MCID: PRS049
MIFTS: 49

Persistent Mullerian Duct Syndrome

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

Aliases & Classifications for Persistent Mullerian Duct Syndrome

MalaCards integrated aliases for Persistent Mullerian Duct Syndrome:

Name: Persistent Mullerian Duct Syndrome 12 54 38 30 6 45 15
Persistent Oviduct Syndrome 54 26
Pmds 54 26
Mullerian Duct Syndrome. Persistent, Types I and Ii 41
Persistent Mullerian Duct Syndrome, Types 1 and 2 54
Female Genital Ducts in Otherwise Normal Male 54
Persistent Muellerian Duct Syndrome 12
Persistent Müllerian Duct Syndrome 26
Hernia Uteri Inguinale 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0050791
KEGG 38 H00609
MeSH 45 C536665
NCIt 51 C120188
UMLS 74 C1849930

Summaries for Persistent Mullerian Duct Syndrome

NIH Rare Diseases : 54 Persistent Mullerian duct syndrome (PMDS) is a disorder of sexual development that affects males. Males with PMDS have normal male reproductive organs and normal male external genitalia. However, they also have a uterus and fallopian tubes (female reproductive organs). The uterus and fallopian tubes develop from a structure called the Müllerian duct, which is present in both male and female fetuses. It typically breaks down in males, but it remains in those with PMDS. Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias. The uterus and fallopian tubes are often incidentally noticed during surgery to treat these conditions. Other features of PMDS may include 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). It 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. If not treated, undescended testes may degenerate or develop cancer.

MalaCards based summary : Persistent Mullerian Duct Syndrome, also known as persistent oviduct syndrome, is related to persistent mullerian duct syndrome, types i and ii and cryptorchidism, unilateral or bilateral. An important gene associated with Persistent Mullerian Duct Syndrome is AMH (Anti-Mullerian Hormone), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and TGF-beta signaling pathway. 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, Types I and Ii

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome, types i and ii 34.8 AMH AMHR2
2 cryptorchidism, unilateral or bilateral 30.2 AMH AMHR2 INSL3 NR5A1 WT1
3 pseudohermaphroditism 30.1 AMH AMHR2 NR5A1 SRD5A2 WT1
4 hypospadias 28.9 FGFR2 INSL3 NR5A1 SOX9 SRD5A2 WT1
5 pelizaeus-merzbacher disease 12.4
6 spastic paraplegia 2, x-linked 11.6
7 microphthalmia, syndromic 9 11.3
8 pelizaeus-merzbacher-like disease 11.3
9 pelizaeus-merzbacher disease, classic form 11.1
10 pelizaeus-merzbacher disease, transitional form 11.1
11 leukodystrophy, hypomyelinating, 3 11.1
12 pellucid marginal degeneration 11.1
13 seminoma 10.5
14 inguinal hernia 10.4
15 freemartinism 10.3 AMH BMP15
16 anorchia 10.3 INSL3 NR5A1
17 testicular seminoma 10.3
18 gonadal disease 10.2 AMH BMP15 NR5A1
19 humeroradial synostosis 10.2 FGFR2 WNT7A
20 leiomyoma, uterine 10.1
21 leiomyoma 10.1
22 adenocarcinoma 10.1
23 testicular cancer 10.1
24 welander distal myopathy 10.1
25 polymyositis 10.1
26 hermaphroditism 10.1 SOX9 SRD5A2
27 physical disorder 10.1 AMH BMP4 INSL3
28 male reproductive organ benign neoplasm 10.1 NR5A1 WT1
29 mixed gonadal dysgenesis 10.1 AMH AMHR2 SOX9
30 ovarian disease 10.0 AMH BMP15 NR5A1
31 hypogonadotropic hypogonadism 10.0
32 endometriosis of ovary 10.0
33 endometriosis 10.0
34 teratoma 10.0
35 urinary tract obstruction 10.0
36 hydrocele 10.0
37 47, xxy 10.0
38 bowenoid papulosis 10.0
39 germ cells tumors 10.0
40 mixed germ cell tumor 10.0
41 chromosome 10q26 deletion syndrome 10.0 AMH FGFR2 NOTCH2
42 prostate cancer 10.0
43 prostate cancer, hereditary, 8 10.0
44 prostate cancer, hereditary, 6 10.0
45 lymphoma 10.0
46 sex development disorder 10.0
47 adenosarcoma 10.0
48 sertoli cell tumor 10.0
49 choriocarcinoma 10.0
50 clear cell adenocarcinoma 10.0

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

MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

47 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.45 AMH AMHR2 BMP15 BMP4 BMP5 CTNNB1
2 cardiovascular system MP:0005385 10.39 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 FURIN
3 embryo MP:0005380 10.36 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 FURIN
4 growth/size/body region MP:0005378 10.31 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 FURIN
5 cellular MP:0005384 10.3 AMHR2 BMP4 CTNNB1 FGFR2 INSL3 KIT
6 homeostasis/metabolism MP:0005376 10.28 AMH AMHR2 BMP4 BMP5 CTNNB1 FGFR2
7 mortality/aging MP:0010768 10.26 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 FURIN
8 hematopoietic system MP:0005397 10.2 AMHR2 BMP4 CTNNB1 FGFR2 FURIN KIT
9 digestive/alimentary MP:0005381 10.19 BMP4 BMP5 CTNNB1 FGFR2 FURIN KIT
10 integument MP:0010771 10.18 AMHR2 BMP4 CTNNB1 FGFR2 FURIN KIT
11 limbs/digits/tail MP:0005371 10.16 BMP4 BMP5 CTNNB1 FGFR2 FURIN KIT
12 craniofacial MP:0005382 10.14 BMP4 BMP5 CTNNB1 FGFR2 KIT NOTCH2
13 reproductive system MP:0005389 10.13 AMH AMHR2 BMP15 BMP4 BMP5 CTNNB1
14 hearing/vestibular/ear MP:0005377 10.1 BMP4 BMP5 CTNNB1 FGFR2 KIT SOX9
15 liver/biliary system MP:0005370 10.1 BMP4 BMP5 CTNNB1 FGFR2 FURIN KIT
16 no phenotypic analysis MP:0003012 10.1 AMH AMHR2 BMP4 CTNNB1 FGFR2 KIT
17 normal MP:0002873 10.07 BMP4 CTNNB1 FGFR2 FURIN KIT NOTCH2
18 muscle MP:0005369 10 BMP4 CTNNB1 FGFR2 KIT NOTCH2 SOX9
19 neoplasm MP:0002006 9.98 AMH AMHR2 CTNNB1 FGFR2 KIT NOTCH2
20 renal/urinary system MP:0005367 9.97 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 KIT
21 respiratory system MP:0005388 9.81 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 KIT
22 skeleton MP:0005390 9.61 BMP4 BMP5 CTNNB1 FGFR2 INSL3 KIT
23 vision/eye MP:0005391 9.17 BMP4 CTNNB1 FGFR2 KIT NOTCH2 SOX9

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

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

Cochrane evidence based reviews: persistent mullerian duct syndrome

Genetic Tests for Persistent Mullerian Duct Syndrome

Genetic tests related to Persistent Mullerian Duct Syndrome:

# Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome 30 AMH AMHR2

Anatomical Context for Persistent Mullerian Duct Syndrome

MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

42
Uterus, Testes, Cervix, Prostate, Testis, Ovary, Kidney

Publications for Persistent Mullerian Duct Syndrome

Articles related to Persistent Mullerian Duct Syndrome:

(show top 50) (show all 204)
# Title Authors Year
1
Pure Seminoma and Concurrent Aggressive Lymphoma: Case Report of a Patient With Persistent Müllerian Duct Syndrome. ( 30587405 )
2019
2
Persistent mullerian duct syndrome with mixed germ cell tumor of undescended testis: A case report. ( 30706895 )
2019
3
An unusual case of undescended testis: type II persistent Müllerian duct syndrome. ( 30853106 )
2019
4
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome. ( 30933950 )
2019
5
Hysterectomy in a Male! Rare Stigma of a Case of Persistent Mullerian Duct Syndrome. ( 30956499 )
2019
6
A unique case of aggressive uterine cancer in a 45-year-old man with persistent Müllerian duct syndrome. ( 31070141 )
2019
7
Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report. ( 31080737 )
2019
8
Sertoli Cell Tumour and Uterine Leiomyoma in Miniature Schnauzer Dogs with Persistent Müllerian Duct Syndrome Caused by Mutation in the AMHR2 Gene. ( 30173854 )
2018
9
Prostatic adenocarcinoma in the setting of persistent müllerian duct syndrome: a case report. ( 29137935 )
2018
10
Prevalence of the AMHR2 mutation in Miniature Schnauzers and genetic investigation of a Belgian Malinois with persistent Müllerian duct syndrome. ( 29194807 )
2018
11
Incidentally Discovered Persistent Müllerian Duct Syndrome in a 45-year-old male presenting with germ cell tumor and bilateral cryptorchidism: A rare case report and review of the literature. ( 29453163 )
2018
12
Management of the patients with persistent Müllerian duct syndrome: Is the ultimate goal testicular descent? ( 29511588 )
2018
13
Transverse testicular ectopia with persistent mullerian duct syndrome. ( 29669771 )
2018
14
A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome ( 29687786 )
2018
15
Case Report: Laparoscopic Approach for Orchiopexy in a 26-Year-Old Man with Accidentally Discovered Persistent Müllerian Duct Syndrome and Bilateral Undescended Testis. ( 29845116 )
2018
16
Correction to: Case Report: Laparoscopic Approach for Orchiopexy in a 26-Year-Old Man with Accidently Discovered Persistent Müllerian Duct Syndrome and Bilateral Undescended Testis by Noureldin ME, Tawfeek AM, and Shaker HS. J Endourol Case Rep 2018;4:75-77. DOI: 10.1089/cren.2018.0035. ( 30023430 )
2018
17
Persistent Müllerian Duct Syndrome in a German Shepherd Dog. ( 30086548 )
2018
18
Persistent Mullerian duct syndrome: Report of two cases with phenotypical immunohistochemical profiling. ( 30426882 )
2018
19
Persistent Mullerian Duct Syndrome: A Single-Center Experience. ( 30443115 )
2018
20
Transverse testicular ectopia associated with persistent Müllerian duct syndrome treated by transseptal orchiopexy: A case report. ( 30508918 )
2018
21
Persistent Mullerian Duct Syndrome with Testicular Seminoma in Transverse Testicular Ectopia. ( 30568363 )
2018
22
Management of Transverse Testicular Ectopia with Persistent Mullerian Duct Syndrome. ( 30859168 )
2018
23
Persistent Mullerian Duct Syndrome Presenting in an Incarcerated Recurrent Inguinal Hernia with Hydrocele. ( 28331809 )
2017
24
Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers. ( 27515263 )
2017
25
Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation. ( 28094762 )
2017
26
Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome. ( 28142151 )
2017
27
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases. ( 28528332 )
2017
28
Coincidence of Persistent Müllerian duct syndrome and testicular tumors in dogs. ( 28576146 )
2017
29
Radiological Findings in Persistent Müllerian Duct Syndrome: Case Report and Review of Literature. ( 28584567 )
2017
30
A rare case of male pseudohermaphroditism-persistent mullerian duct syndrome with transverse testicular ectopia - Case report and review of literature. ( 28645010 )
2017
31
Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene. ( 28742509 )
2017
32
MRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report. ( 28764266 )
2017
33
Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management. ( 28792189 )
2017
34
REPLY BY THE AUTHORS: Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management. ( 28792190 )
2017
35
Persistent Müllerian duct syndrome: A case report and review. ( 29285121 )
2017
36
A Novel Mutation of AMHR2 In Two Siblings with Persistent Müllerian Duct Syndrome. ( 29332065 )
2017
37
Persistent Mullerian Duct Syndrome with Ovarian Endometriosis-A Rare Case Report. ( 27042476 )
2016
38
Persistent mullerian duct syndrome presenting as retractile testis with hypospadias: A rare entity. ( 27326401 )
2016
39
Persistent Müllerian duct syndrome of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis. ( 27166045 )
2016
40
Preservation of müllerian structures with laparoscopic management of intra-abdominal testes in persistent müllerian duct syndrome. ( 26619795 )
2016
41
Persistent Mullerian Duct Syndrome with Embryonal Cell Carcinoma along with Ectopic Cross Fused Kidney. ( 26894123 )
2016
42
Persistent mullerian duct syndrome: A 24-year experience. ( 27329391 )
2016
43
Operative considerations for late-presenting persistent Müllerian duct syndrome. ( 27453663 )
2016
44
Persistent Müllerian Duct Syndrome Caused by a Novel Mutation of an Anti-MüIlerian Hormone Receptor Gene: Case Presentation and Literature Review. ( 27464416 )
2016
45
Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management. ( 27532119 )
2016
46
Laparoscopically assisted treatment of transverse testicular ectopia with persistent Müllerian duct syndrome: a case report and review of the literature. ( 27895452 )
2016
47
Bilateral Cryptorchidism, a rare presentation for persistent Müllerian duct syndrome. ( 28163853 )
2016
48
Persistent Müllerian duct syndrome (PMDS) in the Polish free-ranged bull populations of the European bison (Bison bonasus L.). ( 25498147 )
2015
49
A case of testicular seminoma in persistent Mullerian duct syndrome with transverse testicular ectopia. ( 25504517 )
2015
50
Female form of persistent mullerian duct syndrome: Rare entity. ( 25657558 )
2015

Variations for Persistent Mullerian Duct Syndrome

ClinVar genetic disease variations for Persistent Mullerian Duct Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AMH NM_000479.4(AMH): c.146G> T (p.Ser49Ile) single nucleotide variant Benign rs10407022 GRCh38 Chromosome 19, 2249478: 2249478
2 AMH NM_000479.4(AMH): c.146G> T (p.Ser49Ile) single nucleotide variant Benign rs10407022 GRCh37 Chromosome 19, 2249477: 2249477
3 AMH NM_000479.4(AMH): c.1239T> A (p.Gly413=) single nucleotide variant Benign rs7252789 GRCh38 Chromosome 19, 2251513: 2251513
4 AMH NM_000479.4(AMH): c.1239T> A (p.Gly413=) single nucleotide variant Benign rs7252789 GRCh37 Chromosome 19, 2251512: 2251512
5 AMHR2 NM_020547.3(AMHR2): c.622-6C> T single nucleotide variant Benign rs2071558 GRCh37 Chromosome 12, 53819467: 53819467
6 AMHR2 NM_020547.3(AMHR2): c.622-6C> T single nucleotide variant Benign rs2071558 GRCh38 Chromosome 12, 53425683: 53425683

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 KEGG:

38
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 TGF-beta signaling pathway hsa04350

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

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 BMP4 BMP5 CTNNB1 FGFR2 KIT WNT7A
2
Show member pathways
13.07 BMP15 BMP4 BMP5 CTNNB1 FGFR2 KIT
3
Show member pathways
12.88 BMP15 BMP4 BMP5 CTNNB1 WNT7A
4
Show member pathways
12.83 CTNNB1 FGFR2 KIT NOTCH2 WNT7A
5
Show member pathways
12.56 CTNNB1 FGFR2 KIT NOTCH2 WNT7A
6 12.46 BMP4 CTNNB1 FGFR2 KIT NOTCH2 WNT7A
7
Show member pathways
12.35 AMH BMP4 CTNNB1 MIR4321
8
Show member pathways
12.2 BMP4 BMP5 CTNNB1 FGFR2 KIT
9
Show member pathways
12.16 BMP4 BMP5 CTNNB1 FGFR2 WNT7A
10
Show member pathways
12.1 BMP4 BMP5 FGFR2 KIT
11 12.04 AMHR2 BMP4 CTNNB1 NOTCH2
12 11.92 BMP4 SOX9 WT1
13
Show member pathways
11.92 BMP15 BMP4 BMP5 FGFR2
14 11.82 BMP4 CTNNB1 NOTCH2
15 11.82 BMP15 BMP4 BMP5 CTNNB1
16 11.81 BMP4 CTNNB1 FGFR2 WNT7A
17 11.61 BMP4 NOTCH2 SOX9
18 11.54 AMH BMP4 BMP5 CTNNB1 WNT7A
19 11.44 BMP15 BMP4 BMP5 CTNNB1
20 11.43 AMH AMHR2 BMP4 BMP5
21 11.03 BMP4 CTNNB1 FGFR2 NOTCH2 SOX9
22 10.85 BMP15 BMP4 BMP5 FGFR2 KIT
23 10.6 AMH AMHR2
24 10.43 BMP4 FURIN

GO Terms for Persistent Mullerian Duct Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.65 FGFR2 FURIN KIT NOTCH2 WNT7A
2 extracellular space GO:0005615 9.56 AMH BMP15 BMP4 BMP5 FURIN INSL3
3 receptor complex GO:0043235 9.46 AMHR2 FGFR2 KIT NOTCH2
4 extracellular region GO:0005576 9.28 AMH BMP15 BMP4 BMP5 FGFR2 FURIN

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

(show top 50) (show all 92)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.99 CTNNB1 KIT SOX9 WNT7A
2 skeletal system development GO:0001501 9.96 BMP4 BMP5 CTNNB1 SOX9
3 positive regulation of MAPK cascade GO:0043410 9.95 CTNNB1 FGFR2 KIT
4 kidney development GO:0001822 9.94 BMP4 CTNNB1 WT1
5 lung development GO:0030324 9.93 BMP4 CTNNB1 FGFR2
6 ossification GO:0001503 9.92 BMP4 BMP5 SOX9
7 hemopoiesis GO:0030097 9.91 CTNNB1 KIT NOTCH2
8 negative regulation of epithelial cell proliferation GO:0050680 9.91 BMP4 FGFR2 SOX9
9 cellular response to transforming growth factor beta stimulus GO:0071560 9.9 FGFR2 SOX9 WNT7A
10 cell development GO:0048468 9.89 BMP15 BMP4 BMP5
11 regulation of MAPK cascade GO:0043408 9.89 BMP15 BMP4 BMP5
12 SMAD protein signal transduction GO:0060395 9.89 BMP15 BMP4 BMP5
13 embryonic digit morphogenesis GO:0042733 9.89 BMP4 CTNNB1 WNT7A
14 stem cell population maintenance GO:0019827 9.88 CTNNB1 KIT NOTCH2
15 somatic stem cell population maintenance GO:0035019 9.87 KIT SOX9 WNT7A
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.86 BMP15 BMP4 BMP5
17 cartilage development GO:0051216 9.86 BMP4 BMP5 SOX9 WNT7A
18 cell fate commitment GO:0045165 9.85 BMP4 FGFR2 SOX9 WNT7A
19 ureteric bud development GO:0001657 9.84 BMP4 FGFR2 WT1
20 positive regulation of epithelial cell proliferation GO:0050679 9.84 BMP4 BMP5 FGFR2 SOX9
21 chondrocyte differentiation GO:0002062 9.83 BMP4 SOX9 WNT7A
22 regulation of cell differentiation GO:0045595 9.83 BMP4 CTNNB1 SOX9
23 epithelial to mesenchymal transition GO:0001837 9.82 CTNNB1 FGFR2 SOX9
24 embryonic hindlimb morphogenesis GO:0035116 9.8 BMP4 CTNNB1 WNT7A
25 BMP signaling pathway GO:0030509 9.8 AMH AMHR2 BMP15 BMP4 BMP5
26 negative regulation of apoptotic process GO:0043066 9.8 BMP4 CTNNB1 NOTCH2 SOX9 WNT7A WT1
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.79 CTNNB1 FGFR2 SOX9
28 hindbrain development GO:0030902 9.77 BMP5 CTNNB1
29 cartilage condensation GO:0001502 9.77 SOX9 WNT7A
30 cell fate specification GO:0001708 9.77 CTNNB1 SOX9
31 cell fate determination GO:0001709 9.77 CTNNB1 NOTCH2
32 tissue development GO:0009888 9.77 BMP4 NR5A1 WT1
33 positive regulation of endothelial cell differentiation GO:0045603 9.76 BMP4 CTNNB1
34 positive regulation of cartilage development GO:0061036 9.76 BMP4 SOX9
35 anterior/posterior axis specification GO:0009948 9.76 BMP4 CTNNB1
36 pulmonary valve morphogenesis GO:0003184 9.76 BMP4 NOTCH2
37 regulation of osteoblast differentiation GO:0045667 9.76 CTNNB1 FGFR2
38 smooth muscle cell differentiation GO:0051145 9.76 BMP4 CTNNB1
39 gonad development GO:0008406 9.76 AMH WT1
40 male sex determination GO:0030238 9.76 NR5A1 SOX9
41 branching involved in ureteric bud morphogenesis GO:0001658 9.76 BMP4 CTNNB1 SOX9 WT1
42 positive regulation of gene expression GO:0010628 9.76 AMH BMP4 CTNNB1 KIT NR5A1 SOX9
43 mesodermal cell differentiation GO:0048333 9.75 BMP4 FGFR2
44 negative regulation of pri-miRNA transcription by RNA polymerase II GO:1902894 9.75 BMP4 SOX9
45 type B pancreatic cell development GO:0003323 9.75 BMP4 BMP5
46 morphogenesis of embryonic epithelium GO:0016331 9.75 CTNNB1 FGFR2
47 limb bud formation GO:0060174 9.75 FGFR2 SOX9
48 negative regulation of chondrocyte differentiation GO:0032331 9.75 BMP4 CTNNB1 SOX9
49 membranous septum morphogenesis GO:0003149 9.74 BMP4 FGFR2
50 somatic stem cell division GO:0048103 9.74 KIT WNT7A

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.5 FURIN INSL3 KIT
2 cytokine activity GO:0005125 9.46 BMP15 BMP4 BMP5 WNT7A
3 BMP receptor binding GO:0070700 9.26 BMP4 BMP5
4 growth factor activity GO:0008083 9.26 AMH BMP15 BMP4 BMP5
5 transforming growth factor beta receptor binding GO:0005160 8.92 AMH BMP15 BMP4 BMP5

Sources for Persistent Mullerian Duct Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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