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GENATLAS PHENOTYPE
last update : 20-03-2009
Symbol MCLDP
Location Xp21.1
Name McLeod syndrome
Corresponding gene XK
Main clinical features
  • multisystem disorder which includes elevation of serum levels of the muscle isoform of creatine kinase due to a usually subclinical, nonspecific myopathy
  • acanthocytosis
  • neurological defects, chorea, myopathy with normal dystrophin, areflexia
    • Genetic determination sex linked
    Related entries XK phenotype
    Function/system disorder hematology
    Type disease
    Gene product
    Name membrane transport protein of yet unknown function containing the Kx erythrocyte antigen
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     deletions, nonsense or splice site mutations predicting an absent or truncated XK protein
    Remark(s)
    Genotype/Phenotype correlations no clear phenotype-genotype correlations