Details of Disease

General Information of Disease (ID: DIS5QPI0)

• Disease Name: Complete hydatidiform mole
• Synonyms: complete Mole; complete molar pregnancy; classical hydatidiform Mole; complete hydatid Mole
• Definition: Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.
• Disease Hierarchy:
  DISKNP7O: Hydatidiform mole
  DIS5QPI0: Complete hydatidiform mole
• Disease Identifiers:
  MONDO ID: MONDO_0016785
  UMLS CUI: C0678213
  MedGen ID: 195706
  Orphanet ID: 254688
  SNOMED CT ID: 237249000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDKN1C	TTBSUAR	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PGM1	DEA3VM1	Strong	Genetic Variation	[2]

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KHDC3L	OTJ7M1OH	Supportive	Autosomal recessive	[3]
MEI1	OTD34H3B	Supportive	Autosomal recessive	[4]
NLRP7	OTE9BI32	Supportive	Autosomal recessive	[5]
CIB2	OT9ZJX1I	Strong	Genetic Variation	[6]
CORO1A	OTVAZOHC	Strong	Genetic Variation	[1]
DOC2A	OT5G9V94	Strong	Altered Expression	[7]
ERC1	OTYBGGNO	Strong	Genetic Variation	[8]
HOPX	OTBSR6C9	Strong	Altered Expression	[9]
JAKMIP2	OT2H3MRD	Strong	Altered Expression	[9]
KCNG4	OT7AOD0Y	Strong	Genetic Variation	[8]
KDELR1	OT8YBS5G	Strong	Biomarker	[10]
LGALS14	OTOR23GX	Strong	Biomarker	[11]
PEG3	OTHQW98S	Strong	Altered Expression	[12]
PHLDA2	OTMV9DPP	Strong	Biomarker	[13]
PROK1	OT8S7RUG	Strong	Biomarker	[14]
REC114	OTEMFDNB	Strong	Biomarker	[4]
RNH1	OT6EC79B	Strong	Altered Expression	[15]

References

• [1] Does Ki-67 Have a Role in the Diagnosis of Placental Molar Disease?.Int J Gynecol Pathol. 2020 Jan;39(1):1-7. doi: 10.1097/PGP.0000000000000558.
• [2] The propensity to malignancy of dispermic heterozygous moles.Placenta. 1987 May-Jun;8(3):319-26. doi: 10.1016/0143-4004(87)90056-7.
• [3] Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. Am J Hum Genet. 2011 Sep 9;89(3):451-8. doi: 10.1016/j.ajhg.2011.08.002. Epub 2011 Sep 1.
• [4] Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. Am J Hum Genet. 2018 Nov 1;103(5):740-751. doi: 10.1016/j.ajhg.2018.10.007.
• [5] Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. J Med Genet. 2009 Aug;46(8):569-75. doi: 10.1136/jmg.2008.064196. Epub 2009 Feb 25.
• [6] Clinical Usefulness of Immunohistochemical Staining of p57 kip2 for the Differential Diagnosis of Complete Mole.Biomed Res Int. 2015;2015:905648. doi: 10.1155/2015/905648. Epub 2015 Jun 16.
• [7] DOC-2/hDab2, a candidate tumor suppressor gene involved in the development of gestational trophoblastic diseases.Oncogene. 1998 Jul 30;17(4):419-24. doi: 10.1038/sj.onc.1201955.
• [8] Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.Oncotarget. 2017 Sep 8;8(43):75264-75271. doi: 10.18632/oncotarget.20769. eCollection 2017 Sep 26.
• [9] Genetics and molecular markers in gestational trophoblastic disease with special reference to their clinical application.Best Pract Res Clin Obstet Gynaecol. 2003 Dec;17(6):827-36. doi: 10.1016/s1521-6934(03)00096-8.
• [10] Incidence of hydatidiform mole in a Tokyo hospital: a 5-year (1989 to 1993) prospective, morphological, and flow cytometric study.Hum Pathol. 1995 Jul;26(7):758-64. doi: 10.1016/0046-8177(95)90224-4.
• [11] Dysregulation of Placental Functions and Immune Pathways in Complete Hydatidiform Moles.Int J Mol Sci. 2019 Oct 10;20(20):4999. doi: 10.3390/ijms20204999.
• [12] Identification of multiple differentially expressed messenger RNAs in normal and pathological trophoblast.Placenta. 2003 Feb-Mar;24(2-3):209-18. doi: 10.1053/plac.2002.0885.
• [13] Differential diagnosis between complete and partial mole by TSSC3 antibody completely correlates to DNA diagnosis.Diagn Mol Pathol. 2005 Sep;14(3):164-9. doi: 10.1097/01.pas.0000162757.91649.a3.
• [14] Antagonism of EG-VEGF Receptors as Targeted Therapy for Choriocarcinoma Progression In Vitro and In Vivo.Clin Cancer Res. 2017 Nov 15;23(22):7130-7140. doi: 10.1158/1078-0432.CCR-17-0811. Epub 2017 Sep 12.
• [15] Use of a novel system for defining a gene imprinting region.Biochem Biophys Res Commun. 1993 Oct 29;196(2):659-64. doi: 10.1006/bbrc.1993.2300.