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Partial hydatidiform mole

Disease Export to PDF
Name:
Partial hydatidiform mole
Description:
A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.
ORPHAcode:
254693
Synonyms:
Incomplete hydatidiform mole
Incomplete molar pregnancy
Partial molar pregnancy
XREF(s):
Orphanet
ICD-10
Analyte(s):
NLRP7
KHDC3L
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Periodic Fever (88 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACP5 0.00 0 ,
    ADAM17 0.00 0 ,
    ADAR 0.00 0 ,
    AP1S3 0.00 0 ,
    CARD14 0.00 0 ,
    CASP1 0.00 0 ,
    CASP10 0.00 0 ,
    CDC42 0.00 0 ,
    CEBPE 0.00 0 ,
    ADA2 0.00 0 ,
    COPA 0.00 0 ,
    RIGI 0.00 0 ,
    DNASE2 0.00 0 ,
    DOCK8 0.00 0 ,
    ELF4 0.00 0 ,
    ADGRE2 0.00 0 ,
    F12 0.00 0 ,
    OTULIN 0.00 0 ,
    FAS 0.00 0 ,
    FASLG 0.00 0 ,
    FBLIM1 0.00 0 ,
    HMOX1 0.00 0 ,
    IFIH1 0.00 0 ,
    IKBKG 0.00 0 ,
    IL10 0.00 0 ,
    IL10RA 0.00 0 ,
    IL10RB 0.00 0 ,
    IL1RN 0.00 0 ,
    IL36RN 0.00 0 ,
    LACC1 0.00 0 ,
    LPIN2 0.00 0 ,
    LSM11 0.00 0 ,
    LYN 0.00 0 ,
    MDFIC 0.00 0 ,
    MEFV 0.00 0 ,
    MVK 0.00 0 ,
    NCKAP1L 0.00 0 ,
    NCSTN 0.00 0 ,
    NLRC4 0.00 0 ,
    NLRP1 0.00 0 ,
    NLRP12 0.00 0 ,
    NLRP3 0.00 0 ,
    NLRP7 0.00 0 ,
    NOD2 0.00 0 ,
    PLCG2 0.00 0 ,
    POLA1 0.00 0 ,
    POMP 0.00 0 ,
    PSENEN 0.00 0 ,
    PSMA3 0.00 0 ,
    PSMB10 0.00 0 ,
    PSMB4 0.00 0 ,
    PSMB8 0.00 0 ,
    PSMB9 0.00 0 ,
    PSMG2 0.00 0 ,
    PSTPIP1 0.00 0 ,
    PTEN 0.00 0 ,
    PYCARD 0.00 0 ,
    RBCK1 0.00 0 ,
    RELA 0.00 0 ,
    RIPK1 0.00 0 ,
    RNASEH2A 0.00 0 ,
    RNASEH2B 0.00 0 ,
    RNASEH2C 0.00 0 ,
    RNF213 0.00 0 ,
    RNF31 0.00 0 ,
    RNU7-1 0.00 0 ,
    SAMD9L 0.00 0 ,
    SAMHD1 0.00 0 ,
    SERPING1 0.00 0 ,
    SH3BP2 0.00 0 ,
    SHARPIN 0.00 0 ,
    SLC29A3 0.00 0 ,
    STAT2 0.00 0 ,
    SYK 0.00 0 ,
    STING1 0.00 0 ,
    TNFAIP3 0.00 0 ,
    TNFRSF11A 0.00 0 ,
    TNFRSF1A 0.00 0 ,
    TNFRSF9 0.00 0 ,
    TRAP1 0.00 0 ,
    TREX1 0.00 0 ,
    TRNT1 0.00 0 ,
    UBA1 0.00 0 ,
    UNC13B 0.00 0 ,
    USP18 0.00 0 ,
    WAS 0.00 0 ,
    WDR1 0.00 0 ,
    XIAP 0.00 0 ,