29.3 WT1 WNT4 TP63 GALT
8 cleft palate, isolated 29.0 WNT9B WNT5A TP63 TBX5
9 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.0
10 mayer-rokitansky-kuster-hauser syndrome type 1 11.9
11 partial bilateral aplasia of the mullerian ducts 11.6
12 pseudounicornuate uterus 11.1
13 true unicornuate uterus 11.1
14 amenorrhea 11.1
15 leiomyoma 10.7
16 gonadal dysgenesis 10.7
17 endometriosis 10.7
18 46 xx gonadal dysgenesis 10.7
19 hypogonadism 10.7
20 vagina, absence of 10.7
21 hemometra 10.7
22 uterine anomalies 10.6
23 adenomyosis 10.6
24 myoma 10.6
25 vaginal atresia 10.6
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
27 hydronephrosis 10.6
28 androgen insensitivity syndrome 10.5
29 renal dysplasia 10.5
30 pelvic organ prolapse 10.5
31 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.5
32 thrombocytopenia-absent radius syndrome 10.5
33 polydactyly 10.5
34 urinary tract infection 10.5
35 sensorineural hearing loss 10.5
36 acute cystitis 10.5
37 thrombocytopenia 10.5
38 adenocarcinoma 10.5
39 turner syndrome 10.5
40 pulmonary valve stenosis 10.5
41 end stage renal disease 10.5
42 double uterus-hemivagina-renal agenesis 10.5
43 neurofibromatosis, type i 10.4
44 silver-russell syndrome 1 10.4
45 vater/vacterl association 10.4
46 velocardiofacial syndrome 10.4
47 duodenal atresia 10.4
48 ovarian dysgenesis 1 10.4
49 paine syndrome 10.4
50 gonadal agenesis 10.4

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®:

57 (Updated 05-Apr-2021)
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

Clinical features from OMIM®:

277000 (Updated 05-Apr-2021)

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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.3 DLG1 GREB1L HNF1B LAMC1 LHX1 PAX2
2 endocrine/exocrine gland MP:0005379 10.25 DLG1 GALT GREB1L HNF1B LAMC1 LHX1
3 growth/size/body region MP:0005378 10.22 DLG1 GALT GREB1L HNF1B LAMC1 LHX1
4 mortality/aging MP:0010768 10.2 DLG1 GALT GREB1L HNF1B LAMC1 LHX1
5 cardiovascular system MP:0005385 10.19 GREB1L LAMC1 LHX1 PAX2 TBX3 TBX5
6 cellular MP:0005384 10.18 DLG1 GALT HNF1B LAMC1 LHX1 PAX2
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 9.7 DLG1 GREB1L HNF1B LAMC1 LHX1 PAX2
11 reproductive system MP:0005389 9.44 DLG1 GALT GREB1L LAMC1 LHX1 PAX2

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

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

# Name Status Phase Clinical Trials Cas Number PubChem Id
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643 439492
2 Immunologic Factors Phase 3
3 Immunosuppressive Agents Phase 3
4 Calcineurin Inhibitors Phase 3

Interventional clinical trials:

# 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 Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser Recruiting NCT02967822
5 Feasibility Study of Uterus Transplantation Procedure From a Live Donor Obtaining the Graft by Laparoscopy Recruiting NCT04314869
6 Uterus Transplantation LD - Feasibility Study - Sahlgrenska - Bellevue Medical Centre Recruiting NCT03590405
7 Penn Uterine Transplantation for Uterine Factor Infertility Trial Enrolling by invitation NCT03307356

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:

Uterus, Cervix, Heart, Kidney, Ovary, Colon, Skin

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

(show top 50) (show all 458)
# Title Authors PMID Year
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. 57 61
32378186 2020
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. 61 57
21278390 2011
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. 57 61
19889212 2009
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. 57 61
17359527 2007
WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. 57 61
16959810 2007
The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches. 57 61
16441882 2006
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series. 6
28724436 2017
Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication. 6
28220983 2017
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. 6
22317977 2012
Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome. 57
18001722 2008
Genomic imbalances associated with mullerian aplasia. 57
18039948 2008
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. 57
18182450 2008
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. 57
16691591 2006
Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly. 57
16007613 2005
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. 57
12794695 2003
Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. 57
11115062 2000
Defects of urogenital development in mice lacking Emx2. 57
9165114 1997
Bilateral femoral hypoplasia associated with Rokitansky sequence: another example of a mesodermal malformation spectrum? 57
8116669 1994
Familial occurrence of hereditary renal adysplasia with müllerian anomalies. 57
8462192 1993
Rokitansky sequence in association with the facio-auriculo-vertebral sequence: part of a mesodermal malformation spectrum? 57
2240024 1990
Müllerian aplasia associated with maternal deficiency of galactose-1-phosphate uridyl transferase. 57
3036608 1987
Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA). 57
3591829 1987
The concurrence of facioauriculovertebral spectrum and the Rokitansky syndrome. 57
6742026 1984
Renal--skeletal--ear- and facial-anomalies in combination with the Mayer--Rokitansky--Küster (MRK) syndrome. 57
7173481 1982
Reduction in oocyte number following prenatal exposure to a diet high in galactose. 57
7302587 1981
Hereditary urogenital adysplasia. 57
7449179 1980
Familial renal agenesis and urogenital malformations. Seminal vesicle cyst and vaginal cyst with bicornuate uterus in siblings. 57
419378 1979
Aplasia of the Müllerian system: evidence for probable sex-limited autosomal dominant inheritance. 57
728579 1978
Patterns of anomalies in children with malformed ears. 57
966914 1976
Familial bilateral renal agenesis and hereditary renal adysplasia. 57
4744207 1973
Familial occurrence of congenital absence of the vagina. 57
4635205 1972
[Familial form of Rokitansky-Kuster-Hauser syndrome]. 57
5962876 1966
One hundred cases of congenital absence of the vagina. 57
18104218 1949
The Missing Uterus, the Missed Diagnosis, and the Missing Care. Mayer-Rokitansky-Küster-Hauser Syndrome in the Lives of Women in Malaysia. 61
33189898 2021
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome. 61
33469725 2021
Vaginoplasty: modified McIndoe using xenograft and a tailored 3D-printer mold. 61
33661320 2021
A rare case of multiple leiomyomas on rudimentary uterus in a woman with Mayer Rokitansky Kuster Hauser (MRKH) syndrome: A challenging diagnosis and laparoscopic approach. 61
33714897 2021
XCM Biologic Tissue Matrix xenograft and autologous micromucosa graft for vaginal reconstruction in Mayer-Rokitansky-Küster-Hauser syndrome. 61
33765736 2021
[Uterus transplantation, current prospect and future indications. State of art with review of literature]. 61
32916317 2021
GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome. 61
33548512 2021
Clinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide multicentric study. 61
33745726 2021
Mayer-Rokitansky-Küster-Hauser syndrome with rare findings of inferior crossed-fused renal ectopia and Gartner's duct cyst: a video case report. 61
33069370 2021
Mayer-Rokitansky-Küster-Hauser Syndrome with a Solitary Duplex Kidney and Anal Stenosis: Report of a Rare Case. 61
32561448 2021
New Laparoscopic Vaginoplasty Procedure With a Modified Peritoneal Pull-Down Technique in Four Patients With Mayer-Rokitansky-Küster-Hauser Syndrome. 61
33607276 2021
Effects of different vaginal mould use approaches after vaginoplasty with artificial dermis in patients with Mayer-Rokitansky-Küster-Hauser syndrome. 61
33530790 2021
Laparoscopic lateral suspension to treat neovaginal prolapse in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome: A rare case report. 61
33300272 2021
Myomas in uterine rudiments in a patient with Mayer-Rokitansky-Küster-Hauser syndrome. 61
33752407 2021
Neovagina Creation: A Novel Improved Laparoscopic Vecchietti Procedure in Patients with Mayer-Rokitansky-Küster-Hauster Syndrome. 61
32283327 2021
Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome. 61
33432050 2021
A Case of Mayer-Rokitansky-Küster-Hauser Syndrome Diagnosed in Infancy after Evaluation of Palpable Gonads. 61
32736132 2020

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GREB1L NC_000018.10:g.21490106_21490107CG[1] Microsatellite Pathogenic 917901 GRCh37: 18:19070067-19070068
GRCh38: 18:21490106-21490107
2 GREB1L NM_001142966.2(GREB1L):c.2227del (p.Gln743fs) Deletion Pathogenic 917902 GRCh37: 18:19053036-19053036
GRCh38: 18:21473075-21473075
3 overlap with 11 genes GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207) copy number gain Pathogenic 997061 GRCh37: 1:145818702-147824207
4 GREB1L NM_001142966.2(GREB1L):c.3970-20A>G SNV Likely pathogenic 917904 GRCh37: 18:19080481-19080481
GRCh38: 18:21500520-21500520
5 HNRNPCL1 NM_001013631.2(HNRNPCL1):c.764del (p.Asp255fs) Deletion Uncertain significance 547869 rs767679031 GRCh37: 1:12907379-12907379
GRCh38: 1:12847526-12847526
6 WNT4 NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) SNV Uncertain significance 587509 rs1334778982 GRCh37: 1:22446655-22446655
GRCh38: 1:22120162-22120162
7 GREB1L NM_001142966.2(GREB1L):c.5198A>G (p.Asn1733Ser) SNV Uncertain significance 917903 GRCh37: 18:19096642-19096642
GRCh38: 18:21516681-21516681
8 GREB1L NM_001142966.2(GREB1L):c.2312C>T (p.Pro771Leu) SNV Uncertain significance 917905 GRCh37: 18:19053121-19053121
GRCh38: 18:21473160-21473160
9 GREB1L NM_001142966.2(GREB1L):c.1852G>A (p.Asp618Asn) SNV Uncertain significance 917906 GRCh37: 18:19032046-19032046
GRCh38: 18:21452085-21452085
10 GREB1L NM_001142966.2(GREB1L):c.3983G>A (p.Gly1328Asp) SNV Uncertain significance 917907 GRCh37: 18:19080514-19080514
GRCh38: 18:21500553-21500553
11 GREB1L NM_001142966.2(GREB1L):c.1936T>C (p.Cys646Arg) SNV Uncertain significance 917908 GRCh37: 18:19032130-19032130
GRCh38: 18:21452169-21452169
12 GREB1L NM_001142966.2(GREB1L):c.3492G>T (p.Gly1164=) SNV Uncertain significance 917909 GRCh37: 18:19079790-19079790
GRCh38: 18:21499829-21499829
13 GREB1L NM_001142966.2(GREB1L):c.277G>A (p.Glu93Lys) SNV Uncertain significance 917910 GRCh37: 18:18964286-18964286
GRCh38: 18:21384325-21384325

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

# 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 HNF1B 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:

# 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 19)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
8 12.14 WNT9B WNT7A WNT5A WNT4
Show member pathways
10 12.02 WNT9B WNT7A WNT5A WNT4
12 11.89 WNT9B WNT7A WNT5A WNT4
Show member pathways
14 11.85 WNT9B WNT7A WNT5A WNT4 DLG1
15 11.81 WNT7A WNT5A WNT4
16 11.71 WNT9B WNT7A WNT5A WNT4 TBX3
Show member pathways
18 11.22 WT1 WNT5A TP63 TBX5 PAX2 HNF1B
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 chromatin GO:0000785 9.23 WT1 TP63 TBX5 TBX3 SHOX PAX2
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 72)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.25 WT1 TP63 TBX5 TBX3 SHOX PAX2
2 regulation of transcription by RNA polymerase II GO:0006357 10.24 WT1 TP63 TBX5 TBX3 SHOX PAX2
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.17 WT1 WNT7A WNT5A TP63 TBX5 SHOX
4 positive regulation of cell proliferation GO:0008284 10.11 WNT7A WNT5A TBX3 PAX2 DLG1
5 negative regulation of apoptotic process GO:0043066 10.1 WT1 WNT7A WNT5A TBX3 PAX2
6 negative regulation of transcription, DNA-templated GO:0045892 10.02 WT1 WNT5A WNT4 TP63 TBX3 PAX2
7 multicellular organism development GO:0007275 10 WNT9B WNT7A WNT5A WNT4 TP63 TBX5
8 Wnt signaling pathway GO:0016055 9.99 WNT9B WNT7A WNT5A WNT4
9 animal organ morphogenesis GO:0009887 9.93 TP63 TBX3 LHX1 LAMC1
10 skeletal system development GO:0001501 9.92 TP63 TBX3 SHOX
11 neuron differentiation GO:0030182 9.91 WNT9B WNT7A WNT5A WNT4 LHX1
12 male gonad development GO:0008584 9.9 WT1 WNT5A WNT4
13 axonogenesis GO:0007409 9.89 WNT7A WNT5A PAX2
14 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.89 WNT9B WNT7A WNT5A
15 cellular response to retinoic acid GO:0071300 9.85 WNT9B WNT5A PAX2
16 positive regulation of epithelial cell proliferation GO:0050679 9.85 WNT5A PAX2 LAMC1
17 cellular response to transforming growth factor beta stimulus GO:0071560 9.85 WNT7A WNT5A WNT4
18 cell fate commitment GO:0045165 9.85 WNT9B WNT7A WNT5A WNT4
19 positive regulation of transcription, DNA-templated GO:0045893 9.85 WT1 WNT7A WNT5A WNT4 TP63 TBX5
20 pattern specification process GO:0007389 9.84 TP63 TBX5 LHX1
21 canonical Wnt signaling pathway GO:0060070 9.84 WNT9B WNT7A WNT5A WNT4
22 embryonic digit morphogenesis GO:0042733 9.83 WNT7A WNT5A TBX3
23 ureteric bud development GO:0001657 9.8 WT1 LHX1 DLG1
24 embryonic hindlimb morphogenesis GO:0035116 9.78 WNT7A TP63 TBX3
25 embryonic limb morphogenesis GO:0030326 9.76 WNT7A WNT5A TP63 TBX5
26 sex differentiation GO:0007548 9.75 WNT7A WNT4
27 non-canonical Wnt signaling pathway GO:0035567 9.75 WNT7A WNT5A WNT4
28 limb morphogenesis GO:0035108 9.74 WNT5A TBX3
29 cochlea morphogenesis GO:0090103 9.74 WNT5A PAX2
30 negative regulation of fibroblast growth factor receptor signaling pathway GO:0040037 9.74 WNT5A WNT4
31 morphogenesis of an epithelium GO:0002009 9.74 WNT5A TBX5
32 cardiac muscle cell differentiation GO:0055007 9.74 TBX5 TBX3
33 regulation of postsynapse organization GO:0099175 9.74 WNT7A WNT5A
34 adrenal gland development GO:0030325 9.73 WT1 WNT4
35 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.73 PAX2 LHX1
36 anatomical structure formation involved in morphogenesis GO:0048646 9.73 TP63 LHX1
37 smooth muscle cell differentiation GO:0051145 9.73 WNT4 TBX3
38 post-anal tail morphogenesis GO:0036342 9.73 WNT5A TP63
39 establishment of planar polarity GO:0001736 9.73 WNT5A TP63
40 male genitalia development GO:0030539 9.73 WT1 WNT9B TBX3
41 urogenital system development GO:0001655 9.72 PAX2 LHX1
42 presynapse assembly GO:0099054 9.72 WNT7A WNT5A
43 secondary palate development GO:0062009 9.72 WNT7A WNT5A
44 kidney morphogenesis GO:0060993 9.71 WNT9B WNT4
45 vagina development GO:0060068 9.71 WNT5A LHX1
46 genitalia development GO:0048806 9.7 WNT5A HNF1B
47 forelimb morphogenesis GO:0035136 9.7 TBX5 TBX3
48 midbrain dopaminergic neuron differentiation GO:1904948 9.7 WNT9B WNT5A
49 uterus development GO:0060065 9.7 WNT7A WNT5A LHX1
50 primitive streak formation GO:0090009 9.69 WNT5A LHX1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.03 WT1 TP63 TBX5 TBX3 SHOX PAX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.93 WT1 TP63 TBX5 TBX3 PAX2 HNF1B
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.92 WT1 TP63 TBX5 TBX3 SHOX PAX2
4 signaling receptor binding GO:0005102 9.78 WNT9B WNT7A WNT5A WNT4
5 sequence-specific DNA binding GO:0043565 9.73 WT1 TP63 TBX5 TBX3 SHOX HNF1B
6 DNA-binding transcription factor activity GO:0003700 9.7 WT1 TP63 TBX5 TBX3 PAX2 LHX1
7 cytokine activity GO:0005125 9.67 WNT9B WNT7A WNT5A WNT4
8 proximal promoter sequence-specific DNA binding GO:0000987 9.58 PAX2 LHX1 HNF1B
9 receptor ligand activity GO:0048018 9.26 WNT9B WNT7A WNT5A WNT4
10 frizzled binding GO:0005109 8.92 WNT9B WNT7A WNT5A WNT4

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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