Details of Disease

General Information of Disease (ID: DISJOG7M)

Disease Name 46,XX disorder of sex development
Synonyms 46,XX differences of Sex development; female pseudohermaphroditism; 46,XX disorders of Sex development; 46,XX DSD
Definition
Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.
Disease Hierarchy
DISRMAEZ: Disorder of sexual differentiation
DISJOG7M: 46,XX disorder of sex development
Disease Identifiers
MONDO ID
MONDO_0017576
MESH ID
D058489
UMLS CUI
C2936403
MedGen ID
424728
Orphanet ID
2982
SNOMED CT ID
890460004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NR3C1 TTOZRK6 Limited Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SRY OT516T6D moderate Biomarker [2]
MYRF OTKF6AEB Strong Biomarker [3]
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References

1 Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.J Clin Endocrinol Metab. 2002 Apr;87(4):1805-9. doi: 10.1210/jcem.87.4.8379.
2 Clinical and genetic analysis in males with 46,XX disorders of sex development: A reproductive centre experience of 144 cases.Andrologia. 2019 May;51(4):e13232. doi: 10.1111/and.13232. Epub 2019 Jan 8.
3 MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066.