RKH SYNDROME
MCID: MYR002
MIFTS: 55

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

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

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

Aliases & Descriptions for Mayer-Rokitansky-Kuster-Hauser Syndrome:

Name: Mayer-Rokitansky-Kuster-Hauser Syndrome 54 24 66 25 56
Mrkh Syndrome 24 25 56 66
Congenital Absence of Uterus and Vagina 24 56
Rokitansky Kuster Hauser Syndrome 25 69
Rokitansky-Kuster-Hauser Syndrome 66 29
Rokitansky Syndrome 25 56
Mrkh Anomaly 24 66
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida 24
Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 56
Congenital Absence of the Uterus and Vagina 25
Von Mayer-Rokitansky-Kuster Anomaly 24
Genital Renal Ear Syndrome 25
Mullerian Dysgenesis 25
Mrkh Syndrome Type 1 56
Rokitansky Sequence 56
Mullerian Agenesis 25
Mullerian Aplasia 25
Rkh Syndrome 66
Mrk Anomaly 24
Cauv 24

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 277000
ICD10 via Orphanet 34 Q51.8
MedGen 40 C1698581

Summaries for Mayer-Rokitansky-Kuster-Hauser Syndrome

OMIM : 54 Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically... (277000) more...

MalaCards based summary : Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to mullerian aplasia and hyperandrogenism and hypoplastic thumb mullerian aplasia, and has symptoms including 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 Pathways in cancer and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include uterus, kidney and cervix, and related phenotypes are Decreased viability in esophageal squamous lineage and embryo

UniProtKB/Swiss-Prot : 66 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.

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 43)
id Related Disease Score Top Affiliating Genes
1 mullerian aplasia and hyperandrogenism 12.3
2 hypoplastic thumb mullerian aplasia 12.2
3 rokitansky sequence 12.1
4 mullerian aplasia 11.5
5 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.9
6 leiomyoma 10.6
7 gonadal dysgenesis 10.6
8 vaginitis 10.6
9 endometriosis 10.5
10 adenomyosis 10.4
11 von willebrand's disease 10.3
12 complete androgen insensitivity syndrome 10.3
13 fibromatosis 10.3
14 urethritis 10.3
15 amenorrhea 10.3
16 murcs association 10.3
17 endodermal sinus tumor 10.3
18 hyperprolactinemia 10.3
19 silver-russell syndrome 10.3
20 teratoma 10.3
21 androgen insensitivity 10.3
22 duodenal obstruction 10.3
23 total anomalous pulmonary venous return 10.3
24 kidney disease 10.3
25 pelviureteric junction obstruction 10.3
26 situs inversus 10.3
27 peritonitis 10.3
28 duodenitis 10.3
29 vaginal cancer 10.3
30 neurofibromatosis 10.3
31 esophagitis 10.3
32 adamts10-related weill-marchesani syndrome 10.1 PAX2 TBX5
33 syndactyly, type iv 10.1 TBX3 TBX5
34 joubert syndrome 13 10.1 TBX3 TBX5
35 mucinous adenofibroma 10.1 PAX2 WT1
36 exotropia 10.1 WNT7A WT1
37 pseudohypoparathyroidism ia 10.0 PAX2 TBX3 TBX5
38 diprosopia 9.9 LAMC1 PAX2 WT1
39 superficial urinary bladder cancer 9.9 PAX2 TP63
40 myasthenia gravis congenital 9.9 TBX3 TBX5 TP63 WNT4
41 thrombocytopenia-absent radius syndrome 9.9
42 thrombocytopenia 9.9
43 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 8.2 DLG1 GALT LAMC1 LHX1 PAX2 SHOX

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 by clinical synopsis from OMIM:

277000

Clinical features from OMIM:

277000

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

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectopic kidney 56 32 Occasional (29-5%) HP:0000086
2 abnormal form of the vertebral bodies 56 32 Occasional (29-5%) HP:0003312
3 horseshoe kidney 56 32 Occasional (29-5%) HP:0000085
4 vertebral fusion 56 32 Occasional (29-5%) HP:0002948
5 abnormality of the sacrum 56 32 Occasional (29-5%) HP:0005107
6 unilateral renal agenesis 56 32 Occasional (29-5%) HP:0000122
7 aplasia of the uterus 56 32 Very frequent (99-80%) HP:0000151
8 hypoplasia of the vagina 56 32 Very frequent (99-80%) HP:0008726
9 abnormality of the kidney 56 Frequent (79-30%)
10 vertebral segmentation defect 56 Occasional (29-5%)
11 hypoplasia of the uterus 32 HP:0000013
12 amenorrhea 32 HP:0000141
13 aplasia of the vagina 32 HP:0003250

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.23 DLG1 LHX1 SHOX TBX3 TBX5 TP63

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.23 DLG1 LAMC1 LHX1 PAX2 TBX3 TBX5
2 cardiovascular system MP:0005385 10.13 TP63 WNT5A WNT7A WT1 LAMC1 LHX1
3 endocrine/exocrine gland MP:0005379 10.13 DLG1 LAMC1 LHX1 PAX2 TBX3 TP63
4 growth/size/body region MP:0005378 10.1 DLG1 LAMC1 LHX1 TBX3 TBX5 TP63
5 mortality/aging MP:0010768 10.1 DLG1 LAMC1 LHX1 PAX2 TBX3 TBX5
6 limbs/digits/tail MP:0005371 9.91 DLG1 TBX3 TBX5 TP63 WNT4 WNT5A
7 normal MP:0002873 9.81 WNT4 WNT5A WNT7A WT1 LAMC1 LHX1
8 muscle MP:0005369 9.73 DLG1 LAMC1 TBX3 TBX5 TP63 WT1
9 renal/urinary system MP:0005367 9.61 DLG1 LAMC1 LHX1 PAX2 TP63 WNT4
10 reproductive system MP:0005389 9.36 WNT5A WNT7A WNT9B WT1 DLG1 LAMC1

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 VARITI-5 : Study of Variations of Serum ITIH5 in Women During the Genital Life and in Pathological Situations Completed NCT01826500
2 Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome Recruiting NCT02967822

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:

id Genetic test Affiliating Genes
1 Rokitansky Kuster Hauser Syndrome 29
2 Mayer-Rokitansky-Kuster-Hauser Syndrome 24

Anatomical Context for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

39
Uterus, Kidney, Cervix, Ovary, Lung, Colon

Publications for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

(show top 50) (show all 104)
id Title Authors Year
1
Epigenetic modifications of primordial reproductive tract: A common etiologic pathway for Mayer-Rokitansky-Kuster-Hauser Syndrome and endometriosis? ( 27063075 )
2016
2
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
3
Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome. ( 27241658 )
2016
4
Robotic Sigmoid Vaginoplasty in an Adolescent Girl With Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27093154 )
2016
5
Laparoscopic Davydov Procedure for the Creation of a Neovagina in Patients with Mayer-Rokitansky-Kuster-Hauser Syndrome: Analysis of 7 Cases. ( 27344998 )
2016
6
Long-Term Outcomes of Laparoscopic Bean Vaginoplasty (Modified Vecchietti Procedure) for Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27120395 )
2016
7
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
8
A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis. ( 27190929 )
2016
9
Rare Case of Leiomyoma and Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 27843659 )
2016
10
An unusual cause of urinary incontinence: Urethral coitus in a case of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 27617320 )
2016
11
Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas. ( 25468053 )
2015
12
Mayer-Rokitansky-Kuster-Hauser syndrome: a review. ( 26586965 )
2015
13
A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas in hypoplastic uterus. ( 26752861 )
2015
14
Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence. ( 26454229 )
2015
15
Colovaginoplasty in a case of mayer-rokitansky-kuster-hauser syndrome. ( 24834388 )
2014
16
And god created woman? The link between female sexuality and the mother-daughter relationship in Mayer-Rokitansky-Kuster-Hauser syndrome in adolescents. ( 24552429 )
2014
17
Importance of Laparoscopic Assessment of the Uterine Adnexa in a Mayer-Rokitansky-Kuster-Hauser Syndrome Type II Case. ( 25729598 )
2014
18
Mayer-rokitansky-kuster-hauser syndrome associated with severe inferior vena cava stenosis. ( 25136466 )
2014
19
An unusual cause of duodenal obstruction: mesenteric fibromatosis in a patient with type I Mayer-Rokitansky-Kuster-Hauser syndrome. ( 24918139 )
2014
20
Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. ( 24948340 )
2014
21
Mayer-Rokitansky-Kuster-Hauser syndrome: diagnosis with MR imaging. ( 23942608 )
2013
22
Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. ( 23431465 )
2013
23
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature. ( 24251185 )
2013
24
Large leiomyoma in a woman with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 23705045 )
2013
25
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. ( 23167253 )
2013
26
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
27
Uterine adenomyosis which developed from hypoplastic uterus in postmenopausal woman with mayer-rokitansky-kuster-hauser syndrome: a case report. ( 25371879 )
2013
28
Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case. ( 23901207 )
2013
29
MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 23271504 )
2013
30
Laparoscopic Davydov correction of a failed gracilis flap neovagina in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome with a pelvic kidney. ( 23465266 )
2013
31
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
32
Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. ( 22052385 )
2012
33
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. ( 22377151 )
2012
34
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
35
In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype. ( 21144508 )
2011
36
Diagnosis of a variant of Mayer-Rokitansky-Kuster-Hauser syndrome: useful MRI findings. ( 21717137 )
2011
37
Presurgical management of dysmenorrhea and endometriosis in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 21718988 )
2011
38
Laparoscopic evaluation of pelvic pain with Surgicel vaginoplasty in a woman with Mayer Rokitansky Kuster Hauser syndrome. ( 20728979 )
2011
39
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
40
Chronic kidney disease in Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 21206686 )
2010
41
Mayer-Rokitansky-Kuster-Hauser syndrome and anal canal stenosis: case report and review of literature. ( 21129528 )
2010
42
Mayer-rokitansky-kuster-hauser syndrome: surgical management of two cases. ( 22091331 )
2010
43
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. ( 20847698 )
2010
44
Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report. ( 21253547 )
2010
45
Anomalous vasculature in Mayer-Rokitansky-Kuster-Hauser syndrome. ( 20116787 )
2010
46
Creation of a neovagina after Creatsas modification of Williams vaginoplasty for the treatment of 200 patients with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 19939365 )
2010
47
Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings. ( 19165657 )
2009
48
Two cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with situs inversus totalis: coincidence or co-existence? ( 19493518 )
2009
49
Sexuality after laparoscopic peritoneal vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser syndrome. ( 19896598 )
2009
50
Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula. ( 19635284 )
2009

Variations for Mayer-Rokitansky-Kuster-Hauser Syndrome

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

7
id 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 21)
id Super pathways Score Top Affiliating Genes
1 12.49 LAMC1 WNT4 WNT5A WNT7A WNT9B
2
Show member pathways
12.38 WNT4 WNT5A WNT7A WNT9B
3
Show member pathways
12.34 WNT4 WNT5A WNT7A WNT9B
4 12.26 WNT4 WNT5A WNT7A WNT9B
5
Show member pathways
12.25 TBX5 WNT4 WNT5A WNT7A WNT9B
6
Show member pathways
12.2 WNT4 WNT5A WNT7A WNT9B
7 12.17 DLG1 WNT4 WNT5A WNT7A WNT9B
8 12.13 WNT4 WNT5A WNT7A WNT9B
9
Show member pathways
12.12 DLG1 WNT4 WNT5A WNT7A WNT9B
10
Show member pathways
12.04 WNT4 WNT5A WNT7A WNT9B
11 12 WNT4 WNT5A WNT7A WNT9B
12
Show member pathways
11.92 WNT4 WNT5A WNT7A WNT9B
13 11.89 WNT4 WNT5A WNT7A WNT9B
14 11.82 WNT4 WNT5A WNT7A
15 11.74 DLG1 WNT4 WNT5A WNT7A WNT9B
16 11.5 TBX3 WNT4 WNT5A WNT7A WNT9B
17 11.49 WNT4 WNT5A WNT7A
18
Show member pathways
11.3 WNT4 WNT5A WNT7A WNT9B
19 11.15 PAX2 TBX5 TP63 WNT5A WT1
20 11.05 WNT5A WNT7A
21
Show member pathways
10.91 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:

id 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 74)
id Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.98 WNT4 WNT5A WNT7A WNT9B
2 skeletal system development GO:0001501 9.91 SHOX TBX3 TP63
3 neuron differentiation GO:0030182 9.91 WNT4 WNT5A WNT9B
4 axonogenesis GO:0007409 9.9 PAX2 WNT5A WNT7A
5 positive regulation of canonical Wnt signaling pathway GO:0090263 9.9 WNT4 WNT5A WNT7A
6 animal organ morphogenesis GO:0009887 9.9 LHX1 TBX3 TP63
7 male gonad development GO:0008584 9.89 WNT4 WNT5A WT1
8 cellular response to retinoic acid GO:0071300 9.87 PAX2 WNT5A WNT9B
9 positive regulation of epithelial cell proliferation GO:0050679 9.86 LAMC1 PAX2 WNT5A
10 kidney development GO:0001822 9.86 LHX1 WNT4 WNT9B WT1
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.85 WNT4 WNT5A WNT7A
12 multicellular organism development GO:0007275 9.85 LHX1 PAX2 SHOX TBX3 TBX5 TP63
13 embryonic digit morphogenesis GO:0042733 9.84 TBX3 WNT5A WNT7A
14 pattern specification process GO:0007389 9.84 LHX1 TBX5 TP63
15 palate development GO:0060021 9.83 TBX3 WNT5A WNT7A WNT9B
16 canonical Wnt signaling pathway GO:0060070 9.81 WNT4 WNT5A WNT7A WNT9B
17 ureteric bud development GO:0001657 9.8 DLG1 LHX1 WT1
18 negative regulation of transcription, DNA-templated GO:0045892 9.8 LHX1 PAX2 TBX3 TP63 WNT4 WNT5A
19 positive regulation of receptor activity GO:2000273 9.78 WNT4 WNT5A WNT7A
20 embryonic forelimb morphogenesis GO:0035115 9.77 TBX3 TBX5 WNT7A
21 cardiac muscle cell differentiation GO:0055007 9.75 TBX3 TBX5
22 cell aging GO:0007569 9.75 TBX3 TP63
23 branching morphogenesis of an epithelial tube GO:0048754 9.75 WNT4 WNT9B
24 embryonic hindlimb morphogenesis GO:0035116 9.74 TBX3 WNT7A
25 positive regulation of mesenchymal cell proliferation GO:0002053 9.74 TP63 WNT5A
26 cochlea morphogenesis GO:0090103 9.74 PAX2 WNT5A
27 limb morphogenesis GO:0035108 9.74 TBX3 WNT5A
28 sex differentiation GO:0007548 9.74 WNT4 WNT7A
29 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.73 LHX1 PAX2
30 adrenal gland development GO:0030325 9.73 WNT4 WT1
31 post-anal tail morphogenesis GO:0036342 9.73 TP63 WNT5A
32 morphogenesis of an epithelium GO:0002009 9.73 TBX5 WNT5A
33 anatomical structure formation involved in morphogenesis GO:0048646 9.73 LHX1 TP63
34 cell fate commitment GO:0045165 9.73 WNT4 WNT5A WNT7A WNT9B
35 urogenital system development GO:0001655 9.72 LHX1 PAX2
36 establishment of planar polarity GO:0001736 9.71 TP63 WNT5A
37 kidney morphogenesis GO:0060993 9.71 WNT4 WNT9B
38 primitive streak formation GO:0090009 9.71 LHX1 WNT5A
39 forelimb morphogenesis GO:0035136 9.71 TBX3 TBX5
40 smooth muscle tissue development GO:0048745 9.71 DLG1 TP63
41 male genitalia development GO:0030539 9.71 TBX3 WNT9B WT1
42 embryonic limb morphogenesis GO:0030326 9.71 TBX5 TP63 WNT5A WNT7A
43 midbrain dopaminergic neuron differentiation GO:1904948 9.7 WNT5A WNT9B
44 negative regulation of fibroblast growth factor receptor signaling pathway GO:0040037 9.7 WNT4 WNT5A
45 vagina development GO:0060068 9.7 LHX1 WNT5A
46 metanephric mesenchyme development GO:0072075 9.69 PAX2 WT1
47 anterior/posterior axis specification, embryo GO:0008595 9.69 TBX3 WNT5A
48 uterus morphogenesis GO:0061038 9.68 WNT7A WNT9B
49 pronephros development GO:0048793 9.67 LHX1 PAX2
50 uterus development GO:0060065 9.67 LHX1 WNT5A WNT7A

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.95 LHX1 PAX2 SHOX TBX3 TBX5 TP63
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.8 LHX1 SHOX TBX3 TBX5 TP63 WNT5A
3 receptor binding GO:0005102 9.67 WNT4 WNT5A WNT7A WNT9B
4 sequence-specific DNA binding GO:0043565 9.63 LHX1 SHOX TBX3 TBX5 TP63 WT1
5 transcription regulatory region DNA binding GO:0044212 9.62 PAX2 TP63 WNT5A WT1
6 receptor agonist activity GO:0048018 9.13 WNT4 WNT5A WNT7A
7 frizzled binding GO:0005109 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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