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Hydatidiform mole, recurrent, 2(HYDM2)

MedGen UID:
195706
Concept ID:
C0678213
Neoplastic Process
Synonyms: HYDATIDIFORM MOLE, COMPLETE; HYDM2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: CHM - Complete hydatidiform mole (237249000); Vesicular mole (237249000); Complete hydatidiform mole (237249000); Complete hydatidiform mole (48430004)
 
Gene (location): KHDC3L (6q13)
OMIM®: 614293
Orphanet: ORPHA254688

Definition

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHydatidiform mole, recurrent, 2
Follow this link to review classifications for Hydatidiform mole, recurrent, 2 in Orphanet.

Recent clinical studies

Etiology

Landolsi H, Rittore C, Philibert L, Hmissa S, Gribaa M, Touitou I, Yacoubi MT
Arch Pathol Lab Med 2012 Jun;136(6):646-51. doi: 10.5858/arpa.2011-0399-OA. PMID: 22646272
Muhlstein J, Golfier F, Rittore C, Hajri T, Philibert L, Abel F, Beneteau C, Touitou I
Eur J Obstet Gynecol Reprod Biol 2011 Aug;157(2):197-9. Epub 2011 Mar 25 doi: 10.1016/j.ejogrb.2011.02.019. PMID: 21439709
Buyukkurt S, Fisher RA, Vardar MA, Evruke C
Placenta 2010 Nov;31(11):1023-5. Epub 2010 Sep 26 doi: 10.1016/j.placenta.2010.09.003. PMID: 20870286
Ogilvie CM, Renwick PJ, Khalaf Y, Braude PR
Reprod Biomed Online 2009 Aug;19(2):224-7. PMID: 19712559
Kerkmeijer LG, Wielsma S, Massuger LF, Sweep FC, Thomas CM
Gynecol Oncol 2007 Jul;106(1):142-6. Epub 2007 Apr 26 doi: 10.1016/j.ygyno.2007.03.010. PMID: 17462723

Diagnosis

Fallahian M, Sebire NJ, Savage PM, Seckl MJ, Fisher RA
Hum Mutat 2013 Feb;34(2):301-8. Epub 2012 Nov 2 doi: 10.1002/humu.22228. PMID: 23125094
Muhlstein J, Golfier F, Rittore C, Hajri T, Philibert L, Abel F, Beneteau C, Touitou I
Eur J Obstet Gynecol Reprod Biol 2011 Aug;157(2):197-9. Epub 2011 Mar 25 doi: 10.1016/j.ejogrb.2011.02.019. PMID: 21439709
Wang CM, Dixon PH, Decordova S, Hodges MD, Sebire NJ, Ozalp S, Fallahian M, Sensi A, Ashrafi F, Repiska V, Zhao J, Xiang Y, Savage PM, Seckl MJ, Fisher RA
J Med Genet 2009 Aug;46(8):569-75. Epub 2009 Feb 25 doi: 10.1136/jmg.2008.064196. PMID: 19246479
Koc S, Ozdegirmenci O, Tulunay G, Ozgul N, Kose MF, Bulbul D
Int J Gynecol Cancer 2006 Mar-Apr;16(2):940-3. doi: 10.1111/j.1525-1438.2006.00232.x. PMID: 16681793
Zhao J, Moss J, Sebire NJ, Cui QC, Seckl MJ, Xiang Y, Fisher RA
Hum Reprod 2006 Feb;21(2):536-41. Epub 2005 Oct 20 doi: 10.1093/humrep/dei357. PMID: 16239310

Therapy

Song Y, Shin JH, Yoon HK, Kim JW, Ko GY, Won HS
Clin Radiol 2015 Dec;70(12):1388-92. Epub 2015 Sep 14 doi: 10.1016/j.crad.2015.07.011. PMID: 26382745
Gueye M, Kane-Gueye SM, Ndiaye-Gueye MD, Mbaye M, Diouf AA, Niang MM, Diallo M, Moreau JC
BJOG 2014 Oct;121(11):1415-9. Epub 2014 Mar 28 doi: 10.1111/1471-0528.12742. PMID: 24674295
Wielsma S, Kerkmeijer L, Bekkers R, Pyman J, Tan J, Quinn M
Aust N Z J Obstet Gynaecol 2006 Apr;46(2):119-23. doi: 10.1111/j.1479-828X.2006.00539.x. PMID: 16638033
Elmer DB, Granai CO, Ball HG, Curry SL
Obstet Gynecol 1993 May;81(5 ( Pt 2)):888-90. PMID: 7682320
Federschneider JM, Goldstein DP, Berkowitz RS, Marean AR, Bernstein MR
Obstet Gynecol 1980 Apr;55(4):457-9. PMID: 7366903

Prognosis

Kou YC, Shao L, Peng HH, Rosetta R, del Gaudio D, Wagner AF, Al-Hussaini TK, Van den Veyver IB
Mol Hum Reprod 2008 Jan;14(1):33-40. Epub 2007 Nov 26 doi: 10.1093/molehr/gam079. PMID: 18039680
Kerkmeijer LG, Wielsma S, Massuger LF, Sweep FC, Thomas CM
Gynecol Oncol 2007 Jul;106(1):142-6. Epub 2007 Apr 26 doi: 10.1016/j.ygyno.2007.03.010. PMID: 17462723
Wielsma S, Kerkmeijer L, Bekkers R, Pyman J, Tan J, Quinn M
Aust N Z J Obstet Gynaecol 2006 Apr;46(2):119-23. doi: 10.1111/j.1479-828X.2006.00539.x. PMID: 16638033
Kerkmeijer L, Wielsma S, Bekkers R, Pyman J, Tan J, Quinn M
Aust N Z J Obstet Gynaecol 2006 Apr;46(2):112-8. doi: 10.1111/j.1479-828X.2006.00538.x. PMID: 16638032
Steigrad SJ, Robertson G, Kaye AL
J Reprod Med 2004 Jul;49(7):554-8. PMID: 15305827

Clinical prediction guides

Gueye M, Kane-Gueye SM, Ndiaye-Gueye MD, Mbaye M, Diouf AA, Niang MM, Diallo M, Moreau JC
BJOG 2014 Oct;121(11):1415-9. Epub 2014 Mar 28 doi: 10.1111/1471-0528.12742. PMID: 24674295
Estrada H, Buentello B, Zenteno JC, Fiszman R, Aguinaga M
Prenat Diagn 2013 Mar;33(3):205-8. Epub 2013 Jan 28 doi: 10.1002/pd.4036. PMID: 23354651
Fallahian M, Sebire NJ, Savage PM, Seckl MJ, Fisher RA
Hum Mutat 2013 Feb;34(2):301-8. Epub 2012 Nov 2 doi: 10.1002/humu.22228. PMID: 23125094
Kou YC, Shao L, Peng HH, Rosetta R, del Gaudio D, Wagner AF, Al-Hussaini TK, Van den Veyver IB
Mol Hum Reprod 2008 Jan;14(1):33-40. Epub 2007 Nov 26 doi: 10.1093/molehr/gam079. PMID: 18039680
Steigrad SJ, Robertson G, Kaye AL
J Reprod Med 2004 Jul;49(7):554-8. PMID: 15305827

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