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PMDS
MCID: PRS049
MIFTS: 50
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Persistent Mullerian Duct Syndrome (PMDS)
Categories:
Blood diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Persistent Mullerian Duct Syndrome:
Classifications:
MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases Fetal diseases Anatomical: Endocrine diseases Reproductive diseases Blood diseases |
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Genetics Home Reference :
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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.
The first noted signs and symptoms in males with persistent Müllerian duct syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are typically discovered when surgery is performed to treat these conditions.
The testes and female reproductive organs can be located in unusual positions in persistent Müllerian duct syndrome. Occasionally, both testes are undescended (bilateral cryptorchidism) and the uterus is in the pelvis. More often, one testis has descended into the scrotum normally, and one has not. Sometimes, the descended testis pulls the fallopian tube and uterus into the track through which it has descended. This creates a condition called hernia uteri inguinalis, a form of inguinal hernia. In other cases, the undescended testis from the other side of the body is also pulled into the same track, forming an inguinal hernia. This condition, called transverse testicular ectopia, is common in people with persistent Müllerian duct syndrome.
Other effects of persistent Müllerian duct syndrome may include the inability to father children (infertility) or blood in the semen (hematospermia). Also, the undescended testes may break down (degenerate) or develop cancer if left untreated.
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 testicular torsion. 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. The drugs Sertraline and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include uterus, testes and testis, and related phenotypes are cryptorchidism and inguinal hernia 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. NIH Rare Diseases : 52 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 Mullerian 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 Mullerian structures. If not treated, undescended testes may degenerate or develop cancer . KEGG : 36 Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either by a mutation in the Anti-Mullerian hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time of sex differentiation in fetal life, and have a role in the regression of Mullerian ducts. Wikipedia : 74 Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian... more... |
Human phenotypes related to Persistent Mullerian Duct Syndrome:31
GenomeRNAi Phenotypes related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:45
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Drugs for Persistent Mullerian Duct Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 12)
Interventional clinical trials:
Cochrane evidence based reviews: persistent mullerian duct syndrome |
MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:40
Uterus,
Testes,
Testis,
Cervix,
Placenta,
Brain,
Breast
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Articles related to Persistent Mullerian Duct Syndrome:(show top 50) (show all 459)
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Genes related to Persistent Mullerian Duct Syndrome (2 elite genes):(show all 22) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Persistent Mullerian Duct Syndrome:6
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Search
GEO
for disease gene expression data for Persistent Mullerian Duct Syndrome.
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Pathways related to Persistent Mullerian Duct Syndrome according to KEGG:36
Pathways related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:(show all 50)
Molecular functions related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:
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