| H00289 | |
| H number | H00289 |
| Name | Recurrent hydatidiform moles; Familial biparental hydatidiform |
| Description | Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is higher in other areas in the world. Recurrent hydatidiform mole (RHM), the familial cases of the disease, is an autosomal recessive disorder in which molar tissues are diploid and have a biparental contribution to their genome. The molar tissues show abnormal epigenetic marking of maternal imprinted genes. Affected women have biallelic mutations in the NLRP7 gene (NALP7), a gene thought to be involved in inflammatory and apoptotic pathways. |
| Category | Reproductive system disease |
| Network | - |
| Gene | (HYDM) NALP7 [HSA:199713] [KO:K20864] (HYDM2) KHDC3L [HSA:154288] [KO:K25076] (HYDM3) MEI1 [HSA:150365] [KO:K25318] (HYDM4) C11orf80 [HSA:79703] [KO:K24789] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: JA02 ICD-10: O01 MeSH: D006828 OMIM: 231090 614293 618431 618432 |
| Reference | PMID:16501554 AUTHORS Bestor TH, Bourc'his D TITLE Genetics and epigenetics of hydatidiform moles. JOURNAL Nat Genet 38:274-6 (2006) DOI:10.1038/ng0306-274 PMID:16462743 (NALP7) AUTHORS Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R TITLE Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. JOURNAL Nat Genet 38:300-2 (2006) DOI:10.1038/ng1740 PMID:23232697 (KHDC3L) AUTHORS Reddy R, Akoury E, Phuong Nguyen NM, Abdul-Rahman OA, Dery C, Gupta N, Daley WP, Ao A, Landolsi H, Ann Fisher R, Touitou I, Slim R TITLE Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7. JOURNAL Eur J Hum Genet 21:957-64 (2013) DOI:10.1038/ejhg.2012.274 PMID:30388401 (MEI1, C11orf80) AUTHORS Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Ao A, Majewski J, Taketo T, Slim R TITLE Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. JOURNAL Am J Hum Genet 103:740-751 (2018) DOI:10.1016/j.ajhg.2018.10.007 |