Hydatidiform Mole, Recurrent, 2 (HYDM2)

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OMIM 56 614293 OMIM Phenotypic Series 56 PS231090 MeSH 43 D006828

MedGen 41 C0678213 C3280352 SNOMED-CT via HPO 68 258211005 UMLS 71 C3280352

OMIM : ⁵⁶ 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). (614293)

MalaCards based summary : Hydatidiform Mole, Recurrent, 2, also known as hydm2, is related to hydatidiform mole, recurrent, 1 and gestational trophoblastic neoplasm. An important gene associated with Hydatidiform Mole, Recurrent, 2 is KHDC3L (KH Domain Containing 3 Like, Subcortical Maternal Complex Member). Affiliated tissues include uterus and placenta, and related phenotype is hydatidiform mole.

UniProtKB/Swiss-Prot : ⁷³ Hydatidiform mole, recurrent, 2: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.

Clinical features from OMIM:

614293

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