Details of Disease

General Information of Disease (ID: DISQO3XF)

Disease Name 46,XX ovotesticular disorder of sex development
Synonyms true hermaphroditism; ovotesticular disorders of sex development; ovotesticular DSD; 46,XX ovotesticular DSD; ovotesticular differences of sex development
Definition 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
Disease Hierarchy
DISRMAEZ: Disorder of sexual differentiation
DISQO3XF: 46,XX ovotesticular disorder of sex development
Disease Identifiers
MONDO ID
MONDO_0016281
UMLS CUI
C5679613
MedGen ID
1814438
Orphanet ID
2138
SNOMED CT ID
1234906009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NR5A1 OTOULYR4 Supportive Autosomal dominant [1]
SOX9 OTVDJFGN Supportive Autosomal dominant [2]
SRY OT516T6D Supportive Autosomal dominant [3]
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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 Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2.
3 The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. Hum Genet. 1992 Feb;88(4):411-6. doi: 10.1007/BF00215675.