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Cerebrotendinous xanthomatosis

Disease Export to PDF
Name:
Cerebrotendinous xanthomatosis
Description:

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
ORPHAcode:
909
Synonyms:
CTX
Sterol 27-hydroxylase deficiency
XREF(s):
Orphanet
OMIM
Created:
23 May 2018 - 17:24
Changed:
02 Aug 2018 - 08:54
  • Cataract - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.98 1
    ADAMTSL4 99.66 1
    AGK 99.99 1
    ALDH18A1 99.96 1
    B3GLCT 99.90 1
    BCOR 99.97 1
    BEST1 99.86 1
    BFSP1 100.00 1
    BFSP2 99.09 1
    CHMP4B 99.96 1
    COL11A1 90.72 1
    COL18A1 99.99 1
    COL2A1 99.87 1
    CRYAA 19.49 1
    CRYAB 100.00 1
    CRYBA1 99.99 1
    CRYBA2 100.00 1
    CRYBA4 100.00 1
    CRYBB1 99.46 1
    CRYBB2 99.94 1
    CRYBB3 99.99 1
    CRYGB 99.99 1
    CRYGC 100.00 1
    CRYGD 100.00 1
    CRYGS 100.00 1
    CTDP1 99.97 1
    CYP27A1 100.00 1
    CYP51A1 97.82 1
    DNMBP 99.94 1
    EPG5 99.95 1
    EPHA2 99.99 1
    EYA1 99.81 1
    HYCC1 99.81 1
    FBN1 99.85 1
    FOXE3 99.29 1
    FTL 99.99 1
    FYCO1 100.00 1
    FZD4 100.00 1
    GALK1 100.00 1
    GALT 100.00 1
    GCNT2 100.00 1
    GJA1 100.00 1
    GJA3 100.00 1
    GJA8 99.99 1
    HMX1 100.00 1
    HSF4 99.98 1
    INPP5K 99.94 1
    INTS1 100.00 1
    JAM3 100.00 1
    LCAT 99.97 1
    LEMD2 100.00 1
    LIM2 100.00 1
    LSS 99.98 1
    MAF 99.73 1
    MIPEP 99.98 1
    MIR184 100.00 1
    MYH9 99.95 1
    NDP 99.98 1
    NF2 100.00 1
    NHS 99.96 1
    OCRL 99.89 1
    OPA3 100.00 1
    P3H2 99.93 1
    PANK4 100.00 1
    PAX6 99.95 1
    PITX3 100.00 1
    PXDN 100.00 1
    RRAGA 100.00 1
    SIL1 99.95 1
    SIPA1L3 99.97 1
    SLC16A12 100.00 1
    SLC33A1 99.67 1
    TDRD7 99.87 1
    UNC45B 100.00 1
    VIM 100.00 1
    VSX2 99.99 1
    WFS1 99.99 1
  • Metabolic diseases with hepatic disorders (20 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATP7B 100.00 1 Part of Custom Gastro-pneumo panel
    CPT1A 100.00 1 Part of Custom Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Custom Gastro-pneumo panel
    DGUOK 100.00 1 Part of Custom Gastro-pneumo panel
    DHCR7 100.00 1 Part of Custom Gastro-pneumo panel
    EHHADH 100.00 1 Part of Custom Gastro-pneumo panel
    GBE1 100.00 1 Part of Custom Gastro-pneumo panel
    GNAS 0.00 1 Part of Custom Gastro-pneumo panel / only Exons 8 and 9
    GUSB 100.00 1 Part of Custom Gastro-pneumo panel
    LIPA 100.00 1 Part of Custom Gastro-pneumo panel
    MPV17 100.00 1 Part of Custom Gastro-pneumo panel
    NEU1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC2 100.00 1 Part of Custom Gastro-pneumo panel
    POLG 100.00 1 Part of Custom Gastro-pneumo panel
    SI 100.00 1 Part of Custom Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Custom Gastro-pneumo panel
    SMPD1 100.00 1 Part of Custom Gastro-pneumo panel
    TALDO1 100.00 1 Part of Custom Gastro-pneumo panel
    TRMU 100.00 1 Part of Custom Gastro-pneumo panel