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Sporadic pheochromocytoma

Disease Export to PDF
Name:
Sporadic pheochromocytoma
Description:
A rare tumor of endocrine glands characterized, typically, by a unicentric, unilateral, sporadic, catecholamine-secreting neuroendocrine tumor, arising from chromaffin cells of the adrenal medulla, presenting with highly variable and non-specific manifestations, including hypertension (that can be paroxysmal, persistent, or resistant), cephalea, heart palpitations, anxiety, diaphoresis, unexplained fever, chronic fatigue and weakness, among others.
ORPHAcode:
276624
XREF(s):
Orphanet
ICD-10
ICD-10
Analyte(s):
EPAS1
VHL
RET
SDHD
SDHB
Created:
13 May 2019 - 01:02
Changed:
01 Feb 2020 - 12:07
  • Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIRE 95.00 0 NM_000383.4/ interpretable range CS1>95%
    ALPL 95.00 0 NM_000478.6/ interpretable range CS1>95%
    AP2S1 95.00 0 NM_004069.6/ interpretable range CS1>95%
    CASR 95.00 0 NM_000388.4/ interpretable range CS1>95%
    CDC73 95.00 0 NM_024529.5/ interpretable range CS1>95%
    CDKN1B 95.00 0 NM_004064.5/ interpretable range CS1>95%
    CLCN5 95.00 0 NM_000084.5/ interpretable range CS1>95%
    CYP27B1 95.00 0 NM_000785.4/ interpretable range CS1>95%
    CYP2R1 95.00 0 NM_024514.5/ interpretable range CS1>95%
    DMP1 95.00 0 NM_004407.4/ interpretable range CS1>95%
    ENPP1 95.00 0 NM_006208.3/ interpretable range CS1>95%
    FAM20C 95.00 0 NM_020223.4/ interpretable range CS1>95%
    FGF23 95.00 0 NM_020638.3/ interpretable range CS1>95%
    GATA3 95.00 0 NM_001002295.2/ interpretable range CS1>95%
    GCM2 95.00 0 NM_004752.4/ interpretable range CS1>95%
    GNA11 95.00 0 NM_002067.5/ interpretable range CS1>95%
    GNAS 95.00 0 NM_000516.7/ interpretable range CS1>95%
    HADHA 95.00 0 NM_000182.5/ interpretable range CS1>95%
    HADHB 95.00 0 NM_000183.3/ interpretable range CS1>95%
    MEN1 95.00 0 NM_130799.3/ interpretable range CS1>95%
    OCRL 95.00 0 NM_000276.4/ interpretable range CS1>95%
    PHEX 95.00 0 NM_000444.6/ interpretable range CS1>95%
    PTH 95.00 0 NM_000315.4/ interpretable range CS1>95%
    PTH1R 95.00 0 NM_000316.3/ interpretable range CS1>95%
    RET 95.00 0 NM_020975.6/ interpretable range CS1>95%
    SLC34A1 95.00 0 NM_003052.5/ interpretable range CS1>95%
    SLC34A3 95.00 0 NM_080877.3/ interpretable range CS1>95%
    NHERF1 95.00 0 NM_004252.5/ interpretable range CS1>95%
    STX16 95.00 0 NM_001001433.3/ interpretable range CS1>95%
    TBCE 95.00 0 NM_003193.5/ interpretable range CS1>95%
    VDR 95.00 0 NM_001017535.2/ interpretable range CS1>95%
  • Onco-endocine pathologies (50 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIP 100.00 1 Part of Custom Onco-endocrino panel
    ALK 100.00 1 Part of Custom Onco-endocrino panel
    ARMC5 100.00 1 Part of Custom Onco-endocrino panel
    AXIN2 100.00 1 Part of Custom Onco-endocrino panel
    BAP1 100.00 1 Part of Custom Onco-endocrino panel
    CDK4 100.00 1 Part of Custom Onco-endocrino panel
    CDKN1B 100.00 1 Part of Custom Onco-endocrino panel
    CDKN2A 100.00 1 Part of Custom Onco-endocrino panel
    CYLD 100.00 1 Part of Custom Onco-endocrino panel
    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
    FLCN 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
    HOXB13 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
    KIT 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
    MC1R 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
    MITF 100.00 1 Part of Custom Onco-endocrino panel
    NF1 100.00 1 Part of Custom Onco-endocrino panel
    PDGFRA 100.00 1 Part of Custom Onco-endocrino panel
    PHOX2B 100.00 1 Part of Custom Onco-endocrino panel
    POT1 100.00 1 Part of Custom Onco-endocrino panel
    PRKAR1A 100.00 1 Part of Custom Onco-endocrino panel
    PTCH1 100.00 1 Part of Custom Onco-endocrino panel
    PTCH2 100.00 1 Part of Custom Onco-endocrino panel
    RB1 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
    SUFU 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
  • 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