Details of Disease | DrugMAP

General Information of Disease (ID: DIS2N76U)

Disease Name	Adrenogenital syndrome
Synonyms	congenital adrenal hyperplasia; androgenital syndrome; adrenogenital syndrome; adrenogenital disorder
Definition	Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.
Disease Hierarchy	DIS7HZ3M: Steroid metabolism disease DISFS818: Adrenal gland disorder DIS2N76U: Adrenogenital syndrome
Disease Identifiers	MONDO ID MONDO_0015898 MESH ID D047808 UMLS CUI C0302280 MedGen ID 86215 HPO ID HP:0000840 Orphanet ID 181412 SNOMED CT ID 271077003

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
CYP21A2	TTP4GLG	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TGM5	DEW8QEH	Strong	Genetic Variation	[1]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADVL	OT50L4XB	Strong	Genetic Variation	[1]
EYS	OT0NBPL5	Strong	Genetic Variation	[1]
HADHA	OTO557N2	Strong	Genetic Variation	[1]
OTOA	OTBTEFIE	Strong	Genetic Variation	[1]
PROP1	OT8GF6N8	Strong	Genetic Variation	[1]
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References

1	Exome-based search for recurrent disease-causing alleles in Russian population.Eur J Med Genet. 2019 Jul;62(7):103656. doi: 10.1016/j.ejmg.2019.04.013. Epub 2019 Apr 24.