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GENATLAS PHENOTYPE
last update : 21-09-2011
Symbol HYDM
Location 19q13.42
Name hydatidiform moles, familial
Other name(s) gestational trophoblastic disease, familial biparental hydatidiform mole
Corresponding gene NLRP7
Other symbol(s) HM, FBHM
Main clinical features
  • abnormal human pregnancy with no embryo and cystic degeneration of placental villi
  • Genetic determination autosomal recessive
    Prevalence recurrent moles account for 2 percent of all molar cases
    Function/system disorder sex-genitalia
    Type disease
    Remark(s) genome-wide failure to correctly specify or maintain a maternal epigenotype at imprinted loci ; NLRP7 and ECAT1 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome.