Details of Disease

General Information of Disease (ID: DISPCURP)

Disease Name Premature ovarian failure 2A
Synonyms
POF2A; DIAPH2 primary ovarian failure; premature ovarian failure 2A; primary ovarian failure caused by mutation in DIAPH2; premature ovarian failure 2A, X-linked dominant; premature ovarian failure type 2A
Definition Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DISPCURP: Premature ovarian failure 2A
Disease Identifiers
MONDO ID
MONDO_0010350
MESH ID
C564498
UMLS CUI
C1845293
OMIM ID
300511
MedGen ID
336902

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
DIAPH2 OTBEYFEZ Limited Unknown [1]
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References

1 Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication. Cytogenet Genome Res. 2017;151(3):115-118. doi: 10.1159/000460278. Epub 2017 Mar 9.