NLRP7 gene related symptoms and diseases

Alternate names

COMPLETE HYDATIDIFORM MOLE Is also known as complete molar pregnancy

Description

Complete hydatidiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma (see this term).

SOURCES: ORPHANET

Alternate names

HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1 Is also known as hydatidiform mole, complete, gestational trophoblastic disease, hydatidiform mole, chm, hydm

Description

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 MoleAnother form of recurrent complete hydatidiform mole (HYDM2 ) is caused by mutation in the KHDC3L gene (OMIM ) on chromosome 6q13.

Most common symptoms of HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1

• Neoplasm
• Nevus
• Abnormality of the genitourinary system
• Choriocarcinoma

SOURCES: OMIM

Alternate names

PARTIAL HYDATIDIFORM MOLE Is also known as incomplete hydatidiform mole, partial molar pregnancy, incomplete molar pregnancy

Description

Partial hydatiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.

SOURCES: ORPHANET