Details of Disease

General Information of Disease (ID: DISB95JB)

Disease Name Premature ovarian failure 12
Synonyms primary ovarian failure caused by mutation in SYCE1; SYCE1 primary ovarian failure; premature ovarian failure 12; premature ovarian failure 12; POF12; premature ovarian failure type 12; POF12
Definition Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DISB95JB: Premature ovarian failure 12
Disease Identifiers
MONDO ID
MONDO_0014844
UMLS CUI
C4310782
OMIM ID
616947
MedGen ID
934749

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
SYCE1 OTTOIXW8 Strong Autosomal recessive [1]
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References

1 A novel mouse synaptonemal complex protein is essential for loading of central element proteins, recombination, and fertility. PLoS Genet. 2011 May;7(5):e1002088. doi: 10.1371/journal.pgen.1002088. Epub 2011 May 26.