Details of Disease | DrugMAP

General Information of Disease (ID: DISYHHEN)

Disease Name	Premature ovarian failure 1
Synonyms	premature ovarian failure, X-linked; Pof1; idiopathic familial premature ovarian failure; FMR1-related premature ovarian failure; fragile X-associated primary ovarian insufficiency; hypergonadotropic ovarian failure, X-linked; FMR1-related primary ovarian insufficiency; familial premature ovarian failure; ovarian failure, premature; premature ovarian failure 1; fragile x-associated primary ovarian insufficiency; primary ovarian failure caused by mutation in FMR1; FMR1 primary ovarian failure; premature ovarian failure type 1
Definition	Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.
Disease Hierarchy	DIS4V9SY: Inherited primary ovarian failure DISYHHEN: Premature ovarian failure 1
Disease Identifiers	MONDO ID MONDO_0010706 MESH ID D016649 UMLS CUI C4552079 OMIM ID 311360 MedGen ID 1644269

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NFE2L2	TTA6ZN2	Strong	Biomarker	[1]
WT1	TTZ8UT4	Strong	Biomarker	[2]
XPNPEP2	TTI9MBZ	Strong	Biomarker	[3]
CYP2C19	TTZ58XG	Definitive	Biomarker	[4]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL4A6	OTUREU5Z	Limited	X-linked	[5]
NR5A1	OTOULYR4	Strong	Biomarker	[6]
FMR1	OTWEV0T5	Definitive	X-linked	[7]
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References

1	Effects of deletion of the transcription factor Nrf2 and benzo [a]pyrene treatment on ovarian follicles and ovarian surface epithelial cells in mice.Reprod Toxicol. 2015 Dec;58:24-32. doi: 10.1016/j.reprotox.2015.07.080. Epub 2015 Aug 3.
2	Novel WT1 Missense Mutations in Han Chinese Women with Premature Ovarian Failure.Sci Rep. 2015 Sep 11;5:13983. doi: 10.1038/srep13983.
3	Identifying a novel role for X-prolyl aminopeptidase (Xpnpep) 2 in CrVI-induced adverse effects on germ cell nest breakdown and follicle development in rats.Biol Reprod. 2015 Mar;92(3):67. doi: 10.1095/biolreprod.114.125708. Epub 2015 Jan 7.
4	Cytochrome P450 pharmacogenetics as a predictor of toxicity and clinical response to pulse cyclophosphamide in lupus nephritis.Arthritis Rheum. 2004 Jul;50(7):2202-10. doi: 10.1002/art.20338.
5	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
6	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.
7	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.