Details of Disease

Disease Name

Hydatidiform mole

HYDM; hydatidiform mole, recurrent; hydatid mole; molar pregnancy; hydatidiform mole

Definition

A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.

Disease Hierarchy

DISY8WKT: Trophoblastic neoplasm

DISYKSRF: Genetic disease

:

DISKNP7O: Hydatidiform mole

Disease Identifiers

MONDO ID

MONDO_0006248

MESH ID

D006828

UMLS CUI

C0020217

MedGen ID

9329

HPO ID

HP:0032192

Orphanet ID

99927

General Information of Disease (ID: DISKNP7O)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDKN1C	TTBSUAR	Strong	Genetic Variation	[1]
CGB3	TTUH273	Strong	Altered Expression	[2]
CHM	TTOA18V	Strong	Genetic Variation	[1]
TEP1	TTQGAVX	Strong	Altered Expression	[3]
TK1	TTP3QRF	Strong	Altered Expression	[4]
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This Disease Is Related to 29 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASCL2	OT3D62WB	moderate	Altered Expression	[5]
GKN1	OT7ZYFQ9	moderate	Biomarker	[6]
INHA	OT7HWCO3	moderate	Biomarker	[7]
PPP1R13B	OTC88VQO	moderate	Biomarker	[8]
TP53BP2	OTOWJ2Y4	moderate	Altered Expression	[9]
AKIRIN2	OTQ6WSKW	Strong	Altered Expression	[10]
CGB1	OT7NFGXF	Strong	Altered Expression	[2]
CGB2	OTZJW4TH	Strong	Altered Expression	[2]
CHGB	OT7SAQT2	Strong	Altered Expression	[2]
CIB2	OT9ZJX1I	Strong	Altered Expression	[11]
CNMD	OTHND8EL	Strong	Biomarker	[12]
CORO1A	OTVAZOHC	Strong	Genetic Variation	[1]
ERV3-1	OT4CW64T	Strong	Altered Expression	[13]
FTL	OTYQA8A6	Strong	Altered Expression	[14]
HLA-DOA	OTZE5Q7R	Strong	Biomarker	[15]
HOXC12	OTGG9BJS	Strong	Altered Expression	[16]
HOXC13	OT52AVNA	Strong	Altered Expression	[16]
HOXC4	OT52VJ6V	Strong	Altered Expression	[16]
HOXC5	OTPQTLKZ	Strong	Altered Expression	[16]
HOXC6	OTBCRAZV	Strong	Altered Expression	[16]
HOXC8	OTJUYU8J	Strong	Altered Expression	[16]
HOXC9	OT60K4M0	Strong	Altered Expression	[16]
HPSE2	OTGEPP8V	Strong	Posttranslational Modification	[17]
KRT31	OTB6RCAH	Strong	Biomarker	[17]
PADI6	OTS42I3K	Strong	Biomarker	[18]
PLAGL1	OTZAO900	Strong	Biomarker	[19]
PSG5	OTHTU98X	Strong	Genetic Variation	[20]
PSG6	OTUURZG3	Strong	Altered Expression	[20]
PSG8	OT00UZBM	Strong	Genetic Variation	[20]
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⏷ Show the Full List of 29 DOT(s)

References

1	p57 in Hydatidiform Moles: Evaluation of Antibodies and Expression in Various Cell Types.Appl Immunohistochem Mol Morphol. 2020 Oct;28(9):694-701. doi: 10.1097/PAI.0000000000000807.
2	Fine-scale quantification of HCG beta gene transcription in human trophoblastic and non-malignant non-trophoblastic tissues.Mol Hum Reprod. 2008 Jan;14(1):23-31. doi: 10.1093/molehr/gam082. Epub 2007 Nov 29.
3	Expression of telomerase subunits and localization of telomerase activation in hydatidiform mole.Placenta. 1999 May;20(4):317-23. doi: 10.1053/plac.1998.0386.
4	The changes of gene expression profiles in hydatidiform mole and choriocarcinoma with hyperplasia of trophoblasts.Int J Gynecol Cancer. 2004 Sep-Oct;14(5):984-97. doi: 10.1111/j.1048-891X.2004.14539.x.
5	Detection of HASH2 (ASCL2) gene expression in gestational trophoblastic disease.J Reprod Med. 2006 Nov;51(11):892-6.
6	The tumor suppressor gastrokine-1 is expressed in placenta and contributes to the regulation of trophoblast migration.Placenta. 2013 Nov;34(11):1027-35. doi: 10.1016/j.placenta.2013.08.005. Epub 2013 Aug 28.
7	Immunohistochemical expression analysis of inhibin-alpha and -beta subunits in partial and complete moles, trophoblastic tumors, and endometrial decidua.Int J Gynecol Pathol. 2001 Oct;20(4):380-5. doi: 10.1097/00004347-200110000-00011.
8	Downregulation of ASPP1 in gestational trophoblastic disease: correlation with hypermethylation, apoptotic activity and clinical outcome.Mod Pathol. 2011 Apr;24(4):522-32. doi: 10.1038/modpathol.2010.216. Epub 2010 Nov 19.
9	Downregulation of ASPP2 in choriocarcinoma contributes to increased migratory potential through Src signaling pathway activation.Carcinogenesis. 2013 Sep;34(9):2170-7. doi: 10.1093/carcin/bgt161. Epub 2013 May 13.
10	FBI-1 Is Overexpressed in Gestational Trophoblastic Disease and Promotes Tumor Growth and Cell Aggressiveness of Choriocarcinoma via PI3K/Akt Signaling.Am J Pathol. 2015 Jul;185(7):2038-48. doi: 10.1016/j.ajpath.2015.03.011.
11	Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3,7,8 and unipaternal disomy of chromosome 11.Diagn Pathol. 2016 Feb 4;11:20. doi: 10.1186/s13000-016-0471-9.
12	HySA: a Hybrid Structural variant Assembly approach using next-generation and single-molecule sequencing technologies.Genome Res. 2017 May;27(5):793-800. doi: 10.1101/gr.214767.116. Epub 2017 Jan 19.
13	Expression patterns of ERVWE1/Syncytin-1 and other placentally expressed human endogenous retroviruses along the malignant transformation process of hydatidiform moles.Placenta. 2016 Mar;39:116-24. doi: 10.1016/j.placenta.2016.01.011. Epub 2016 Jan 14.
14	Differential expression of insulin-like growth factor binding protein 1 and ferritin light polypeptide in gestational trophoblastic neoplasia: combined cDNA suppression subtractive hybridization and microarray study.Cancer. 2005 Dec 1;104(11):2409-16. doi: 10.1002/cncr.21483.
15	Genetic analysis of hydatidiform moles utilizing the oligonucleotide-DNA typing of the HLA-DRB gene.Placenta. 1994 Jul;15(5):541-9. doi: 10.1016/s0143-4004(05)80422-9.
16	The three most downstream genes of the Hox-3 cluster are expressed in human extraembryonic tissues including trophoblast of androgenetic origin.Development. 1990 Mar;108(3):471-7. doi: 10.1242/dev.108.3.471.
17	Relative levels of methylation in human growth hormone and chorionic somatomammotropin genes in expressing and non-expressing tissues.Nucleic Acids Res. 1982 Jun 11;10(11):3459-74. doi: 10.1093/nar/10.11.3459.
18	Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.Eur J Hum Genet. 2018 Jul;26(7):1007-1013. doi: 10.1038/s41431-018-0141-3. Epub 2018 Apr 25.
19	Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes.Diabetologia. 2010 Nov;53(11):2347-51. doi: 10.1007/s00125-010-1853-2. Epub 2010 Jul 30.
20	Linkage of two human pregnancy-specific beta 1-glycoprotein genes: one is associated with hydatidiform mole.Proc Natl Acad Sci U S A. 1990 Aug;87(15):5822-6. doi: 10.1073/pnas.87.15.5822.