Carney complex

General Information (adopted from Orphanet):

Synonyms, Signs: Myxoma - spotty pigmentation - endocrine overactivity
Carney syndrome
Number of Symptoms 30
OrphanetNr: 1359
OMIM Id: 160980
ICD-10: D44.8
UMLs: C0406810
MeSH: D056733
Snomed: 239132009

Prevalence, inheritance and age of onset:

Prevalence: > 750 cases - PMID: 26130139 [IBIS]
Inheritance: Autosomal dominant
- PMID: 26130139 [IBIS]
Age of onset: Neonatal
- PMID: 17047382 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Adrenal/paraganglial tumor
 -Rare endocrine disease
 -Rare oncologic disease
Genetic cardiac tumor
 -Rare genetic disease
Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin disease
Mesenchymatous palpebral tumor
 -Rare eye disease
 -Rare genetic disease
Multiple polyglandular tumor
 -Rare endocrine disease
 -Rare genetic disease
 -Rare oncologic disease
Palpebral lentiginosis
 -Rare eye disease
 -Rare genetic disease
Rare cardiac tumor
 -Rare cardiac disease
 -Rare oncologic disease
Rare disease with Cushing syndrome as a major feature
 -Rare endocrine disease


The Carney complex (CNC) is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Patients previously characterized as LAMB (lentigineses, atrial myxoma, mucocutaneous myxoma, blue nevi) or NAME (nevi, atrial myxoma, myxoid neurofibroma, ephelide) could be considered as having Carney complex (PMID:16756677).

Symptom Information: Sort by abundance 

(HPO:0011672) Cardiac myxoma Occasional [IBIS] 26130139 IBIS 3 / 7739
(HPO:0001635) Congestive heart failure 26130139 IBIS 232 / 7739
(HPO:0001645) Sudden cardiac death 26130139 IBIS 84 / 7739
(HPO:0009004) Hypoplasia of the musculature 26130139 IBIS 7 / 7739
(HPO:0100008) Schwannoma Occasional [IBIS] 26130139 IBIS 6 / 7739
(HPO:0012028) Hepatocellular adenoma Rare [IBIS] 26130139 IBIS 6 / 7739
(HPO:0006725) Pancreatic adenocarcinoma Rare [IBIS] 26130139 IBIS 3 / 7739
(HPO:0001580) Pigmented micronodular adrenocortical disease Frequent [IBIS] 26130139 IBIS 4 / 7739
(HPO:0006744) Adrenocortical carcinoma Rare [IBIS] 26130139 IBIS 10 / 7739
(HPO:0001578) Hypercortisolism Occasional [IBIS] 16756677 IBIS 17 / 7739
(HPO:0000138) Ovarian cyst Occasional [IBIS] 26130139 IBIS 25 / 7739
(HPO:0100615) Ovarian neoplasm Occasional [IBIS] 26130139 IBIS 25 / 7739
(HPO:0010784) Uterine neoplasm Rare [IBIS] 26130139 IBIS 13 / 7739
(HPO:0010788) Testicular neoplasm Rare [IBIS] 26130139 IBIS 10 / 7739
(HPO:0100619) Sertoli cell neoplasm Frequent [IBIS] 26130139 IBIS 1 / 7739
(HPO:0100669) Abnormal pigmentation of the oral mucosa 26130139 IBIS 7 / 7739
(HPO:0010284) Intra-oral hyperpigmentation 26130139 IBIS 1 / 7739
(HPO:0000845) Growth hormone excess Frequent [IBIS] 26130139 IBIS 18 / 7739
(HPO:0000870) Prolactin excess Frequent [IBIS] 26130139 IBIS 10 / 7739
(HPO:0002893) Pituitary adenoma Occasional [IBIS] 26130139 IBIS 16 / 7739
(HPO:0100814) Blue nevus Frequent [IBIS] 26130139 IBIS 3 / 7739
(HPO:0000957) Cafe-au-lait spot Rare [IBIS] 26130139 IBIS 84 / 7739
(HPO:0001003) Multiple lentigines Frequent [IBIS] 26130139 IBIS 11 / 7739
(HPO:0001482) Subcutaneous nodule Frequent [IBIS] 16756677 IBIS 17 / 7739
(HPO:0008069) Neoplasm of the skin Frequent [IBIS] 26130139 IBIS 84 / 7739
(HPO:0000854) Thyroid adenoma Occasional [IBIS] 26130139 IBIS 6 / 7739
(HPO:0002890) Thyroid carcinoma Occasional [IBIS] 26130139 IBIS 5 / 7739
(HPO:0005994) Nodular goiter Frequent [IBIS] 26130139 IBIS 2 / 7739
(HPO:0001297) Stroke 26130139 IBIS 44 / 7739
(HPO:0100013) Neoplasm of the breast Occasional [IBIS] 26130139 IBIS 18 / 7739

Associated genes:


ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
PRKAR1A rs137853303 pathogenic RCV000013510.17
PRKAR1A rs281864779 pathogenic RCV000013505.25
PRKAR1A rs281864780 pathogenic RCV000034296.2
PRKAR1A rs281864781 pathogenic RCV000034283.2
PRKAR1A rs281864782 pathogenic RCV000034284.2
PRKAR1A rs281864783 pathogenic RCV000034288.2
PRKAR1A rs281864784 pathogenic RCV000034293.2
PRKAR1A rs281864785 pathogenic RCV000013499.24
PRKAR1A rs281864786 pathogenic RCV000034292.2
PRKAR1A rs281864787 pathogenic RCV000034298.2
PRKAR1A rs281864788 pathogenic RCV000034282.2
PRKAR1A rs281864789 pathogenic RCV000034285.2
PRKAR1A rs281864790 pathogenic RCV000013498.26
PRKAR1A rs281864792 pathogenic RCV000034291.2
PRKAR1A rs281864793 pathogenic RCV000034294.2
PRKAR1A rs281864794 pathogenic RCV000034295.2
PRKAR1A rs281864795 pathogenic RCV000034297.2
PRKAR1A rs281864796 pathogenic RCV000034286.2
PRKAR1A rs281864797 pathogenic RCV000034289.2
PRKAR1A rs281864798 pathogenic RCV000013508.18
PRKAR1A rs281864799 pathogenic RCV000013500.23
PRKAR1A rs281864800 pathogenic RCV000034290.2
PRKAR1A rs281864801 pathogenic RCV000013512.24
PRKAR1A rs727503379 pathogenic RCV000151681.1
PRKAR1A rs797044568 pathogenic RCV000192091.1

Additional Information:

Diagnosis GeneReviews Since the first description of Carney complex (CNC), numerous individuals with CNC have been reported from all ethnic groups and presenting with varying numbers, combinations, and severity of manifestations. The most recently reevaluated diagnostic criteria for CNC are listed here; a definite diagnosis is given when two or more major manifestations are present: ...
Clinical Description GeneReviews The Carney complex (CNC) of skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas may be evident at birth, although the median age of diagnosis is 20 years....
Genotype-Phenotype Correlations GeneReviews Clinical and genotypic data on more than 380 affected individuals are available from more than 20 years of study at the National Institutes of Health (Bethesda, MD) and the Hospital Côchin (Paris). Phenotype analysis in 353 individuals with 80 different PRKAR1A mutations is summarized [Bertherat et al 2009]: ...
Differential Diagnosis GeneReviews Skin. Disorders in which lentigines occur include benign familial lentiginosis, Peutz-Jeghers syndrome, LEOPARD syndrome, Noonan syndrome with lentiginosis, and the Bannayan-Riley-Ruvalcaba syndrome, which is one of the phenotypes observed in the PTEN hamartoma tumor syndrome. The café au lait spots of Carney complex (CNC) can resemble those of McCune-Albright syndrome, neurofibromatosis type 1, neurofibromatosis type 2, and Watson syndrome. Epithelioid blue nevi may occur as solitary lesions in individuals who have no findings to suggest CNC. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with Carney complex (CNC), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....