Details of Disease

General Information of Disease (ID: DISEZQMU)

Disease Name 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
Synonyms SRXY8; male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase; 46,XY sex reversal 8; 46,XY sex reversal type 8; 46XY sex reversal 8, modifier of; 46XY sex reversal 8
Definition
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
Disease Hierarchy
DISLF3LT: 46,XY complete gonadal dysgenesis
DISEZQMU: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
Disease Identifiers
MONDO ID
MONDO_0013664
MESH ID
C564109
UMLS CUI
C1839840
OMIM ID
614279
MedGen ID
333416
Orphanet ID
443087

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
AKR1C2 DEOY5ZM Limited GermlineCausalMutation [1]
AKR1C4 DEAJN47 Limited Autosomal recessive [2]
AKR1C2 DEOY5ZM Supportive Autosomal recessive [1]
AKR1C4 DEAJN47 Strong GermlineModifyingMutation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AKR1C4 OTW2MMOF Limited Autosomal recessive [2]
AKR1C2 OTQ2XMO3 Supportive Autosomal recessive [1]
HMBOX1 OTPKTBVI Strong Altered Expression [3]
------------------------------------------------------------------------------------

References

1 Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet. 2011 Aug 12;89(2):201-18. doi: 10.1016/j.ajhg.2011.06.009. Epub 2011 Jul 28.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 5,2'-dibromo-2,4',5'-trihydroxydiphenylmethanone attenuates LPS-induced inflammation and ROS production in EA.hy926 cells via HMBOX1 induction.J Cell Mol Med. 2019 Jan;23(1):453-463. doi: 10.1111/jcmm.13948. Epub 2018 Oct 24.