Details of Disease

General Information of Disease (ID: DISJ0VQH)

Disease Name 46,XY sex reversal 3
Synonyms
46,XY SEX reversal 3; disorder of Sex development, 46,XY, Nr5A1-related; 46,XY Sex reversal, partial or complete, Nr5A1-related; 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure; SRXY3; Sex reversal, XY, with or without adrenal failure; 46,XY Sex reversal type 3; 46XY sex reversal 3; 46,XY sex reversal 3
Disease Hierarchy
DISLF3LT: 46,XY complete gonadal dysgenesis
DISMNH0C: 46,XY partial gonadal dysgenesis
DISJ0VQH: 46,XY sex reversal 3
Disease Identifiers
MONDO ID
MONDO_0013066
MESH ID
D058490
UMLS CUI
C3489793
OMIM ID
612965
MedGen ID
483746

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LHCGR TT2O4W9 Limited Biomarker [1]
CYP11A1 TTSYVO6 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NR5A1 OTOULYR4 Strong Autosomal dominant [3]
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References

1 Steroidogenesis in the fetal testis and its susceptibility to disruption by exogenous compounds.Endocr Rev. 2009 Dec;30(7):883-925. doi: 10.1210/er.2009-0016. Epub 2009 Nov 3.
2 Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. J Clin Endocrinol Metab. 2001 Aug;86(8):3820-5. doi: 10.1210/jcem.86.8.7748.
3 A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet. 1999 Jun;22(2):125-6. doi: 10.1038/9629.