PMDS
MCID: PRS049
MIFTS: 50

Persistent Mullerian Duct Syndrome (PMDS)

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Persistent Mullerian Duct Syndrome

MalaCards integrated aliases for Persistent Mullerian Duct Syndrome:

Name: Persistent Mullerian Duct Syndrome 12 52 36 29 6 43 15
Persistent Oviduct Syndrome 52 25
Pmds 52 25
Persistent Mullerian Duct Syndrome, Types 1 and 2 52
Female Genital Ducts in Otherwise Normal Male 52
Persistent Muellerian Duct Syndrome 12
Persistent Müllerian Duct Syndrome 25
Hernia Uteri Inguinale 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0050791
KEGG 36 H00609
MeSH 43 C536665
NCIt 49 C120188
SNOMED-CT 67 702358005
SNOMED-CT via HPO 68 111332007 204878001 396232000
UMLS 71 C1849930

Summaries for Persistent Mullerian Duct Syndrome

Genetics Home Reference : 25 Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia. The first noted signs and symptoms in males with persistent Müllerian duct syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are typically discovered when surgery is performed to treat these conditions. The testes and female reproductive organs can be located in unusual positions in persistent Müllerian duct syndrome. Occasionally, both testes are undescended (bilateral cryptorchidism) and the uterus is in the pelvis. More often, one testis has descended into the scrotum normally, and one has not. Sometimes, the descended testis pulls the fallopian tube and uterus into the track through which it has descended. This creates a condition called hernia uteri inguinalis, a form of inguinal hernia. In other cases, the undescended testis from the other side of the body is also pulled into the same track, forming an inguinal hernia. This condition, called transverse testicular ectopia, is common in people with persistent Müllerian duct syndrome. Other effects of persistent Müllerian duct syndrome may include the inability to father children (infertility) or blood in the semen (hematospermia). Also, the undescended testes may break down (degenerate) or develop cancer if left untreated.

MalaCards based summary : Persistent Mullerian Duct Syndrome, also known as persistent oviduct syndrome, is related to persistent mullerian duct syndrome, types i and ii and testicular torsion. An important gene associated with Persistent Mullerian Duct Syndrome is AMH (Anti-Mullerian Hormone), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and TGF-beta signaling pathway. The drugs Sertraline and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include uterus, testes and testis, and related phenotypes are cryptorchidism and inguinal hernia

Disease Ontology : 12 A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.

NIH Rare Diseases : 52 Persistent Mullerian duct syndrome (PMDS) is a disorder of sexual development that affects males. Males with PMDS have normal male reproductive organs and normal male external genitalia. However, they also have a uterus and fallopian tubes (female reproductive organs ). The uterus and fallopian tubes develop from a structure called the Mullerian duct, which is present in both male and female fetuses. It typically breaks down in males, but it remains in those with PMDS. Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias . The uterus and fallopian tubes are often incidentally noticed during surgery to treat these conditions. Other features of PMDS may include abnormal positioning of the testes and female reproductive organs ; transverse testicular ectopia (when both testicles descend on the same side); and infertility. PMDS is caused by mutations in the AMH gene (PMDS type 1) or AMHR2 gene (PMDS type 2). It is inherited in an autosomal recessive manner. In some cases, the genetic cause is unknown. Treatment may involve surgery to place the testes within the scrotum and remove Mullerian structures. If not treated, undescended testes may degenerate or develop cancer .

KEGG : 36 Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either by a mutation in the Anti-Mullerian hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time of sex differentiation in fetal life, and have a role in the regression of Mullerian ducts.

Wikipedia : 74 Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian... more...

Related Diseases for Persistent Mullerian Duct Syndrome

Diseases in the Persistent Mullerian Duct Syndrome family:

Persistent Mullerian Duct Syndrome, Types I and Ii

Diseases related to Persistent Mullerian Duct Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome, types i and ii 35.1 AMHR2 AMH
2 testicular torsion 30.5 RXFP2 INSL3 AMH
3 infertility 30.2 RXFP2 NR5A1 INSL3 BMPR1B BMP15
4 hypogonadotropic hypogonadism 30.0 NR5A1 NR0B1 INSL3 AMH
5 testicular cancer 29.9 RXFP2 INSL3 DMRT1
6 hypospadias 29.9 WT1 SRD5A2 SOX9 RXFP2 NR5A1 INSL3
7 hermaphroditism 29.5 WNT4 SRD5A2 SOX9 NR0B1 DMRT1 AMHR2
8 pseudohermaphroditism 29.3 WT1 SRD5A2 NR5A1 NR0B1 INSL3 HSD17B3
9 cryptorchidism, unilateral or bilateral 29.1 WT1 SRD5A2 SOX9 RXFP2 NR5A1 NR0B1
10 disorders of sexual development 27.1 WT1 WNT4 SRD5A2 SOX9 RXFP2 NR5A1
11 pelizaeus-merzbacher disease 12.5
12 microphthalmia, syndromic 9 11.8
13 spastic paraplegia 2, x-linked 11.8
14 pelizaeus-merzbacher-like disease 11.4
15 hypomyelinating leukodystrophy 11.3
16 pelizaeus-merzbacher disease, classic form 11.2
17 pelizaeus-merzbacher disease, transitional form 11.2
18 leukodystrophy, hypomyelinating, 3 11.2
19 pellucid marginal degeneration 11.2
20 inguinal hernia 10.8
21 seminoma 10.5
22 testicular gonadoblastoma 10.4 WT1 AMH
23 microcystic stromal tumor 10.4 WT1 NR5A1
24 ovarian large-cell neuroendocrine carcinoma 10.4 WT1 AMH
25 leukodystrophy 10.4
26 muscular dystrophy 10.4
27 progressive muscular dystrophy 10.4
28 testicular seminoma 10.3
29 anorchia 10.3 RXFP2 NR5A1 INSL3
30 46 xx gonadal dysgenesis 10.3 NR5A1 BMP15 AMH
31 sex cord-gonadal stromal tumor 10.3 WT1 NR5A1 AMH
32 frasier syndrome 10.3 WT1 SOX9 NR5A1
33 ovarian sex-cord stromal tumor 10.3 WT1 NR5A1
34 pulmonary arterial hypertension associated with congenital heart disease 10.3 BMPR1B BMPR1A
35 ovarian serous adenofibroma 10.3 WNT4 AMH
36 chromosome 10q23 deletion syndrome 10.2 BMPR1B BMPR1A
37 ovarian serous cystadenofibroma 10.2 WNT4 AMH
38 synostoses, tarsal, carpal, and digital 10.2 BMPR1B ACVR1
39 paraplegia 10.2
40 plp1 disorders 10.2
41 head injury 10.2
42 germ cells tumors 10.2
43 juvenile type testicular granulosa cell tumor 10.2 WT1 BMPR1B
44 46,xy sex reversal 9 10.2 WT1 SOX9 NR5A1 AMH
45 testicular granulosa cell tumor 10.2 WT1 BMPR1B
46 androgen insensitivity syndrome 10.2 SRD5A2 NR5A1 HSD17B3 AMH
47 amenorrhea 10.1 WNT4 NR5A1 BMP15
48 leiomyoma, uterine 10.1
49 leiomyoma 10.1
50 endodermal sinus tumor 10.1

Graphical network of the top 20 diseases related to Persistent Mullerian Duct Syndrome:



Diseases related to Persistent Mullerian Duct Syndrome

Symptoms & Phenotypes for Persistent Mullerian Duct Syndrome

Human phenotypes related to Persistent Mullerian Duct Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 hallmark (90%) HP:0000028
2 inguinal hernia 31 frequent (33%) HP:0000023
3 male pseudohermaphroditism 31 frequent (33%) HP:0000037

GenomeRNAi Phenotypes related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.23 ACVR1 BMPR1B
2 Decreased substrate adherent cell growth GR00193-A-2 9.23 BMPR1A
3 Decreased substrate adherent cell growth GR00193-A-3 9.23 ACVR1 BMPR1A
4 Decreased substrate adherent cell growth GR00193-A-4 9.23 ACVR1 BMPR1A BMPR1B

MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.03 AMH AMHR2 BMP15 BMPR1A BMPR1B DMRT1
2 embryo MP:0005380 9.91 ACVR1 AMHR2 BMPR1A BMPR1B NR5A1 SOX9
3 neoplasm MP:0002006 9.5 ACVR1 AMH AMHR2 BMPR1A NR0B1 RXFP2
4 reproductive system MP:0005389 9.5 AMH AMHR2 BMP15 BMPR1A BMPR1B DMRT1

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

Drugs for Persistent Mullerian Duct Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sertraline Approved Phase 4 79617-96-2 68617
2 Antidepressive Agents Phase 4
3 Psychotropic Drugs Phase 4
4 Serotonin Uptake Inhibitors Phase 4
5 Neurotransmitter Agents Phase 4
6
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
7
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
8 Artemisinins
9 Artemisinine
10 Antimalarials
11 Retinol palmitate
12 retinol

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acoustic Startle Response in Women With Premenstrual Mood Disorders Recruiting NCT02777372 Phase 4 Sertraline
2 A Cost-effectiveness Analysis of Alternative Strategies for the Deployment of ACTs at the Community Level in Cameroon and Nigeria Completed NCT01350752
3 Compare the Effectiveness of Modified Toy Cars Training With Various Intensity of Postural Combinations on Mobility and Socialization in Toddlers With Motor Disabilities: a Randomized Controlled Trial. Recruiting NCT03707405

Search NIH Clinical Center for Persistent Mullerian Duct Syndrome

Cochrane evidence based reviews: persistent mullerian duct syndrome

Genetic Tests for Persistent Mullerian Duct Syndrome

Genetic tests related to Persistent Mullerian Duct Syndrome:

# Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome 29 AMH AMHR2

Anatomical Context for Persistent Mullerian Duct Syndrome

MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

40
Uterus, Testes, Testis, Cervix, Placenta, Brain, Breast

Publications for Persistent Mullerian Duct Syndrome

Articles related to Persistent Mullerian Duct Syndrome:

(show top 50) (show all 459)
# Title Authors PMID Year
1
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases. 52 61
28528332 2017
2
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles. 61
32522805 2020
3
Detection and Treatment of Persistent Mullerian Duct Syndrome With Transverse Testicular Ectopia. 61
32199871 2020
4
A Simplified Management of Transverse Testicular Ectopia in Patients with Persistent Mullerian Duct Syndrome. 61
32478403 2020
5
Transverse testicular ectopia with persistent Mullerian duct syndrome: an operative eureka. 61
32492648 2020
6
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias. 61
32443735 2020
7
Robot-assisted hysterectomy in a 41-year-old male: A rare case report. 61
32042594 2020
8
The effect of antithrombotic therapy on the recurrence of placenta-mediated diseases in pregnancy. 61
32403962 2020
9
Attitudes is the most important environmental factor for use of powered mobility devices - users' perspectives. 61
30856033 2020
10
[Functional movement disorders in children and adolescents]. 61
32434652 2020
11
Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge. 61
32187366 2020
12
Non-polyphenolic natural inhibitors of amyloid aggregation. 61
32172082 2020
13
Epidemiology and Outcome of Powered Mobility Device-Related Injuries in Korea. 61
32141250 2020
14
Single-Cell Response to the Rigidity of Semiconductor Nanomembranes on Compliant Substrates. 61
32027483 2020
15
Influence of Cognitive Functioning on Powered Mobility Device Use: Protocol for a Systematic Review. 61
32209537 2020
16
Feasibility of opportunistic screening for oral cancers in a dental outpatient department of a secondary care hospital in Northern India. 61
32318444 2020
17
Pilocytic Astrocytoma demethylation and transcriptional landscapes link bZIP transcription factors to immune response. 61
32052037 2020
18
Injury patterns associated with personal mobility devices and electric bicycles: an analysis from an acute general hospital in Singapore. 61
31363783 2020
19
A rare case report of bilateral recurrent inguinal hernia due to persistent Müllerian duct syndrome treated by transabdominal preperitoneal repair. 61
32049810 2020
20
The Role of Carcinogenesis-Related Biomarkers in the Wnt Pathway and Their Effects on Epithelial-Mesenchymal Transition (EMT) in Oral Squamous Cell Carcinoma. 61
32121061 2020
21
Intraplacental Villous Artery Doppler as an Independent Predictor for Placenta-Mediated Disease and Its Comparison with Uterine Artery Doppler and/or Placental Biochemical Markers in Predictive Models: A Prospective Cohort Study. 61
31726454 2020
22
Oral potentially malignant disorders: clinical diagnosis and current screening aids: a narrative review. 61
30921006 2020
23
Fundamentals of cross-seeding of amyloid proteins: an introduction. 61
31647489 2019
24
Calibration of Portable Particulate Matter-Monitoring Device using Web Query and Machine Learning. 61
31890328 2019
25
The Spectrum of Histological Findings in Oral Biopsies 61
32081194 2019
26
Cerebral Amyloid Angiopathy, Alzheimer's Disease and MicroRNA: miRNA as Diagnostic Biomarkers and Potential Therapeutic Targets. 61
31586276 2019
27
Persistent Mü̈llerian duct syndrome in a beluga whale Delphinapterus leucas. 61
31724560 2019
28
AMH and AMHR2 mutations: A spectrum of reproductive phenotypes across vertebrate species. 61
31301298 2019
29
A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome. 61
31238341 2019
30
Random forest-based modelling to detect biomarkers for prostate cancer progression. 61
31640781 2019
31
Base-Resolution Methylome of Retinal Pigment Epithelial Cells Used in the First Trial of Human Induced Pluripotent Stem Cell-Based Autologous Transplantation. 61
31564644 2019
32
Persistent Mullerian Duct Syndrome: A rare clinical entity. 61
31719745 2019
33
Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype. 61
31184456 2019
34
Predictive value of CCND1/cyclin D1 alterations in the malignant transformation of potentially malignant head and neck disorders: Systematic review and meta-analysis. 61
31184805 2019
35
Evaluation of Treatment Response in Prostate Cancer and Renal Cell Carcinoma Patients Using 11C-choline PET/CT Findings. 61
31439957 2019
36
Persistent Müllerian duct syndrome: an update. 61
32172781 2019
37
Keep an eye on your personal belongings! The security of personal medical devices and their ecosystems. 61
31201966 2019
38
Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report. 61
31080737 2019
39
Comparison of different stains in exfoliated oral mucosal cell micronucleus of potentially malignant disorders of oral cavity. 61
31169229 2019
40
Rapidly responsive smart adhesive-coated micropillars utilizing catechol-boronate complexation chemistry. 61
31237299 2019
41
The price of personal mobility: burden of injury and mortality from personal mobility devices in Singapore - a nationwide cohort study. 61
31272425 2019
42
Substrate elasticity induces quiescence and promotes neurogenesis of primary neural stem cells-A biophysical in vitro model of the physiological cerebral milieu. 61
30815982 2019
43
Probabilistic controllability approach to metabolic fluxes in normal and cancer tissues. 61
31221963 2019
44
Antibiotic-resistant bacteria on personal devices in hospital intensive care units: Molecular approaches to quantifying and describing changes in the bacterial community of personal mobile devices. 61
30973128 2019
45
Paroxysmal Movement Disorders: Recent Advances. 61
31187296 2019
46
Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog. 61
31241703 2019
47
A unique case of aggressive uterine cancer in a 45-year-old man with persistent Müllerian duct syndrome. 61
31070141 2019
48
Evaluation of candidal species among individuals with oral potentially malignant disorders and oral squamous cell carcinoma. 61
31516244 2019
49
"SKILL TO KILL" - Oral cancer and potentially premalignant oral epithelial lesions (PPOELs): A survey approach. Emerging of a new system and professionals. 61
31516232 2019
50
Maternal-biased H3K27me3 correlates with paternal-specific gene expression in the human morula. 61
30808660 2019

Variations for Persistent Mullerian Duct Syndrome

ClinVar genetic disease variations for Persistent Mullerian Duct Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMH NM_000479.5(AMH):c.974A>G (p.Gln325Arg)SNV Benign/Likely benign 381531 rs140765565 19:2251247-2251247 19:2251248-2251248
2 AMH NM_000479.5(AMH):c.146G>T (p.Ser49Ile)SNV Benign 518296 rs10407022 19:2249477-2249477 19:2249478-2249478
3 AMH NM_000479.5(AMH):c.1239T>A (p.Gly413=)SNV Benign 518297 rs7252789 19:2251512-2251512 19:2251513-2251513
4 AMHR2 NM_020547.3(AMHR2):c.622-6C>TSNV Benign 522208 rs2071558 12:53819467-53819467 12:53425683-53425683

Expression for Persistent Mullerian Duct Syndrome

Search GEO for disease gene expression data for Persistent Mullerian Duct Syndrome.

Pathways for Persistent Mullerian Duct Syndrome

Pathways related to Persistent Mullerian Duct Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 TGF-beta signaling pathway hsa04350

Pathways related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 WNT7A WNT4 NR5A1 NR0B1 CYP21A2
2
Show member pathways
12.26 MIR4321 BMPR1A AMH ACVR1
3
Show member pathways
12.21 WNT7A WNT4 BMPR1B BMPR1A ACVR1
4 11.85 WNT7A WNT4 BMPR1B BMPR1A AMH
5
Show member pathways
11.55 SRD5A2 HSD17B3 CYP21A2
6 11.51 WNT7A WNT4 BMPR1B BMPR1A ACVR1
7
Show member pathways
11.41 SRD5A2 HSD17B3 CYP21A2
8 10.99 BMPR1B BMPR1A AMHR2 AMH ACVR1
9
Show member pathways
10.84 SRD5A2 HSD17B3 CYP21A2
10 10.37 AMHR2 AMH ACVR1

GO Terms for Persistent Mullerian Duct Syndrome

Cellular components related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.46 BMPR1B BMPR1A AMHR2 ACVR1
2 HFE-transferrin receptor complex GO:1990712 8.96 BMPR1B BMPR1A
3 activin receptor complex GO:0048179 8.62 AMHR2 ACVR1

Biological processes related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.23 WT1 WNT7A SOX9 NR5A1 DMRT1 BMPR1B
2 cell differentiation GO:0030154 10.18 WNT4 SRD5A2 SOX9 NR5A1 NR0B1 DMRT1
3 positive regulation of gene expression GO:0010628 10.08 WT1 WNT7A SOX9 NR5A1 AMH
4 positive regulation of transcription, DNA-templated GO:0045893 10.08 WT1 WNT7A WNT4 SOX9 NR5A1 BMPR1A
5 heart development GO:0007507 9.99 WT1 SOX9 BMPR1A ACVR1
6 cartilage development GO:0051216 9.91 WNT7A SOX9 BMPR1B BMPR1A
7 cellular response to growth factor stimulus GO:0071363 9.89 BMPR1B BMPR1A AMHR2 ACVR1
8 steroid biosynthetic process GO:0006694 9.88 SRD5A2 NR0B1 HSD17B3 CYP21A2
9 positive regulation of osteoblast differentiation GO:0045669 9.88 WNT4 BMPR1B BMPR1A ACVR1
10 transforming growth factor beta receptor signaling pathway GO:0007179 9.87 BMPR1A AMHR2 ACVR1
11 chondrocyte differentiation GO:0002062 9.86 WNT7A SOX9 BMPR1B BMPR1A
12 cell fate commitment GO:0045165 9.85 WNT7A WNT4 SOX9
13 dorsal/ventral pattern formation GO:0009953 9.85 WNT7A BMPR1B BMPR1A ACVR1
14 cellular response to transforming growth factor beta stimulus GO:0071560 9.84 WNT7A WNT4 SOX9
15 positive regulation of bone mineralization GO:0030501 9.84 WNT4 BMPR1B BMPR1A ACVR1
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.83 BMPR1A BMP15 ACVR1
17 branching involved in ureteric bud morphogenesis GO:0001658 9.83 WT1 WNT4 SOX9
18 female gonad development GO:0008585 9.8 WNT4 NR5A1 AMHR2
19 cellular response to BMP stimulus GO:0071773 9.8 SOX9 BMPR1B BMPR1A ACVR1
20 BMP signaling pathway GO:0030509 9.8 BMPR1B BMPR1A BMP15 AMHR2 AMH ACVR1
21 cartilage condensation GO:0001502 9.79 WNT7A SOX9 BMPR1B
22 male genitalia development GO:0030539 9.79 WT1 SRD5A2 HSD17B3
23 endocardial cushion morphogenesis GO:0003203 9.77 SOX9 BMPR1A ACVR1
24 gonad development GO:0008406 9.74 WT1 NR0B1 AMH
25 adrenal gland development GO:0030325 9.73 WT1 WNT4 NR5A1 NR0B1
26 chondrocyte development GO:0002063 9.71 SOX9 BMPR1B
27 activin receptor signaling pathway GO:0032924 9.71 AMHR2 ACVR1
28 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.71 BMPR1B BMPR1A AMHR2 ACVR1
29 positive regulation of chondrocyte differentiation GO:0032332 9.7 SOX9 BMPR1B
30 positive regulation of cartilage development GO:0061036 9.7 SOX9 BMPR1B
31 hormone metabolic process GO:0042445 9.7 WNT4 NR5A1
32 smooth muscle cell differentiation GO:0051145 9.69 WNT4 ACVR1
33 oocyte development GO:0048599 9.69 WNT4 DMRT1
34 Sertoli cell differentiation GO:0060008 9.69 SOX9 NR0B1 DMRT1
35 Sertoli cell development GO:0060009 9.68 SOX9 DMRT1
36 androgen biosynthetic process GO:0006702 9.68 SRD5A2 HSD17B3
37 mesenchymal to epithelial transition GO:0060231 9.68 WT1 WNT4
38 mitral valve morphogenesis GO:0003183 9.67 BMPR1A ACVR1
39 male sex determination GO:0030238 9.67 SOX9 NR5A1 NR0B1 DMRT1
40 testosterone biosynthetic process GO:0061370 9.66 SRD5A2 HSD17B3
41 BMP signaling pathway involved in heart development GO:0061312 9.66 BMPR1A ACVR1
42 cardiac muscle cell fate commitment GO:0060923 9.65 WT1 ACVR1
43 endochondral bone morphogenesis GO:0060350 9.64 SOX9 BMPR1B
44 negative regulation of female gonad development GO:2000195 9.64 WT1 NR5A1
45 renal vesicle induction GO:0072034 9.63 WNT4 SOX9
46 Mullerian duct regression GO:0001880 9.63 BMPR1A AMHR2 AMH
47 positive regulation of male gonad development GO:2000020 9.56 WT1 SOX9 NR5A1 DMRT1
48 sex determination GO:0007530 9.46 WT1 NR5A1 NR0B1 AMH
49 sex differentiation GO:0007548 9.43 WNT7A WNT4 SRD5A2 DMRT1 AMHR2 AMH
50 male gonad development GO:0008584 9.28 WT1 WNT4 SRD5A2 SOX9 RXFP2 NR5A1

Molecular functions related to Persistent Mullerian Duct 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 9.73 WT1 SOX9 NR5A1 NR0B1 DMRT1 BMPR1A
2 SMAD binding GO:0046332 9.33 BMPR1B BMPR1A ACVR1
3 activin binding GO:0048185 9.32 AMHR2 ACVR1
4 transforming growth factor beta receptor activity, type I GO:0005025 9.13 BMPR1B BMPR1A ACVR1
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.92 BMPR1B BMPR1A AMHR2 ACVR1

Sources for Persistent Mullerian Duct Syndrome

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