KEGG DISEASE: Recurrent hydatidiform moles

KEGG

DISEASE: Recurrent hydatidiform moles

Entry

H00289                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
18 Pregnancy, childbirth or the puerperium
  Abortive outcome of pregnancy
   JA02  Molar pregnancy
    H00289  Recurrent hydatidiform moles

Pathway

NOD-like receptor signaling pathway

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]

Other DBs

ICD-11:

MeSH:

OMIM:

231090 614293 618431 618432

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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