Details of Disease

General Information of Disease (ID: DISXCNDR)

Disease Name Primary pigmented nodular adrenocortical disease
Synonyms pigmented nodular adrenocortical disease; pigmented nodular adrenocortical disease, primary; PPNAD; primary pigmented nodular adrenal dysplasia
Definition
A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).
Disease Hierarchy
DISYKSRF: Genetic disease
DISFS818: Adrenal gland disorder
DISXCNDR: Primary pigmented nodular adrenocortical disease
Disease Identifiers
MONDO ID
MONDO_0015999
UMLS CUI
C4304832
MedGen ID
930501
Orphanet ID
189439
SNOMED CT ID
719274008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDE11A TTTWC79 Supportive Autosomal dominant [1]
PRKAR1A TTNAHEX Supportive Autosomal dominant [2]
PDE11A TTTWC79 moderate Genetic Variation [3]
PRKACA TT5U49F Strong ChromosomalRearrangement [4]
PRKAR1A TTNAHEX Strong Genetic Variation [5]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRKAR1B OT777OHS Limited Genetic Variation [6]
PDE11A OT9X261C Supportive Autosomal dominant [1]
PDE8B OT4217NK Supportive Autosomal dominant [7]
PRKAR1A OT589JA2 Supportive Autosomal dominant [2]
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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.
2 Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings. Am J Surg Pathol. 2014 Sep;38(9):1266-73. doi: 10.1097/PAS.0000000000000220.
3 Cyclic Cushing's syndrome caused by neuroendocrine tumor: a case report.Endocr J. 2019 Feb 28;66(2):175-180. doi: 10.1507/endocrj.EJ18-0168. Epub 2018 Dec 19.
4 Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26.
5 MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics.Neuroendocrinology. 2016;103(1):18-31. doi: 10.1159/000371819. Epub 2015 Jan 9.
6 cAMP pathway alterations from the cell surface to the nucleus in adrenocortical tumors.Endocr Res. 2002 Nov;28(4):765-75. doi: 10.1081/erc-120017071.
7 A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. Eur J Hum Genet. 2008 Oct;16(10):1245-53. doi: 10.1038/ejhg.2008.85. Epub 2008 Apr 23.