Details of Disease

General Information of Disease (ID: DISCWHJZ)

Disease Name Premature ovarian failure 8
Synonyms POF8; primary ovarian failure caused by mutation in STAG3; premature ovarian failure type 8; STAG3 primary ovarian failure; premature ovarian failure 8
Definition Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DISCWHJZ: Premature ovarian failure 8
Disease Identifiers
MONDO ID
MONDO_0014321
UMLS CUI
C3810367
OMIM ID
615723
MedGen ID
816697

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
STAG3 OTEV0AOD Strong Autosomal recessive [1]
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References

1 Mutant cohesin in premature ovarian failure. N Engl J Med. 2014 Mar 6;370(10):943-949. doi: 10.1056/NEJMoa1309635.