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Peripheral resistance to thyroid hormones

Disease Export to PDF
Name:
Peripheral resistance to thyroid hormones
Description:
Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
ORPHAcode:
97927
XREF(s):
Orphanet
OMIM
OMIM
ICD-10
Analyte(s):
THRB
THRA
Created:
13 May 2019 - 01:02
Changed:
01 Jul 2019 - 06:57
  • Growth retardation/short stature (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 98.48 1
    ALPL 99.97 1
    ANKRD11 100.00 1
    ARCN1 99.91 1
    ARID1A 98.84 1
    ARID1B 97.80 1
    ARID2 99.96 1
    BMP2 99.97 1
    BRAF 98.17 1
    BTK 99.34 1
    CBL 99.89 1
    CCDC8 100.00 1
    CDC45 100.00 1
    CDC6 99.94 1
    CDKN1C 97.19 1
    CDT1 94.33 1
    CREBBP 99.91 1
    CUL7 100.00 1
    DHCR7 100.00 1
    DVL1 100.00 1
    EP300 99.96 1
    FGD1 98.85 1
    FGFR3 99.67 1
    FLNA 99.89 1
    GH1 100.00 1
    GHR 99.78 1
    GHRHR 99.79 1
    GHSR 99.99 1
    GMNN 99.70 1
    HESX1 99.81 1
    HMGA2 72.70 1
    HRAS 100.00 1
    IGF1 99.96 1
    IGF1R 99.98 1
    IGF2 100.00 1
    IGFALS 100.00 1
    IHH 99.93 1
    KDM6A 98.95 1
    KMT2A 99.18 1
    KMT2D 99.98 1
    KRAS 99.92 1
    LZTR1 99.99 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK1 99.56 1
    MRAS 100.00 1
    NBAS 99.97 1
    NPR2 99.97 1
    NRAS 99.45 1
    OBSL1 99.32 1
    ORC1 99.96 1
    ORC4 99.90 1
    ORC6 99.91 1
    PAPPA2 99.91 1
    PIK3R1 99.80 1
    PLAG1 99.90 1
    POC1A 99.98 1
    POU1F1 99.92 1
    PPP1CB 99.99 1
    PTPN11 99.91 1
    RAF1 99.96 1
    RASA2 99.59 1
    RIT1 99.96 1
    RNPC3 99.76 1
    ROR2 99.24 1
    RRAS2 99.60 1
    SHOC2 99.81 1
    SHOX 94.81 1
    SMARCA4 99.98 1
    SMARCB1 100.00 1
    SOS1 99.81 1
    SOS2 99.70 1
    SOX3 97.93 1
    SPRED2 99.96 1
    SRCAP 99.97 1
    STAT5B 99.94 1
    TOP3A 99.95 1
    TRIM37 99.81 1
    WNT5A 99.96 1
    YY1 99.63 1
  • Thyroid disgenesis (38 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AP2S1 100.00 0 No comment
    CASR 100.00 0 No comment
    CDCA8 100.00 0 No comment
    DUOX1 100.00 0 No comment
    DUOX2 100.00 0 No comment
    DUOXA2 100.00 0 No comment
    DYRK1A 100.00 0 No comment
    ELN 100.00 0 No comment
    FOXE1 60.48 0 No comment
    GAS1 62.99 0 No comment
    GLIS3 100.00 0 No comment
    GNA11 99.51 0 No comment
    GNAS 98.96 0 No comment
    GNAS-AS1 100.00 0 No comment
    IYD 100.00 0 No comment
    JAG1 99.66 0 No comment
    KAT6B 100.00 0 No comment
    KDM6A 100.00 0 No comment
    KMT2D 100.00 0 No comment
    NKX2-1 92.46 0 No comment
    NKX2-5 100.00 0 No comment
    NTN1 95.84 0 No comment
    PAX8 100.00 0 No comment
    SALL1 100.00 0 No comment
    SECISBP2 98.68 0 No comment
    SLC11A2 100.00 0 No comment
    SLC26A4 99.99 0 No comment
    SLC26A7 100.00 0 No comment
    SLC5A5 100.00 0 No comment
    STX16 100.00 0 No comment
    TBX1 77.39 0 No comment
    TG 100.00 0 No comment
    THRA 100.00 0 No comment
    THRB 100.00 0 No comment
    THPO 99.84 0 No comment
    TSHR 100.00 0 No comment
    TUBB1 100.00 0 No comment
    URB1 99.99 0 No comment