Details of Disease | DrugMAP

General Information of Disease (ID: DISEX5II)

Disease Name	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Definition	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.
Disease Hierarchy	DIS7HNOH: Addison disease DISEX5II: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Disease Identifiers	MONDO ID MONDO_0017337 UMLS CUI C4707238 MedGen ID 1643960 Orphanet ID 289548 SNOMED CT ID 764960005

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	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP11A1	DE98XPV	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
CYP11A1	OT2NV3AN	Supportive	Autosomal recessive	[1]
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References

1	A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1). J Clin Endocrinol Metab. 2011 Nov;96(11):E1798-806. doi: 10.1210/jc.2011-1277. Epub 2011 Aug 31.