Gene/ Genetic Mechanism | Disorder | MOI | Selected Features of Disorder Overlapping w/Carney Complex | Distinguishing Features/ Comment |
|---|
Abnormal regulation of gene transcription in BWS critical region1 | Beckwith-Wiedemann syndrome (BWS) | See footnote 1. | Adrenal cortical tumors | No other common clinical features in BWS CNC |
AIP | AIP familial isolated pituitary adenomas (AIP-FIPA) | AD | GH-secreting pituitary adenomas (somatotropinomas) causing acromegaly | No other common clinical features in AIP-FIPA CNC BRAF MAP2K1 PTPN11 |
RAF1 | Noonan syndrome w/multiple lentigines (NSML) | AD | Lentigines | No other common clinical features in NSML CNC BRAF KRAS LZTR1 MAP2K1 MRAS NRAS PTPN11 RAF1 RASA2 RIT1 RRAS2 SOS1 SOS2 |
Noonan syndrome | ADAR2 | Lentigines | No other common clinical features in Noonan syndrome CNC | — |
GNAS | Fibrous dysplasia/ McCune-Albright syndrome (FD/MAS) | Not inherited | Caf au lait macules; Adrenal cortical tumors | Skeletal manifestations of FD/MAS do not occur in CNC. LZTR1 SMARCB1 |
LZTR1- SMARCB1-related schwannomatosis | AD | Schwannomas3 | Meningiomas in some persons w/SMARCB1-related schwannomatosis MEN1 | — |
Multiple endocrine neoplasia type 1 | AD | Adrenal cortical tumors; GH-secreting pituitary adenomas (somatotropinomas) causing acromegaly | Pancreatic other neuroendocrine tumors are common in MEN1 but absent in CNC. NF1 | — |
Neurofibromatosis 1 | AD | Caf au lait macules; Schwannomas3 | Gliomas neurofibromas do not occur in CNC. NF2 | — |
NF2-related schwannomatosis | AD | Caf au lait macules; Schwannomas3 | None of the other NF2-related tumors are present in CNC. | — |
PDE11A | Primary pigmented nodular adrenocortical disease 2 (PPNAD2) (OMIM 610475) | AD | Isolated micronodular adrenocortical hyperplasia | In PPNAD2, there is usually little pigmentation in adrenal histology.; Persons w/PPNAD2 usually do not have other tumors. |
PTEN | PTEN hamartoma tumor syndrome (PHTS) | AD | Lentigines in Bannayan-Riley-Ruvalcaba syndrome4; Thyroid tumors in Cowden syndrome4 | No other common clinical features in PHTS CNC STK11 |
Peutz-Jeghers syndrome | AD | Lentigines; Large cell calcifying Sertoli cell tumors (tumors may be hormone producing) | Ovarian tumors similar to those seen in Peutz-Jeghers syndrome are not observed in CNC.5 TP53 | — |
Li-Fraumeni syndrome | AD | Adrenal cortical tumors | AD = autosomal dominant; AR = autosomal recessive; CNC = Carney complex; GH = growth hormone; MOI = mode of inheritance 1. | — |
