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Pigmented micronodular adrenocortical disease

MedGen UID:
368901
Concept ID:
C1968851
Finding
HPO: HP:0001580

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPigmented micronodular adrenocortical disease

Conditions with this feature

Pigmented nodular adrenocortical disease, primary, 1
MedGen UID:
400627
Concept ID:
C1864846
Disease or Syndrome
Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; 160980), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical Disease See also PPNAD2 (610475), caused by mutation in the PDE11A gene (604961) on chromosome 2q31; PPNAD3 (614190), caused by mutation in the PDE8B gene (603390) on chromosome 5q13; and PPNAD4 (615830), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (601639).
Pigmented nodular adrenocortical disease, primary, 2
MedGen UID:
355843
Concept ID:
C1864851
Disease or Syndrome
Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.

Professional guidelines

PubMed

Perry RR, Nieman LK, Cutler GB Jr, Chrousos GP, Loriaux DL, Doppman JL, Travis WD, Norton JA
Ann Surg 1989 Jul;210(1):59-68. doi: 10.1097/00000658-198907000-00010. PMID: 2742414Free PMC Article

Recent clinical studies

Etiology

Zeiger MA, Nieman LK, Cutler GB, Chrousos GP, Doppman JL, Travis WD, Norton JA
Surgery 1991 Dec;110(6):1106-15. PMID: 1745978

Diagnosis

Zeiger MA, Nieman LK, Cutler GB, Chrousos GP, Doppman JL, Travis WD, Norton JA
Surgery 1991 Dec;110(6):1106-15. PMID: 1745978
Perry RR, Nieman LK, Cutler GB Jr, Chrousos GP, Loriaux DL, Doppman JL, Travis WD, Norton JA
Ann Surg 1989 Jul;210(1):59-68. doi: 10.1097/00000658-198907000-00010. PMID: 2742414Free PMC Article

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