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Condition report · Endocrine

Carney Complex and Hereditary Cushing Syndrome

Inherited conditions, mainly caused by variants in PRKAR1A, PDE11A, PDE8B and ARMC5, in which benign tumours of the adrenal glands and other organs can cause Cushing syndrome. Carney complex also raises the risk of heart myxomas and other endocrine tumours.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Carney complex

Autosomal dominant

A multiple neoplasia syndrome with spotty skin pigmentation, cardiac and skin myxomas, and endocrine tumours of the adrenal, pituitary, thyroid and testes.

What a diagnosis changes

Regular heart ultrasound to find myxomas early, plus endocrine and testicular surveillance, and testing of relatives.

Genes analysed

Also known as

atrial myxoma with lentigines; Carney Complex, type 1; Carney Complex, type 2; Carney syndrome; Carney's syndrome; CNC; LAMB; lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome; Myxoma - spotty pigmentation - endocrine overactivity; Myxoma-spotty pigmentation-endocrine overactivity syndrome; nevi, atrial myxoma, skin myxoma, ephelides syndrome

Includes 3 related subtypes ↓
  • Carney complex - trismus - pseudocamptodactyly syndrome
  • Carney complex type 2
  • Carney complex, type 1
MONDO:0015285Orphanet 1359MedGen 140810

Primary pigmented nodular adrenocortical disease

Autosomal dominant

Small pigmented adrenal nodules that produce cortisol independently of ACTH, causing Cushing syndrome, either alone or as part of Carney complex.

What a diagnosis changes

Biochemical screening for cortisol excess allows Cushing syndrome to be recognised and treated early.

Genes analysed

Also known as

pigmented nodular adrenocortical disease; PPNAD; primary pigmented nodular adrenal dysplasia

Includes 5 related subtypes ↓
  • isolated primary pigmented nodular adrenocortical disease
  • pigmented nodular adrenocortical disease, primary, 1
  • pigmented nodular adrenocortical disease, primary, 2
  • pigmented nodular adrenocortical disease, primary, 3
  • pigmented nodular adrenocortical disease, primary, 4
MONDO:0015999Orphanet 189439MedGen 930501

ARMC5-related primary bilateral macronodular adrenal hyperplasia

Autosomal dominant

Enlargement of both adrenal glands with multiple nodules that can slowly produce excess cortisol in adulthood.

What a diagnosis changes

Allows biochemical screening for cortisol excess in carriers and their relatives.

Genes analysed

Also known as

ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation; ACTH-independent macronodular adrenal hyperplasia type 2; AIMAH2; ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5; primary macronodular adrenal hyperplasia

MONDO:0014416OMIM 615954MedGen 863240

Limitations

  • Deletions of one or more PRKAR1A exons, or the whole gene, cause a share of Carney complex cases and need copy-number analysis, so they may not be detected.

Other endocrine conditions

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