Details of Disease | DrugMAP

General Information of Disease (ID: DISESGQ5)

Disease Name	Pigmented nodular adrenocortical disease, primary, 2
Synonyms	PPNAD2; pigmented micronodular adrenocortical disease, primary, 2; Cushing syndrome, adrenal, due to PPNAD2; PDE11A primary pigmented nodular adrenocortical disease; primary pigmented nodular adrenocortical disease caused by mutation in PDE11A; pigmented nodular adrenocortical disease, primary, 2; pigmented nodular adrenocortical disease, primary, type 2
Definition	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.
Disease Hierarchy	DISXCNDR: Primary pigmented nodular adrenocortical disease DISESGQ5: Pigmented nodular adrenocortical disease, primary, 2
Disease Identifiers	MONDO ID MONDO_0012505 MESH ID C566472 UMLS CUI C1864851 OMIM ID 610475 MedGen ID 355843

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDE11A	TTTWC79	Strong	Autosomal dominant	[1]
PDE11A	TTTWC79	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE11A	OT9X261C	Strong	Autosomal dominant	[1]
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References

1	A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006 Jul;38(7):794-800. doi: 10.1038/ng1809. Epub 2006 Jun 11.