PMDS
MCID: PRS049
MIFTS: 44

Persistent Mullerian Duct Syndrome (PMDS) malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Fetal diseases categories
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Summaries for Persistent Mullerian Duct Syndrome

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Genetics Home Reference:21 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 female genital ducts in otherwise normal male, is related to pseudohermaphroditism and seminoma. 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, cervix and testis, and related mouse phenotypes are tumorigenesis and reproductive system.

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.

Wikipedia:65 Persistent M more...

Description from OMIM:46 261550

Aliases & Classifications for Persistent Mullerian Duct Syndrome

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Persistent Mullerian Duct Syndrome, Aliases & Descriptions:

Name: Persistent Mullerian Duct Syndrome 8 42 22 62
Female Genital Ducts in Otherwise Normal Male 42 62
Persistent Oviduct Syndrome 42 21
Pmds 42 21
 
Persistent Mullerian Duct Syndrome, Types 1 and 2 42
Persistent Müllerian Duct Syndrome 21
Hernia Uteri Inguinale 42


Classifications:



External Ids:

Disease Ontology8 DOID:0050791
MeSH34 C536665
OMIM46 261550

Related Diseases for Persistent Mullerian Duct Syndrome

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Graphical network of diseases related to Persistent Mullerian Duct Syndrome:



Diseases related to persistent mullerian duct syndrome

Symptoms for Persistent Mullerian Duct Syndrome

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Clinical features from OMIM:

261550

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

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Drug clinical trials:

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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 Syndrome22

Anatomical Context for Persistent Mullerian Duct Syndrome

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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

32
Uterus, Cervix, Testis, Testes

Animal Models for Persistent Mullerian Duct Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1AMH, AMHR2
2MP:00053899.1AMH, AMHR2
3MP:00030129.0AMH, AMHR2
4MP:00053798.8AMH, AMHR2

Publications for Persistent Mullerian Duct Syndrome

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Articles related to Persistent Mullerian Duct Syndrome:

(show all 50)
idTitleAuthorsYear
1
Persistent mullerian duct syndrome with transverse testicular ectopia: rare entity. (24783120)
2014
2
Persistent mullerian duct syndrome: A case report and review of the literature. (25143891)
2014
3
Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma. (24554220)
2014
4
Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes. (24594348)
2014
5
Robot-assisted Laparoscopic Hysterectomy, Gonadal Biopsy, and Orchiopexies in an Infant With Persistent Mullerian Duct Syndrome. (24246315)
2013
6
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
7
Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. (23801478)
2013
8
Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review. (23671501)
2013
9
Persistent Mullerian Duct Syndrome: an interesting case report. (24045516)
2013
10
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. (23162363)
2012
11
Persistent Mullerian duct syndrome: a rare cause of unilateral cryptorchidism. (22977013)
2012
12
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. (22185203)
2011
13
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases. (22022070)
2011
14
Persistent mullerian duct syndrome in adult men diagnosed using laparoscopy. (21256537)
2011
15
Transverse testicular ectopia and persistent Mullerian duct syndrome: video-assisted treatment. (19360556)
2010
16
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. (18954385)
2010
17
Persistent Mullerian duct syndrome: a case-based algorithm. (20509098)
2010
18
Persistent mullerian duct syndrome. (20352001)
2010
19
Testicular fusion in a patient with transverse testicular ectopia and persistent mullerian duct syndrome. (20092878)
2010
20
Persistent Mullerian duct syndrome: a case report and review of the literature. (20859029)
2010
21
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
22
Laparoscopic management of persistent mullerian duct syndrome. (19735801)
2009
23
Persistent mullerian duct syndrome with an irreducible inguinal hernia. (20027561)
2009
24
Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging. (18559894)
2008
25
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. (18760051)
2008
26
Tuberculosis of transverse testicular ectopic testis associated with persistent mullerian duct syndrome. (18474165)
2008
27
Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage. (18547961)
2008
28
Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management. (18082721)
2007
29
Persistent mullerian duct syndrome with transverse testicular ectopia. (17333518)
2007
30
Persistent mullerian duct syndrome with transverse testicular ectopia. (15730845)
2005
31
Persistent Mullerian duct syndrome with bilateral abdominal testis: surgical approach and review of the literature. (18947583)
2005
32
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
33
Persistent Mullerian duct syndrome associated with 47,XXY genotype. (14713842)
2004
34
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. (15499815)
2004
35
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
36
Persistent mullerian duct syndrome--a case report. (12675189)
2002
37
Persistent mullerian duct syndrome with teratoma in an ectopic testis: imaging features. (11419169)
2001
38
A case of bilateral seminoma in the setting of persistent mullerian duct syndrome. (11421115)
2001
39
Persistent Mullerian duct syndrome presenting with bilateral intra-abdominal gonadal tumours and obstructive uropathy. (11554632)
2001
40
Persistent Mullerian duct syndrome in adult: a case report. (11253897)
2000
41
Persistent Mullerian duct syndrome in a child: surgical management. (17322675)
2000
42
Persistent Mullerian duct syndrome associated with transverse testicular ectopia. (11180784)
1999
43
Persistent mullerian duct syndrome with normal testis. (9670631)
1998
44
Persistent Mullerian Duct Syndrome associated with transverse testicular ectopia: a case report. (9085816)
1997
45
Persistent mullerian duct syndrome associated with transverse testicular ectopia. (17377436)
1997
46
Molecular genetics of the persistent Mullerian duct syndrome: a study of 19 families. (8162013)
1994
47
Variants of the anti-Mullerian hormone gene in a compound heterozygote with the persistent Mullerian duct syndrome and his family. (1483695)
1992
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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Expression patterns in normal tissues for genes affiliated with Persistent Mullerian Duct Syndrome

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Pathways for genes affiliated with Persistent Mullerian Duct Syndrome

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Compounds for genes affiliated with Persistent Mullerian Duct Syndrome

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Sources:
44Novoseek, 61Tocris Bioscience, 24HMDB, 11DrugBank
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Compounds related to Persistent Mullerian Duct Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1testosterone44 61 24 1112.1AMH, AMHR2

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/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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet