Details of Disease | DrugMAP

General Information of Disease (ID: DISNQ3N7)

Disease Name	Pigmented nodular adrenocortical disease, primary, 4
Synonyms	PPNAD4; Cushing syndrome, adrenal, due to Ppnad4; chromosome 19P13 Duplication syndrome; ACTH-independent adrenal Cushing syndrome, somatic; primary pigmented nodular adrenocortical disease caused by mutation in PRKACA; PRKACA primary pigmented nodular adrenocortical disease; Cushing syndrome, ACTH-independent adrenal, somatic; pigmented nodular adrenocortical disease, primary, 4; pigmented nodular adrenocortical disease, primary, type 4
Definition	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.
Disease Hierarchy	DISXCNDR: Primary pigmented nodular adrenocortical disease DISNQ3N7: Pigmented nodular adrenocortical disease, primary, 4
Disease Identifiers	MONDO ID MONDO_0014359 UMLS CUI C4014425 OMIM ID 615830 MedGen ID 862862

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
PRKACA	TT5U49F	Limited	Unknown	[1]
PRKACA	TT5U49F	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRKACA	OTAKDCMR	Limited	Unknown	[1]
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References

1	Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA). PLoS One. 2012;7(4):e34838. doi: 10.1371/journal.pone.0034838. Epub 2012 Apr 13.
2	Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.Science. 2014 May 23;344(6186):917-20. doi: 10.1126/science.1252328.