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


External Ids:

Disease Ontology 12 DOID:0050791
KEGG 36 H00609
MeSH 43 C536665
NCIt 49 C120188
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 pseudohermaphroditism. 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 Neurotransmitter 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 Mullerian duct syndrome (PMDS) is the presence of Mullerian 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 98)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome, types i and ii 34.9 AMHR2 AMH
2 pseudohermaphroditism 30.4 SRD5A2 NR5A1 INSL3 AMHR2 AMH
3 sex development disorder 29.8 SRD5A2 NR5A1 INSL3 AMHR2 AMH
4 cryptorchidism, unilateral or bilateral 29.8 SRD5A2 SOX9 NR5A1 INSL3 AMHR2 AMH
5 hypogonadotropic hypogonadism 29.8 NR5A1 INSL3 AMH
6 hypospadias 29.6 SRD5A2 SOX9 NR5A1 INSL3
7 hermaphroditism 29.5 SRD5A2 SOX9 NR5A1 AMHR2 AMH
8 pelizaeus-merzbacher disease 12.5
9 microphthalmia, syndromic 9 11.8
10 spastic paraplegia 2, x-linked 11.7
11 pelizaeus-merzbacher-like disease 11.4
12 hypomyelinating leukodystrophy 11.3
13 pelizaeus-merzbacher disease, classic form 11.2
14 pelizaeus-merzbacher disease, transitional form 11.2
15 leukodystrophy, hypomyelinating, 3 11.2
16 pellucid marginal degeneration 11.2
17 inguinal hernia 10.8
18 seminoma 10.5
19 testicular seminoma 10.3
20 muscular dystrophy 10.3
21 progressive muscular dystrophy 10.3
22 testicular cancer 10.3
23 infertility 10.3
24 leukodystrophy 10.3
25 anorchia 10.3 NR5A1 INSL3
26 adrenal rest tumor 10.2 NR5A1 INSL3
27 germ cells tumors 10.2
28 paraplegia 10.2
29 plp1-related disorders 10.2
30 head injury 10.2
31 leiomyoma, uterine 10.1
32 leiomyoma 10.1
33 endodermal sinus tumor 10.1
34 testicular yolk sac tumor 10.1
35 bicornuate uterus 10.1
36 steroid inherited metabolic disorder 10.1 NR5A1 AMH
37 sex cord-gonadal stromal tumor 10.1 NR5A1 AMHR2 AMH
38 juvenile type testicular granulosa cell tumor 10.1 BMPR1B AMH
39 jejunal atresia 10.0
40 46,xy sex reversal 3 10.0
41 autosomal recessive disease 10.0
42 hydronephrosis 10.0
43 endometriosis of ovary 10.0
44 azoospermia 10.0
45 endometriosis 10.0
46 teratoma 10.0
47 sertoli cell tumor 10.0
48 urinary tract obstruction 10.0
49 hydrocele 10.0
50 47,xyy 10.0

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:

# 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

MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 AMH AMHR2 BMPR1B INSL3 NR5A1 SOX9
2 reproductive system MP:0005389 9.23 AMH AMHR2 BMPR1B INSL3 NR5A1 SOX9

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Sertraline Approved Phase 4 79617-96-2 68617
2 Neurotransmitter Agents Phase 4
3 Serotonin Uptake Inhibitors Phase 4
4 Psychotropic Drugs Phase 4
5 Serotonin Agents Phase 4
6 Antidepressive Agents Phase 4
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
9 Antimalarials
10 Anti-Infective Agents
11 Antiparasitic Agents
12 Antiprotozoal Agents
13 Artemisinine
14 Artemisinins
15 Retinol palmitate
16 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:

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 439)
# Title Authors PMID Year
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases. 61 52
28528332 2017
Oral potentially malignant disorders: clinical diagnosis and current screening aids: a narrative review. 61
30921006 2020
Fundamentals of cross-seeding of amyloid proteins: an introduction. 61
31647489 2019
Cerebral Amyloid Angiopathy, Alzheimer's Disease and MicroRNA: miRNA as Diagnostic Biomarkers and Potential Therapeutic Targets. 61
31586276 2019
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 2019
Persistent Mü̈llerian duct syndrome in a beluga whale Delphinapterus leucas. 61
31724560 2019
AMH and AMHR2 mutations: A spectrum of reproductive phenotypes across vertebrate species. 61
31301298 2019
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
A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome. 61
31238341 2019
Random forest-based modelling to detect biomarkers for prostate cancer progression. 61
31640781 2019
Persistent Mullerian Duct Syndrome: A rare clinical entity. 61
31719745 2019
Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype. 61
31184456 2019
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
Evaluation of Treatment Response in Prostate Cancer and Renal Cell Carcinoma Patients Using 11C-choline PET/CT Findings. 61
31439957 2019
Injury patterns associated with personal mobility devices and electric bicycles: an analysis from an acute general hospital in Singapore. 61
31363783 2019
Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report. 61
31080737 2019
Keep an eye on your personal belongings! The security of personal medical devices and their ecosystems. 61
31201966 2019
Comparison of different stains in exfoliated oral mucosal cell micronucleus of potentially malignant disorders of oral cavity. 61
31169229 2019
The price of personal mobility: burden of injury and mortality from personal mobility devices in Singapore - a nationwide cohort study. 61
31272425 2019
Rapidly responsive smart adhesive-coated micropillars utilizing catechol-boronate complexation chemistry. 61
31237299 2019
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
Probabilistic controllability approach to metabolic fluxes in normal and cancer tissues. 61
31221963 2019
Paroxysmal Movement Disorders: Recent Advances. 61
31187296 2019
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
Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog. 61
31241703 2019
A unique case of aggressive uterine cancer in a 45-year-old man with persistent Müllerian duct syndrome. 61
31070141 2019
Evaluation of candidal species among individuals with oral potentially malignant disorders and oral squamous cell carcinoma. 61
31516244 2019
"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
Maternal-biased H3K27me3 correlates with paternal-specific gene expression in the human morula. 61
30808660 2019
Partially methylated domains are hypervariable in breast cancer and fuel widespread CpG island hypermethylation. 61
30988298 2019
Utility of DNA-Specific Stains in Micronuclei Assay as a Marker of Genotoxicity in Oral Potentially Malignant Disorders and Oral Squamous Cell Carcinoma. 61
30992647 2019
Hysterectomy in a Male! Rare Stigma of a Case of Persistent Mullerian Duct Syndrome. 61
30956499 2019
Another oral cancer clinical guideline - but does it propose changes to dental practice? 61
30903116 2019
Structure/reaction directed analysis for LC-MS based untargeted analysis. 61
30661584 2019
Regulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility. 61
30381580 2019
Persistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report. 61
31477947 2019
Attitudes is the most important environmental factor for use of powered mobility devices - users' perspectives. 61
30856033 2019
Paroxysmal movement disorders: Recent advances and proposal of a classification system. 61
30902529 2019
Integrative single-cell analysis of transcriptome, DNA methylome and chromatin accessibility in mouse oocytes. 61
30560925 2019
Persistent mullerian duct syndrome with mixed germ cell tumor of undescended testis: A case report. 61
30706895 2019
Transvers testicular ectopia: A case report and literature review. 61
31786469 2019
Universal Description of the Attoclock with Two-Color Corotating Circular Fields. 61
31012680 2019
Acute injuries resulting from accidents involving powered mobility devices (PMDs)-Development and outcomes of PMD-related accidents in Sweden. 61
31180723 2019
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome. 61
30933950 2019
Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan. 61
30881414 2019
Psychosocial dimensions of human milk sharing. 61
30592166 2018
Evidence for Polymeric Membrane Dressings as a Unique Dressing Subcategory, Using Pressure Ulcers as an Example. 61
30595968 2018
Transverse testicular ectopia associated with persistent Müllerian duct syndrome treated by transseptal orchiopexy: A case report. 61
30508918 2018
A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome 61
29687786 2018
Expression of P53 Protein and Ki-67 Antigen in Oral Leukoplakia with Different Histopathological Grades of Epithelial Dysplasia. 61
30596042 2018

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.146G>T (p.Ser49Ile)SNV Benign 518296 rs10407022 19:2249477-2249477 19:2249478-2249478
2 AMH NM_000479.5(AMH):c.1239T>A (p.Gly413=)SNV Benign 518297 rs7252789 19:2251512-2251512 19:2251513-2251513
3 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:

# 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 11.52 WNT7A BMPR1B AMH
3 10.76 NR5A1 BMPR1B
4 9.66 AMHR2 AMH

GO Terms for Persistent Mullerian Duct Syndrome

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 SRD5A2 SOX9 NR5A1 BMPR1B AMH
2 positive regulation of gene expression GO:0010628 9.87 WNT7A SOX9 NR5A1 AMH
3 cell-cell signaling GO:0007267 9.78 SRD5A2 INSL3 AMH
4 BMP signaling pathway GO:0030509 9.65 BMPR1B AMHR2 AMH
5 cartilage development GO:0051216 9.63 WNT7A SOX9 BMPR1B
6 dorsal/ventral pattern formation GO:0009953 9.6 WNT7A BMPR1B
7 positive regulation of epithelial cell migration GO:0010634 9.59 SOX9 INSL3
8 cellular response to BMP stimulus GO:0071773 9.58 SOX9 BMPR1B
9 female gonad development GO:0008585 9.56 NR5A1 AMHR2
10 positive regulation of chondrocyte differentiation GO:0032332 9.55 SOX9 BMPR1B
11 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.54 BMPR1B AMHR2
12 chondrocyte development GO:0002063 9.52 SOX9 BMPR1B
13 positive regulation of cartilage development GO:0061036 9.51 SOX9 BMPR1B
14 male sex determination GO:0030238 9.49 SOX9 NR5A1
15 male gonad development GO:0008584 9.46 SRD5A2 SOX9 NR5A1 AMHR2
16 positive regulation of male gonad development GO:2000020 9.43 SOX9 NR5A1
17 chondrocyte differentiation GO:0002062 9.43 WNT7A SOX9 BMPR1B
18 sex determination GO:0007530 9.4 NR5A1 AMH
19 endochondral bone morphogenesis GO:0060350 9.37 SOX9 BMPR1B
20 Mullerian duct regression GO:0001880 9.32 AMHR2 AMH
21 cartilage condensation GO:0001502 9.13 WNT7A SOX9 BMPR1B
22 sex differentiation GO:0007548 8.92 WNT7A SRD5A2 AMHR2 AMH

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.62 BMPR1B AMHR2

Sources for Persistent Mullerian Duct Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....