HYDM2
MCID: HYD041
MIFTS: 21
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Hydatidiform Mole, Recurrent, 2 (HYDM2)
Categories:
Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 2:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases Anatomical: Reproductive diseases |
OMIM® :
57
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) (Updated 05-Mar-2021)
MalaCards based summary : Hydatidiform Mole, Recurrent, 2, also known as hydm2, is related to hydatidiform mole, recurrent, 1. 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 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. |
Diseases in the Recurrent Hydatidiform Mole family:
Diseases related to Hydatidiform Mole, Recurrent, 2 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Hydatidiform Mole, Recurrent, 2:31
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MalaCards organs/tissues related to Hydatidiform Mole, Recurrent, 2:40
Uterus
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Articles related to Hydatidiform Mole, Recurrent, 2:
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ClinVar genetic disease variations for Hydatidiform Mole, Recurrent, 2:6
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Search
GEO
for disease gene expression data for Hydatidiform Mole, Recurrent, 2.
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