General Information of Disease (ID: DISSHCUW)

Disease Name 46,XY sex reversal 6
Synonyms
SRXY6; 46,XY Sex reversal, partial or complete, Map3K1-related; 46,XY gonadal dysgenesis, partial or complete, Map3K1-related; 46,XY SEX reversal 6; 46XY sex reversal 6; 46,XY Sex reversal type 6; 46,XY sex reversal 6
Disease Hierarchy
DISLF3LT: 46,XY complete gonadal dysgenesis
DISMNH0C: 46,XY partial gonadal dysgenesis
DISSHCUW: 46,XY sex reversal 6
Disease Identifiers
MONDO ID
MONDO_0013410
UMLS CUI
C3151064
OMIM ID
613762
MedGen ID
462414

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
MAP3K1 TTW8TJI Limited Genetic Variation [1]
MAP3K1 TTQBCEJ Definitive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAP3K1 OTS3FVTY Definitive Autosomal dominant [1]
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References

1 Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. 2010 Dec 10;87(6):898-904. doi: 10.1016/j.ajhg.2010.11.003.