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Multiple paragangliomas associated with polycythemia

Disease Export to PDF
Name:
Multiple paragangliomas associated with polycythemia
Description:
A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.
ORPHAcode:
324299
Synonyms:
Multiple paragangliomas associated with erythrocytosis
Paraganglioma-somatostatinoma-polycythemia syndrome
XREF(s):
Orphanet
Analyte(s):
EPAS1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Paraganglioma and pheochromocytoma (29 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    DNMT3A 100.00 1 Part of custom Onco-endocrino panel
    EGLN1 100.00 1 Part of custom Onco-endocrino panel
    EGLN2 100.00 1 Part of custom Onco-endocrino panel
    EGLN3 100.00 1 Part of custom Onco-endocrino panel
    EPAS1 100.00 1 Part of custom Onco-endocrino panel
    FH 100.00 1 Part of custom Onco-endocrino panel
    GOT2 100.00 1 Part of custom Onco-endocrino panel
    HIF1A 100.00 1 Part of custom Onco-endocrino panel
    IDH3B 100.00 1 Part of custom Onco-endocrino panel
    KIF1B 100.00 1 Part of custom Onco-endocrino panel
    KMT2D 100.00 1 Part of custom Onco-endocrino panel
    MAX 100.00 1 Part of custom Onco-endocrino panel
    MDH1 100.00 1 Part of custom Onco-endocrino panel
    MDH2 100.00 1 Part of custom Onco-endocrino panel
    MEN1 100.00 1 Part of custom Onco-endocrino panel
    MERTK 100.00 1 Part of custom Onco-endocrino panel
    MET 100.00 1 Part of custom Onco-endocrino panel
    NF1 100.00 1 Part of custom Onco-endocrino panel
    PRKAR1A 100.00 1 Part of custom Onco-endocrino panel
    RET 100.00 1 Part of custom Onco-endocrino panel
    SDHA 100.00 1 Part of custom Onco-endocrino panel
    SDHAF1 100.00 1 Part of custom Onco-endocrino panel
    SDHAF2 100.00 1 Part of custom Onco-endocrino panel
    SDHAF3 100.00 1 Part of custom Onco-endocrino panel
    SDHB 100.00 1 Part of custom Onco-endocrino panel
    SDHC 100.00 1 Part of custom Onco-endocrino panel
    SDHD 100.00 1 Part of custom Onco-endocrino panel
    TMEM127 100.00 1 Part of custom Onco-endocrino panel
    VHL 100.00 1 Part of custom Onco-endocrino panel