Details of Disease | DrugMAP

General Information of Disease (ID: DISO2SE5)

Disease Name	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Synonyms	classic 21-OHD CAH, simple virilizing form
Definition	The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.
Disease Hierarchy	DISMTRY0: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency DISO2SE5: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Disease Identifiers	MONDO ID MONDO_0017840 UMLS CUI C5679895 MedGen ID 1826061 Orphanet ID 315311

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP21A2	DE0JMZ5	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP21A2	OTN0UDVP	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.