CARNEY COMPLEX, TYPE 1

General Information (adopted from Orphanet):

Synonyms, Signs: MYXOMA, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY
CARNEY MYXOMA-ENDOCRINE COMPLEX
NAME SYNDROME
CARNEY SYNDROME
LAMB SYNDROME
CNC1
CAR
Number of Symptoms 27
OrphanetNr:
OMIM Id: 160980
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100008) Schwannoma 6 / 7739
2
(HPO:0002666) Pheochromocytoma 9 / 7739
3
(HPO:0000845) Growth hormone excess 18 / 7739
4
(HPO:0002893) Pituitary adenoma 16 / 7739
5
(HPO:0008225) Thyroid follicular hyperplasia 1 / 7739
6
(HPO:0002890) Thyroid carcinoma 5 / 7739
7
(HPO:0100814) Blue nevus 3 / 7739
8
(HPO:0003764) Nevus 17 / 7739
9
(HPO:0006769) Myxoid subcutaneous tumors 1 / 7739
10
(HPO:0007481) Hyperpigmented nevi 6 / 7739
11
(HPO:0000995) Melanocytic nevus 63 / 7739
12
(HPO:0005587) Profuse pigmented skin lesions 1 / 7739
13
(HPO:0002297) Red hair 9 / 7739
14
(HPO:0001635) Congestive heart failure 232 / 7739
15
(OMIM) Eyelid myxoma 1 / 7739
16
(OMIM) Hirsuitism 1 / 7739
17
(OMIM) Primary adrenocortical nodular hyperplasia 1 / 7739
18
(OMIM) Atrial myxoma 1 / 7739
19
(MedDRA:10014970) Ephelides 1 / 7739
20
(OMIM) Ventricular myxoma 1 / 7739
21
(OMIM) Psammomatous melanotic schwannomas 1 / 7739
22
(OMIM) Conjunctival and scleral pigmentation 1 / 7739
23
(OMIM) Testicular Sertoli cell tumor, calcified 1 / 7739
24
(OMIM) Cushing disease 1 / 7739
25
(OMIM) Centrofacial/mucosal lentigines 1 / 7739
26
(OMIM) Pigmented micronodular adrenal dysplasia 1 / 7739
27
(OMIM) Mammary ductal fibroadenoma 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine ...
Clinical Description OMIM Rees et al. (1973) reported a young man with red hair and fair skin who had multiple lentigines and a left atrial myxoma. Autosomal dominant inheritance was suggested. Follow-up of this patient by Atherton et al. (1980) referred ...
Molecular genetics OMIM In patients with Carney complex, Kirschner et al. (2000) identified mutations in the PRKAR1A gene (188830.00001-188830.0003).

Kirschner et al. (2000) identified 15 distinct PRKAR1A mutations in affected members of 22 (41%) of 54 kindreds with Carney ...