MCID: MYR002
MIFTS: 59

Mayer-Rokitansky-Kuster-Hauser Syndrome

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

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

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

Name: Mayer-Rokitansky-Kuster-Hauser Syndrome 53 71 24 55
Mrkh Syndrome 53 72 24 55 71
Rokitansky Kuster Hauser Syndrome 24 28 69
Congenital Absence of Uterus and Vagina 53 55
Rokitansky Syndrome 24 55
Mrkh Anomaly 53 71
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 53
Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 55
Congenital Absence of Uterus and Vagina; Cauv 53
Congenital Absence of the Uterus and Vagina 24
Von Mayer-Rokitansky-Kuster Anomaly 53
Rokitansky-Kuster-Hauser Syndrome 71
Mullerian Aplasia/dysgenesis 53
Genital Renal Ear Syndrome 24
Mullerian Dysgenesis 24
Mrkh Syndrome Type 1 55
Rokitansky Sequence 55
Mullerian Agenesis 24
Mullerian Aplasia 24
Rkh Syndrome 71
Mrk Anomaly 53
Cauv 53

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 53 277000
UMLS via Orphanet 70 C0431648 C1698581
ICD10 via Orphanet 33 Q51.8
MedGen 39 C1698581
UMLS 69 C1698581

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

OMIM : 53 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 rokitansky sequence, and has symptoms including ectopic kidney, abnormal form of the vertebral bodies and horseshoe kidney. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is LHX1 (LIM Homeobox 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Tacrolimus and Calcineurin Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include uterus, cervix and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 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 : 72 Müllerian agenesis, also known as Mayer–Rokitansky–Küster–Hauser syndrome or vaginal agenesis, is a... 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 all 46)
# Related Disease Score Top Affiliating Genes
1 murcs association 30.1 TBX3 TBX5 TP63 WNT4
2 rokitansky sequence 12.3
3 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.9
4 mullerian aplasia 11.6
5 vaginitis 10.8
6 leiomyoma 10.7
7 gonadal dysgenesis 10.7
8 endometriosis 10.6
9 blood group, i system 10.5
10 adenomyosis 10.5
11 episodic pain syndrome, familial, 1 10.5
12 mullerian aplasia and hyperandrogenism 10.4
13 neurofibromatosis, type i 10.4
14 neurofibromatosis, type iv, of riccardi 10.4
15 silver-russell syndrome 10.4
16 vater/vacterl association 10.4
17 androgen insensitivity syndrome 10.4
18 aging 10.4
19 gonadal agenesis 10.4
20 hyperprolactinemia 10.4
21 chronic kidney failure 10.4
22 vaginal cancer 10.4
23 esophagitis 10.4
24 von willebrand's disease 10.4
25 urethritis 10.4
26 amenorrhea 10.4
27 vacterl association 10.4
28 endodermal sinus tumor 10.4
29 endometriosis of uterus 10.4
30 teratoma 10.4
31 duodenal obstruction 10.4
32 kidney disease 10.4
33 situs inversus 10.4
34 peritonitis 10.4
35 duodenitis 10.4
36 complete androgen insensitivity syndrome 10.4
37 fibromatosis 10.4
38 exstrophy of bladder 10.2 TP63 WNT9B
39 acheiropody 10.1 TBX3 TBX5
40 thrombocytopenia-absent radius syndrome 9.9
41 thrombocytopenia 9.9
42 ulnar-mammary syndrome 9.9 TBX3 TBX5
43 renal adenoma 9.6 PAX2 WT1
44 focal segmental glomerulosclerosis 1 9.5 PAX2 WT1
45 split-hand/foot malformation 2 9.5 PAX2 TP63
46 diffuse mesangial sclerosis 9.3 LAMC1 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:

53
GenitourinaryExternalGenitaliaFemale:
normal external genitalia

EndocrineFeatures:
amenorrhea, primary
normal female secondary sexual characteristics

GenitourinaryInternalGenitaliaFemale:
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:

55 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectopic kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000086
2 abnormal form of the vertebral bodies 55 31 occasional (7.5%) Occasional (29-5%) HP:0003312
3 horseshoe kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000085
4 vertebral fusion 55 31 occasional (7.5%) Occasional (29-5%) HP:0002948
5 abnormality of the sacrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0005107
6 unilateral renal agenesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000122
7 aplasia of the uterus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000151
8 hypoplasia of the vagina 55 31 hallmark (90%) Very frequent (99-80%) HP:0008726
9 abnormality of the kidney 55 Frequent (79-30%)
10 vertebral segmentation defect 55 Occasional (29-5%)
11 hypoplasia of the uterus 31 HP:0000013
12 amenorrhea 31 HP:0000141
13 aplasia of the vagina 31 HP:0003250

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

25 (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 TBX3 TBX5 HNF1B WT1 SHOX
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:

43 (show all 11)
# 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 10.2 DLG1 HNF1B LAMC1 LHX1 PAX2 TBX3
3 growth/size/body region MP:0005378 10.17 LAMC1 LHX1 TBX3 TBX5 TP63 WNT4
4 cardiovascular system MP:0005385 10.15 LAMC1 LHX1 PAX2 TBX3 TBX5 TP63
5 mortality/aging MP:0010768 10.13 LHX1 PAX2 TBX3 TBX5 TP63 WNT4
6 homeostasis/metabolism MP:0005376 10.1 LHX1 TBX3 TBX5 TP63 WNT5A WT1
7 limbs/digits/tail MP:0005371 9.91 DLG1 TBX3 TBX5 TP63 WNT4 WNT5A
8 normal MP:0002873 9.81 LAMC1 LHX1 TBX3 TBX5 TP63 WNT4
9 muscle MP:0005369 9.8 DLG1 HNF1B LAMC1 TBX3 TBX5 TP63
10 renal/urinary system MP:0005367 9.65 WNT5A WNT9B WT1 DLG1 HNF1B LAMC1
11 reproductive system MP:0005389 9.36 DLG1 LAMC1 LHX1 PAX2 TBX3 TP63

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 Calcineurin Inhibitors Phase 3
3 Immunosuppressive Agents 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 Uterus Transplantation From a Multi-organ Donor Recruiting NCT03252795
4 Penn Uterine Transplantation for Uterine Factor Infertility Trial Recruiting 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 28

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

38
Uterus, Cervix, Kidney, Ovary, Lung, Colon

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

(show top 50) (show all 117)
# Title Authors Year
1
Intensive vaginal dilation using adjuvant treatments in women with Mayer-Rokitansky-Kuster-Hauser syndrome: retrospective cohort study. ( 28960241 )
2018
2
Mayer-Rokitansky-Kuster-Hauser Syndrome: A Unique Case Presentation. ( 29415121 )
2018
3
Mayer-Rokitansky-Kuster-Hauser syndrome associated with rectovestibular fistula. ( 28913139 )
2017
4
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families. ( 28600106 )
2017
5
Evaluation of amnion in creation of neovagina in women with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28624115 )
2017
6
Genetics of Mayer-Rokitansky-KA1ster-Hauser (MRKH) syndrome. ( 27716927 )
2017
7
Spectrum of MRI Appearance of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome in Primary Amenorrhea Patients. ( 28893003 )
2017
8
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
9
Robotic Sigmoid Vaginoplasty in an Adolescent Girl With Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27093154 )
2016
10
Epigenetic modifications of primordial reproductive tract: A common etiologic pathway for Mayer-Rokitansky-Kuster-Hauser Syndrome and endometriosis? ( 27063075 )
2016
11
An unusual cause of urinary incontinence: Urethral coitus in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 27617320 )
2016
12
Long-Term Outcomes of Laparoscopic Bean Vaginoplasty (Modified Vecchietti Procedure) for Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27120395 )
2016
13
Laparoscopic Davydov Procedure for the Creation of a Neovagina in Patients with Mayer-Rokitansky-Kuster-Hauser Syndrome: Analysis of 7 Cases. ( 27344998 )
2016
14
A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis. ( 27190929 )
2016
15
Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome. ( 27241658 )
2016
16
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
17
Rare Case of Leiomyoma and Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27843659 )
2016
18
Mayer-Rokitansky-Kuster-Hauser syndrome: a review. ( 26586965 )
2015
19
Creation of a Neovagina in a Patient with Mayer-Rokitansky-KA1ster-Hauser (MRKH) Syndrome and Previously Corrected Rectovestibular Fistula Concomitant with Imperforate Anus. ( 25444054 )
2015
20
A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas in hypoplastic uterus. ( 26752861 )
2015
21
Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas. ( 25468053 )
2015
22
Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence. ( 26454229 )
2015
23
Mayer-rokitansky-kuster-hauser syndrome associated with severe inferior vena cava stenosis. ( 25136466 )
2014
24
Colovaginoplasty in a case of mayer-rokitansky-kuster-hauser syndrome. ( 24834388 )
2014
25
Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. ( 24948340 )
2014
26
And god created woman? The link between female sexuality and the mother-daughter relationship in Mayer-Rokitansky-Kuster-Hauser syndrome in adolescents. ( 24552429 )
2014
27
An unusual cause of duodenal obstruction: mesenteric fibromatosis in a patient with type I Mayer-Rokitansky-Kuster-Hauser syndrome. ( 24918139 )
2014
28
Importance of Laparoscopic Assessment of the Uterine Adnexa in a Mayer-Rokitansky-Kuster-Hauser Syndrome Type II Case. ( 25729598 )
2014
29
Uterine adenomyosis which developed from hypoplastic uterus in postmenopausal woman with mayer-rokitansky-kuster-hauser syndrome: a case report. ( 25371879 )
2013
30
Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature. ( 23869310 )
2013
31
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. ( 23167253 )
2013
32
Large leiomyoma in a woman with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 23705045 )
2013
33
Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case. ( 23901207 )
2013
34
MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 23271504 )
2013
35
Laparoscopic Davydov correction of a failed gracilis flap neovagina in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome with a pelvic kidney. ( 23465266 )
2013
36
Mayer-Rokitansky-Kuster-Hauser syndrome: diagnosis with MR imaging. ( 23942608 )
2013
37
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature. ( 24251185 )
2013
38
Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. ( 23431465 )
2013
39
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. ( 22740494 )
2012
40
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. ( 22377151 )
2012
41
Role of estrogen receptor alpha on vaginal epithelialization of patients with Mayer-Rokitansky-Kuster-Hauser syndrome submitted to neovaginoplasty using oxidized regenerated cellulose. ( 22249275 )
2012
42
Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging. Role of imaging to identify and evaluate the uncommon variation in development of the female genital tract. ( 22690292 )
2012
43
Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 22052385 )
2012
44
Impact of human papillomavirus infection on the neovaginal and vulval tissues of women who underwent surgical treatment for Mayer-Rokitansky-Kuster-Hauser syndrome. ( 21820652 )
2011
45
In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype. ( 21144508 )
2011
46
Laparoscopic evaluation of pelvic pain with Surgicel vaginoplasty in a woman with Mayer Rokitansky Kuster Hauser syndrome. ( 20728979 )
2011
47
Diagnosis of a variant of Mayer-Rokitansky-Kuster-Hauser syndrome: useful MRI findings. ( 21717137 )
2011
48
Presurgical management of dysmenorrhea and endometriosis in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 21718988 )
2011
49
Mayer-Rokitansky-KA1ester-Hauser (MRKH) syndrome with rectovestibular fistula and imperforate anus. ( 20656398 )
2010
50
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. ( 20847698 )
2010

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

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 GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 DLG1 LAMC1 WNT4 WNT5A WNT7A WNT9B
2 12.68 LAMC1 WNT4 WNT5A WNT7A WNT9B
3
Show member pathways
12.58 WNT4 WNT5A WNT7A WNT9B
4
Show member pathways
12.39 WNT4 WNT5A WNT7A WNT9B
5
Show member pathways
12.36 HNF1B LAMC1 LHX1 TBX3
6
Show member pathways
12.33 WNT4 WNT5A WNT7A WNT9B
7 12.23 HNF1B WNT4 WNT5A WNT7A WNT9B
8
Show member pathways
12.21 WNT4 WNT5A WNT7A WNT9B
9 12.21 DLG1 WNT4 WNT5A WNT7A WNT9B
10
Show member pathways
12.17 DLG1 WNT4 WNT5A WNT7A WNT9B
11 12.14 WNT4 WNT5A WNT7A WNT9B
12
Show member pathways
12.06 WNT4 WNT5A WNT7A WNT9B
13 12.03 WNT4 WNT5A WNT7A WNT9B
14
Show member pathways
11.94 WNT4 WNT5A WNT7A WNT9B
15 11.91 WNT4 WNT5A WNT7A WNT9B
16
Show member pathways
11.88 HNF1B TBX5 WNT4 WNT5A WNT7A WNT9B
17 11.84 DLG1 WNT4 WNT5A WNT7A WNT9B
18 11.83 WNT4 WNT5A WNT7A
19 11.7 TBX3 WNT4 WNT5A WNT7A WNT9B
20
Show member pathways
11.36 WNT4 WNT5A WNT7A WNT9B
21 11.22 HNF1B PAX2 TBX5 TP63 WNT5A WT1
22 11.05 WNT5A WNT7A
23
Show member pathways
10.92 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 endoplasmic reticulum lumen GO:0005788 9.46 LAMC1 WNT4 WNT5A WNT7A
2 Golgi lumen GO:0005796 9.43 WNT4 WNT5A WNT7A
3 endocytic vesicle membrane GO:0030666 9.13 WNT4 WNT5A WNT7A
4 proteinaceous extracellular matrix GO:0005578 9.02 LAMC1 WNT4 WNT5A WNT7A WNT9B

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

(show top 50) (show all 83)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.98 HNF1B PAX2 TBX3 TP63 WNT5A WNT7A
2 multicellular organism development GO:0007275 9.96 LHX1 PAX2 SHOX TBX3 TBX5 TP63
3 skeletal system development GO:0001501 9.93 SHOX TBX3 TP63
4 neuron differentiation GO:0030182 9.92 WNT4 WNT5A WNT9B
5 positive regulation of canonical Wnt signaling pathway GO:0090263 9.92 WNT4 WNT5A WNT7A
6 axonogenesis GO:0007409 9.91 PAX2 WNT5A WNT7A
7 animal organ morphogenesis GO:0009887 9.91 LHX1 TBX3 TP63
8 male gonad development GO:0008584 9.91 WNT4 WNT5A WT1
9 anterior/posterior pattern specification GO:0009952 9.9 HNF1B LHX1 WNT5A
10 cellular response to retinoic acid GO:0071300 9.88 PAX2 WNT5A WNT9B
11 palate development GO:0060021 9.88 TBX3 WNT5A WNT7A WNT9B
12 positive regulation of epithelial cell proliferation GO:0050679 9.87 LAMC1 PAX2 WNT5A
13 embryonic digit morphogenesis GO:0042733 9.87 TBX3 WNT5A WNT7A
14 canonical Wnt signaling pathway GO:0060070 9.87 WNT4 WNT5A WNT7A WNT9B
15 cellular response to transforming growth factor beta stimulus GO:0071560 9.86 WNT4 WNT5A WNT7A
16 pattern specification process GO:0007389 9.86 LHX1 TBX5 TP63
17 ureteric bud development GO:0001657 9.83 DLG1 LHX1 WT1
18 cell fate commitment GO:0045165 9.81 WNT4 WNT5A WNT7A WNT9B
19 embryonic hindlimb morphogenesis GO:0035116 9.8 TBX3 TP63 WNT7A
20 branching morphogenesis of an epithelial tube GO:0048754 9.8 HNF1B WNT4 WNT9B
21 embryonic limb morphogenesis GO:0030326 9.8 TBX5 TP63 WNT5A WNT7A
22 non-canonical Wnt signaling pathway GO:0035567 9.77 WNT4 WNT5A WNT7A
23 kidney development GO:0001822 9.77 HNF1B LHX1 WNT4 WNT9B WT1
24 endoderm development GO:0007492 9.76 HNF1B LAMC1
25 cardiac muscle cell differentiation GO:0055007 9.76 TBX3 TBX5
26 cell aging GO:0007569 9.76 TBX3 TP63
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.76 TP63 WNT5A
28 male genitalia development GO:0030539 9.76 TBX3 WNT9B WT1
29 cochlea morphogenesis GO:0090103 9.75 PAX2 WNT5A
30 limb morphogenesis GO:0035108 9.75 TBX3 WNT5A
31 sex differentiation GO:0007548 9.75 WNT4 WNT7A
32 adrenal gland development GO:0030325 9.74 WNT4 WT1
33 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.74 LHX1 PAX2
34 morphogenesis of an epithelium GO:0002009 9.74 TBX5 WNT5A
35 anatomical structure formation involved in morphogenesis GO:0048646 9.74 LHX1 TP63
36 post-anal tail morphogenesis GO:0036342 9.74 TP63 WNT5A
37 negative regulation of fibroblast growth factor receptor signaling pathway GO:0040037 9.73 WNT4 WNT5A
38 urogenital system development GO:0001655 9.73 LHX1 PAX2
39 establishment of planar polarity GO:0001736 9.73 TP63 WNT5A
40 uterus development GO:0060065 9.73 LHX1 WNT5A WNT7A
41 smooth muscle tissue development GO:0048745 9.72 DLG1 TP63
42 forelimb morphogenesis GO:0035136 9.72 TBX3 TBX5
43 primitive streak formation GO:0090009 9.72 LHX1 WNT5A
44 presynapse assembly GO:0099054 9.71 WNT5A WNT7A
45 vagina development GO:0060068 9.71 LHX1 WNT5A
46 midbrain dopaminergic neuron differentiation GO:1904948 9.71 WNT5A WNT9B
47 metanephric mesenchyme development GO:0072075 9.71 PAX2 WT1
48 mesonephros development GO:0001823 9.71 LHX1 PAX2 WNT4
49 epithelium development GO:0060429 9.7 HNF1B LHX1
50 anterior/posterior axis specification, embryo GO:0008595 9.7 TBX3 WNT5A

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 9.97 HNF1B LHX1 PAX2 SHOX TBX3 TBX5
2 DNA binding transcription factor activity GO:0003700 9.86 HNF1B LHX1 SHOX TBX3 TBX5 TP63
3 transcription regulatory region DNA binding GO:0044212 9.72 HNF1B PAX2 TP63 WNT5A WT1
4 receptor binding GO:0005102 9.71 WNT4 WNT5A WNT7A WNT9B
5 sequence-specific DNA binding GO:0043565 9.7 HNF1B LHX1 SHOX TBX3 TBX5 TP63
6 proximal promoter sequence-specific DNA binding GO:0000987 9.43 HNF1B PAX2
7 frizzled binding GO:0005109 9.26 WNT4 WNT5A WNT7A WNT9B
8 receptor ligand activity GO:0048018 8.92 WNT4 WNT5A WNT7A WNT9B

Sources for Mayer-Rokitansky-Kuster-Hauser Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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