MCID: PRS049
MIFTS: 56

Persistent Mullerian Duct Syndrome malady

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Persistent Mullerian Duct Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 23Genetics Home Reference, 51Orphanet, 24GTR, 36MeSH, 59SNOMED-CT, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Persistent Mullerian Duct Syndrome:

Name: Persistent Mullerian Duct Syndrome 10 45 12
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

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

Classifications:



External Ids:

Disease Ontology10 DOID:0050791
MeSH36 C536665
Orphanet51 2856
SNOMED-CT59 702358005
ICD10 via Orphanet28 Q55.8
MESH via Orphanet37 C536665
UMLS via Orphanet66 C1849930
UMLS65 C1849930

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 pelizaeus-merzbacher disease, 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 Glypican 3 network. Affiliated tissues include uterus, testes and cervix, and related mouse phenotypes are tumorigenesis and liver/biliary 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 85)
idRelated DiseaseScoreTop Affiliating Genes
1persistent mullerian duct syndrome, type ii12.9
2pelizaeus-merzbacher disease12.0
3pelizaeus-merzbacher disease, connatal form11.4
4diabetes insipidus, nephrogenic10.4AMH, AMHR2
5prostate cancer10.4
6prostatitis10.4
7hypoxia10.4
8uremic neuropathy10.4AMH, BMP15, SRY
9hypogonadism10.4AMH, AMHR2, SRY
10actg2-related disorders10.4NR5A1, SRY
11disease of mental health10.3AMH, BMP15, SRY
12hidradenitis suppurativa10.3AMH, NR5A1, SRY
13leptospirosis10.3AMH, BMP15, NR5A1
14anorectal atresia10.3INSL3, NR5A1, SRY
15urinary schistosomiasis10.3BMP15, NR5A1, SRY
16microglandular adenosis10.2SRY, TGFBI
17rheumatoid arthritis10.2
18malaria10.2
19lung cancer10.2
20hiv-110.2
21cinca syndrome10.2
22breast cancer10.2
23renal cell carcinoma10.2
24xeroderma pigmentosum, group d10.2
25arthritis10.2
26autistic disorder10.2
27b-cell lymphomas10.2
28dilated cardiomyopathy10.2
29hepatitis10.2
30liver disease10.2
31lambert-eaton myasthenic syndrome10.2
32lymphoma10.2
33esophagitis10.2
34hemolytic-uremic syndrome10.2
35leiomyoma10.2
36gout10.2
37megaloblastic anemia10.2
38loiasis10.2
39candidiasis10.2
40hepatitis c10.2
41leiomyosarcoma10.2
42chronic mucocutaneous candidiasis10.2
43factor xiii deficiency10.2
44adenocarcinoma10.2
45placental site trophoblastic tumor10.2
46polyradiculoneuropathy10.2
47erdheim-chester disease10.2
48poliomyelitis10.2
49chronic inflammatory demyelinating polyradiculoneuropathy10.2
50pneumonia10.2

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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Anatomical Context for Persistent Mullerian Duct Syndrome

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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

33
Uterus, Testes, Cervix, Endothelial, Ovary, T cells, Neutrophil

Animal Models for Persistent Mullerian Duct Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

38 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020067.8AMH, AMHR2, CTNNB1, FGFR2, KIT, NOTCH2
2MP:00053707.4BMP4, BMP5, CTNNB1, FGFR2, FURIN, KIT
3MP:00030127.2AMH, AMHR2, BMP4, CTNNB1, FGFR2, KIT
4MP:00053717.2BMP4, BMP5, CTNNB1, FGFR2, FURIN, KIT
5MP:00028736.9BMP4, CTNNB1, FGFR2, FURIN, KIT, NOTCH2
6MP:00053826.8BMP4, BMP5, CTNNB1, FGFR2, KIT, NOTCH2
7MP:00053886.8AMHR2, BMP4, BMP5, CTNNB1, FGFR2, KIT
8MP:00053776.7BMP4, BMP5, CTNNB1, FGFR2, KIT, PLP1
9MP:00053696.7BMP4, CTNNB1, FGFR2, KIT, NOTCH2, PLP1
10MP:00053676.7AMHR2, BMP4, BMP5, CTNNB1, FGFR2, KIT
11MP:00053916.7BMP4, CTNNB1, FGFR2, KIT, NOTCH2, PLP1
12MP:00053816.6BMP4, BMP5, CTNNB1, FGFR2, FURIN, KIT
13MP:00107716.5AMHR2, BMP4, CTNNB1, FGFR2, FURIN, KIT
14MP:00053806.1AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
15MP:00053906.0BMP4, BMP5, CTNNB1, FGFR2, INSL3, KIT
16MP:00053875.9AMHR2, BMP5, CTNNB1, FGFR2, FURIN, KIT
17MP:00053865.8BMP4, BMP5, CTNNB1, FGFR2, INSL3, KIT
18MP:00053845.7AMHR2, BMP4, CTNNB1, FGFR2, KIT, NOTCH2
19MP:00053795.7AMH, AMHR2, BMP15, BMP4, BMP5, CTNNB1
20MP:00036315.6BMP4, CTNNB1, FGFR2, FURIN, KIT, NOTCH2
21MP:00053765.5AMH, AMHR2, BMP4, CTNNB1, FGFR2, KIT
22MP:00053975.4AMHR2, BMP4, CTNNB1, FGFR2, FURIN, KIT
23MP:00053855.3AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
24MP:00053785.0AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
25MP:00053894.9AMH, AMHR2, BMP15, BMP4, BMP5, CTNNB1
26MP:00107684.8AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN

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
Lysyl Oxidase Activity Is Required for Ordered Collagen Fibrillogenesis by Tendon Cells. (25979340)
2015
2
Male infertility: a public health issue caused by sexually transmitted pathogens. (25330794)
2014
3
Polycystic Ovary Syndrome: Perceptions and Attitudes of Women and Primary Health Care Physicians on Features of PCOS and Renaming the Syndrome. (24178791)
2014
4
Pseudo-subarachnoid hemorrhage in cryptococcal meningitis: MRI findings and pathological study. (23703398)
2013
5
Predictive value of 1 month retinal nerve fiber layer thinning for deficits at 6 months after acute optic neuritis. (23698127)
2013
6
Irreversible myelopathy associated with nelaribine in T-cell acute lymphoblastic leukemia. (23715575)
2013
7
Efficacy and safety of methotrexate in combination with other non-biologic disease-modifying antirheumatic drugs (DMARDs) in treatment of rheumatoid arthritis. (24219037)
2013
8
Serum uric acid and gout: from the past to molecular biology. (23621555)
2013
9
Qualification of a homogeneous cell-based neonatal Fc receptor (FcRn) binding assay and its application to studies on Fc functionality of IgG-based therapeutics. (23384837)
2013
10
Toward changing of the pathophysiologic basis of acute hydrocephalus after subarachnoid hemorrhage: a preliminary experimental study. (23247027)
2013
11
An unusual case of Ogilvie syndrome in a pediatric oncology patient receiving palliative care after failed treatment with neostigmine. (22946581)
2012
12
Co-localization of Protein Z, Protein Z-Dependent protease inhibitor and coagulation factor X in human colon cancer tissue: implications for coagulation regulation on tumor cells. (22424030)
2012
13
Trichinellosis, another helminthiasis affecting the central nervous system. (21292025)
2011
14
Relationship between polymorphisms of myeloperoxidase gene and susceptibility of acute leukemia in Chinese Gansu population]. (21176345)
2010
15
A spectrum of severe familial liver disorders associate with telomerase mutations. (19936245)
2009
16
Down-regulation of extracellular signal-regulated kinase 1/2 activity in P-glycoprotein-mediated multidrug resistant hepatocellular carcinoma cells. (19322916)
2009
17
Risk factors for neurological complications in complete hemolytic uremic syndrome caused by Escherichia coli O157. (19405919)
2009
18
Relationship between DNA methylation and expressions of p57kip2 in hepatocellular carcinoma]. (19785964)
2009
19
Statin-associated focal myositis. (18155787)
2009
20
Pre- and post-natal treatment of hemophagocytic lymphohistiocytosis. (18819128)
2009
21
Travelling wave velocity test and MAcniA"re's disease revisited. (18172660)
2008
22
Inhibitor of DNA binding 1 activates vascular endothelial growth factor through enhancing the stability and activity of hypoxia-inducible factor-1alpha. (17426247)
2007
23
Chromosomal abnormalities associated with neural tube defects (II): partial aneuploidy. (18182339)
2007
24
Endothelial dysfunction: mechanisms of development and therapeutic options]. (17140033)
2006
25
Outcomes of continent catheterizable stomas for urinary and fecal incontinence: comparison among different tissue options. (15839931)
2005
26
The src-family kinase inhibitor PP2 suppresses the in vitro invasive phenotype of bladder carcinoma cells via modulation of Akt. (16042741)
2005
27
Identification and characterization of phosphoseryl-tRNA[Ser]Sec kinase. (15317934)
2004
28
Acute effects of smoking on left ventricular function and neuro-humoral responses in patients with known or suspected ischaemic heart disease. (15233836)
2004
29
Leptin: a potential marker of placental insufficiency. (12865594)
2003
30
Cyclosporiasis outbreak in Germany associated with the consumption of salad. (12194782)
2002
31
Diversifying selection of the tumor-growth promoter angiogenin in primate evolution. (11919285)
2002
32
Retinoic acid suppresses endothelin-1 gene expression at the transcription level in endothelial cells. (11730831)
2001
33
Cerebral sinovenous thrombosis in children. (11496852)
2001
34
Role of the C5b-9 complement complex in cell cycle and apoptosis. (11414362)
2001
35
KB-R7943. Kanebo. (11892938)
2001
36
Calcaneal osteosarcoma associated with Werner syndrome. A case report with mutation analysis. (11005522)
2000
37
The gene for cytoplasmatic malate dehydrogenase, Mor2, is closely linked to the wobbler spinal muscular atrophy gene (wr). (9162260)
1996
38
LPS-induced release of EGF, GM-CSF, GRO alpha, LIF, MIP-1 alpha and PDGF-AB in PBMC from persons with high or low levels of HDL lipoprotein. (8580373)
1995
39
Cyclooxygenase-dependent formation of the isoprostane, 8-epi prostaglandin F2 alpha. (7730359)
1995
40
cDNA cloning and functional characterization of a meiosis-specific protein (MNS1) with apparent nuclear association. (8032679)
1994
41
Hyperfibers and vesicles in dentin matrix in dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI). (7823299)
1994
42
Intraarterial calcium stimulation test for detection of insulinomas. (8362527)
1993
43
Diagnosis of arteriogenic impotence: efficacy of duplex sonography as a screening tool. (8416650)
1993
44
Characterization of four doxorubicin adapted human breast cancer cell lines with respect to chemotherapeutic drug sensitivity, drug resistance associated membrane proteins and glutathione transferases. (7902062)
1993
45
Acute lymphoblastic leukaemia--a study of immunophenotypes. (1597922)
1992
46
Generalized granuloma annulare: histopathology and immunopathology. Systematic review of 100 cases and comparison with localized granuloma annulare. (2464013)
1989
47
Pyomyositis--an under-reported disease in temperate climates. (3063759)
1988
48
Lassa fever. Virological and serological studies. (4625715)
1972
49
A survey of trichinosis among black bears in Vermont. (5690171)
1968
50
LUNG CARCINOMA, HYPOURICEMIA AND AMINOACIDURIA. (14338303)
1965

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 22)
idSuper pathwaysScoreTop Affiliating Genes
110.1AMH, AMHR2
29.6BMP4, FURIN
39.4CTNNB1, FURIN, NOTCH2
4
Show member pathways
9.3CTNNB1, FURIN, NOTCH2
5
Show member pathways
9.2BMP4, FURIN, TGFB1
69.2CTNNB1, SOX9, SRY
79.1BMP4, CTNNB1, TGFB1
89.1BMP15, BMP4, BMP5, TGFB1
99.0BMP4, NOTCH2, SOX9
10
Show member pathways
8.9BMP4, NOTCH2, SOX9
11
Show member pathways
8.9BMP4, NOTCH2, SOX9
128.9AMH, BMP4, CTNNB1, TGFB1
138.8BMP4, CTNNB1, FGFR2, WNT7A
148.7BMP4, KIT, TGFB1
15
Show member pathways
8.5BMP4, CTNNB1, KIT, WNT7A
168.4AMH, BMP4, BMP5, CTNNB1, TGFB1, WNT7A
17
Show member pathways
8.1BMP4, BMP5, CTNNB1, FGFR2, TGFB1, WNT7A
188.1BMP4, CTNNB1, FGFR2, NOTCH2, SOX9
197.9BMP4, BMP5, KIT, SOX9, TGFB1
207.5BMP4, CTNNB1, FGFR2, KIT, TGFB1, WNT7A
21
Show member pathways
7.3BMP4, BMP5, CTNNB1, FGFR2, KIT, TGFB1
22
Show member pathways
7.0BMP15, 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:00447989.4CTNNB1, SOX9

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

(show top 50)    (show all 73)
idNameGO IDScoreTop Affiliating Genes
1embryonic axis specificationGO:000057810.4CTNNB1, WNT7A
2positive regulation of DNA-dependent DNA replicationGO:200010510.4BMP4, BMP5
3sex differentiationGO:000754810.4AMH, AMHR2, WNT7A
4common-partner SMAD protein phosphorylationGO:000718210.2BMP4, TGFB1
5regulation of cartilage developmentGO:006103510.2BMP4, TGFB1
6male sex determinationGO:003023810.2SOX9, SRY
7positive regulation of extracellular matrix assemblyGO:190120310.1SOX9, TGFB1
8regulation of protein import into nucleusGO:004230610.1BMP4, TGFB1
9trachea formationGO:006044010.1BMP4, CTNNB1
10lung-associated mesenchyme developmentGO:006048410.1CTNNB1, FGFR2
11mesenchymal cell proliferation involved in lung developmentGO:006091610.1CTNNB1, FGFR2
12branching involved in prostate gland morphogenesisGO:006044210.1BMP4, FGFR2
13positive regulation of branching involved in lung morphogenesisGO:006104710.1BMP4, CTNNB1
14positive regulation of endothelial cell differentiationGO:004560310.1BMP4, CTNNB1
15regulation of morphogenesis of a branching structureGO:006068810.1BMP4, FGFR2
16mesodermal cell differentiationGO:004833310.1BMP4, FGFR2
17lacrimal gland developmentGO:003280810.1FGFR2, SOX9
18regulation of smooth muscle cell differentiationGO:005115010.0BMP4, FGFR2
19BMP signaling pathwayGO:00305099.9BMP15, BMP4, BMP5
20otic vesicle formationGO:00309169.8FGFR2, SOX9
21regulation of branching involved in prostate gland morphogenesisGO:00606879.8BMP4, FGFR2
22embryonic hindlimb morphogenesisGO:00351169.8BMP4, CTNNB1, WNT7A
23lymphoid progenitor cell differentiationGO:00023209.8BMP4, KIT
24cellular response to transforming growth factor beta stimulusGO:00715609.8SOX9, TGFB1, WNT7A
25cartilage developmentGO:00512169.7BMP5, SOX9, WNT7A
26SMAD protein signal transductionGO:00603959.7BMP4, BMP5, TGFB1
27growthGO:00400079.7BMP4, BMP5, TGFB1
28negative regulation of chondrocyte differentiationGO:00323319.5BMP4, CTNNB1, SOX9
29prostate gland morphogenesisGO:00605129.5BMP4, FGFR2, SOX9
30positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.5BMP15, BMP4, BMP5, TGFB1
31negative regulation of myoblast differentiationGO:00456629.4BMP4, SOX9, TGFB1
32ureteric bud developmentGO:00016579.4BMP4, FGFR2, TGFB1
33regulation of cell differentiationGO:00455959.4BMP4, CTNNB1, SOX9
34T cell differentiationGO:00302179.4CTNNB1, KIT, TGFB1
35ovarian follicle developmentGO:00015419.4BMP15, BMP4, KIT
36stem cell population maintenanceGO:00198279.4CTNNB1, KIT, NOTCH2
37digestive tract developmentGO:00485659.3FGFR2, KIT, TGFB1
38cell fate commitmentGO:00451659.1BMP4, FGFR2, SOX9, WNT7A
39angiogenesisGO:00015259.0BMP4, FGFR2, TGFBI, WNT7A
40response to estradiolGO:00323559.0BMP4, CTNNB1, TGFB1, WNT7A
41chondrocyte differentiationGO:00020629.0BMP4, SOX9, TGFB1, TGFBI, WNT7A
42epithelial to mesenchymal transitionGO:00018378.9CTNNB1, FGFR2, SOX9, TGFB1
43response to organic cyclic compoundGO:00140708.8AMH, BMP4, CTNNB1, TGFB1
44negative regulation of cell proliferationGO:00082858.6BMP4, BMP5, INSL3, SOX9, TGFB1
45negative regulation of epithelial cell proliferationGO:00506808.6BMP4, FGFR2, SOX9, TGFB1
46positive regulation of cell proliferationGO:00082848.6BMP4, INSL3, SOX9, TGFB1, WNT7A
47positive regulation of transcription, DNA-templatedGO:00458938.2BMP4, CTNNB1, NR5A1, SOX9, SRY, TGFB1
48regulation of cell proliferationGO:00421278.0CTNNB1, KIT, SOX9, TGFB1, WNT7A
49positive regulation of transcription from RNA polymerase II promoterGO:00459447.9BMP4, BMP5, FGFR2, NR5A1, SOX9, TGFB1
50positive regulation of gene expressionGO:00106286.9AMH, BMP4, CTNNB1, KIT, SOX9, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:000516010.0AMH, BMP5

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