Carney-stratakis Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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

Genes related to Carney-stratakis Syndrome

SDHD
SDHB
SDHC

View recommended genes panels

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.

Click here to know more about Mendelian.

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.

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 Panel complete gene list RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, ENG, FH, GATA2, ALK, GPC3, APC, SMAD4, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF2, ATM, PAX5, PMS1, PMS2, PHOX2B, PRF1, PRKAR1A, BARD1, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RET 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 Panel complete gene list BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A, TK2, TSFM, TUFM, UQCRB, LPIN1, GFM1, MRPS16, SLC25A20, SLC25A19, MRPS22, PUS1, LRPPRC, NDUFAF5, COX4I2, COQ8A, TFB1M, LARS2, NDUFA13, RRM2B, SARS2, PDSS1, NAGS, ATPAF2, NDUFAF1, MMAA, MMAB, NUBPL, NDUFA11, AARS2, NDUFAF4, FARS2, PDHX, RARS2, ACAD9, COX10, COX15, COX4I1, COX6B1, COX7A1, LMBRD1, PDSS2, CPT1A, ETHE1, CPT1B, CPT2, YARS2, TACO1, MMACHC, MARS2, MMADHC, COQ2, COQ9, TRMU, DARS2, TTC19, SDHAF2, TMEM70, NARS2, C12orf65, FOXRED1, NDUFAF2, DGUOK, DLAT, DLD, FASTKD2, UQCRQ, MTFMT, ISCU, NDUFAF3, TYMP, AGL, SDHAF1, ETFA, ETFB, ETFDH, G6PC, SLC37A4, GAA, GBE1, GYS1, GYS2, HADHA, HADHB, HLCS, IVD, KARS, ARG1, MCCC1, MCCC2, MPI, MPV17, MRRF, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MTRR, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA7, NDUFA8, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, OPA1, OPA3, ATP5F1E, ACACA, ACACB, OTC, PC, PCCA, PCCB, ACADL, PDHA1, PDHB, PFKM, PGAM2, ACADM, AUH, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, POLG, POLG2, ACADVL, PDP1, ACAT1, PYGL, PYGM 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 Panel complete gene list BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SURF1, UQCRB, LRPPRC, NDUFAF5, COX4I2, NDUFA13, ATPAF2, NDUFAF1, NUBPL, NDUFA11, NDUFAF4, PDHX, COX10, COX15, COX4I1, COX6B1, COX7A1, TACO1, TTC19, SDHAF2, TMEM70, FOXRED1, NDUFAF2, DLAT, FASTKD2, UQCRQ, NDUFAF3, SDHAF1, NDUFA1, NDUFA10, NDUFA2, NDUFA7, NDUFA8, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, ATP5F1E, PDHA1, PDHB, PDP1 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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