Details of Disease

General Information of Disease (ID: DISRDCZR)

• Disease Name: 46,XX sex reversal 1
• Synonyms: 46,XX true hermaphroditism, SRY-positive; ovotesticular DSD; ovotesticular disorder of sex development; 46XX sex reversal 1, X-linked dominant; 46,XX Sex reversal, SRY-positive; 46,XX Sex reversal type 1; 46,XX gonadal dysgenesis, complete, SRY-positive; SRXX1; 46,XX SEX reversal 1
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISTZBTV: 46,XX testicular disorder of sex development
  DISRDCZR: 46,XX sex reversal 1
• Disease Identifiers:
  MONDO ID: MONDO_0100250
  MESH ID: D050090
  UMLS CUI: C2748895
  OMIM ID: 400045
  MedGen ID: 411324
  SNOMED CT ID: 1234907000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RSPO1	TTI9HL4	Strong	Genetic Variation	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NR5A1	OTOULYR4	moderate	Genetic Variation	[2]
SOX8	OTEJXYZM	Strong	Biomarker	[3]
SRY	OT516T6D	Definitive	X-linked	[4]

References

• [1] Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.Am J Med Genet A. 2018 Apr;176(4):1006-1010. doi: 10.1002/ajmg.a.38646.
• [2] A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.Sex Dev. 2019;13(2):60-66. doi: 10.1159/000496777. Epub 2019 Feb 9.
• [3] Genetic evaluation of disorders of sex development: current practice and novel gene discovery.Curr Opin Endocrinol Diabetes Obes. 2019 Feb;26(1):54-59. doi: 10.1097/MED.0000000000000452.
• [4] Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet. 1992 Feb;88(4):471-4. doi: 10.1007/BF00215684.