Details of Disease

General Information of Disease (ID: DISR5L24)

Disease Name Premature ovarian failure 7
Synonyms
adrenal insufficiency, Nr5A1-related; Pof7; adrenocortical insufficiency; primary ovarian failure caused by mutation in NR5A1; premature ovarian failure 7; NR5A1 primary ovarian failure; premature ovarian failure type 7
Definition Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DISR5L24: Premature ovarian failure 7
Disease Identifiers
MONDO ID
MONDO_0013065
MESH ID
C567838
UMLS CUI
C2751825
OMIM ID
612964
MedGen ID
414115

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
NR5A1 OTOULYR4 Strong Autosomal dominant [1]
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References

1 Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25.