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Persistent Müllerian duct syndrome

Disease Export to PDF
Name:
Persistent Müllerian duct syndrome
Description:
Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.
ORPHAcode:
2856
Synonyms:
PMDS
Persistent Müllerian derivatives
XREF(s):
Orphanet
ICD-10
MeSH
OMIM
Analyte(s):
AMH
AMHR2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Premature Ovarian Failure/Insufficiency (32 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AFF2 100.00 0
    AMH 75.52 0
    AMHR2 100.00 0
    BMP15 100.00 0
    DACH2 99.75 0
    DAZL 100.00 0
    DIAPH2 100.00 0
    DMC1 100.00 0
    ESR1 99.95 0
    FIGLA 98.07 0
    FMR1 100.00 0
    FOXL2 85.42 0
    FOXO1 86.72 0
    FOXO3 99.72 0
    FSHR 100.00 0
    GDF9 100.00 0
    GPR3 100.00 0
    HFM1 100.00 0
    INHA 100.00 0
    LHCGR 99.37 0
    MCM8 97.95 0
    MSH5 99.82 -2
    NOBOX 100.00 0
    NR5A1 100.00 0
    PATL2 100.00 0
    PGRMC1 100.00 0
    POF1B 100.00 0
    SOHLH1 100.00 0
    SOHLH2 96.06 0
    STAG3 99.70 0
    TGFBR3 100.00 0
    XPNPEP2 100.00 0