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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 |
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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. |