RKH SYNDROME
MCID: MYR002
MIFTS: 61

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

Categories: Ear diseases, 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 75
Mrkh Syndrome 57 76 25 59 75
Rokitansky Kuster Hauser Syndrome 25 29 6 73
Congenital Absence of Uterus and Vagina 57 59
Mayer-Rokitansky-Küster-Hauser Syndrome 25 59
Rokitansky Syndrome 25 59
Mullerian Agenesis 25 37
Mrkh Anomaly 57 75
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 57
Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 59
Congenital Absence of Uterus and Vagina; Cauv 57
Congenital Absence of the Uterus and Vagina 25
Von Mayer-Rokitansky-Kuster Anomaly 57
Rokitansky-Kuster-Hauser Syndrome 75
Mullerian Aplasia/dysgenesis 57
Genital Renal Ear Syndrome 25
Mullerian Dysgenesis 25
Mrkh Syndrome Type 1 59
Rokitansky Sequence 59
Mullerian Aplasia 25
Rkh Syndrome 75
Mrk Anomaly 57
Cauv 57

Characteristics:

Orphanet epidemiological data:

59
mayer-rokitansky-küster-hauser syndrome type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy;
mayer-rokitansky-küster-hauser syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mayer-rokitansky-kuster-hauser syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 277000
UMLS via Orphanet 74 C0431648 C1698581
ICD10 via Orphanet 34 Q51.8
MedGen 42 C1698581
KEGG 37 H00600
UMLS 73 C1698581

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

OMIM : 57 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)

MalaCards based summary : Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to murcs association and hypoplastic thumb mullerian aplasia. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is LHX1 (LIM Homeobox 1), 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, ovary and cervix, and related phenotypes are ectopic kidney and abnormal form of the vertebral bodies

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.

UniProtKB/Swiss-Prot : 75 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 : 76 Müllerian agenesis, also known as Mayer�??Rokitansky�??Küster�??Hauser syndrome (MRKH) or vaginal... 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 63)
# Related Disease Score Top Affiliating Genes
1 murcs association 30.6 TBX3 TBX5 TP63 WNT4
2 hypoplastic thumb mullerian aplasia 12.5
3 rokitansky sequence 12.4
4 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.1
5 michels caskey syndrome 12.0
6 mullerian aplasia 11.8
7 gonadal dysgenesis 10.9
8 leiomyoma 10.8
9 endometriosis 10.8
10 adenomyosis 10.7
11 46 xx gonadal dysgenesis 10.7
12 alopecia 10.6
13 polycystic ovary syndrome 10.6
14 scoliosis 10.6
15 infertility 10.6
16 mullerian aplasia and hyperandrogenism 10.5
17 neurofibromatosis, type i 10.5
18 silver-russell syndrome 10.5
19 vater/vacterl association 10.5
20 ovarian dysgenesis 1 10.5
21 androgen insensitivity syndrome 10.5
22 gonadal agenesis 10.5
23 hyperprolactinemia 10.5
24 chronic kidney failure 10.5
25 vaginal cancer 10.5
26 von willebrand's disease 10.5
27 amenorrhea 10.5
28 vacterl association 10.5
29 endodermal sinus tumor 10.5
30 teratoma 10.5
31 duodenal obstruction 10.5
32 kidney disease 10.5
33 situs inversus 10.5
34 complete androgen insensitivity syndrome 10.5
35 dextrocardia with situs inversus 10.5
36 fibromatosis 10.5
37 pulmonary venous return anomaly 10.5
38 holt-oram syndrome 10.3
39 meckel syndrome, type 1 10.3
40 vaginal atresia 10.1
41 anus, imperforate 10.1
42 thrombocytopenia-absent radius syndrome 10.1
43 thrombocytopenia 10.1
44 cystic fibrosis 10.1
45 oligomeganephronia 10.1 HNF1B PAX2
46 acheiropody 10.1 TBX3 TBX5
47 ulnar-mammary syndrome 10.0 TBX3 TBX5
48 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.0 PAX2 WT1
49 split-hand/foot malformation 2 10.0 PAX2 TP63
50 kidney benign neoplasm 10.0 PAX2 WT1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
2 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
3 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
4 vertebral fusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002948
5 unilateral renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000122
6 aplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000151
7 hypoplasia of the vagina 59 32 hallmark (90%) Very frequent (99-80%) HP:0008726
8 abnormality of the kidney 59 Frequent (79-30%)
9 vertebral segmentation defect 59 Occasional (29-5%)
10 abnormality of the sacrum 59 Occasional (29-5%)
11 hypoplasia of the uterus 32 HP:0000013
12 amenorrhea 32 HP:0000141
13 aplasia of the vagina 32 HP:0003250
14 abnormal sacrum morphology 32 occasional (7.5%) HP:0005107

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

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.92 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.92 TBX3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.92 TBX5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.92 TBX5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.92 SHOX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.92 WT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.92 SHOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.92 SHOX
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.92 SHOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.92 WT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.92 HNF1B
12 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.92 TBX3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.92 TBX5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.92 SHOX
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.92 SHOX
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.92 HNF1B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.92 HNF1B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.92 TBX3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.92 TBX3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.92 TBX5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.92 HNF1B SHOX TBX3 TBX5 WT1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.92 WT1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.92 SHOX
24 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.92 WT1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.92 WT1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.92 HNF1B WT1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.92 WT1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.92 HNF1B
29 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.92 HNF1B
30 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.92 TBX5
31 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.92 TBX5
32 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.92 HNF1B
33 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.92 HNF1B
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.92 WT1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.92 TBX3
36 Decreased viability in esophageal squamous lineage GR00235-A 9.61 DLG1 HNF1B LHX1 SHOX TBX3 TBX5

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

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.29 DLG1 HNF1B LAMC1 LHX1 PAX2 TBX3
2 endocrine/exocrine gland MP:0005379 10.23 DLG1 GALT HNF1B LAMC1 LHX1 PAX2
3 growth/size/body region MP:0005378 10.21 DLG1 GALT HNF1B LAMC1 LHX1 TBX3
4 mortality/aging MP:0010768 10.17 DLG1 GALT HNF1B LAMC1 LHX1 PAX2
5 cardiovascular system MP:0005385 10.16 LAMC1 LHX1 PAX2 TBX3 TBX5 TP63
6 cellular MP:0005384 10.15 DLG1 GALT LAMC1 LHX1 PAX2 TP63
7 homeostasis/metabolism MP:0005376 10.1 DLG1 GALT HNF1B LAMC1 LHX1 TBX3
8 limbs/digits/tail MP:0005371 9.91 DLG1 TBX3 TBX5 TP63 WNT4 WNT5A
9 muscle MP:0005369 9.86 DLG1 HNF1B LAMC1 TBX3 TBX5 TP63
10 normal MP:0002873 9.81 LAMC1 LHX1 TBX3 TBX5 TP63 WNT4
11 renal/urinary system MP:0005367 9.65 DLG1 HNF1B LAMC1 LHX1 PAX2 TP63
12 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 3 104987-11-3 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 Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome Recruiting NCT02967822
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 Not Applicable
4 Uterus Transplantation From a Multi-organ Donor Recruiting NCT03252795 Not Applicable
5 Uterus Transplantation LD - Feasibility Study - Sahlgrenska - BMC Recruiting NCT03590405 Not Applicable
6 Penn Uterine Transplantation for Uterine Factor Infertility Trial Recruiting NCT03307356 Not Applicable
7 Uterus Transplantation From Deceased Donor - Gothenburg III Enrolling by invitation NCT03581019 Not Applicable

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:

41
Uterus, Ovary, Cervix, Kidney, Breast, Lung, Colon

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

(show top 50) (show all 162)
# Title Authors Year
1
Mayer-Rokitansky-Kuster-Hauser Syndrome: A Unique Case Presentation. ( 29415121 )
2018
2
Living with permanent infertility: A German study on attitudes toward motherhood in individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS). ( 30362901 )
2018
3
Intensive vaginal dilation using adjuvant treatments in women with Mayer-Rokitansky-Kuster-Hauser syndrome: retrospective cohort study. ( 28960241 )
2018
4
Sexual response in women with Mayer-Rokitansky-Küster-Hauser syndrome with a nonsurgical neovagina. ( 30017684 )
2018
5
Surgery is not superior to dilation for the management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome: a multicenter comparative observational study in 131 patients. ( 30036500 )
2018
6
Multiorgan system structural malformations associated with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) type 2: avoiding pitfalls in diagnosis, counseling and treatment. ( 30065057 )
2018
7
Spectrum of Type I and Type II syndromes and associated malformations in Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: A retrospective analysis of 274 cases. ( 30114439 )
2018
8
Treatment of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome in Denmark: a nationwide comparative study of anatomical outcome and complications. ( 30196972 )
2018
9
Treatment of the Mayer-Rokitansky-Küster-Hauser syndrome with autologous in vitro cultured vaginal tissue: descriptive study of long-term results and patient outcomes. ( 30230668 )
2018
10
Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome. ( 30302266 )
2018
11
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches. ( 30504698 )
2018
12
Diagnosis and Management of Ovarian Tumor in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome. ( 29721502 )
2018
13
A rare case of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome with solitary ectopic pelvic kidney and uretropelvic junction (UPJ) obstruction. ( 30294548 )
2018
14
Genetics of Mayer-Rokitansky-KA1ster-Hauser (MRKH) syndrome. ( 27716927 )
2017
15
Spectrum of MRI Appearance of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome in Primary Amenorrhea Patients. ( 28893003 )
2017
16
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families. ( 28600106 )
2017
17
Evaluation of amnion in creation of neovagina in women with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28624115 )
2017
18
Mayer-Rokitansky-Kuster-Hauser syndrome associated with rectovestibular fistula. ( 28913139 )
2017
19
A modified neo-vagina procedure in a low resource urogynecological unit: a case report of a 21 year old with Mayer-Rokitansky-Küster-Hauser (mrkh) Syndrome operated at Mbarara referral hospital, Southwestern Uganda. ( 28851338 )
2017
20
A rare case of adult ovarian hernia in MRKH syndrome. ( 30363252 )
2017
21
A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis. ( 27190929 )
2016
22
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3. ( 27478502 )
2016
23
Rare Case of Leiomyoma and Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27843659 )
2016
24
An unusual cause of urinary incontinence: Urethral coitus in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 27617320 )
2016
25
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
26
Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome. ( 27241658 )
2016
27
Intra-peritoneal leiomyoma of the round ligament in a patient with Mayer-Rokitansky-KA1ster-Hauser (MRKH) syndrome. ( 28210483 )
2016
28
Laparoscopic Davydov Procedure for the Creation of a Neovagina in Patients with Mayer-Rokitansky-Kuster-Hauser Syndrome: Analysis of 7 Cases. ( 27344998 )
2016
29
Robotic Sigmoid Vaginoplasty in an Adolescent Girl With Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27093154 )
2016
30
Long-Term Outcomes of Laparoscopic Bean Vaginoplasty (Modified Vecchietti Procedure) for Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27120395 )
2016
31
Epigenetic modifications of primordial reproductive tract: A common etiologic pathway for Mayer-Rokitansky-Kuster-Hauser Syndrome and endometriosis? ( 27063075 )
2016
32
Mayer-Rokitansky-Küster-Hauser Syndrome with Alopecia: A Rare Case Report with Review of Literature. ( 27625567 )
2016
33
Mayer-Rokitansky-Kuster-Hauser syndrome accompanied by invasive ductal carcinoma: a case report. ( 29787025 )
2016
34
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with unilateral pulmonary agenesis-a rarity indeed: radiologic review. ( 30363603 )
2016
35
Laparoscopic Modified Vecchietti Technique for Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: Report of Two Cases. ( 27042794 )
2016
36
A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas in hypoplastic uterus. ( 26752861 )
2015
37
Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas. ( 25468053 )
2015
38
Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence. ( 26454229 )
2015
39
Mayer-Rokitansky-Kuster-Hauser syndrome: a review. ( 26586965 )
2015
40
Leiomyoma Arising from Mullerian Remnant, Mimicking Ovarian Tumor in a Woman with MRKH Syndrome and Unilateral Renal Agenesis. ( 26949305 )
2015
41
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a historical perspective. ( 25260227 )
2015
42
Creation of a neovagina in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and previously corrected rectovestibular fistula concomitant with imperforate anus. ( 25444054 )
2015
43
Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins - a case report and implications for reproduction in MRKH women. ( 26291808 )
2015
44
Vaginal Dilation in Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome. ( 27678567 )
2015
45
Colovaginoplasty in a case of mayer-rokitansky-kuster-hauser syndrome. ( 24834388 )
2014
46
Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. ( 24948340 )
2014
47
And god created woman? The link between female sexuality and the mother-daughter relationship in Mayer-Rokitansky-Kuster-Hauser syndrome in adolescents. ( 24552429 )
2014
48
Importance of Laparoscopic Assessment of the Uterine Adnexa in a Mayer-Rokitansky-Kuster-Hauser Syndrome Type II Case. ( 25729598 )
2014
49
Mayer-rokitansky-kuster-hauser syndrome associated with severe inferior vena cava stenosis. ( 25136466 )
2014
50
Characterization of human vaginal mucosa cells for autologous in vitro cultured vaginal tissue transplantation in patients with MRKH syndrome. ( 25162002 )
2014

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HNRNPCL1 NM_001013631.2(HNRNPCL1): c.764del (p.Asp255Valfs) deletion Uncertain significance GRCh37 Chromosome 1, 12907379: 12907379
2 HNRNPCL1 NM_001013631.2(HNRNPCL1): c.764del (p.Asp255Valfs) deletion Uncertain significance GRCh38 Chromosome 1, 12847526: 12847526

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

7
# CNVD ID Chromosom 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:

37
# 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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 DLG1 LAMC1 WNT4 WNT5A WNT7A WNT9B
2 12.69 LAMC1 WNT4 WNT5A WNT7A WNT9B
3
Show member pathways
12.58 WNT4 WNT5A WNT7A WNT9B
4
Show member pathways
12.41 WNT4 WNT5A WNT7A WNT9B
5
Show member pathways
12.37 HNF1B LAMC1 LHX1 TBX3
6
Show member pathways
12.35 WNT4 WNT5A WNT7A WNT9B
7
Show member pathways
12.28 WNT4 WNT5A WNT7A WNT9B
8 12.23 HNF1B WNT4 WNT5A WNT7A WNT9B
9 12.21 DLG1 WNT4 WNT5A WNT7A WNT9B
10
Show member pathways
12.17 DLG1 WNT4 WNT5A WNT7A WNT9B
11 12.15 WNT4 WNT5A WNT7A WNT9B
12 12.05 WNT4 WNT5A WNT7A WNT9B
13
Show member pathways
12 WNT4 WNT5A WNT7A WNT9B
14
Show member pathways
11.96 WNT4 WNT5A WNT7A WNT9B
15 11.93 WNT4 WNT5A WNT7A WNT9B
16
Show member pathways
11.88 HNF1B TBX5 WNT4 WNT5A WNT7A WNT9B
17 11.84 WNT4 WNT5A WNT7A
18 11.84 DLG1 WNT4 WNT5A WNT7A WNT9B
19
Show member pathways
11.78 HNF1B WNT4 WNT5A WNT7A WNT9B
20 11.7 TBX3 WNT4 WNT5A WNT7A WNT9B
21 11.51 WNT4 WNT5A WNT7A
22
Show member pathways
11.36 WNT4 WNT5A WNT7A WNT9B
23 11.22 HNF1B PAX2 TBX5 TP63 WNT5A WT1
24 11.07 WNT5A WNT7A
25
Show member pathways
10.93 WNT4 WNT5A

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 extracellular matrix GO:0031012 9.46 LAMC1 WNT4 WNT5A WNT7A
2 Golgi lumen GO:0005796 9.43 WNT4 WNT5A WNT7A
3 endoplasmic reticulum lumen GO:0005788 9.26 LAMC1 WNT4 WNT5A WNT7A
4 endocytic vesicle membrane GO:0030666 8.8 WNT4 WNT5A WNT7A

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

(show top 50) (show all 82)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.99 WNT4 WNT5A WNT7A WNT9B
2 negative regulation of transcription, DNA-templated GO:0045892 9.98 LHX1 PAX2 TBX3 TP63 WNT4 WNT5A
3 multicellular organism development GO:0007275 9.96 LHX1 PAX2 SHOX TBX3 TBX5 TP63
4 skeletal system development GO:0001501 9.93 SHOX TBX3 TP63
5 neuron differentiation GO:0030182 9.93 WNT4 WNT5A WNT7A WNT9B
6 animal organ morphogenesis GO:0009887 9.91 LHX1 TBX3 TP63
7 anterior/posterior pattern specification GO:0009952 9.9 HNF1B LHX1 WNT5A
8 male gonad development GO:0008584 9.9 WNT4 WNT5A WT1
9 axonogenesis GO:0007409 9.9 PAX2 WNT5A WNT7A
10 cellular response to retinoic acid GO:0071300 9.88 PAX2 WNT5A WNT9B
11 pattern specification process GO:0007389 9.87 LHX1 TBX5 TP63
12 positive regulation of epithelial cell proliferation GO:0050679 9.87 LAMC1 PAX2 WNT5A
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.86 WNT4 WNT5A WNT7A
14 embryonic digit morphogenesis GO:0042733 9.85 TBX3 WNT5A WNT7A
15 canonical Wnt signaling pathway GO:0060070 9.85 WNT4 WNT5A WNT7A WNT9B
16 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.83 WNT5A WNT7A WNT9B
17 ureteric bud development GO:0001657 9.82 DLG1 LHX1 WT1
18 cell fate commitment GO:0045165 9.8 WNT4 WNT5A WNT7A WNT9B
19 embryonic limb morphogenesis GO:0030326 9.78 TBX5 TP63 WNT5A WNT7A
20 embryonic hindlimb morphogenesis GO:0035116 9.77 TBX3 TP63 WNT7A
21 kidney development GO:0001822 9.77 HNF1B LHX1 WNT4 WNT9B WT1
22 endoderm development GO:0007492 9.76 HNF1B LAMC1
23 cell aging GO:0007569 9.76 TBX3 TP63
24 branching morphogenesis of an epithelial tube GO:0048754 9.76 HNF1B WNT4 WNT9B
25 cardiac muscle cell differentiation GO:0055007 9.75 TBX3 TBX5
26 cochlea morphogenesis GO:0090103 9.75 PAX2 WNT5A
27 anatomical structure formation involved in morphogenesis GO:0048646 9.75 LHX1 TP63
28 limb morphogenesis GO:0035108 9.75 TBX3 WNT5A
29 sex differentiation GO:0007548 9.75 WNT4 WNT7A
30 non-canonical Wnt signaling pathway GO:0035567 9.75 WNT4 WNT5A WNT7A
31 adrenal gland development GO:0030325 9.74 WNT4 WT1
32 morphogenesis of an epithelium GO:0002009 9.74 TBX5 WNT5A
33 negative regulation of fibroblast growth factor receptor signaling pathway GO:0040037 9.74 WNT4 WNT5A
34 regulation of postsynapse organization GO:0099175 9.74 WNT5A WNT7A
35 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.74 LHX1 PAX2
36 post-anal tail morphogenesis GO:0036342 9.74 TP63 WNT5A
37 male genitalia development GO:0030539 9.74 TBX3 WNT9B WT1
38 urogenital system development GO:0001655 9.73 LHX1 PAX2
39 establishment of planar polarity GO:0001736 9.73 TP63 WNT5A
40 presynapse assembly GO:0099054 9.73 WNT5A WNT7A
41 secondary palate development GO:0062009 9.73 WNT5A WNT7A
42 uterus development GO:0060065 9.73 LHX1 WNT5A WNT7A
43 forelimb morphogenesis GO:0035136 9.72 TBX3 TBX5
44 primitive streak formation GO:0090009 9.72 LHX1 WNT5A
45 vagina development GO:0060068 9.71 LHX1 WNT5A
46 epithelium development GO:0060429 9.71 HNF1B LHX1
47 midbrain dopaminergic neuron differentiation GO:1904948 9.71 WNT5A WNT9B
48 metanephric mesenchyme development GO:0072075 9.7 PAX2 WT1
49 anterior/posterior axis specification, embryo GO:0008595 9.7 TBX3 WNT5A
50 kidney morphogenesis GO:0060993 9.7 HNF1B WNT4 WNT9B

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 transcription factor activity, RNA polymerase II-specific GO:0000981 9.97 HNF1B LHX1 PAX2 SHOX TBX3 TBX5
2 sequence-specific DNA binding GO:0043565 9.8 HNF1B LHX1 SHOX TBX3 TBX5 TP63
3 DNA-binding transcription factor activity GO:0003700 9.76 HNF1B LHX1 SHOX TBX3 TBX5 TP63
4 signaling receptor binding GO:0005102 9.73 WNT4 WNT5A WNT7A WNT9B
5 transcription regulatory region DNA binding GO:0044212 9.72 HNF1B PAX2 TP63 WNT5A WT1
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.63 SHOX TBX5 WT1
7 frizzled binding GO:0005109 9.26 WNT4 WNT5A WNT7A WNT9B
8 receptor ligand activity GO:0048018 8.92 WNT4 WNT5A WNT7A WNT9B
9 DNA binding GO:0003677 10.01 HNF1B LHX1 PAX2 SHOX TBX3 TBX5

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....