Details of Disease

General Information of Disease (ID: DISVL3IP)

• Disease Name: Carney complex
• Synonyms: Myxoma - spotty pigmentation - endocrine overactivity; Carney Complex, type 1; Carney Complex, type 2; Carney complex; Carney's syndrome; nevi, atrial myxoma, skin myxoma, ephelides syndrome; CNC; lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome; lamb syndrome; lamb; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome; atrial myxoma with lentigines; NAME syndrome
• Definition: Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.
• Disease Hierarchy:
  DIS3HIWD: Autosomal dominant disease
  DISVL3IP: Carney complex
• Disease Identifiers:
  MONDO ID: MONDO_0015285
  MESH ID: D056733
  UMLS CUI: C0406810
  MedGen ID: 140810
  Orphanet ID: 1359
  SNOMED CT ID: 733491005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRKAR1A	TTNAHEX	Supportive	Autosomal dominant	[1]
GH1	TTT3YKH	Strong	Biomarker	[2]
GNA11	TTSRXJW	Strong	Genetic Variation	[3]
HCAR3	TT8WFXV	Strong	Biomarker	[4]
KCNJ2	TTH7UO3	Strong	Genetic Variation	[5]
KCNJ5	TTEO25X	Strong	Genetic Variation	[6]
PDE11A	TTTWC79	Strong	Biomarker	[6]
RCVRN	TTDQTEY	Strong	Biomarker	[7]
SLC8A1	TTCF82X	Strong	Biomarker	[8]
USP8	TT1J07C	Strong	Altered Expression	[9]

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MFAP1	OTZN4FT3	Disputed	Genetic Variation	[10]
PRKAR1A	OT589JA2	Supportive	Autosomal dominant	[1]
ADO	OTRLGQ7V	Strong	Biomarker	[11]
AIP	OTDJ3OSV	Strong	Genetic Variation	[12]
ASMTL	OTPUGCZO	Strong	Biomarker	[13]
CABLES1	OTMN4XSX	Strong	Biomarker	[9]
MEN1	OTN6U6V0	Strong	Biomarker	[14]
PRKACB	OT6RMDCE	Strong	Genetic Variation	[15]
PRKAR1B	OT777OHS	Strong	Genetic Variation	[16]
PTBP2	OTF4S7NE	Strong	Biomarker	[17]
SDF4	OTQ7WFYW	Strong	Biomarker	[18]
SDHC	OTC8G2MX	Strong	Biomarker	[19]

References

• [1] Carney Complex. 2003 Feb 5 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [2] Surgical Management of Carney Complex-Associated Pituitary Pathology.Neurosurgery. 2017 May 1;80(5):780-786. doi: 10.1227/NEU.0000000000001384.
• [3] Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl.Pediatr Blood Cancer. 2017 Jun;64(6):10.1002/pbc.26400. doi: 10.1002/pbc.26400. Epub 2016 Dec 24.
• [4] Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gs alpha gene.Hum Genet. 1996 Aug;98(2):185-8. doi: 10.1007/s004390050187.
• [5] 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.Eur J Hum Genet. 2012 May;20(5):534-9. doi: 10.1038/ejhg.2011.239. Epub 2011 Dec 14.
• [6] Genetics of adrenocortical disease: an update.Curr Opin Endocrinol Diabetes Obes. 2012 Jun;19(3):159-67. doi: 10.1097/MED.0b013e328352f013.
• [7] Clinicopathological roles of aberrantly expressed recoverin in malignant tumor cells.Ophthalmic Res. 2010;43(3):139-44. doi: 10.1159/000253486. Epub 2009 Oct 30.
• [8] Green and facile surface modification of cellulose nanocrystal as the route to produce poly(lactic acid) nanocomposites with improved properties.Carbohydr Polym. 2018 Oct 1;197:204-214. doi: 10.1016/j.carbpol.2018.05.087. Epub 2018 Jun 4.
• [9] PATHOGENESIS OF CUSHING DISEASE: AN UPDATE ON THE GENETICS OF CORTICOTROPINOMAS.Endocr Pract. 2018 Oct 2;24(10):907-914. doi: 10.4158/EP-2018-0111. Epub 2018 Aug 7.
• [10] Clinical phenotypes and molecular genetic mechanisms of Carney complex.Lancet Oncol. 2005 Jul;6(7):501-8. doi: 10.1016/S1470-2045(05)70244-8.
• [11] 8-Cl-adenosine inhibits proliferation and causes apoptosis in B-lymphocytes via protein kinase A-dependent and independent effects: implications for treatment of Carney complex-associated tumors.J Clin Endocrinol Metab. 2009 Oct;94(10):4061-9. doi: 10.1210/jc.2009-0759. Epub 2009 Sep 22.
• [12] Growth hormone-producing pituitary adenomas in childhood and young adulthood: clinical features and outcomes.Pituitary. 2018 Feb;21(1):1-9. doi: 10.1007/s11102-017-0836-4.
• [13] Malignant melanotic schwannian tumor: a clinicopathologic, immunohistochemical, and gene expression profiling study of 40 cases, with a proposal for the reclassification of "melanotic schwannoma".Am J Surg Pathol. 2014 Jan;38(1):94-105. doi: 10.1097/PAS.0b013e3182a0a150.
• [14] Screening for genetic causes of growth hormone hypersecretion.Growth Horm IGF Res. 2016 Oct-Dec;30-31:52-57. doi: 10.1016/j.ghir.2016.10.004. Epub 2016 Oct 12.
• [15] Sequence analysis of the catalytic subunit of PKA in somatotroph adenomas.Eur J Endocrinol. 2014 Dec;171(6):705-10. doi: 10.1530/EJE-14-0545. Epub 2014 Sep 15.
• [16] Haploinsufficiency at the protein kinase A RI alpha gene locus leads to fertility defects in male mice and men.Mol Endocrinol. 2006 Oct;20(10):2504-13. doi: 10.1210/me.2006-0060. Epub 2006 May 25.
• [17] Molecular cloning and characterization of human PTB-like protein: a possible retinal autoantigen of cancer-associated retinopathy.J Neuroimmunol. 2001 Nov 1;120(1-2):161-9. doi: 10.1016/s0165-5728(01)00427-1.
• [18] Cancer-related diseases of the eye: the role of calcium and calcium-binding proteins.Biochem Biophys Res Commun. 2004 Oct 1;322(4):1153-65. doi: 10.1016/j.bbrc.2004.07.109.
• [19] Recurrent epimutation of SDHC in gastrointestinal stromal tumors.Sci Transl Med. 2014 Dec 24;6(268):268ra177. doi: 10.1126/scitranslmed.3009961.