Details of Disease | DrugMAP

General Information of Disease (ID: DIS79VJ6)

Disease Name	Obsolete 46,XX sex reversal 1
Definition	Split this term - created a new grouping class that is equivalent to the Orphanet class (Orphanet:393) and created a new class for this term, equivalent to the OMIM term (OMIM:400045).
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS79VJ6: Obsolete 46,XX sex reversal 1

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NR5A1	OTOULYR4	Supportive	Autosomal dominant	[1]
SOX3	OT1CRCOB	Supportive	Autosomal dominant	[2]
SOX9	OTVDJFGN	Supportive	Autosomal dominant	[3]
SRY	OT516T6D	Definitive	X-linked	[4]
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References

1	NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017 Apr;19(4):367-376. doi: 10.1038/gim.2016.118. Epub 2016 Aug 4.
2	Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest. 2011 Jan;121(1):328-41. doi: 10.1172/JCI42580. Epub 2010 Dec 22.
3	A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9. Eur J Med Genet. 2013 Dec;56(12):695-8. doi: 10.1016/j.ejmg.2013.10.001. Epub 2013 Oct 18.
4	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.