Paragangliomas 1; Pgl1

Table of contents:

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

Description

Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (OMIM ). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (OMIM ).Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. Genetic Heterogeneity of ParagangliomasSee also PGL4 (OMIM ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; PGL3 (OMIM ), caused by mutation in the SDHC gene (OMIM ) on chromosome 1q21; PGL2 (OMIM ), caused by mutation in the SDHAF2 gene (OMIM ) on chromosome 11q13; and PGL5 (OMIM ), caused by mutation in the SDHA gene (OMIM ) on chromosome 5p15.

Genes related to Paragangliomas 1; Pgl1

SDHD

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Paragangliomas 1; Pgl1

Neoplasm
Pain
Hypertension
Hyperhidrosis
Dyspnea
Conductive hearing impairment
Tachycardia
Postural instability
Palpitations
Hoarse voice

And another 25 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

Paragangliomas 1; Pgl1 Is also known as paraganglioma, carotid body, glomus tumors, familial, 1, cbt1, glomus jugulare tumors, paragangliomas, familial, 1, chemodectomas, paragangliomas, familial nonchromaffin, 1, carotid body tumors, pgl, paragangliomata.

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.

Paragangliomas 1; Pgl1 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 8 % Genes 100 %
Hereditary Paraganglioma/Pheochromocytoma Panel. By Baylor Miraca Genetics Laboratories (United States). SDHA, SDHB, SDHC, SDHD, VHL, SDHAF2, TMEM127, MAX, RET Specificity 12 % 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 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 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 2 % Genes 100 %
Paragangliomas 1. By Center for Human Genetics, Inc (United States). SDHD Specificity 100 % Genes 100 %
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 1 % 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 2 % 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 6 % Genes 100 %

You can get up to 157 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2