Details of Disease | DrugMAP

General Information of Disease (ID: DISVAWTF)

Disease Name	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Synonyms	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency; adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete; XY sex reversal-adrenal failure; adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete; p450scc deficiency; XY sex reversal-adrenal failure syndrome; cholesterol side-chain cleavage deficiency
Definition	A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.
Disease Hierarchy	DISYKSRF: Genetic disease DISFS818: Adrenal gland disorder DIS78CGG: 46,XY disorder of sex development DISVAWTF: Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Disease Identifiers	MONDO ID MONDO_0013400 UMLS CUI C3151055 OMIM ID 613743 MedGen ID 462405 Orphanet ID 168558

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
CYP11A1	TTSYVO6	Strong	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP11A1	DE98XPV	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP11A1	OT2NV3AN	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.
2	Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. J Clin Endocrinol Metab. 2005 Jan;90(1):538-41. doi: 10.1210/jc.2004-1059. Epub 2004 Oct 26.