MCID: PRS049
MIFTS: 48

Persistent Mullerian Duct Syndrome malady

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

Summaries for Persistent Mullerian Duct Syndrome

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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.

MalaCards based summary: Persistent Mullerian Duct Syndrome, also known as persistent müllerian duct syndrome, is related to pseudohermaphroditism and persistent mullerian duct syndrome, type ii, and has symptoms including cryptorchidism, male pseudohermaphroditism and hernia of the abdominal wall. 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 testes, and related mouse phenotypes are tumorigenesis 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.

Wikipedia:65 Persistent M more...

Aliases & Classifications for Persistent Mullerian Duct Syndrome

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Sources:
10Disease Ontology, 43NIH Rare Diseases, 23Genetics Home Reference, 49Orphanet, 24GTR, 62UMLS, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Persistent Mullerian Duct Syndrome, Aliases & Descriptions:

Name: Persistent Mullerian Duct Syndrome 10 43 62
Persistent Müllerian Duct Syndrome 43 23 49 24
Pmds 43 23 49
Female Genital Ducts in Otherwise Normal Male 43 62
 
Persistent Müllerian Derivatives 43 49
Persistent Oviduct Syndrome 43 23
Persistent Mullerian Duct Syndrome, Types 1 and 2 43
Hernia Uteri Inguinale 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
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
MeSH35 C536665
Orphanet49 2856
MESH via Orphanet36 C536665
ICD10 via Orphanet28 Q55.8
UMLS via Orphanet63 C1849930

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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Symptoms:

 49
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • autosomal recessive inheritance
  • inguinal/inguinoscrotal/crural hernia
  • male pseudohermaphrodism/lack of virilisation

HPO human phenotypes related to Persistent Mullerian Duct Syndrome:

id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 male pseudohermaphroditism typical (50%) HP:0000037
3 hernia of the abdominal wall typical (50%) HP:0004299

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

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Drug clinical trials:

Search ClinicalTrials for Persistent Mullerian Duct Syndrome

Search NIH Clinical Center for Persistent Mullerian 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 Syndrome24

Anatomical Context for Persistent Mullerian Duct Syndrome

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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

33
Uterus, Cervix, Testes, Testis

Animal Models for Persistent Mullerian Duct Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

37
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 top 50)    (show all 54)
idTitleAuthorsYear
1
A case of testicular seminoma in persistent Mullerian duct syndrome with transverse testicular ectopia. (25504517)
2015
2
Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. (25673601)
2015
3
Female form of persistent mullerian duct syndrome: Rare entity. (25657558)
2015
4
Persistent mullerian duct syndrome with transverse testicular ectopia: rare entity. (24783120)
2014
5
Persistent mullerian duct syndrome: A case report and review of the literature. (25143891)
2014
6
Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma. (24554220)
2014
7
Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes. (24594348)
2014
8
Robot-assisted Laparoscopic Hysterectomy, Gonadal Biopsy, and Orchiopexies in an Infant With Persistent Mullerian Duct Syndrome. (24246315)
2013
9
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
10
Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. (23801478)
2013
11
Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review. (23671501)
2013
12
Persistent Mullerian Duct Syndrome: an interesting case report. (24045516)
2013
13
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. (23162363)
2012
14
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. (22185203)
2011
15
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases. (22022070)
2011
16
Persistent mullerian duct syndrome in adult men diagnosed using laparoscopy. (21256537)
2011
17
Transverse testicular ectopia and persistent Mullerian duct syndrome: video-assisted treatment. (19360556)
2010
18
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. (18954385)
2010
19
Persistent Mullerian duct syndrome: a case-based algorithm. (20509098)
2010
20
Persistent mullerian duct syndrome. (20352001)
2010
21
Testicular fusion in a patient with transverse testicular ectopia and persistent mullerian duct syndrome. (20092878)
2010
22
Persistent Mullerian duct syndrome: a case report and review of the literature. (20859029)
2010
23
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
24
Laparoscopic management of persistent mullerian duct syndrome. (19735801)
2009
25
Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging. (18559894)
2008
26
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. (18760051)
2008
27
Tuberculosis of transverse testicular ectopic testis associated with persistent mullerian duct syndrome. (18474165)
2008
28
Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage. (18547961)
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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Compounds for genes affiliated with Persistent Mullerian Duct Syndrome

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Sources:
45Novoseek, 61Tocris Bioscience, 26HMDB, 13DrugBank
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Compounds related to Persistent Mullerian Duct Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1testosterone45 61 26 1312.1AMH, 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:00075489.1AMH, AMHR2
2Mullerian duct regressionGO:00018808.8AMH, AMHR2

Products for genes affiliated with Persistent Mullerian Duct Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Persistent Mullerian Duct Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet