Carney Complex, Type 1; Cnc1

Description

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 glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

Clinical Features

Top most frequent phenotypes and symptoms related to Carney Complex, Type 1; Cnc1

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever
  • Fatigue
  • Respiratory distress
  • Congestive heart failure
  • Osteoporosis
  • Weight loss

And another 50 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Carney Complex, Type 1; Cnc1 Is also known as lamb syndrome, myxoma, spotty pigmentation, and endocrine overactivity, carney myxoma-endocrine complex, car, carney syndrome, name syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Carney Complex, Type 1; Cnc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Endocrine Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, TP53, VHL, CDC73, SDHAF2, TMEM127, MAX, MEN1, PRKAR1A, PTEN, RET
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
VistaSeq Hereditary Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Vistaseq Hereditary Cancer Panel Without BRCA.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BMPR1A, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM, PMS2, PRKAR1A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
VistaSeq Endrocrine Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SDHB, SDHC, SDHD, TP53, VHL, CDC73, TMEM127, MAX, MEN1, NF1, PRKAR1A, PTEN, RET
Specificity
8 %
Genes
100 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

STX16, TBCE, TBX1, CASR, CHD7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH
Specificity
6 %
Genes
100 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago (United States).

STX16, TBCE, TBX1, CASR, CDH7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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