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X-linked Ehlers-Danlos syndrome

Disease Export to PDF
Name:
X-linked Ehlers-Danlos syndrome
Description:
A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.
ORPHAcode:
75497
Synonyms:
EDS V
Ehlers-Danlos syndrome type 5
X-linked EDS
XREF(s):
Orphanet
ICD-10
OMIM
MeSH
Analyte(s):
FLNA
Created:
17 Jul 2019 - 01:41
Changed:
22 Jun 2023 - 16:14
  • 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