PMDS
MCID: PRS049
MIFTS: 51

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 36 29 6 44 15
Persistent Müllerian Duct Syndrome 73 20 43
Persistent Oviduct Syndrome 20 43
Pmds 20 43
Persistent Mullerian Duct Syndrome, Types 1 and 2 20
Female Genital Ducts in Otherwise Normal Male 20
Persistent Muellerian Duct Syndrome 12
Hernia Uteri Inguinale 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0050791
KEGG 36 H00609
MeSH 44 C536665
NCIt 50 C120188
SNOMED-CT 67 702358005
SNOMED-CT via HPO 68 111332007 204878001 396232000
UMLS 70 C1849930

Summaries for Persistent Mullerian Duct Syndrome

MedlinePlus Genetics : 43 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 müllerian duct syndrome, is related to persistent mullerian duct syndrome, types i and ii and inguinal hernia. 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 Mifepristone and Fentanyl 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.

GARD : 20 Persistent Mullerian duct syndrome (PMDS) is affects the development of the sexual organs in males. Males with PMDS have normal testes and normal male external genitals. However, they also have a uterus and fallopian tubes ( female reproductive organs ). Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias. The uterus and fallopian tubes are found by accident during surgery to treat these conditions. Other features of PMDS may include infertility and an increased risk for testicular cancer. PMDS occurs due to genetic variants in either the AMH gene (PMDS type 1) or AMHR2 gene (PMDS type 2). It is inherited in an autosomal recessive pattern. In some cases, the genetic cause is unknown. Diagnosis of PMDS is based on the symptoms, clinical exam, and imaging studies. The results of genetic testing may also be helpful for diagnosis. Treatment usually involves surgery to correct the undescended testes or inguinal hernia.

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 : 73 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 102)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome, types i and ii 33.4 MIR4321 AMHR2 AMH
2 inguinal hernia 31.6 WT1 INSL3 AMHR2 AMH
3 testicular torsion 30.6 RXFP2 INSL3 AMH
4 hypospadias 30.3 WT1 SRD5A2 SOX9 RXFP2 NR5A1 INSL3
5 infertility 30.2 RXFP2 NR5A1 INSL3 BMPR1B BMP15 AMH
6 hypogonadotropic hypogonadism 30.2 NR5A1 NR0B1 INSL3 AMH
7 pseudohermaphroditism 30.2 WT1 WNT4 SRD5A2 SOX9 RXFP2 NR5A1
8 cryptorchidism, unilateral or bilateral 30.2 WT1 SRD5A2 SOX9 RXFP2 NR5A1 NR0B1
9 hermaphroditism 30.1 WNT4 SRD5A2 SOX9 NR0B1 DMRT1 AMHR2
10 disorder of sexual development 28.8 WT1 WNT4 SRD5A2 SOX9 RXFP2 POR
11 seminoma 10.6
12 testicular seminoma 10.4
13 testicular cancer 10.4
14 ovarian large-cell neuroendocrine carcinoma 10.3 WT1 AMH
15 microcystic stromal tumor 10.3 WT1 NR5A1
16 anorchia 10.3 RXFP2 NR5A1 INSL3
17 anovulation 10.3 BMP15 AMHR2 AMH
18 adrenal rest tumor 10.3 NR5A1 INSL3 HSD17B3
19 ovarian serous adenofibroma 10.3 WNT4 AMH
20 frasier syndrome 10.3 WT1 SOX9 NR5A1
21 ovarian sex-cord stromal tumor 10.3 WT1 NR5A1
22 ovarian serous cystadenofibroma 10.3 WNT4 AMH
23 mixed gonadal dysgenesis 10.2 SOX9 NR5A1 AMHR2 AMH
24 chromosome 10q23 deletion syndrome 10.2 BMPR1B BMPR1A
25 synostoses, tarsal, carpal, and digital 10.2 BMPR1B ACVR1
26 pulmonary arterial hypertension associated with congenital heart disease 10.2 BMPR1B BMPR1A
27 autosomal recessive disease 10.2
28 germ cells tumors 10.2
29 freemartinism 10.2 HSD17B3 GRPEL2 AMH
30 ovarian benign neoplasm 10.2 WT1 AMH
31 juvenile type testicular granulosa cell tumor 10.2 WT1 BMPR1B
32 46,xy sex reversal 9 10.2 WT1 SOX9 NR5A1 AMH
33 testicular granulosa cell tumor 10.2 WT1 BMPR1B
34 leiomyoma, uterine 10.2
35 leiomyoma 10.2
36 endodermal sinus tumor 10.2
37 testicular yolk sac tumor 10.2
38 bicornuate uterus 10.2
39 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.2 BMPR1A ACVR1
40 cortisone reductase deficiency 10.2 SRD5A2 POR HSD17B3
41 leydig cell tumor 10.2 NR5A1 NR0B1 INSL3
42 mayer-rokitansky-kuster-hauser syndrome 10.2 WT1 WNT7A WNT4
43 brachydactyly, type a1, b 10.2 BMPR1B BMPR1A ACVR1
44 spermatogenic failure 8 10.2 NR5A1 DMRT1
45 benign struma ovarii 10.2 WT1 AMH
46 denys-drash syndrome 10.2 WT1 NR5A1 NR0B1
47 mullerian aplasia and hyperandrogenism 10.2 WNT7A WNT4 MIR4321 AMH
48 brachydactyly, type a2 10.2 BMPR1B BMPR1A ACVR1
49 fibrodysplasia ossificans progressiva 10.1 BMPR1B BMPR1A ACVR1
50 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.1 WT1 NR5A1 DMRT1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.25 AMH AMHR2 BMP15 BMPR1A BMPR1B DMRT1
2 embryo MP:0005380 10.07 ACVR1 AMHR2 BMPR1A BMPR1B NR5A1 POR
3 reproductive system MP:0005389 9.89 AMH AMHR2 BMP15 BMPR1A BMPR1B DMRT1
4 limbs/digits/tail MP:0005371 9.8 ACVR1 BMPR1A BMPR1B POR SOX9 WNT4
5 neoplasm MP:0002006 9.7 ACVR1 AMH AMHR2 BMPR1A NR0B1 RXFP2
6 skeleton MP:0005390 9.28 ACVR1 BMPR1A BMPR1B INSL3 NR0B1 RXFP2

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mifepristone Approved, Investigational Phase 3 84371-65-3 55245
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
3 Contraceptive Agents Phase 3
4 Contraceptives, Postcoital Phase 3
5 Antidepressive Agents Phase 3
6 Contraceptives, Oral Phase 3
7 Narcotics Phase 3
8 Anesthetics, General Phase 3
9 Anesthetics, Intravenous Phase 3
10 Analgesics Phase 3
11 Analgesics, Opioid Phase 3
12
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
13
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
14
Gemcitabine Approved Phase 2 95058-81-4 60750
15 Hormone Antagonists Phase 2
16 Hormones Phase 2
17 Gastrointestinal Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Antiemetics Phase 2
20 glucocorticoids Phase 2
21 Antiviral Agents Phase 2
22 Alkylating Agents Phase 2
23 Antineoplastic Agents, Hormonal Phase 2
24 Anti-Inflammatory Agents Phase 2
25 Anti-Infective Agents Phase 2
26 Bendamustine Hydrochloride Phase 2
27 Antimetabolites Phase 2
28 Immunologic Factors Phase 2
29 Insect Repellents
30 Protective Agents
31 Eucalyptus
32 Anesthetics

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study of the Safety and Efficacy of Three Dose Levels of CORLUX™ (Mifepristone) Plus an Antidepressant vs. Placebo Plus an Antidepressant in the Treatment of Psychotic Symptoms in Patients With Major Depressive Disorder With Psychotic Features (PMD) Completed NCT00128479 Phase 3 mifepristone;mifepristone matched placebo;mifepristone 600 mg;mifepristone 1200 mg
2 An International, Double-Blind, Placebo-Controlled, Study of the Efficacy and Safety of CORLUX™ (Mifepristone) vs. Placebo in the Treatment of Psychotic Symptoms in Patients With Psychotic Major Depression (PMD) Completed NCT00146523 Phase 3 Mifepristone;placebo
3 Postoperative Consequences of Intraoperative NOL Titration Recruiting NCT04679818 Phase 3 Routine opioid management
4 The Efficacy of Bendamustine, Gemcytabine, Dexamethasone (BGD) Salvage Chemotherapy With Autologous Stem Cell Transplantation (ASCT) Consolidation in Advanced Classical Hodgkin Lymphoma Patients Not Responding to ABVD Therapy- Multicentre Phase II Clinical Study (PLRG-HL1/BURGUND) Recruiting NCT03615664 Phase 2 Bendamustine;Gemcitabine;Dexamethasone
5 A Multicenter, Open-Label Phase 2 Extension Trial to Characterize the Long-term Safety and Tolerability of Subcutaneous Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) Terminated NCT02976038 Phase 2 elamipretide
6 Phase I Study of the Safety and Preliminary Efficacy of Intracerebral Transplantation of HuCNS-SC® Cells for Connatal Pelizaeus-Merzbacher Disease (PMD) Completed NCT01005004 Phase 1
7 Phase 1/1b Multicenter, Open-Label, First-in-Human Dose Escalation and Dose Expansion Study to Assess Safety and Tolerability of Orally Administered PMD-026 in Patients With Metastatic Breast Cancer With Expansion in Metastatic Triple Negative Breast Cancer Recruiting NCT04115306 Phase 1 PMD-026
8 Forceps vs Vacuum. Rate of Levator Ani Muscle Avulsion: Clinical Trial. Unknown status NCT03683264
9 Performance Assessment of the PMD-200 (Physiological Monitor Device), a Novel Pain Monitor, in Subjects With Degenerative Lumbar Spine Disease Who Requires Surgical Procedure Unknown status NCT03389048
10 Performance Assessment of the Physiological Monitor Device (PMD-200), a Novel Pain Monitor, in Subjects at Neurointensive Care Unit (NICU). Unknown status NCT03452163
11 Assessment of Pain in Surgical Patient by PMD 200 Unknown status NCT03252301
12 Comparison Trial Between Two Repellent Products and a Positive Control Against Culicoides Nubeculosus Midges Completed NCT04028180
13 Performance Assessment of the PMD-200 in Subjects Requiring Surgery Under General Anesthesia Completed NCT03467230
14 Long-Term Follow-Up Safety and Preliminary Efficacy Study of Human Central Nervous System Stem Cell (HuCNS-SC®) Transplantation in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD) Completed NCT01391637
15 The Impact of Patient Motivational Dialogue (PMD) on Patient Self-advocacy for Hand Hygiene: A Feasibility Study Completed NCT04360057
16 A Single Group Trial to Determine the Complete Protection Time of an Insect Repellent Formulation Containing 30% Citriodiol® (Oil of Lemon Eucalyptus) Against Three Species of Ticks. Completed NCT03708120
17 Evaluation of NoL Index Variations After a Painful Stimulus Before and After a Stellate Ganglion Block in Patients With Upper Extremity Complex Regional Pain Syndrome: a Pilot Study Completed NCT03317782
18 Performance Assessment of the Physiological Monitoring Device - PMD-200 - in Subjects Requiring Surgery Under General Anesthesia Recruiting NCT03466138
19 Impact of Nociceptive-Level (NOL) Intraoperative Guided Fentanyl Analgesia Versus Standard Clinical Care (SCC) for Elective Major Abdominal Surgery Recruiting NCT03970291
20 Comparison of the Nociception Monitoring Devices During Cardiac Surgery. Recruiting NCT04712773
21 Evaluation of Medasense's PMD-200 During Surgery and Post Anesthesia Care Terminated NCT03276260

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, Breast, Pancreas, Heart

Publications for Persistent Mullerian Duct Syndrome

Articles related to Persistent Mullerian Duct Syndrome:

(show top 50) (show all 329)
# Title Authors PMID Year
1
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases. 61 20
28528332 2017
2
A case of persistent Mullerian duct syndrome in a dog. 61
33034383 2021
3
Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant. 61
33787423 2021
4
Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings. 61
33691324 2021
5
Transverse testicular ectopia associated with persistent Mullerian duct syndrome in infertile male: two case reports and literature review. 61
33532339 2021
6
Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports. 61
33256838 2020
7
Persistant Mullerian duct syndrome with intra-abdominal seminoma. 61
33102043 2020
8
Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families. 61
33025551 2020
9
Persistent Mullerian duct syndrome: rare presentation in an elderly man. 61
32675118 2020
10
Detection and Treatment of Persistent Mullerian Duct Syndrome With Transverse Testicular Ectopia. 61
32199871 2020
11
A Simplified Management of Transverse Testicular Ectopia in Patients with Persistent Mullerian Duct Syndrome. 61
32478403 2020
12
Robot-assisted hysterectomy in a 41-year-old male: A rare case report. 61
32042594 2020
13
Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge. 61
32187366 2020
14
Cystoscopy and mucosectomy: Essentials in the management of persistent müllerian duct syndrome with transverse testicular ectopia. 61
32240113 2020
15
A rare case report of bilateral recurrent inguinal hernia due to persistent Müllerian duct syndrome treated by transabdominal preperitoneal repair. 61
32049810 2020
16
Crossed testicular ectopia: Case report with review of literature. 61
32966926 2020
17
A Case of Adenocarcinoma of Uterus Masculinus in a Pomeranian Dog. 61
32613012 2020
18
Hypofertility in a persistence of mullerian duct syndrome: Case report. 61
33395894 2020
19
What Does AMH Tell Us in Pediatric Disorders of Sex Development? 61
33013698 2020
20
Transverse testicular ectopia with persistent Mullerian duct syndrome: an operative eureka. 61
32492648 2020
21
Robot-Assisted Laparoscopic Management of Persistent Mullerian Duct Structures in a Male Infant: A Novel Technique. 61
32775671 2020
22
Female form of persistent Müllerian duct syndrome: A rare case report and review of literature. 61
33190105 2020
23
AMH and AMHR2 mutations: A spectrum of reproductive phenotypes across vertebrate species. 61
31301298 2019
24
A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome. 61
31238341 2019
25
Persistent Mullerian Duct Syndrome: A rare clinical entity. 61
31719745 2019
26
Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype. 61
31184456 2019
27
Cancer on cryptorchid testis revealing a Persistent Müllerian Duct Syndrome: A rare case. 61
31384563 2019
28
Persistent Müllerian duct syndrome: an update. 61
32172781 2019
29
Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report. 61
31080737 2019
30
Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog. 61
31241703 2019
31
A unique case of aggressive uterine cancer in a 45-year-old man with persistent Müllerian duct syndrome. 61
31070141 2019
32
Pure Seminoma and Concurrent Aggressive Lymphoma: Case Report of a Patient With Persistent Müllerian Duct Syndrome. 61
30587405 2019
33
An unusual case of undescended testis: type II persistent Müllerian duct syndrome. 61
30853106 2019
34
Hysterectomy in a Male! Rare Stigma of a Case of Persistent Mullerian Duct Syndrome. 61
30956499 2019
35
Persistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report. 61
31477947 2019
36
Regulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility. 61
30381580 2019
37
Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan. 61
30881414 2019
38
Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism. 61
32961540 2019
39
Persistent mullerian duct syndrome with mixed germ cell tumor of undescended testis: A case report. 61
30706895 2019
40
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome. 61
30933950 2019
41
Transvers testicular ectopia: A case report and literature review. 61
31786469 2019
42
Transverse testicular ectopia associated with persistent Müllerian duct syndrome treated by transseptal orchiopexy: A case report. 61
30508918 2018
43
A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome 61
29687786 2018
44
Persistent Mullerian duct syndrome: Report of two cases with phenotypical immunohistochemical profiling. 61
30426882 2018
45
Persistent Mullerian Duct Syndrome: A Single-Center Experience. 61
30443115 2018
46
Persistent Müllerian Duct Syndrome in a German Shepherd Dog. 61
30086548 2018
47
Persistent Mullerian Duct Syndrome with Testicular Seminoma in Transverse Testicular Ectopia. 61
30568363 2018
48
Sertoli Cell Tumour and Uterine Leiomyoma in Miniature Schnauzer Dogs with Persistent Müllerian Duct Syndrome Caused by Mutation in the AMHR2 Gene. 61
30173854 2018
49
Robotic removal of Müllerian duct remnants in pediatric patients: our experience and a review of the literature. 61
29871477 2018
50
Prostatic adenocarcinoma in the setting of persistent müllerian duct syndrome: a case report. 61
29137935 2018

Variations for Persistent Mullerian Duct Syndrome

ClinVar genetic disease variations for Persistent Mullerian Duct Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMH , MIR4321 NM_000479.5(AMH):c.563G>A (p.Cys188Tyr) SNV Pathogenic 987678 GRCh37: 19:2250658-2250658
GRCh38: 19:2250659-2250659
2 AMH NM_000479.5(AMH):c.250del (p.Leu84fs) Deletion Pathogenic 1031587 GRCh37: 19:2249580-2249580
GRCh38: 19:2249581-2249581
3 AMHR2 NM_020547.3(AMHR2):c.233-1G>A SNV Pathogenic 1033536 GRCh37: 12:53818492-53818492
GRCh38: 12:53424708-53424708
4 AMH NM_000479.5(AMH):c.146G>T (p.Ser49Ile) SNV Benign 518296 rs10407022 GRCh37: 19:2249477-2249477
GRCh38: 19:2249478-2249478
5 AMH NM_000479.5(AMH):c.1239T>A (p.Gly413=) SNV Benign 518297 rs7252789 GRCh37: 19:2251512-2251512
GRCh38: 19:2251513-2251513
6 AMHR2 NM_020547.3(AMHR2):c.622-6C>T SNV Benign 522208 rs2071558 GRCh37: 12:53819467-53819467
GRCh38: 12:53425683-53425683
7 AMH NM_000479.5(AMH):c.974A>G (p.Gln325Arg) SNV Benign 381531 rs140765565 GRCh37: 19:2251247-2251247
GRCh38: 19:2251248-2251248

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
12.16 WNT7A WNT4 BMPR1B BMPR1A ACVR1
2
Show member pathways
12.15 MIR4321 BMPR1A AMH ACVR1
3 11.85 WNT7A WNT4 BMPR1B BMPR1A AMH
4 11.51 WNT7A WNT4 BMPR1B BMPR1A ACVR1
5 10.99 BMPR1B BMPR1A AMHR2 AMH ACVR1
6
Show member pathways
10.73 SRD5A2 HSD17B3
7 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 top 50) (show all 53)
# 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 positive regulation of transcription, DNA-templated GO:0045893 10.16 WT1 WNT7A WNT4 SOX9 NR5A1 BMP15
3 cell differentiation GO:0030154 10.13 WNT4 SRD5A2 SOX9 NR5A1 NR0B1 DMRT1
4 negative regulation of apoptotic process GO:0043066 10.1 WT1 WNT7A SOX9 RXFP2 POR
5 positive regulation of gene expression GO:0010628 10.09 WT1 WNT7A SOX9 NR5A1 AMH
6 heart development GO:0007507 9.99 WT1 SOX9 BMPR1A ACVR1
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.88 BMPR1A AMHR2 ACVR1
8 cartilage development GO:0051216 9.88 WNT7A SOX9 BMPR1B BMPR1A
9 positive regulation of osteoblast differentiation GO:0045669 9.88 WNT4 BMPR1B BMPR1A ACVR1
10 cellular response to growth factor stimulus GO:0071363 9.87 BMPR1B BMPR1A AMHR2 ACVR1
11 cell fate commitment GO:0045165 9.86 WNT7A WNT4 SOX9
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.85 WNT7A WNT4 SOX9
13 chondrocyte differentiation GO:0002062 9.85 WNT7A SOX9 BMPR1B BMPR1A
14 dorsal/ventral pattern formation GO:0009953 9.84 WNT7A BMPR1B BMPR1A ACVR1
15 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.83 BMPR1A BMP15 ACVR1
16 branching involved in ureteric bud morphogenesis GO:0001658 9.82 WT1 WNT4 SOX9
17 germ cell development GO:0007281 9.82 WT1 DMRT1 ACVR1
18 cellular response to BMP stimulus GO:0071773 9.81 SOX9 BMPR1B BMPR1A ACVR1
19 female gonad development GO:0008585 9.8 WNT4 NR5A1 AMHR2
20 positive regulation of bone mineralization GO:0030501 9.8 WNT4 BMPR1B BMPR1A ACVR1
21 cartilage condensation GO:0001502 9.79 WNT7A SOX9 BMPR1B
22 positive regulation of chondrocyte differentiation GO:0032332 9.78 SOX9 POR BMPR1B
23 male genitalia development GO:0030539 9.77 WT1 SRD5A2 HSD17B3
24 endocardial cushion morphogenesis GO:0003203 9.77 SOX9 BMPR1A ACVR1
25 gonad development GO:0008406 9.73 WT1 NR0B1 AMH
26 adrenal gland development GO:0030325 9.73 WT1 WNT4 NR5A1 NR0B1
27 BMP signaling pathway GO:0030509 9.73 BMPR1B BMPR1A BMP15 AMHR2 AMH ACVR1
28 activin receptor signaling pathway GO:0032924 9.71 AMHR2 ACVR1
29 chondrocyte development GO:0002063 9.71 SOX9 BMPR1B
30 positive regulation of cartilage development GO:0061036 9.71 SOX9 BMPR1B
31 smooth muscle cell differentiation GO:0051145 9.71 WNT4 ACVR1
32 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.71 BMPR1B BMPR1A AMHR2 ACVR1
33 oocyte development GO:0048599 9.7 WNT4 DMRT1
34 hormone metabolic process GO:0042445 9.7 WNT4 NR5A1
35 Sertoli cell differentiation GO:0060008 9.7 SOX9 NR0B1 DMRT1
36 androgen biosynthetic process GO:0006702 9.69 SRD5A2 HSD17B3
37 mesenchymal to epithelial transition GO:0060231 9.69 WT1 WNT4
38 cellular response to gonadotropin stimulus GO:0071371 9.68 WT1 POR
39 Sertoli cell development GO:0060009 9.68 SOX9 DMRT1
40 mitral valve morphogenesis GO:0003183 9.68 BMPR1A ACVR1
41 BMP signaling pathway involved in heart development GO:0061312 9.67 BMPR1A ACVR1
42 negative regulation of steroid biosynthetic process GO:0010894 9.67 WNT4 NR0B1
43 male sex determination GO:0030238 9.67 SOX9 NR5A1 NR0B1 DMRT1
44 testosterone biosynthetic process GO:0061370 9.66 SRD5A2 HSD17B3
45 endochondral bone morphogenesis GO:0060350 9.66 SOX9 BMPR1B
46 cardiac muscle cell fate commitment GO:0060923 9.65 WT1 ACVR1
47 negative regulation of female gonad development GO:2000195 9.64 WT1 NR5A1
48 renal vesicle induction GO:0072034 9.63 WNT4 SOX9
49 Mullerian duct regression GO:0001880 9.63 BMPR1A AMHR2 AMH
50 positive regulation of male gonad development GO:2000020 9.62 WT1 SOX9 NR5A1 DMRT1

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

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.33 BMPR1B BMPR1A ACVR1
2 activin binding GO:0048185 9.26 AMHR2 ACVR1
3 transforming growth factor beta receptor activity, type I GO:0005025 9.13 BMPR1B BMPR1A ACVR1
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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