MCID: PRS049
MIFTS: 38

Persistent Mullerian Duct Syndrome malady

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

Aliases & Classifications for Persistent Mullerian Duct Syndrome

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Aliases & Descriptions for Persistent Mullerian Duct Syndrome:

Name: Persistent Mullerian Duct Syndrome 11 48 13
Persistent Müllerian Duct Syndrome 25 27 39
Persistent Oviduct Syndrome 48 25
Pmds 48 25
 
Persistent Mullerian Duct Syndrome, Types 1 and 2 48
Female Genital Ducts in Otherwise Normal Male 48
Persistent Muellerian Duct Syndrome 11
Hernia Uteri Inguinale 48

Classifications:



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Disease Ontology11 DOID:0050791
MeSH39 C536665
SNOMED-CT62 702358005
NCIt45 C120188

Summaries for Persistent Mullerian Duct Syndrome

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NIH Rare Diseases:48 Persistent Müllerian duct syndrome (PMDS) is a disorder of sexual development that affects males. Affected males have normal male reproductive organs and normal male external genitalia, but also have a uterus and fallopian tubes (female reproductive organs). The uterus and fallopian tubes develop from a structure called the Müllerian duct in the fetus, which normally breaks down in males. In males with PMDS, the Müllerian duct remains. Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias. The uterus and fallopian tubes are often noticed during surgery to treat these conditions. Other features of PMDS may include unusual or 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) and 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 Müllerian structures. Last updated: 10/20/2015

MalaCards based summary: Persistent Mullerian Duct Syndrome, also known as persistent müllerian duct syndrome, is related to persistent mullerian duct syndrome, type ii and pelizaeus-merzbacher disease. An important gene associated with Persistent Mullerian Duct Syndrome is AMH (Anti-Mullerian Hormone), and among its related pathways are ALK2 signaling events and Hippo signaling pathway. Affiliated tissues include uterus, cervix and testis, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Disease Ontology:11 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.

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.

Related Diseases for Persistent Mullerian Duct Syndrome

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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

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.9AMH, AMHR2, BMP5, WNT7A
2MP:00053898.2AMH, AMHR2, BMP5, WNT7A

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Persistent Mullerian Duct Syndrome


Cochrane evidence based reviews: persistent müllerian duct syndrome

Genetic Tests for Persistent Mullerian Duct Syndrome

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Genetic tests related to Persistent Mullerian Duct Syndrome:

id Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome27

Anatomical Context for Persistent Mullerian Duct Syndrome

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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

36
Uterus, Cervix, Testis, Testes, Kidney

Publications for Persistent Mullerian Duct Syndrome

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Articles related to Persistent Mullerian Duct Syndrome:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Persistent Mullerian Duct Syndrome with Embryonal Cell Carcinoma along with Ectopic Cross Fused Kidney. (26894123)
2016
2
Persistent mullerian duct syndrome: A 24-year experience. (27329391)
2016
3
Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management. (27532119)
2016
4
Persistent mullerian duct syndrome presenting as retractile testis with hypospadias: A rare entity. (27326401)
2016
5
Persistent Mullerian Duct Syndrome with Ovarian Endometriosis-A Rare Case Report. (27042476)
2016
6
Laparoscopic hysterectomy with bilateral orchidectomy for Persistent Mullerian duct syndrome with seminoma testes: Case report. (26622120)
2015
7
A case of testicular seminoma in persistent Mullerian duct syndrome with transverse testicular ectopia. (25504517)
2015
8
Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. (25673601)
2015
9
Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia. (27512542)
2015
10
Laparoscopic management of transverse testicular ectopia with persistent mullerian duct syndrome. (26195884)
2015
11
A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome. (26181047)
2015
12
Female form of persistent mullerian duct syndrome: Rare entity. (25657558)
2015
13
Persistent mullerian duct syndrome: A case report and review of the literature. (25143891)
2014
14
Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes. (24594348)
2014
15
Persistent mullerian duct syndrome with transverse testicular ectopia: rare entity. (24783120)
2014
16
Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma. (24554220)
2014
17
Robot-assisted Laparoscopic Hysterectomy, Gonadal Biopsy, and Orchiopexies in an Infant With Persistent Mullerian Duct Syndrome. (24246315)
2013
18
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
19
Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. (23801478)
2013
20
Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review. (23671501)
2013
21
Persistent Mullerian Duct Syndrome: an interesting case report. (24045516)
2013
22
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. (23162363)
2012
23
Persistent Mullerian duct syndrome: a rare cause of unilateral cryptorchidism. (22977013)
2012
24
Persistent mullerian duct syndrome in adult men diagnosed using laparoscopy. (21256537)
2011
25
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. (22185203)
2011
26
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases. (22022070)
2011
27
Transverse testicular ectopia and persistent Mullerian duct syndrome: video-assisted treatment. (19360556)
2010
28
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. (18954385)
2010
29
Persistent Mullerian duct syndrome: a case-based algorithm. (20509098)
2010
30
Persistent mullerian duct syndrome. (20352001)
2010
31
Testicular fusion in a patient with transverse testicular ectopia and persistent mullerian duct syndrome. (20092878)
2010
32
Persistent Mullerian duct syndrome: a case report and review of the literature. (20859029)
2010
33
Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport. (19457927)
2009
34
Laparoscopic management of persistent mullerian duct syndrome. (19735801)
2009
35
Persistent mullerian duct syndrome with an irreducible inguinal hernia. (20027561)
2009
36
Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging. (18559894)
2008
37
Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage. (18547961)
2008
38
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. (18760051)
2008
39
Tuberculosis of transverse testicular ectopic testis associated with persistent mullerian duct syndrome. (18474165)
2008
40
Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management. (18082721)
2007
41
Persistent Mullerian duct syndrome with transverse testicular ectopia presenting in an irreducible recurrent inguinal hernia. (17902529)
2007
42
Persistent mullerian duct syndrome with transverse testicular ectopia. (17333518)
2007
43
Persistent Mullerian duct syndrome with bilateral abdominal testis: surgical approach and review of the literature. (18947583)
2005
44
Persistent mullerian duct syndrome with transverse testicular ectopia. (15730845)
2005
45
Persistent Mullerian duct syndrome associated with 47,XXY genotype. (14713842)
2004
46
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. (15499815)
2004
47
Mutations of the anti-mullerian hormone gene in patients with persistent mullerian duct syndrome: biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three-dimensional model. (14673134)
2004
48
Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene. (14745940)
2003
49
Persistent mullerian duct syndrome--a case report. (12675189)
2002
50
Persistent mullerian duct syndrome with teratoma in an ectopic testis: imaging features. (11419169)
2001

Variations for Persistent Mullerian Duct Syndrome

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Expression for genes affiliated with Persistent Mullerian Duct Syndrome

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

Pathways for genes affiliated with Persistent Mullerian Duct Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.5AMH, AMHR2
28.7AMH, BMP5, WNT7A

GO Terms for genes affiliated with Persistent Mullerian Duct Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1Mullerian duct regressionGO:00018809.9AMH, AMHR2
2male gonad developmentGO:00085849.7AMHR2, SRY
3cartilage developmentGO:00512169.7BMP5, WNT7A
4sex differentiationGO:00075488.7AMH, AMHR2, WNT7A

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.9AMH, BMP5
2cytokine activityGO:00051259.7BMP5, WNT7A
3transforming growth factor beta receptor bindingGO:00051609.5AMH, BMP5

Sources for Persistent Mullerian Duct Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet