MCID: PRS049
MIFTS: 46

Persistent Mullerian Duct Syndrome malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Persistent Mullerian Duct Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
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Aliases & Descriptions for Persistent Mullerian Duct Syndrome:

Name: Persistent Mullerian Duct Syndrome 10 45 12 65
Persistent Müllerian Duct Syndrome 23 51 24
Pmds 45 23 51
Persistent Oviduct Syndrome 45 23
Persistent Mullerian Duct Syndrome, Types 1 and 2 45
 
Female Genital Ducts in Otherwise Normal Male 45
Persistent Müllerian Derivatives 51
Hernia Uteri Inguinale 45
Persistent M 36


Classifications:



Characteristics (Orphanet epidemiological data):

51
persistent müllerian duct syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:0050791
MeSH36 C536665
Orphanet51 2856
UMLS via Orphanet66 C1849930
ICD10 via Orphanet28 Q55.8
MESH via Orphanet37 C536665

Summaries for Persistent Mullerian Duct Syndrome

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NIH Rare Diseases:45 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 sexual disorder, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, autosomal recessive inheritance and inguinal/inguinoscrotal/crural hernia. An important gene associated with Persistent Mullerian Duct Syndrome is AMH (Anti-Mullerian Hormone), and among its related pathways are ALK2 signaling events and . Affiliated tissues include uterus, testes and cervix, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Disease Ontology:10 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:23 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.

Wikipedia:68 Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian... more...

Related Diseases for Persistent Mullerian Duct Syndrome

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Diseases in the Persistent Mullerian Duct Syndrome family:

Persistent Mullerian Duct Syndrome, Type Ii

Diseases related to Persistent Mullerian Duct Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1persistent mullerian duct syndrome, type ii31.3AMH, AMHR2
2sexual disorder29.9AMH, AMHR2, SRY
3seminoma10.7
4inguinal hernia10.6
5pelizaeus-merzbacher disease10.6
6cryptorchidism10.5
7klinefelter's syndrome10.3
8pseudohermaphroditism10.3
9tuberculosis10.3
10teratoma10.3
11central nervous system disease10.2
12demyelinating disease10.2
13male reproductive system disease10.2
14nervous system disease10.2
15penile disease10.2
16physical disorder10.2
17placenta disease10.2
18prion disease10.2
19x-linked disease10.2
20genetic brain disorders10.2
21male genital disorders10.2
22neurologic diseases10.2
23encephalopathy10.2
24pelizaeus-merzbacher disease, connatal form10.2
25testicular granulosa cell tumor10.1AMH, SRY
26herpes simplex10.0AMH, SRY
27pseudohypoparathyroidism10.0AMH, AMHR2
28melanoacanthoma10.0SRY, TGFBI
29frasier syndrome10.0AMH, SRY
30non-suppurative otitis media10.0SRY, TGFBI
31leukodystrophy, hypomyelinating, 310.0
32mucolipidosis ii alpha/beta10.0
33peyronie's disease10.0
34hypoactive sexual desire disorder10.0
35microphthalmia10.0
36connective tissue disease10.0
37impotence10.0
38reproductive system disease10.0
39plp1-related disorders10.0
40pellucid marginal degeneration10.0
41seizure disorder10.0
42pelizaeus-merzbacher disease, classic form10.0
43pelizaeus-merzbacher disease, transitional form10.0
44angular blepharoconjunctivitis10.0AMHR2, BMP15
4548,xxxy syndrome10.0BMP15, SRY
46third ventricle chordoid glioma9.9AMH, AMHR2, SRY
47ovarian embryonal carcinoma9.9AMH, BMP15
48gonadal dysgenesis9.9AMH, AMHR2, SRY
49osteitis fibrosa9.9AMH, BMP15, SRY
50gonococcal seminal vesiculitis9.9AMH, BMP15, SRY

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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Symptoms:

 51
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • autosomal recessive inheritance
  • inguinal/inguinoscrotal/crural hernia
  • male pseudohermaphrodism/lack of virilisation

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 M?

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 Syndrome24

Anatomical Context for Persistent Mullerian Duct Syndrome

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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

33
Uterus, Testes, Cervix, Testis

Animal Models for Persistent Mullerian Duct Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.7AMH, AMHR2, BMP15, BMP5, SRY
2MP:00053897.0AMH, AMHR2, BMP15, BMP5, SRY, WNT7A

Publications for Persistent Mullerian Duct Syndrome

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Articles related to Persistent Mullerian Duct Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Laparoscopic management of transverse testicular ectopia with persistent mullerian duct syndrome. (26195884)
2015
2
A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome. (26181047)
2015
3
A case of testicular seminoma in persistent Mullerian duct syndrome with transverse testicular ectopia. (25504517)
2015
4
Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. (25673601)
2015
5
Female form of persistent mullerian duct syndrome: Rare entity. (25657558)
2015
6
Persistent mullerian duct syndrome with transverse testicular ectopia: rare entity. (24783120)
2014
7
Persistent mullerian duct syndrome: A case report and review of the literature. (25143891)
2014
8
Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma. (24554220)
2014
9
Robot-assisted Laparoscopic Hysterectomy, Gonadal Biopsy, and Orchiopexies in an Infant With Persistent Mullerian Duct Syndrome. (24246315)
2013
10
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
11
Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. (23801478)
2013
12
Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review. (23671501)
2013
13
Persistent Mullerian Duct Syndrome: an interesting case report. (24045516)
2013
14
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. (23162363)
2012
15
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. (22185203)
2011
16
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases. (22022070)
2011
17
Persistent mullerian duct syndrome in adult men diagnosed using laparoscopy. (21256537)
2011
18
Transverse testicular ectopia and persistent Mullerian duct syndrome: video-assisted treatment. (19360556)
2010
19
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. (18954385)
2010
20
Persistent Mullerian duct syndrome: a case-based algorithm. (20509098)
2010
21
Persistent mullerian duct syndrome. (20352001)
2010
22
Testicular fusion in a patient with transverse testicular ectopia and persistent mullerian duct syndrome. (20092878)
2010
23
Persistent Mullerian duct syndrome: a case report and review of the literature. (20859029)
2010
24
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
25
Laparoscopic management of persistent mullerian duct syndrome. (19735801)
2009
26
Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging. (18559894)
2008
27
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. (18760051)
2008
28
Tuberculosis of transverse testicular ectopic testis associated with persistent mullerian duct syndrome. (18474165)
2008
29
Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management. (18082721)
2007
30
Persistent Mullerian duct syndrome with transverse testicular ectopia presenting in an irreducible recurrent inguinal hernia. (17902529)
2007
31
Persistent mullerian duct syndrome with transverse testicular ectopia. (17333518)
2007
32
Persistent mullerian duct syndrome with transverse testicular ectopia. (15730845)
2005
33
Persistent Mullerian duct syndrome with bilateral abdominal testis: surgical approach and review of the literature. (18947583)
2005
34
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
35
Persistent Mullerian duct syndrome associated with 47,XXY genotype. (14713842)
2004
36
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. (15499815)
2004
37
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
38
Persistent mullerian duct syndrome--a case report. (12675189)
2002
39
Persistent mullerian duct syndrome with teratoma in an ectopic testis: imaging features. (11419169)
2001
40
A case of bilateral seminoma in the setting of persistent mullerian duct syndrome. (11421115)
2001
41
Persistent Mullerian duct syndrome presenting with bilateral intra-abdominal gonadal tumours and obstructive uropathy. (11554632)
2001
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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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 pathways (with members indented)ScoreTop Affiliating Genes
19.7AMH, AMHR2
2
TGF-beta signaling pathway (KEGG)
Show member pathways
8.9AMH, AMHR2
38.8AMH, BMP5, WNT7A
4
Show member pathways
8.6BMP15, BMP5, WNT7A

GO Terms for genes affiliated with Persistent Mullerian Duct Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.7AMH, BMP15, BMP5, TGFBI, WNT7A

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1Mullerian duct regressionGO:000188010.2AMH, AMHR2
2sex determinationGO:000753010.1AMH, SRY
3male gonad developmentGO:00085849.5AMHR2, SRY
4chondrocyte differentiationGO:00020629.5TGFBI, WNT7A
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.4BMP15, BMP5
6regulation of MAPK cascadeGO:00434089.3BMP15, BMP5
7SMAD protein signal transductionGO:00603959.3BMP15, BMP5
8cartilage developmentGO:00512169.1BMP5, WNT7A
9BMP signaling pathwayGO:00305099.1BMP15, BMP5
10sex differentiationGO:00075488.9AMH, 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:00051609.0AMH, BMP15, BMP5
2growth factor activityGO:00080838.7AMH, BMP15, BMP5
3cytokine activityGO:00051258.6BMP15, BMP5, WNT7A

Sources for Persistent Mullerian Duct Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet