PMDS
MCID: PRS128
MIFTS: 43

Persistent Mullerian Duct Syndrome, Types I and Ii (PMDS)

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

Aliases & Classifications for Persistent Mullerian Duct Syndrome, Types I and Ii

MalaCards integrated aliases for Persistent Mullerian Duct Syndrome, Types I and Ii:

Name: Persistent Mullerian Duct Syndrome, Types I and Ii 57 6
Persistent Mullerian Duct Syndrome, Type I 57 29 13 6
Persistent Mullerian Duct Syndrome, Type Ii 57 29 6
Pmds 57 58
Mullerian Duct Syndrome. Persistent, Types I and Ii 39
Female Genital Ducts in Otherwise Normal Male 57
Persistent Muellerian Duct Syndrome Type Ii 72
Persistent Muellerian Duct Syndrome Type I 72
Persistent Muellerian Duct Syndrome 1 72
Persistent Muellerian Duct Syndrome 2 72
Pseudohermaphroditism, Male Internal 57
Persistent Mullerian Duct Syndrome 58
Persistent Mullerian Derivatives 58
Persistent Oviduct Syndrome 57
Hernia Uteri Inguinale 57
Pmds-1 72
Pmds-2 72
Pmds1 72
Pmds2 72

Characteristics:

Orphanet epidemiological data:

58
persistent mullerian duct syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive with male sex limitation


HPO:

31
persistent mullerian duct syndrome, types i and ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 261550
MESH via Orphanet 45 C536665
ICD10 via Orphanet 33 Q55.8
UMLS via Orphanet 71 C1849930
Orphanet 58 ORPHA2856
MedGen 41 C1849930

Summaries for Persistent Mullerian Duct Syndrome, Types I and Ii

UniProtKB/Swiss-Prot : 72 Persistent Muellerian duct syndrome 1: A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
Persistent Muellerian duct syndrome 2: A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.

MalaCards based summary : Persistent Mullerian Duct Syndrome, Types I and Ii, also known as persistent mullerian duct syndrome, type i, is related to persistent mullerian duct syndrome and disorder of sexual development. An important gene associated with Persistent Mullerian Duct Syndrome, Types I and Ii is AMH (Anti-Mullerian Hormone), and among its related pathways/superpathways are Mesodermal Commitment Pathway and TGF-beta signaling pathway (KEGG). The drugs Mifepristone and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include uterus, breast and testis, and related phenotypes are abnormality of male internal genitalia and male infertility

OMIM® : 57 The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by Knebelmann et al., 1991). (261550) (Updated 20-May-2021)

Related Diseases for Persistent Mullerian Duct Syndrome, Types I and Ii

Diseases in the Persistent Mullerian Duct Syndrome family:

Persistent Mullerian Duct Syndrome, Types I and Ii

Diseases related to Persistent Mullerian Duct Syndrome, Types I and Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome 31.7 MIR4321 AMHR2 AMH
2 disorder of sexual development 30.0 AMHR2 AMH
3 hermaphroditism 29.8 AMHR2 AMH
4 pseudohermaphroditism 29.7 AMHR2 AMH
5 cryptorchidism, unilateral or bilateral 29.5 AMHR2 AMH
6 inguinal hernia 29.3 AMHR2 AMH
7 hypospadias 10.3
8 autosomal recessive disease 10.2
9 infertility 10.2
10 germ cells tumors 10.2
11 azoospermia 10.2
12 jejunal atresia 10.1
13 46,xy sex reversal 3 10.1
14 hypogonadotropic hypogonadism 10.1
15 hydronephrosis 10.1
16 endometriosis of ovary 10.1
17 endometriosis 10.1
18 teratoma 10.1
19 sertoli cell tumor 10.1
20 urinary tract obstruction 10.1
21 hydrocele 10.1
22 47,xyy 10.1
23 mixed germ cell tumor 10.1
24 syndrome with 46,xy disorder of sex development 10.1
25 androgen insensitivity syndrome 10.0
26 complete androgen insensitivity syndrome 10.0
27 myelodysplastic syndrome 9.9
28 seminoma 9.9
29 testicular seminoma 9.9
30 head injury 9.9
31 mullerian aplasia and hyperandrogenism 9.9 MIR4321 AMH
32 mixed gonadal dysgenesis 9.7 AMHR2 AMH
33 gonadal dysgenesis 9.7 AMHR2 AMH
34 anovulation 9.7 AMHR2 AMH
35 46,xy sex reversal 9.6 AMHR2 AMH
36 ovarian disease 9.5 AMHR2 AMH
37 premature menopause 9.4 AMHR2 AMH

Graphical network of the top 20 diseases related to Persistent Mullerian Duct Syndrome, Types I and Ii:



Diseases related to Persistent Mullerian Duct Syndrome, Types I and Ii

Symptoms & Phenotypes for Persistent Mullerian Duct Syndrome, Types I and Ii

Human phenotypes related to Persistent Mullerian Duct Syndrome, Types I and Ii:

31 58 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of male internal genitalia 31 hallmark (90%) HP:0000022
2 male infertility 31 frequent (33%) HP:0003251
3 inguinal hernia 58 31 very rare (1%) Frequent (79-30%) HP:0000023
4 bilateral cryptorchidism 31 very rare (1%) HP:0008689
5 abnormal circulating hormone level 31 very rare (1%) HP:0003117
6 cryptorchidism 58 Very frequent (99-80%)
7 male pseudohermaphroditism 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G U:
bilateral cryptorchidism
normal penis

Lab:
antimullerian hormone (amh) defect
premature centromeric divisions and hypoploid counts

Abdomen:
inguinal hernias
inguinal uterus and fallopian tubes

Clinical features from OMIM®:

261550 (Updated 20-May-2021)

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome, Types I and Ii

Drugs for Persistent Mullerian Duct Syndrome, Types I and Ii (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, Types I and Ii

Genetic Tests for Persistent Mullerian Duct Syndrome, Types I and Ii

Genetic tests related to Persistent Mullerian Duct Syndrome, Types I and Ii:

# Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome, Type Ii 29
2 Persistent Mullerian Duct Syndrome, Type I 29

Anatomical Context for Persistent Mullerian Duct Syndrome, Types I and Ii

MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome, Types I and Ii:

40
Uterus, Breast, Testis, Testes, Ovary, Skin

Publications for Persistent Mullerian Duct Syndrome, Types I and Ii

Articles related to Persistent Mullerian Duct Syndrome, Types I and Ii:

(show all 22)
# Title Authors PMID Year
1
A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome. 57 6
11760020 2001
2
A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. 6 57
8872466 1996
3
Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor. 57 6
7493017 1995
4
Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome. 6 57
2023927 1991
5
Anti-Müllerian hormone in three intersex conditions. 57 6
1809231 1991
6
Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport. 6
19457927 2009
7
Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro. 6
11549681 2001
8
Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. 57
8162013 1994
9
H-Y (SDM) antibody specifically binds Müllerian inhibiting substance. 57
7686131 1993
10
Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family. 6
1483695 1992
11
Müllerian inhibiting substance as a marker for ovarian sex-cord tumor. 57
1732773 1992
12
Premature centromeric divisions and prominent telomeres in a patient with persistent mullerian duct syndrome. 57
1967991 1990
13
Familial uterine hernia syndrome: report of an Arab family with four affected males. 57
2764027 1989
14
The persistent Müllerian duct syndrome: a molecular approach. 6
2562843 1989
15
Cell-autonomous action of the testis-determining gene: Sertoli cells are exclusively XY in XX----XY chimaeric mouse testes. 57
3166423 1988
16
Cloning and expression of cDNA for anti-müllerian hormone. 57
2426698 1986
17
Familial persistent müllerian duct syndrome. 57
6708239 1984
18
Familial persistent Müllerian duct syndrome. 57
4634 1976
19
Familial occurrence of persistent Mullerian structures in otherwise normal males. 57
4144375 1973
20
Two male sibs with uterus and Fallopian tubes. A rare, probably inherited disorder. 57
4148776 1973
21
Skin. 57
12334405 1955
22
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. 61
22185203 2011

Variations for Persistent Mullerian Duct Syndrome, Types I and Ii

ClinVar genetic disease variations for Persistent Mullerian Duct Syndrome, Types I and Ii:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMHR2 AMHR2, IVS2DS, G-T, +1 SNV Pathogenic 8626 GRCh37:
GRCh38:
2 AMHR2 AMHR2, 27-BP DEL, NT6331 Deletion Pathogenic 8627 GRCh37:
GRCh38:
3 AMHR2 AMHR2, 1-BP DEL, 1692A Deletion Pathogenic 8628 GRCh37:
GRCh38:
4 AMH AMH, 14-BP DEL, EX2 Deletion Pathogenic 8623 GRCh37:
GRCh38:
5 AMH NM_000479.5(AMH):c.1144G>T (p.Glu382Ter) SNV Pathogenic 8622 rs267606654 GRCh37: 19:2251417-2251417
GRCh38: 19:2251418-2251418
6 AMH , MIR4321 NM_000479.5(AMH):c.571C>T (p.Arg191Ter) SNV Pathogenic 8624 rs104894666 GRCh37: 19:2250666-2250666
GRCh38: 19:2250667-2250667
7 AMHR2 NM_020547.3(AMHR2):c.1217G>A (p.Arg406Gln) SNV Pathogenic 8629 rs137853104 GRCh37: 12:53823691-53823691
GRCh38: 12:53429907-53429907
8 AMH NM_000479.5(AMH):c.1397_1419dup (p.Glu474delinsSerSerAlaTer) Duplication Pathogenic 8625 rs397518444 GRCh37: 19:2251669-2251670
GRCh38: 19:2251670-2251671
9 AMH , MIR4321 NM_000479.5(AMH):c.563G>A (p.Cys188Tyr) SNV Pathogenic 987678 GRCh37: 19:2250658-2250658
GRCh38: 19:2250659-2250659
10 AMH NM_000479.5(AMH):c.250del (p.Leu84fs) Deletion Pathogenic 1031587 GRCh37: 19:2249580-2249580
GRCh38: 19:2249581-2249581
11 AMHR2 NM_020547.3(AMHR2):c.233-1G>A SNV Pathogenic 1033536 GRCh37: 12:53818492-53818492
GRCh38: 12:53424708-53424708
12 AMH NM_000479.5(AMH):c.146G>T (p.Ser49Ile) SNV Benign 518296 rs10407022 GRCh37: 19:2249477-2249477
GRCh38: 19:2249478-2249478
13 AMH NM_000479.5(AMH):c.1239T>A (p.Gly413=) SNV Benign 518297 rs7252789 GRCh37: 19:2251512-2251512
GRCh38: 19:2251513-2251513
14 AMHR2 NM_020547.3(AMHR2):c.622-6C>T SNV Benign 522208 rs2071558 GRCh37: 12:53819467-53819467
GRCh38: 12:53425683-53425683
15 AMH NM_000479.5(AMH):c.974A>G (p.Gln325Arg) SNV Benign 381531 rs140765565 GRCh37: 19:2251247-2251247
GRCh38: 19:2251248-2251248

UniProtKB/Swiss-Prot genetic disease variations for Persistent Mullerian Duct Syndrome, Types I and Ii:

72 (show all 17)
# Symbol AA change Variation ID SNP ID
1 AMH p.Val12Gly VAR_007483 rs149082963
2 AMH p.Leu70Pro VAR_007485
3 AMH p.Gly101Val VAR_007486
4 AMH p.Arg123Trp VAR_007487 rs569914235
5 AMH p.Tyr167Cys VAR_007488 rs371874189
6 AMH p.Arg194Cys VAR_007490 rs777003373
7 AMH p.Val477Ala VAR_007492 rs135878711
8 AMH p.His506Gln VAR_031027 rs138571039
9 AMH p.Cys525Tyr VAR_031028
10 AMHR2 p.Arg54Cys VAR_015525 rs534999427
11 AMHR2 p.Gly142Val VAR_015526
12 AMHR2 p.His282Gln VAR_015527 rs539695176
13 AMHR2 p.Arg406Gln VAR_015528 rs137853104
14 AMHR2 p.Asp426Gly VAR_015529
15 AMHR2 p.Val458Ala VAR_015530 rs775889926
16 AMHR2 p.Asp491His VAR_015531 rs780680518
17 AMHR2 p.Arg504Cys VAR_015532 rs772294564

Expression for Persistent Mullerian Duct Syndrome, Types I and Ii

Search GEO for disease gene expression data for Persistent Mullerian Duct Syndrome, Types I and Ii.

Pathways for Persistent Mullerian Duct Syndrome, Types I and Ii

Pathways related to Persistent Mullerian Duct Syndrome, Types I and Ii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.64 MIR4321 AMH
2 10.93 AMHR2 AMH
3 9.66 AMHR2 AMH

GO Terms for Persistent Mullerian Duct Syndrome, Types I and Ii

Biological processes related to Persistent Mullerian Duct Syndrome, Types I and Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.16 AMHR2 AMH
2 sex differentiation GO:0007548 8.96 AMHR2 AMH
3 Mullerian duct regression GO:0001880 8.62 AMHR2 AMH

Sources for Persistent Mullerian Duct Syndrome, Types I and Ii

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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