PMDS
MCID: PRS049
MIFTS: 50

Persistent Mullerian Duct Syndrome (PMDS) 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 48 13
Persistent Müllerian Duct Syndrome 25 27 39
Persistent Oviduct Syndrome 48 25
Pmds 48 25
 
Persistent Mullerian Duct Syndrome, Types 1 and 2 48
Female Genital Ducts in Otherwise Normal Male 48
Persistent Muellerian Duct Syndrome 11
Hernia Uteri Inguinale 48

Classifications:



External Ids:

Disease Ontology11 DOID:0050791
MeSH39 C536665
SNOMED-CT62 702358005
NCIt45 C120188

Summaries for Persistent Mullerian Duct Syndrome

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NIH Rare Diseases:48 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 pelizaeus-merzbacher disease, and has symptoms including inguinal hernia, cryptorchidism and male pseudohermaphroditism. An important gene associated with Persistent Mullerian Duct Syndrome is AMH (Anti-Mullerian Hormone), and among its related pathways are ALK2 signaling events and Glypican 3 network. Affiliated tissues include uterus, testes and cervix, and related mouse phenotypes are neoplasm and hearing/vestibular/ear.

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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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 all 41)
idRelated DiseaseScoreTop Affiliating Genes
1persistent mullerian duct syndrome, type ii12.5
2pelizaeus-merzbacher disease12.0
3seminoma10.2
4intramuscular hemangioma10.2AMH, BMP15, SRY
5palmoplantar keratoderma, bothnian type10.2AMH, AMHR2
6sphingolipidosis10.2AMH, AMHR2, SRY
7antisynthetase syndrome10.2INSL3, NR5A1, SRY
8capillary lymphangioma10.2AMH, NR5A1, SRY
9acute gonococcal salpingitis10.2BMP15, NR5A1, SRY
10inguinal hernia10.2
11third ventricle chordoid glioma10.2AMH, AMHR2, WT1
12spermatogenic failure, y-linked, 110.1SOX9, SRY
13spondylolysis10.1AMH, BMP15, NR5A1
14avoidant personality disorder10.1AMH, BMP15, NR5A1, SRY
15brucella melitensis brucellosis10.1AMHR2, SOX9, SRY
16autosomal dominant optic atrophy and late-onset deafness10.1NR5A1, SOX9, SRY
17splenic disease10.1INSL3, SOX9, SRY
18breast ductal carcinoma10.1CTNNB1, WT1
19farmer's lung10.1NR5A1, SOX9, SRY
20cryptorchidism10.0
21choriocarcinoma10.0KIT, WT1
22diabetes mellitus, insulin-resistant, with acanthosis nigricans10.0AMH, INSL3, NR5A1, WT1
238p23.1 duplication syndrome10.0BMP15, NR5A1, SOX9, SRY
24exotropia10.0WNT7A, WT1
25testicular seminoma10.0
26crouzon syndrome10.0AMH, FGFR2, NOTCH2
27left ventricular noncompaction10.0FGFR2, WNT7A
28deafness, autosomal recessive 519.9AMH, NR5A1, SOX9, SRY, WT1
29hypospadias9.8
30klinefelter's syndrome9.8
31endometriosis9.8
32teratoma9.8
33pseudohermaphroditism9.8
34tuberculosis9.8
35cerebral cavernous malformations-29.8CTNNB1, NR5A1, SOX9, SRY, WT1
36pneumonia9.8FGFR2, KIT, WT1
37orofaciodigital syndrome x9.7KIT, SOX9, SRY, TSPY1, WT1
3846 xx gonadal dysgenesis9.7AMH, BMP15, NR5A1, SOX9, SRY, TSPY1
39myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.6BMP4, FGFR2, SOX9
40benign essential hypertension9.5FGFR2, INSL3, NR5A1, SOX9, SRY, WT1
41cone dystrophy7.9AMH, AMHR2, BMP15, BMP4, BMP5, CTNNB1

Graphical network of the top 20 diseases related to Persistent Mullerian Duct Syndrome:



Diseases related to persistent mullerian duct syndrome

Symptoms & Phenotypes for Persistent Mullerian Duct Syndrome

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Human phenotypes related to Persistent Mullerian Duct Syndrome:

 64
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 cryptorchidism64 HP:0000028
3 male pseudohermaphroditism64 HP:0000037

MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

41 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3AMH, AMHR2, CTNNB1, FGFR2, KIT, NOTCH2
2MP:00053778.0BMP4, BMP5, CTNNB1, FGFR2, KIT, SOX9
3MP:00053828.0BMP4, BMP5, CTNNB1, FGFR2, KIT, NOTCH2
4MP:00053697.8BMP4, CTNNB1, FGFR2, KIT, NOTCH2, SOX9
5MP:00053707.7BMP4, BMP5, CTNNB1, FGFR2, FURIN, KIT
6MP:00053817.6BMP4, BMP5, CTNNB1, FGFR2, FURIN, KIT
7MP:00107717.4AMHR2, BMP4, CTNNB1, FGFR2, FURIN, KIT
8MP:00053717.4BMP4, BMP5, CTNNB1, FGFR2, FURIN, KIT
9MP:00030127.4AMH, AMHR2, BMP4, CTNNB1, FGFR2, KIT
10MP:00053677.3AMHR2, BMP4, BMP5, CTNNB1, FGFR2, KIT
11MP:00053887.2AMHR2, BMP4, BMP5, CTNNB1, FGFR2, KIT
12MP:00053847.0AMHR2, BMP4, CTNNB1, FGFR2, INSL3, KIT
13MP:00028736.9BMP4, CTNNB1, FGFR2, FURIN, KIT, NOTCH2
14MP:00053786.7AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
15MP:00053906.5BMP4, BMP5, CTNNB1, FGFR2, INSL3, KIT
16MP:00053856.5AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
17MP:00053806.5AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
18MP:00107686.5AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
19MP:00053796.1AMH, AMHR2, BMP15, BMP4, BMP5, CTNNB1
20MP:00053896.0AMH, AMHR2, BMP15, BMP4, BMP5, CTNNB1

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 Syndrome27

Anatomical Context for Persistent Mullerian Duct Syndrome

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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

36
Uterus, Testes, Cervix, Testis, Kidney

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: a rare entity with a rare presentation in need of multidisciplinary management. (27532119)
2016
2
Persistent mullerian duct syndrome: A 24-year experience. (27329391)
2016
3
Persistent Mullerian Duct Syndrome with Ovarian Endometriosis-A Rare Case Report. (27042476)
2016
4
Persistent Mullerian Duct Syndrome with Embryonal Cell Carcinoma along with Ectopic Cross Fused Kidney. (26894123)
2016
5
Persistent mullerian duct syndrome presenting as retractile testis with hypospadias: A rare entity. (27326401)
2016
6
Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia. (27512542)
2015
7
Laparoscopic management of transverse testicular ectopia with persistent mullerian duct syndrome. (26195884)
2015
8
Laparoscopic hysterectomy with bilateral orchidectomy for Persistent Mullerian duct syndrome with seminoma testes: Case report. (26622120)
2015
9
A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome. (26181047)
2015
10
A case of testicular seminoma in persistent Mullerian duct syndrome with transverse testicular ectopia. (25504517)
2015
11
Female form of persistent mullerian duct syndrome: Rare entity. (25657558)
2015
12
Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. (25673601)
2015
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: A case report and review of the literature. (25143891)
2014
15
Persistent mullerian duct syndrome with transverse testicular ectopia: rare entity. (24783120)
2014
16
Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma. (24554220)
2014
17
Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review. (23671501)
2013
18
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
19
Persistent Mullerian Duct Syndrome: an interesting case report. (24045516)
2013
20
Robot-assisted Laparoscopic Hysterectomy, Gonadal Biopsy, and Orchiopexies in an Infant With Persistent Mullerian Duct Syndrome. (24246315)
2013
21
Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. (23801478)
2013
22
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. (23162363)
2012
23
Persistent Mullerian duct syndrome: a rare cause of unilateral cryptorchidism. (22977013)
2012
24
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. (22185203)
2011
25
Persistent mullerian duct syndrome in adult men diagnosed using laparoscopy. (21256537)
2011
26
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases. (22022070)
2011
27
Transverse testicular ectopia and persistent Mullerian duct syndrome: video-assisted treatment. (19360556)
2010
28
Testicular fusion in a patient with transverse testicular ectopia and persistent mullerian duct syndrome. (20092878)
2010
29
Persistent Mullerian duct syndrome: a case-based algorithm. (20509098)
2010
30
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. (18954385)
2010
31
Persistent Mullerian duct syndrome: a case report and review of the literature. (20859029)
2010
32
Persistent mullerian duct syndrome. (20352001)
2010
33
Persistent mullerian duct syndrome with an irreducible inguinal hernia. (20027561)
2009
34
Laparoscopic management of persistent mullerian duct syndrome. (19735801)
2009
35
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
36
Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging. (18559894)
2008
37
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. (18760051)
2008
38
Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage. (18547961)
2008
39
Tuberculosis of transverse testicular ectopic testis associated with persistent mullerian duct syndrome. (18474165)
2008
40
Persistent mullerian duct syndrome with transverse testicular ectopia. (17333518)
2007
41
Persistent Mullerian duct syndrome with transverse testicular ectopia presenting in an irreducible recurrent inguinal hernia. (17902529)
2007
42
Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management. (18082721)
2007
43
Persistent Mullerian duct syndrome with bilateral abdominal testis: surgical approach and review of the literature. (18947583)
2005
44
Persistent mullerian duct syndrome with transverse testicular ectopia. (15730845)
2005
45
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
46
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. (15499815)
2004
47
Persistent Mullerian duct syndrome associated with 47,XXY genotype. (14713842)
2004
48
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
49
Persistent mullerian duct syndrome--a case report. (12675189)
2002
50
A case of bilateral seminoma in the setting of persistent mullerian duct syndrome. (11421115)
2001

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:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
110.1AMH, AMHR2
29.7BMP4, FURIN
3
Show member pathways
9.4AMH, AMHR2, BMP4, BMP5
49.3CTNNB1, SOX9, SRY
59.3BMP4, CTNNB1, NOTCH2
69.2BMP4, NOTCH2, SOX9
79.1BMP15, BMP4, BMP5, CTNNB1
89.1AMHR2, BMP4, CTNNB1, NOTCH2
98.9AMH, BMP4, BMP5, CTNNB1, WNT7A
10
Show member pathways
8.8BMP4, CTNNB1, KIT, WNT7A
118.6BMP4, BMP5, KIT, SOX9
128.6BMP4, CTNNB1, FGFR2, WNT7A
13
Show member pathways
8.3BMP4, BMP5, CTNNB1, FGFR2, WNT7A
147.9BMP4, CTNNB1, FGFR2, NOTCH2, SOX9
157.9BMP4, CTNNB1, FGFR2, KIT, WNT7A
16
Show member pathways
7.3BMP15, BMP4, BMP5, CTNNB1, FGFR2, KIT

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
1nuclear transcription factor complexGO:00447989.5CTNNB1, SOX9
2cell surfaceGO:00099868.9FGFR2, FURIN, KIT, NOTCH2, WNT7A
3extracellular spaceGO:00056158.4AMH, BMP15, BMP4, BMP5, FURIN, KIT
4extracellular regionGO:00055768.0AMH, BMP15, BMP4, BMP5, FGFR2, FURIN

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

(show top 50)    (show all 88)
idNameGO IDScoreTop Affiliating Genes
1Mullerian duct regressionGO:000188010.9AMH, AMHR2
2gonad developmentGO:000840610.7AMH, WT1
3adrenal gland developmentGO:003032510.7NR5A1, WT1
4central nervous system vasculogenesisGO:002200910.6CTNNB1, WNT7A
5embryonic axis specificationGO:000057810.6CTNNB1, WNT7A
6negative regulation of female gonad developmentGO:200019510.6NR5A1, WT1
7oviduct developmentGO:006006610.6CTNNB1, WNT7A
8positive regulation of DNA-dependent DNA replicationGO:200010510.6BMP4, BMP5
9cell fate determinationGO:000170910.6CTNNB1, NOTCH2
10male sex determinationGO:003023810.5SOX9, SRY
11pulmonary valve morphogenesisGO:000318410.4BMP4, NOTCH2
12anterior/posterior axis specificationGO:000994810.4BMP4, CTNNB1
13positive regulation of branching involved in lung morphogenesisGO:006104710.4BMP4, CTNNB1
14positive regulation of endothelial cell differentiationGO:004560310.4BMP4, CTNNB1
15cell fate specificationGO:000170810.4CTNNB1, SOX9
16regulation of smooth muscle cell proliferationGO:004866010.3BMP4, CTNNB1
17positive regulation of epithelial cell differentiationGO:003085810.3CTNNB1, SOX9
18sex determinationGO:000753010.3AMH, NR5A1, WT1
19positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.3BMP15, BMP4, BMP5
20somatic stem cell divisionGO:004810310.3KIT, WNT7A
21positive regulation of cartilage developmentGO:006103610.3BMP4, SOX9
22smooth muscle cell differentiationGO:005114510.3BMP4, CTNNB1
23positive regulation of kidney developmentGO:009018410.3BMP4, SOX9
24gonadal mesoderm developmentGO:000750610.3AMH, TSPY1, TSPY10
25male genitalia developmentGO:003053910.3BMP5, CTNNB1, WT1
26type B pancreatic cell developmentGO:000332310.2BMP4, BMP5
27lymphoid progenitor cell differentiationGO:000232010.2BMP4, KIT
28SMAD protein signal transductionGO:006039510.2BMP15, BMP4, BMP5
29embryonic digit morphogenesisGO:004273310.2BMP4, CTNNB1, WNT7A
30embryonic hindlimb morphogenesisGO:003511610.2BMP4, CTNNB1, WNT7A
31trachea formationGO:006044010.1BMP4, CTNNB1
32chondrocyte differentiationGO:000206210.1BMP4, SOX9, WNT7A
33lung-associated mesenchyme developmentGO:006048410.0CTNNB1, FGFR2
34ossificationGO:000150310.0BMP4, BMP5, SOX9
35mesenchymal cell proliferation involved in lung developmentGO:006091610.0CTNNB1, FGFR2
36morphogenesis of embryonic epitheliumGO:001633110.0CTNNB1, FGFR2
37kidney developmentGO:000182210.0BMP4, CTNNB1, WT1
38sex differentiationGO:000754810.0AMH, AMHR2, SRY, TSPY1, WNT7A
39branching involved in prostate gland morphogenesisGO:006044210.0BMP4, FGFR2
40bud elongation involved in lung branchingGO:006044910.0BMP4, FGFR2
41membranous septum morphogenesisGO:000314910.0BMP4, FGFR2
42mesodermal cell differentiationGO:004833310.0BMP4, FGFR2
43regulation of osteoblast differentiationGO:004566710.0CTNNB1, FGFR2
44nucleosome assemblyGO:00063349.9SOX9, TSPY1, TSPY10
45ureter smooth muscle cell differentiationGO:00721939.9BMP4, SOX9
46lacrimal gland developmentGO:00328089.9FGFR2, SOX9
47limb bud formationGO:00601749.9FGFR2, SOX9
48regulation of branching involved in prostate gland morphogenesisGO:00606879.9BMP4, FGFR2
49regulation of cell fate commitmentGO:00104539.9BMP4, FGFR2
50BMP signaling pathwayGO:00305099.9AMH, AMHR2, BMP15, BMP4, BMP5

Molecular functions related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:007070010.4BMP4, BMP5
2cytokine activityGO:00051259.9BMP15, BMP4, BMP5, WNT7A
3growth factor activityGO:00080839.9AMH, BMP15, BMP4, BMP5
4transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.9NR5A1, SOX9, SRY
5protease bindingGO:00020209.7FURIN, INSL3, KIT
6transforming growth factor beta receptor bindingGO:00051609.3AMH, BMP15, BMP4, BMP5

Sources for Persistent Mullerian Duct Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet