PMDS
MCID: PRS049
MIFTS: 50

Persistent Mullerian Duct Syndrome (PMDS) malady

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

Aliases & Classifications for Persistent Mullerian Duct Syndrome

Aliases & Descriptions for Persistent Mullerian Duct Syndrome:

Name: Persistent Mullerian Duct Syndrome 12 50 14 25 29 42
Persistent Oviduct Syndrome 50 25
Pmds 50 25
Persistent Mullerian Duct Syndrome, Types 1 and 2 50
Female Genital Ducts in Otherwise Normal Male 50
Persistent Muellerian Duct Syndrome 12
Hernia Uteri Inguinale 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0050791
MeSH 42 C536665
NCIt 47 C120188
SNOMED-CT 64 702358005
UMLS 69 C1849930

Summaries for Persistent Mullerian Duct Syndrome

NIH Rare Diseases : 50 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 oviduct 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/superpathways are PAK Pathway and Pathways in cancer. Affiliated tissues include uterus, testes and cervix, and related phenotypes are endocrine/exocrine gland and cardiovascular system

Disease Ontology : 12 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

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)
id Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome, type ii 12.5
2 pelizaeus-merzbacher disease 12.0
3 seminoma 10.2
4 intramuscular hemangioma 10.2 AMH BMP15 SRY
5 palmoplantar keratoderma, bothnian type 10.2 AMH AMHR2
6 sphingolipidosis 10.2 AMH AMHR2 SRY
7 antisynthetase syndrome 10.2 INSL3 NR5A1 SRY
8 capillary lymphangioma 10.2 AMH NR5A1 SRY
9 acute gonococcal salpingitis 10.2 BMP15 NR5A1 SRY
10 inguinal hernia 10.2
11 third ventricle chordoid glioma 10.2 AMH AMHR2 WT1
12 spermatogenic failure, y-linked, 1 10.1 SOX9 SRY
13 spondylolysis 10.1 AMH BMP15 NR5A1
14 avoidant personality disorder 10.1 AMH BMP15 NR5A1 SRY
15 brucella melitensis brucellosis 10.1 AMHR2 SOX9 SRY
16 autosomal dominant optic atrophy and late-onset deafness 10.1 NR5A1 SOX9 SRY
17 splenic disease 10.1 INSL3 SOX9 SRY
18 breast ductal carcinoma 10.1 CTNNB1 WT1
19 farmer's lung 10.1 NR5A1 SOX9 SRY
20 cryptorchidism 10.0
21 choriocarcinoma 10.0 KIT WT1
22 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.0 AMH INSL3 NR5A1 WT1
23 8p23.1 duplication syndrome 10.0 BMP15 NR5A1 SOX9 SRY
24 exotropia 10.0 WNT7A WT1
25 testicular seminoma 10.0
26 crouzon syndrome 10.0 AMH FGFR2 NOTCH2
27 left ventricular noncompaction 10.0 FGFR2 WNT7A
28 deafness, autosomal recessive 51 9.9 AMH NR5A1 SOX9 SRY WT1
29 hypospadias 9.8
30 klinefelter's syndrome 9.8
31 endometriosis 9.8
32 teratoma 9.8
33 pseudohermaphroditism 9.8
34 tuberculosis 9.8
35 cerebral cavernous malformations-2 9.8 CTNNB1 NR5A1 SOX9 SRY WT1
36 pneumonia 9.8 FGFR2 KIT WT1
37 orofaciodigital syndrome x 9.7 KIT SOX9 SRY TSPY1 WT1
38 46 xx gonadal dysgenesis 9.7 AMH BMP15 NR5A1 SOX9 SRY TSPY1
39 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.6 BMP4 FGFR2 SOX9
40 benign essential hypertension 9.5 FGFR2 INSL3 NR5A1 SOX9 SRY WT1
41 cone dystrophy 7.9 AMH 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

Human phenotypes related to Persistent Mullerian Duct Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 cryptorchidism 32 HP:0000028
3 male pseudohermaphroditism 32 HP:0000037

MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.39 AMH AMHR2 BMP15 BMP4 BMP5 CTNNB1
2 cardiovascular system MP:0005385 10.37 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 FURIN
3 embryo MP:0005380 10.34 NOTCH2 NR5A1 SOX9 WNT7A WT1 AMHR2
4 cellular MP:0005384 10.28 AMHR2 BMP4 CTNNB1 FGFR2 INSL3 KIT
5 growth/size/body region MP:0005378 10.28 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 FURIN
6 mortality/aging MP:0010768 10.23 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 FURIN
7 digestive/alimentary MP:0005381 10.17 BMP4 BMP5 CTNNB1 FGFR2 FURIN KIT
8 integument MP:0010771 10.16 SOX9 WNT7A AMHR2 BMP4 CTNNB1 FGFR2
9 limbs/digits/tail MP:0005371 10.15 BMP4 BMP5 CTNNB1 FGFR2 FURIN KIT
10 craniofacial MP:0005382 10.12 FGFR2 KIT NOTCH2 SOX9 BMP4 BMP5
11 liver/biliary system MP:0005370 10.08 BMP4 BMP5 CTNNB1 FGFR2 FURIN KIT
12 hearing/vestibular/ear MP:0005377 10.07 BMP4 BMP5 CTNNB1 FGFR2 KIT SOX9
13 no phenotypic analysis MP:0003012 10.02 AMH AMHR2 BMP4 CTNNB1 FGFR2 KIT
14 normal MP:0002873 10.02 FURIN KIT NOTCH2 NR5A1 SOX9 WNT7A
15 reproductive system MP:0005389 10 FGFR2 INSL3 KIT NOTCH2 NR5A1 SOX9
16 muscle MP:0005369 9.98 CTNNB1 FGFR2 KIT NOTCH2 SOX9 WT1
17 neoplasm MP:0002006 9.95 AMH AMHR2 CTNNB1 FGFR2 KIT NOTCH2
18 renal/urinary system MP:0005367 9.91 BMP5 CTNNB1 FGFR2 KIT NOTCH2 SOX9
19 respiratory system MP:0005388 9.61 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 KIT
20 skeleton MP:0005390 9.28 BMP4 BMP5 CTNNB1 FGFR2 INSL3 KIT

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

Search Clinical Trials , NIH Clinical Center for Persistent Mullerian Duct Syndrome

Cochrane evidence based reviews: persistent müllerian duct syndrome

Genetic Tests for Persistent Mullerian Duct Syndrome

Genetic tests related to Persistent Mullerian Duct Syndrome:

id Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome 29

Anatomical Context for Persistent Mullerian Duct Syndrome

MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

39
Uterus, Testes, Cervix, Testis, Kidney

Publications for Persistent Mullerian Duct Syndrome

Articles related to Persistent Mullerian Duct Syndrome:

(show top 50) (show all 63)
id Title Authors Year
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

Expression for Persistent Mullerian Duct Syndrome

Search GEO for disease gene expression data for Persistent Mullerian Duct Syndrome.

Pathways for Persistent Mullerian Duct Syndrome

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

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 BMP15 BMP4 BMP5 CTNNB1 FGFR2 KIT
2 12.45 BMP4 CTNNB1 FGFR2 KIT WNT7A
3
Show member pathways
12.18 BMP4 CTNNB1 KIT WNT7A
4
Show member pathways
12.16 BMP4 BMP5 CTNNB1 FGFR2 WNT7A
5 12.04 AMHR2 BMP4 CTNNB1 NOTCH2
6 11.81 BMP4 CTNNB1 FGFR2 WNT7A
7 11.8 BMP4 CTNNB1 NOTCH2
8 11.62 BMP4 NOTCH2 SOX9
9 11.54 BMP4 BMP5 KIT SOX9
10 11.54 AMH BMP4 BMP5 CTNNB1 WNT7A
11 11.47 BMP15 BMP4 BMP5 CTNNB1
12 11.38 AMH AMHR2 BMP4 BMP5
13 11.21 CTNNB1 SOX9 SRY
14 11.03 BMP4 CTNNB1 FGFR2 NOTCH2 SOX9
15 10.59 AMH AMHR2
16 10.41 BMP4 FURIN

GO Terms for Persistent Mullerian Duct Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 AMH BMP15 BMP4 BMP5 FURIN KIT
2 cell surface GO:0009986 9.55 FGFR2 FURIN KIT NOTCH2 WNT7A
3 extracellular region GO:0005576 9.28 AMH BMP15 BMP4 BMP5 FGFR2 FURIN
4 nuclear transcription factor complex GO:0044798 8.96 CTNNB1 SOX9

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

(show top 50) (show all 88)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.98 BMP4 BMP5 CTNNB1 SOX9
2 positive regulation of transcription, DNA-templated GO:0045893 9.97 BMP15 BMP4 CTNNB1 NR5A1 SOX9 SRY
3 nucleosome assembly GO:0006334 9.94 SOX9 TSPY1 TSPY10
4 kidney development GO:0001822 9.94 BMP4 CTNNB1 WT1
5 lung development GO:0030324 9.93 BMP4 CTNNB1 FGFR2
6 ossification GO:0001503 9.93 BMP4 BMP5 SOX9
7 positive regulation of MAPK cascade GO:0043410 9.92 CTNNB1 FGFR2 KIT
8 hemopoiesis GO:0030097 9.91 CTNNB1 KIT NOTCH2
9 somatic stem cell population maintenance GO:0035019 9.9 KIT SOX9 WNT7A
10 SMAD protein signal transduction GO:0060395 9.89 BMP15 BMP4 BMP5
11 negative regulation of epithelial cell proliferation GO:0050680 9.88 BMP4 FGFR2 SOX9
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.88 FGFR2 SOX9 WNT7A
13 embryonic digit morphogenesis GO:0042733 9.88 BMP4 CTNNB1 WNT7A
14 stem cell population maintenance GO:0019827 9.88 CTNNB1 KIT NOTCH2
15 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.86 BMP15 BMP4 BMP5
16 ureteric bud development GO:0001657 9.86 BMP4 FGFR2 WT1
17 regulation of cell differentiation GO:0045595 9.85 BMP4 CTNNB1 SOX9
18 cell differentiation GO:0030154 9.85 AMH BMP4 BMP5 CTNNB1 NOTCH2 NR5A1
19 cartilage development GO:0051216 9.84 BMP4 BMP5 SOX9 WNT7A
20 chondrocyte differentiation GO:0002062 9.83 BMP4 SOX9 WNT7A
21 positive regulation of epithelial cell proliferation GO:0050679 9.83 BMP4 BMP5 FGFR2 SOX9
22 male gonad development GO:0008584 9.83 AMHR2 KIT NR5A1 SOX9 WT1
23 epithelial to mesenchymal transition GO:0001837 9.82 CTNNB1 FGFR2 SOX9
24 cell fate commitment GO:0045165 9.81 BMP4 FGFR2 SOX9 WNT7A
25 positive regulation of gene expression GO:0010628 9.8 AMH BMP4 CTNNB1 KIT NR5A1 SOX9
26 embryonic hindlimb morphogenesis GO:0035116 9.79 BMP4 CTNNB1 WNT7A
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.78 CTNNB1 FGFR2 SOX9
28 adrenal gland development GO:0030325 9.77 NR5A1 WT1
29 cell fate determination GO:0001709 9.76 CTNNB1 NOTCH2
30 anterior/posterior axis specification GO:0009948 9.76 BMP4 CTNNB1
31 positive regulation of cartilage development GO:0061036 9.76 BMP4 SOX9
32 cell fate specification GO:0001708 9.76 CTNNB1 SOX9
33 smooth muscle cell differentiation GO:0051145 9.76 BMP4 CTNNB1
34 regulation of osteoblast differentiation GO:0045667 9.76 CTNNB1 FGFR2
35 male genitalia development GO:0030539 9.76 BMP5 CTNNB1 WT1
36 branching involved in ureteric bud morphogenesis GO:0001658 9.76 BMP4 CTNNB1 SOX9 WT1
37 gonad development GO:0008406 9.75 AMH WT1
38 morphogenesis of embryonic epithelium GO:0016331 9.75 CTNNB1 FGFR2
39 male sex determination GO:0030238 9.75 SOX9 SRY
40 mesodermal cell differentiation GO:0048333 9.75 BMP4 FGFR2
41 type B pancreatic cell development GO:0003323 9.75 BMP4 BMP5
42 positive regulation of endothelial cell differentiation GO:0045603 9.74 BMP4 CTNNB1
43 limb bud formation GO:0060174 9.74 FGFR2 SOX9
44 lung-associated mesenchyme development GO:0060484 9.74 CTNNB1 FGFR2
45 tissue development GO:0009888 9.74 BMP4 NR5A1 WT1
46 membranous septum morphogenesis GO:0003149 9.73 BMP4 FGFR2
47 pulmonary valve morphogenesis GO:0003184 9.73 BMP4 NOTCH2
48 somatic stem cell division GO:0048103 9.73 KIT WNT7A
49 regulation of smooth muscle cell proliferation GO:0048660 9.73 BMP4 CTNNB1
50 negative regulation of chondrocyte differentiation GO:0032331 9.73 BMP4 CTNNB1 SOX9

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

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.54 FURIN INSL3 KIT
2 cytokine activity GO:0005125 9.46 BMP15 BMP4 BMP5 WNT7A
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 NR5A1 SOX9 SRY
4 BMP receptor binding GO:0070700 9.32 BMP4 BMP5
5 growth factor activity GO:0008083 9.26 AMH BMP15 BMP4 BMP5
6 transforming growth factor beta receptor binding GO:0005160 8.92 AMH BMP15 BMP4 BMP5

Sources for Persistent Mullerian Duct Syndrome

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43 MESH via Orphanet
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