Details of Disease | DrugMAP

General Information of Disease (ID: DISGN56J)

Disease Name	Pigmented nodular adrenocortical disease, primary, 3
Synonyms	Cushing syndrome, adrenal, due to PPNAD3; PPNAD3; primary pigmented nodular adrenocortical disease caused by mutation in PDE8B; PDE8B primary pigmented nodular adrenocortical disease; pigmented nodular adrenocortical disease, primary, type 3; pigmented nodular adrenocortical disease, primary, 3
Definition	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.
Disease Hierarchy	DISXCNDR: Primary pigmented nodular adrenocortical disease DISGN56J: Pigmented nodular adrenocortical disease, primary, 3
Disease Identifiers	MONDO ID MONDO_0013616 UMLS CUI C3280094 OMIM ID 614190 MedGen ID 481724

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE8B	OT4217NK	Strong	Autosomal dominant	[1]
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References

1	Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med. 2008 Feb 14;358(7):750-2. doi: 10.1056/NEJMc0706182.