Hereditary Pheochromocytoma-paraganglioma

Description

Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Pheochromocytoma-paraganglioma

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment
  • Proteinuria
  • Pallor
  • Nausea
  • Hematuria
  • Chest pain

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Hereditary Pheochromocytoma-paraganglioma have a estimated incidence of 0.3 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Hereditary Pheochromocytoma-paraganglioma Is also known as familial pheochromocytoma-paraganglioma.

Researches and researchers

Doctors, researchs, and experts related to Hereditary Pheochromocytoma-paraganglioma extracted from public data.

Hereditary Pheochromocytoma-paraganglioma Experts map



Current Researchs and researchers

  • PARIS — Pr Pierre-François PLOUIN

    Coordinator of research network

    • Institution/s:
      — Service d'Hypertension artérielle, affections rénales et cardiovasculaires, CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
    • Research area/topic::

      COMETE : COrtico, MEdullosurrénale et Tumeurs Endocrines


  • PARIS — Ms Judith FAVIER

    Investigator of research project

    • Institution/s:
      — PARCC - Paris-Centre de recherche Cardiovasculaire (U970)
    • Research area/topic::

      MODEOMAPP: Molecular Deciphering Of Malignancy in Pheochromocytoma and Paranganglioma


  • MADRID — Dr Alberto CASCÓN SORIANO

    Investigator of research project

    • Institution/s:
      — Centro Nacional de Investigaciones Oncológicas (CNIO)
    • Research area/topic::

      Massive sequencing of genes directly or indirectly involved in the Krebs cycle in pheochromocytomas / paragangliomas with hypermethylator phenotype - ES



Mendelian

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Hereditary Pheochromocytoma-paraganglioma Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
2 %
Genes
67 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
9 %
Charcot-Marie-Tooth Syndrome.

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

SPTLC1, YARS, PRX, BSCL2, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, DCTN1, MED25, SH3TC2, DYNC1H1, DNM2, HSPB8 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
9 %
Hereditary Pheochromocytoma and Paraganglioma Panel.

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

SDHA, SDHB, SDHC, SDHD, EGLN1, VHL, KIF1B, SDHAF2, TMEM127, EPAS1, MAX, MEN1, NF1, RET
Specificity
72 %
Genes
84 %
Ataxia Exome Panel.

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

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
25 %
Charcot Marie Tooth Panel.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SPTLC1, TTR, PRX, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, MED25, SH3TC2, DYNC1H1, HSPB8, EGR2, GARS, GJB1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
9 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
9 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
9 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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