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Hydatidiform mole(HYDM1)

MedGen UID:
444101
Concept ID:
C2931618
Disease or Syndrome
Synonyms: Gestational trophoblastic disease; Gestational trophoblastic neoplasia; Hydatid mole; HYDATIDIFORM MOLE, COMPLETE; Hydatidiform mole, recurrent; Hydatidiform Moles; HYDM1; Molar pregnancy; Trophoblastic neoplasms
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).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Gestational trophoblastic disease (416402001); GTD - Gestational trophoblastic disease (416402001); Trophoblastic disease (416402001); Gestational trophoblastic disease (609518007)
 
Gene (location): NLRP7 (19q13.42)
OMIM®: 231090

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). Genetic Heterogeneity of Recurrent Hydatidiform Mole Another form of recurrent complete hydatidiform mole (HYDM2; 614293) is caused by mutation in the KHDC3L gene (611687) on chromosome 6q13. [from OMIM]

Clinical features

Abnormality of the genitourinary system
MedGen UID:
892370
Concept ID:
C4020895
Anatomical Abnormality

Term Hierarchy

Recent clinical studies

Etiology

Yamamoto E, Niimi K, Kiyono T, Yamamoto T, Nishino K, Nakamura K, Kotani T, Kajiyama H, Shibata K, Kikkawa F
Int J Mol Med 2017 Sep;40(3):614-622. Epub 2017 Jul 14 doi: 10.3892/ijmm.2017.3067. PMID: 28713902Free PMC Article
Li XL, Du DF, Chen SJ, Zheng SH, Lee AC, Chen Q
Reprod Health 2016 May 20;13(1):58. doi: 10.1186/s12978-016-0181-5. PMID: 27206481Free PMC Article
Braga A, Moraes V, Maestá I, Amim Júnior J, Rezende-Filho Jd, Elias K, Berkowitz R
Int J Gynecol Cancer 2016 Jun;26(5):984-90. doi: 10.1097/IGC.0000000000000682. PMID: 26905335
Incebiyik A, Vural M, Camuzcuoglu H, Taskin A, Camuzcuoglu A, Hilali NG, Aksoy N
Wien Klin Wochenschr 2016 Dec;128(Suppl 8):566-571. Epub 2015 Apr 14 doi: 10.1007/s00508-015-0735-5. PMID: 25869758
Mangili G, Giorgione V, Gentile C, Bergamini A, Pella F, Almirante G, Candiani M
Acta Obstet Gynecol Scand 2014 May;93(5):503-7. Epub 2014 Mar 20 doi: 10.1111/aogs.12357. PMID: 24575838

Diagnosis

Suksai M, Suwanrath C, Kor-Anantakul O, Geater A, Hanprasertpong T, Atjimakul T, Pichatechaiyoot A
Eur J Obstet Gynecol Reprod Biol 2017 May;212:1-8. Epub 2017 Mar 7 doi: 10.1016/j.ejogrb.2017.03.013. PMID: 28301807
Li XL, Du DF, Chen SJ, Zheng SH, Lee AC, Chen Q
Reprod Health 2016 May 20;13(1):58. doi: 10.1186/s12978-016-0181-5. PMID: 27206481Free PMC Article
Braga A, Moraes V, Maestá I, Amim Júnior J, Rezende-Filho Jd, Elias K, Berkowitz R
Int J Gynecol Cancer 2016 Jun;26(5):984-90. doi: 10.1097/IGC.0000000000000682. PMID: 26905335
Sebire NJ, May PC, Kaur B, Seckl MJ, Fisher RA
Diagn Pathol 2016 Feb 4;11:20. doi: 10.1186/s13000-016-0471-9. PMID: 26846439Free PMC Article
Mangili G, Giorgione V, Gentile C, Bergamini A, Pella F, Almirante G, Candiani M
Acta Obstet Gynecol Scand 2014 May;93(5):503-7. Epub 2014 Mar 20 doi: 10.1111/aogs.12357. PMID: 24575838

Therapy

Nobuhara I, Harada N, Haruta N, Higashiura Y, Watanabe H, Watanabe S, Hisanaga H, Sado T
Taiwan J Obstet Gynecol 2018 Aug;57(4):588-593. doi: 10.1016/j.tjog.2018.06.020. PMID: 30122584
Zhao P, Chen Q, Lu W
BMC Cancer 2017 Nov 9;17(1):733. doi: 10.1186/s12885-017-3749-8. PMID: 29121880Free PMC Article
Yildiz Y, Dursun A, Tokatli A, Coskun T, Sivri S
Gynecol Endocrinol 2017 Jan;33(1):19-20. Epub 2016 Nov 29 doi: 10.1080/09513590.2016.1247796. PMID: 27898272
Madi JM, Braga AR, Paganella MP, Litvin IE, Da Ros Wendland EM
Syst Rev 2016 Oct 4;5(1):169. doi: 10.1186/s13643-016-0349-7. PMID: 27716354Free PMC Article
Cagayan MS
J Reprod Med 2014 May-Jun;59(5-6):235-40. PMID: 24937963

Prognosis

Kalogiannidis I, Kalinderi K, Kalinderis M, Miliaras D, Tarlatzis B, Athanasiadis A
J Assist Reprod Genet 2018 Jun;35(6):967-973. Epub 2018 May 8 doi: 10.1007/s10815-018-1202-9. PMID: 29737470Free PMC Article
Suksai M, Suwanrath C, Kor-Anantakul O, Geater A, Hanprasertpong T, Atjimakul T, Pichatechaiyoot A
Eur J Obstet Gynecol Reprod Biol 2017 May;212:1-8. Epub 2017 Mar 7 doi: 10.1016/j.ejogrb.2017.03.013. PMID: 28301807
Li XL, Du DF, Chen SJ, Zheng SH, Lee AC, Chen Q
Reprod Health 2016 May 20;13(1):58. doi: 10.1186/s12978-016-0181-5. PMID: 27206481Free PMC Article
Sebire NJ, May PC, Kaur B, Seckl MJ, Fisher RA
Diagn Pathol 2016 Feb 4;11:20. doi: 10.1186/s13000-016-0471-9. PMID: 26846439Free PMC Article
Incebiyik A, Vural M, Camuzcuoglu H, Taskin A, Camuzcuoglu A, Hilali NG, Aksoy N
Wien Klin Wochenschr 2016 Dec;128(Suppl 8):566-571. Epub 2015 Apr 14 doi: 10.1007/s00508-015-0735-5. PMID: 25869758

Clinical prediction guides

Braga A, Biscaro A, do Amaral Giordani JM, Viggiano M, Elias KM, Berkowitz RS, Seckl MJ
Eur J Obstet Gynecol Reprod Biol 2018 Apr;223:50-55. Epub 2018 Feb 15 doi: 10.1016/j.ejogrb.2018.02.001. PMID: 29477553
Asmar FTC, Braga-Neto AR, de Rezende-Filho J, Villas-Boas JMS, Charry RC, Maesta I
Clinics (Sao Paulo) 2017 May;72(5):284-288. doi: 10.6061/clinics/2017(05)05. PMID: 28591340Free PMC Article
Suksai M, Suwanrath C, Kor-Anantakul O, Geater A, Hanprasertpong T, Atjimakul T, Pichatechaiyoot A
Eur J Obstet Gynecol Reprod Biol 2017 May;212:1-8. Epub 2017 Mar 7 doi: 10.1016/j.ejogrb.2017.03.013. PMID: 28301807
Braga A, Moraes V, Maestá I, Amim Júnior J, Rezende-Filho Jd, Elias K, Berkowitz R
Int J Gynecol Cancer 2016 Jun;26(5):984-90. doi: 10.1097/IGC.0000000000000682. PMID: 26905335
Sebire NJ, May PC, Kaur B, Seckl MJ, Fisher RA
Diagn Pathol 2016 Feb 4;11:20. doi: 10.1186/s13000-016-0471-9. PMID: 26846439Free PMC Article

Recent systematic reviews

Zhao Y, Xiong GW, Zhang XW, Hang BO
Anticancer Res 2018 Feb;38(2):1105-1110. doi: 10.21873/anticanres.12329. PMID: 29374747
Wang Q, Fu J, Hu L, Fang F, Xie L, Chen H, He F, Wu T, Lawrie TA
Cochrane Database Syst Rev 2017 Sep 11;9:CD007289. doi: 10.1002/14651858.CD007289.pub3. PMID: 28892119
Deng L, Zhang J, Wu T, Lawrie TA
Cochrane Database Syst Rev 2013 Jan 31;(1):CD005196. doi: 10.1002/14651858.CD005196.pub4. PMID: 23440800
Nayeri UA, West AB, Grossetta Nardini HK, Copel JA, Sfakianaki AK
Ultrasound Obstet Gynecol 2013 Apr;41(4):366-74. doi: 10.1002/uog.12359. PMID: 23239538
Fu J, Fang F, Xie L, Chen H, He F, Wu T, Hu L, Lawrie TA
Cochrane Database Syst Rev 2012 Oct 17;10:CD007289. doi: 10.1002/14651858.CD007289.pub2. PMID: 23076934

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