Preferred Label : Pigmented nodular adrenocortical disease, primary, 1;
Symbol : PPNAD1;
CISMeF acronym : PPNAD1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Pigmented micronodular adrenocortical disease, primary, 1; Adrenocortical nodular dysplasia, primary; Cushing syndrome, adrenal, due to ppnad1;
Description : Primary pigmented micronodular adrenocortical disease is a form of;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the cAMP-dependent protein kinase, regulatory, type I, alpha
gene (PRKAR1A, 188830.0009);
Laboratory abnormalities : Increased serum cortisol; Paradoxical increased cortisol secretion on dexamethasone suppression test; Decreased serum ACTH;
Prefixed ID : #610489;
Origin ID : 610489;
UMLS CUI : C1864846;
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT