Details of Disease

General Information of Disease (ID: DISD8XU3)

Disease Name Hydatidiform mole, recurrent, 2
Synonyms
HYDM2; hydatidiform MOLE, recurrent, 2; hydatidiform Mole, complete; hydatidiform mole, recurrent, 2; hydatidiform Mole, recurrent, type 2; complete hydatidiform mole caused by mutation in KHDC3L; KHDC3L complete hydatidiform mole
Definition Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.
Disease Hierarchy
DIS4EJNA: Gestational trophoblastic neoplasia
DIS5QPI0: Complete hydatidiform mole
DISD8XU3: Hydatidiform mole, recurrent, 2
Disease Identifiers
MONDO ID
MONDO_0013671
UMLS CUI
C3280352
OMIM ID
614293
MedGen ID
481982

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KHDC3L OTJ7M1OH Strong Autosomal recessive [1]
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References

1 Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. J Med Genet. 2009 Aug;46(8):569-75. doi: 10.1136/jmg.2008.064196. Epub 2009 Feb 25.