PMDS
MCID: PRS049
MIFTS: 36

Persistent Mullerian Duct Syndrome (PMDS) malady

Summaries for Persistent Mullerian Duct Syndrome

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8Disease Ontology, 47OMIM, 33MalaCards
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Disease Ontology:8 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.

MalaCards: Persistent Mullerian Duct Syndrome, also known as persistent mullerian duct syndrome, types 1 and 2, is related to persistent mullerian duct syndrome, type i and persistent m�llerian duct syndrome. An important gene associated with Persistent Mullerian Duct Syndrome is AMH (anti-Mullerian hormone), and among its related pathways are PEDF Induced Signaling and TGF-beta signaling pathway. The compound testosterone have been mentioned in the context of this disorder. Affiliated tissues include uterus, testis and cervix, and related mouse phenotypes are no phenotypic analysis and tumorigenesis.

Description from OMIM:47 261550

Aliases & Classifications for Persistent Mullerian Duct Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 61UMLS, 35MeSH, 47OMIM
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Aliases & Descriptions:

persistent mullerian duct syndrome 8 43 22 61
persistent mullerian duct syndrome, types 1 and 2 43
female genital ducts in otherwise normal male 43
persistent oviduct syndrome 43
hernia uteri inguinale 43
pmds 43


External Ids:

Disease Ontology8 DOID:0050791
MeSH35 C536665
OMIM47 261550

Related Diseases for Persistent Mullerian Duct Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Persistent Mullerian Duct Syndrome:



Diseases related to persistent mullerian duct syndrome

Clinical Features for Persistent Mullerian Duct Syndrome

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47OMIM
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Clinical features from OMIM:

261550

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Persistent Mullerian Duct Syndrome

Search CenterWatch for Persistent Mullerian Duct Syndrome

Genetic Tests for Persistent Mullerian Duct Syndrome

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22GTR
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Genetic tests related to Persistent Mullerian Duct Syndrome:

id Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome22

Anatomical Context for Persistent Mullerian Duct Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

33
Uterus, Testis, Cervix

Animal Models for Persistent Mullerian Duct Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1AMH, AMHR2
2MP:00020068.8AMH, AMHR2

Publications for Persistent Mullerian Duct Syndrome

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51PubMed
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Articles related to Persistent Mullerian Duct Syndrome:

(show all 47)
idTitleAuthorsYear
1
Robot-assisted Laparoscopic Hysterectomy, Gonadal Biopsy, and Orchiopexies in an Infant With Persistent Mullerian Duct Syndrome. (24246315)
2013
2
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
3
Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. (23801478)
2013
4
Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review. (23671501)
2013
5
Persistent Mullerian Duct Syndrome: an interesting case report. (24045516)
2013
6
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. (23162363)
2012
7
Persistent Mullerian duct syndrome: a rare cause of unilateral cryptorchidism. (22977013)
2012
8
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. (22185203)
2011
9
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases. (22022070)
2011
10
Persistent mullerian duct syndrome in adult men diagnosed using laparoscopy. (21256537)
2011
11
Transverse testicular ectopia and persistent Mullerian duct syndrome: video-assisted treatment. (19360556)
2010
12
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. (18954385)
2010
13
Persistent Mullerian duct syndrome: a case-based algorithm. (20509098)
2010
14
Persistent mullerian duct syndrome. (20352001)
2010
15
Testicular fusion in a patient with transverse testicular ectopia and persistent mullerian duct syndrome. (20092878)
2010
16
Persistent Mullerian duct syndrome: a case report and review of the literature. (20859029)
2010
17
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
18
Laparoscopic management of persistent mullerian duct syndrome. (19735801)
2009
19
Persistent mullerian duct syndrome with an irreducible inguinal hernia. (20027561)
2009
20
Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging. (18559894)
2008
21
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. (18760051)
2008
22
Tuberculosis of transverse testicular ectopic testis associated with persistent mullerian duct syndrome. (18474165)
2008
23
Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage. (18547961)
2008
24
Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management. (18082721)
2007
25
Persistent Mullerian duct syndrome with transverse testicular ectopia presenting in an irreducible recurrent inguinal hernia. (17902529)
2007
26
Persistent mullerian duct syndrome with transverse testicular ectopia. (17333518)
2007
27
Persistent mullerian duct syndrome with transverse testicular ectopia. (15730845)
2005
28
Persistent Mullerian duct syndrome with bilateral abdominal testis: surgical approach and review of the literature. (18947583)
2005
29
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
30
Persistent Mullerian duct syndrome associated with 47,XXY genotype. (14713842)
2004
31
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. (15499815)
2004
32
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
33
Persistent mullerian duct syndrome--a case report. (12675189)
2002
34
Persistent mullerian duct syndrome with teratoma in an ectopic testis: imaging features. (11419169)
2001
35
A case of bilateral seminoma in the setting of persistent mullerian duct syndrome. (11421115)
2001
36
Persistent Mullerian duct syndrome presenting with bilateral intra-abdominal gonadal tumours and obstructive uropathy. (11554632)
2001
37
Persistent Mullerian duct syndrome in adult: a case report. (11253897)
2000
38
Persistent Mullerian duct syndrome in a child: surgical management. (17322675)
2000
39
Persistent Mullerian duct syndrome associated with transverse testicular ectopia. (11180784)
1999
40
Persistent mullerian duct syndrome with normal testis. (9670631)
1998
41
Persistent Mullerian Duct Syndrome associated with transverse testicular ectopia: a case report. (9085816)
1997
42
Persistent mullerian duct syndrome associated with transverse testicular ectopia. (17377436)
1997
43
Molecular genetics of the persistent Mullerian duct syndrome: a study of 19 families. (8162013)
1994
44
Variants of the anti-Mullerian hormone gene in a compound heterozygote with the persistent Mullerian duct syndrome and his family. (1483695)
1992
45
A testicular tumour in the left adnex. The persistent mullerian duct syndrome with testicular malignancy. (1671659)
1991
46
Premature centromeric divisions and prominent telomeres in a patient with persistent mullerian duct syndrome. (1967991)
1990
47
Persistent Mullerian duct syndrome: report of two boys with associated crossed testicular ectopia. (2359010)
1990

Genetic Variations for Persistent Mullerian Duct Syndrome

Expression for genes affiliated with Persistent Mullerian Duct Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Persistent Mullerian Duct Syndrome

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

Pathways for genes affiliated with Persistent Mullerian Duct Syndrome

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Persistent Mullerian Duct Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1AMH, AMHR2
29.1AMH, AMHR2
39.1AMH, AMHR2

Compounds for genes affiliated with Persistent Mullerian Duct Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Persistent Mullerian Duct Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1testosterone45 60 11 2412.1AMH, AMHR2

GO Terms for genes affiliated with Persistent Mullerian Duct Syndrome

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16Gene Ontology
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Biological processes related to Persistent Mullerian Duct Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sex differentiationGO:0075489.1AMH, AMHR2
2Mullerian duct regressionGO:0018808.8AMH, AMHR2

Products for genes affiliated with Persistent Mullerian Duct Syndrome

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Sources for Persistent Mullerian Duct Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet