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Persistent Müllerian duct syndrome
1 OMIM reference -
2 associated genes
17 connected diseases
4 signs/symptoms
Disease Type of connection
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Brachydactyly type A2
Brachydactyly type C
Familial thoracic aortic aneurysm and aortic dissection
Giant cell glioblastoma
Gliosarcoma
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Synonym(s):
- PMDS
- Persistent Müllerian derivatives
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536665
Gene symbol UniProt reference OMIM reference
AMH P03971600957
AMHR2 Q16671600956
Very frequent
- Autosomal recessive inheritance
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Male pseudohermaphrodism / lack of virilisation