Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
PMDS
MCID: PRS049
MIFTS: 52

Persistent Mullerian Duct Syndrome (PMDS)

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Persistent Mullerian Duct Syndrome

About this section

MalaCards integrated aliases for Persistent Mullerian Duct Syndrome:

Name: Persistent Mullerian Duct Syndrome 12 36 29 6 44 15
Persistent Müllerian Duct Syndrome 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:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Cancer diseases
Anatomical: Endocrine diseases Reproductive diseases Blood diseases
See all MalaCards categories (disease lists)


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 71 C1849930
Sources

Summaries for Persistent Mullerian Duct Syndrome

About this section
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 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.

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

Sources

Related Diseases for Persistent Mullerian Duct Syndrome

About this section

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 104)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome, types i and ii 33.4 AMHR2 AMH
2 inguinal hernia 31.5 WT1 INSL3 AMHR2 AMH
3 infertility 30.5 RXFP2 NR5A1 INSL3 BMP15
4 testicular torsion 30.0 RXFP2 INSL3
5 hypospadias 30.0 WT1 SRD5A2 SOX9 RXFP2 NR5A1 INSL3
6 hypogonadotropic hypogonadism 29.8 NR5A1 NR0B1 INSL3 AMH
7 pseudohermaphroditism 29.6 WT1 WNT4 SRD5A2 SOX9 NR5A1 NR0B1
8 hermaphroditism 29.3 WNT4 SRD5A2 SOX9 NR0B1 DMRT1 AMHR2
9 cryptorchidism, unilateral or bilateral 29.3 WT1 SRD5A2 SOX9 RXFP2 NR5A1 NR0B1
10 disorder of sexual development 28.0 WT1 WNT4 SRD5A2 SOX9 RXFP2 NR5A1
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 10.2 BMP15 AMHR2 AMH
18 ovarian sex-cord stromal tumor 10.2 WT1 NR5A1
19 autosomal recessive disease 10.2
20 germ cells tumors 10.2
21 ovarian serous adenofibroma 10.2 WNT4 AMH
22 blepharophimosis, ptosis, and epicanthus inversus 10.2 SOX9 NR5A1 BMP15
23 ovarian serous cystadenofibroma 10.2 WNT4 AMH
24 leiomyoma, uterine 10.2
25 leiomyoma 10.2
26 endodermal sinus tumor 10.2
27 testicular yolk sac tumor 10.2
28 bicornuate uterus 10.2
29 adrenal rest tumor 10.2 NR5A1 INSL3 HSD17B3
30 ovarian benign neoplasm 10.2 WT1 AMH
31 frasier syndrome 10.2 WT1 SOX9 NR5A1
32 mixed gonadal dysgenesis 10.2 SOX9 NR5A1 AMHR2 AMH
33 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.2 BMPR1A ACVR1
34 benign struma ovarii 10.1 WT1 AMH
35 chromosome 10q23 deletion syndrome 10.1 BMPR1B BMPR1A
36 46,xy sex reversal 9 10.1 WT1 SOX9 NR5A1 AMH
37 pulmonary arterial hypertension associated with congenital heart disease 10.1 BMPR1B BMPR1A
38 seminal vesicle adenocarcinoma 10.1 WT1 INSL3
39 amenorrhea 10.1 WNT4 NR5A1 BMP15
40 synostoses, tarsal, carpal, and digital 10.1 BMPR1B ACVR1
41 juvenile type testicular granulosa cell tumor 10.1 WT1 BMPR1B
42 testicular granulosa cell tumor 10.1 WT1 BMPR1B
43 freemartinism 10.1 HSD17B3 GRPEL2 AMH
44 jejunal atresia 10.1
45 46,xy sex reversal 3 10.1
46 hydronephrosis 10.1
47 endometriosis of ovary 10.1
48 azoospermia 10.1
49 endometriosis 10.1
50 teratoma 10.1

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



Diseases related to Persistent Mullerian Duct Syndrome
Sources

Symptoms & Phenotypes for Persistent Mullerian Duct Syndrome

About this section

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 10.22 AMH AMHR2 BMP15 BMPR1A BMPR1B DMRT1
2 embryo MP:0005380 10.07 ACVR1 AMHR2 BMPR1A BMPR1B NR5A1 POR
3 reproductive system MP:0005389 9.86 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
Sources

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

About this section

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

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

Interventional clinical trials:

(show all 20)
# 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 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
4 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
5 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
6 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
7 Forceps vs Vacuum. Rate of Levator Ani Muscle Avulsion: Clinical Trial. Unknown status NCT03683264
8 Performance Assessment of the Physiological Monitor Device (PMD-200), a Novel Pain Monitor, in Subjects at Neurointensive Care Unit (NICU). Unknown status NCT03452163
9 Assessment of Pain in Surgical Patient by PMD 200 Unknown status NCT03252301
10 Comparison Trial Between Two Repellent Products and a Positive Control Against Culicoides Nubeculosus Midges Completed NCT04028180
11 Performance Assessment of the PMD-200 in Subjects Requiring Surgery Under General Anesthesia Completed NCT03467230
12 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
13 The Impact of Patient Motivational Dialogue (PMD) on Patient Self-advocacy for Hand Hygiene: A Feasibility Study Completed NCT04360057
14 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
15 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
16 Performance Assessment of the Physiological Monitoring Device - PMD-200 - in Subjects Requiring Surgery Under General Anesthesia Recruiting NCT03466138
17 Performance Assessment of the PMD-200 (Physiological Monitor Device), a Novel Pain Monitor, in Subjects With Degenerative Lumbar Spine Disease Who Requires Surgical Procedure Recruiting NCT03389048
18 Impact of Nociceptive-Level (NOL) Intraoperative Guided Fentanyl Analgesia Versus Standard Clinical Care (SCC) for Elective Major Abdominal Surgery Recruiting NCT03970291
19 Comparison of the Nociception Monitoring Devices During Cardiac Surgery. Not yet recruiting NCT04712773
20 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

Sources

Genetic Tests for Persistent Mullerian Duct Syndrome

About this section

Genetic tests related to Persistent Mullerian Duct Syndrome:

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

Anatomical Context for Persistent Mullerian Duct Syndrome

About this section

MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

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

Publications for Persistent Mullerian Duct Syndrome

About this section

Articles related to Persistent Mullerian Duct Syndrome:

(show top 50) (show all 502)
# 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
DNAzymes as key components of biosensing systems for the detection of biological targets. 61
33477029 2021
3
The effects of postmortem delay on mouse and human microglia gene expression. 61
33296111 2021
4
Diagnostic approach to paediatric movement disorders: a clinical practice guide. 61
33150968 2021
5
Characteristics of injuries according to types of personal mobility devices in a multicenter emergency department from 2011 to 2017: A cross-sectional study. 61
33578587 2021
6
A model to enhance job satisfaction for radiographers in the public healthcare system in Gauteng province, South Africa. 61
32713822 2021
7
Religiosity and Spirituality in the Stages of Recovery From Persistent Mental Disorders. 61
33235180 2021
8
Clinicopathological Features Associated with Fluorescence Alteration: Analysis of 108 Oral Malignant and Potentially Malignant Lesions. 61
33332238 2021
9
Dietary patterns, food groups and nutrients in Crohn's disease: associations with gut and systemic inflammation. 61
33462267 2021
10
Screening for oral cancer utilising risk-factor analysis is ineffective in high-risk populations. 61
33248802 2021
11
Applying planned missingness designs to longitudinal panel studies in developmental science: An overview. 61
33470035 2021
12
Pubertal development and risk of premenstrual disorders in young adulthood. 61
33289027 2021
13
Saliva as a Potential Diagnostic Tool to Evaluate Relationship between Oral Microbiome and Potentially Malignant Disorders for Prevention of Malignant Transformation. 61
33507689 2021
14
Conformal Avoidance of Normal Organs at Risk by Perfusion-Modulated Dose Sculpting in Tumor Single-Dose Radiation Therapy. 61
32777335 2021
15
Transverse testicular ectopia associated with persistent Mullerian duct syndrome in infertile male: two case reports and literature review. 61
33532339 2021
16
30 Years of Translational Mobility Medicine: 2020 Padua Muscle Days go virtual from Euganean Hills, November 19th to 21st. 61
33520146 2020
17
Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports. 61
33256838 2020
18
Predicting substitutions to modulate disorder and stability in coiled-coils. 61
33349244 2020
19
α-Synuclein promotes IAPP fibril formation in vitro and β-cell amyloid formation in vivo in mice. 61
33235246 2020
20
Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings. 61
33136487 2020
21
A Quality Improvement Project Comparing Two Treatments for Deep-Tissue Pressure Injuries to Feet and Lower Legs of Long-term Care Residents. 61
33065681 2020
22
Persistant Mullerian duct syndrome with intra-abdominal seminoma. 61
33102043 2020
23
Efficacy of Visual Retraining in the Hemianopic Field after Stroke: Results of a Randomized Clinical Trial. 61
33242498 2020
24
The altered transcriptome of pediatric myelodysplastic syndrome revealed by RNA sequencing. 61
33046098 2020
25
Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders. 61
33016339 2020
26
Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families. 61
33025551 2020
27
Characterization of universal features of partially methylated domains across tissues and species. 61
33008446 2020
28
A case of persistent Mullerian duct syndrome in a dog. 61
33034383 2020
29
Effects of Alterations of Post-Mortem Delay and Other Tissue-Collection Variables on Metabolite Levels in Human and Rat Brain. 61
33138273 2020
30
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery. 61
33006762 2020
31
Treatment of Disorders of Tone and Other Considerations in Pediatric Movement Disorders. 61
33410106 2020
32
Investigation of electron vortices in time-delayed circularly polarized laser pulses with a semiclassical perspective. 61
33114844 2020
33
Structural analysis of pulsed magnets considering interface characteristics. 61
32872910 2020
34
Comparative whole genome DNA methylation profiling across cattle tissues reveals global and tissue-specific methylation patterns. 61
32631327 2020
35
Persistent Mullerian duct syndrome: rare presentation in an elderly man. 61
32675118 2020
36
Transverse testicular ectopia with Müllerian duct remnant in an incarcerated congenital inguinal hernia - a case report. 61
32731851 2020
37
Evaluation of Salivary Lactate Dehydrogenase as a Prognostic Biomarker in Tobacco Users with and without Potentially Malignant Disorders of the Oral Cavity. 61
33354552 2020
38
Detection and Treatment of Persistent Mullerian Duct Syndrome With Transverse Testicular Ectopia. 61
32199871 2020
39
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles. 61
32522805 2020
40
A Simplified Management of Transverse Testicular Ectopia in Patients with Persistent Mullerian Duct Syndrome. 61
32478403 2020
41
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias. 61
32443735 2020
42
The effect of antithrombotic therapy on the recurrence of placenta-mediated diseases in pregnancy. 61
32403962 2020
43
Attitudes is the most important environmental factor for use of powered mobility devices - users' perspectives. 61
30856033 2020
44
[Functional movement disorders in children and adolescents]. 61
32434652 2020
45
Robot-assisted hysterectomy in a 41-year-old male: A rare case report. 61
32042594 2020
46
Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge. 61
32187366 2020
47
Non-polyphenolic natural inhibitors of amyloid aggregation. 61
32172082 2020
48
Influence of Cognitive Functioning on Powered Mobility Device Use: Protocol for a Systematic Review. 61
32209537 2020
49
Single-Cell Response to the Rigidity of Semiconductor Nanomembranes on Compliant Substrates. 61
32027483 2020
50
Epidemiology and Outcome of Powered Mobility Device-Related Injuries in Korea. 61
32141250 2020
Sources

Variations for Persistent Mullerian Duct Syndrome

About this section

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.563G>A (p.Cys188Tyr) SNV Pathogenic 987678 19:2250658-2250658 19:2250659-2250659
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>T SNV Benign 522208 rs2071558 12:53819467-53819467 12:53425683-53425683
5 AMH NM_000479.5(AMH):c.974A>G (p.Gln325Arg) SNV Benign 381531 rs140765565 19:2251247-2251247 19:2251248-2251248
Sources

Expression for Persistent Mullerian Duct Syndrome

About this section
Search GEO for disease gene expression data for Persistent Mullerian Duct Syndrome.
Sources

Pathways for Persistent Mullerian Duct Syndrome

About this section

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
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.16 WNT7A WNT4 BMPR1B BMPR1A ACVR1
2
Mesodermal Commitment Pathway 1
Show member pathways
 12.15 MIR4321 BMPR1A AMH ACVR1
3
Hippo signaling pathway 36
11.85 WNT7A WNT4 BMPR1B BMPR1A AMH
4
Signaling pathways regulating pluripotency of stem cells 36
11.51 WNT7A WNT4 BMPR1B BMPR1A ACVR1
5
TGF-beta signaling pathway (KEGG) 36
10.99 BMPR1B BMPR1A AMHR2 AMH ACVR1
6
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.73 SRD5A2 HSD17B3
7
ALK2 signaling events 1
10.37 AMHR2 AMH ACVR1
Sources

GO Terms for Persistent Mullerian Duct Syndrome

About this section

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

Sources for Persistent Mullerian Duct Syndrome

About this section
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....