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 47 13
Persistent Müllerian Duct Syndrome 25 26 38
Persistent Oviduct Syndrome 47 25
Pmds 47 25
 
Persistent Mullerian Duct Syndrome, Types 1 and 2 47
Female Genital Ducts in Otherwise Normal Male 47
Persistent Muellerian Duct Syndrome 11
Hernia Uteri Inguinale 47

Classifications:



External Ids:

Disease Ontology11 DOID:0050791
MeSH38 C536665
SNOMED-CT61 702358005
NCIt44 C120188

Summaries for Persistent Mullerian Duct Syndrome

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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.

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.

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 for Persistent Mullerian Duct Syndrome

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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 Syndrome26

Anatomical Context for Persistent Mullerian Duct Syndrome

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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

35
Uterus, Cervix, Testis, Testes, Kidney

Animal Models for Persistent Mullerian Duct Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.9AMH, AMHR2, BMP5, WNT7A
2MP:00053898.2AMH, AMHR2, BMP5, WNT7A

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
Persistent mullerian duct syndrome: A case report and review of the literature. (25143891)
2014
13
Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes. (24594348)
2014
14
Persistent mullerian duct syndrome with transverse testicular ectopia: rare entity. (24783120)
2014
15
Robot-assisted Laparoscopic Hysterectomy, Gonadal Biopsy, and Orchiopexies in an Infant With Persistent Mullerian Duct Syndrome. (24246315)
2013
16
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
17
Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. (23801478)
2013
18
Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review. (23671501)
2013
19
Persistent Mullerian Duct Syndrome: an interesting case report. (24045516)
2013
20
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. (23162363)
2012
21
Persistent mullerian duct syndrome in adult men diagnosed using laparoscopy. (21256537)
2011
22
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. (22185203)
2011
23
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases. (22022070)
2011
24
Transverse testicular ectopia and persistent Mullerian duct syndrome: video-assisted treatment. (19360556)
2010
25
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. (18954385)
2010
26
Persistent Mullerian duct syndrome: a case-based algorithm. (20509098)
2010
27
Persistent mullerian duct syndrome. (20352001)
2010
28
Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging. (18559894)
2008
29
Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage. (18547961)
2008
30
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. (18760051)
2008
31
Tuberculosis of transverse testicular ectopic testis associated with persistent mullerian duct syndrome. (18474165)
2008
32
Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management. (18082721)
2007
33
Persistent Mullerian duct syndrome with transverse testicular ectopia presenting in an irreducible recurrent inguinal hernia. (17902529)
2007
34
Persistent mullerian duct syndrome with transverse testicular ectopia. (17333518)
2007
35
Persistent Mullerian duct syndrome with bilateral abdominal testis: surgical approach and review of the literature. (18947583)
2005
36
Persistent mullerian duct syndrome with transverse testicular ectopia. (15730845)
2005
37
Persistent Mullerian duct syndrome associated with 47,XXY genotype. (14713842)
2004
38
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. (15499815)
2004
39
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
40
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
41
Persistent mullerian duct syndrome--a case report. (12675189)
2002
42
Persistent mullerian duct syndrome with teratoma in an ectopic testis: imaging features. (11419169)
2001
43
A case of bilateral seminoma in the setting of persistent mullerian duct syndrome. (11421115)
2001
44
Persistent Mullerian duct syndrome associated with transverse testicular ectopia. (11180784)
1999
45
Persistent mullerian duct syndrome with normal testis. (9670631)
1998
46
Persistent Mullerian Duct Syndrome associated with transverse testicular ectopia: a case report. (9085816)
1997
47
Persistent mullerian duct syndrome associated with transverse testicular ectopia. (17377436)
1997
48
A testicular tumour in the left adnex. The persistent mullerian duct syndrome with testicular malignancy. (1671659)
1991
49
Premature centromeric divisions and prominent telomeres in a patient with persistent mullerian duct syndrome. (1967991)
1990
50
Persistent Mullerian duct syndrome: report of two boys with associated crossed testicular ectopia. (2359010)
1990

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:000188010.0AMH, AMHR2
2male gonad developmentGO:00085849.6AMHR2, SRY
3cartilage developmentGO:00512169.4BMP5, 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
1transforming growth factor beta receptor bindingGO:000516010.0AMH, BMP5
2growth factor activityGO:00080839.5AMH, BMP5
3cytokine activityGO:00051258.8BMP5, WNT7A

Sources for Persistent Mullerian Duct Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet