Carney-stratakis Syndrome

Description

Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.

Clinical Features

Top most frequent phenotypes and symptoms related to Carney-stratakis Syndrome

  • Hearing impairment
  • Neoplasm
  • Pain
  • Dysphagia
  • Abdominal pain
  • Weight loss
  • Gastrointestinal hemorrhage
  • Cranial nerve paralysis
  • Tinnitus
  • Sarcoma

And another 6 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-stratakis Syndrome Is also known as carney-stratakis dyad, gist-paraganglioma dyad, paraganglioma and gastric stromal sarcoma, carney-stratakis syndrome, paraganglioma and gastrointestinal stromal tumor, carney dyad.

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-stratakis Syndrome Recommended genes panels

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

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, VHL, WT1, CDKN1C, SDHAF2, FLCN, FH, GPC3, MET, PTEN
Specificity
24 %
Genes
100 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, VHL, SDHAF2, TMEM127, MAX, RET
Specificity
34 %
Genes
100 %
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
22 %
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
6 %
Genes
100 %
Paragangliomas 1.

By Center for Human Genetics, Inc (United States).

SDHD
Specificity
100 %
Genes
34 %
Comprehensive Mitochondrial Metabolic Panel.

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

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
2 %
Genes
100 %
Respiratory Chain Deficiency.

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

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SURF1, UQCRB, LRPPRC, NDUFAF5, COX4I2, NDUFA13, ATPAF2, NDUFAF1, NUBPL, NDUFA11, NDUFAF4, PDHX, COX10 , (...)

View the complete list with 35 more genes
Specificity
6 %
Genes
100 %
VistaSeq Renal Cell Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SDHB, SDHC, SDHD, EPCAM, TP53, TSC1, TSC2, VHL, WT1, FLCN, FH, GPC3, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN
Specificity
16 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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