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GENATLAS PHENOTYPE
last update : 26-01-2009
Symbol LDS2B
Location 3p24.1
Name Loeys-Dietz syndrome, type 2B
Other name(s)
  • Loeys-Dietz aortic aneuvrysm syndrome 2
  • cardiovascular, craniofacial, neurocognitive and skeletal disease 2
    • Corresponding gene TGFBR2
    Other symbol(s) LDAAS2, CCNSD2
    Main clinical features
  • aortic dilatation/dissection, hypertelorism, bifid uvula and/or cleft palate, craniosynostosis, structural brain abnormalities, mental retardation, and generalized arterial tortuosity, dural ectasia
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    neurology
    osteo-articular
    Type disease
    Gene product
    Name transforming growth factor, beta receptor II
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     R356P in exon 4, in conserved serine-threonine kinase domain
    Remark(s)