Details of Disease

General Information of Disease (ID: DISTZBTV)

Disease Name 46,XX testicular disorder of sex development
Synonyms
XX male syndrome; XX sex reversal; XX Male, Sry-positive; 46, XX gonadal sex reversal; 46,XX testicular disorders of Sex development; 46,XX testicular DSD; 46,XX testicular differences of sex development; De la Chapelle syndrome; XX, male syndrome; 46,XX testicular disorder of sex development
Definition 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.
Disease Hierarchy
DISJOG7M: 46,XX disorder of sex development
DISTZBTV: 46,XX testicular disorder of sex development
Disease Identifiers
MONDO ID
MONDO_0100249
MESH ID
D058531
UMLS CUI
C2936419
MedGen ID
424734
Orphanet ID
393
SNOMED CT ID
890089005

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
NR0B1 TTTK36V Strong ChromosomalRearrangement [1]
RSPO1 TTI9HL4 Strong Genetic Variation [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDIPT OTZX703K Strong Genetic Variation [3]
FOXL2 OTFRQUYL Strong Biomarker [4]
NR5A1 OTOULYR4 Strong Genetic Variation [5]
SOX3 OT1CRCOB Strong Altered Expression [6]
SRY OT516T6D Strong Genetic Variation [5]
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References

1 Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.J Med Genet. 2017 Oct;54(10):705-709. doi: 10.1136/jmedgenet-2016-104128. Epub 2017 May 8.
2 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.
3 Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter.Genomics. 2005 Jun;85(6):715-26. doi: 10.1016/j.ygeno.2005.02.011.
4 The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781.
5 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.
6 Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development.Urology. 2013 Dec;82(6):1453.e1-7. doi: 10.1016/j.urology.2013.08.040. Epub 2013 Oct 19.