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GENATLAS PHENOTYPE
last update : 26/09/2005
Symbol ZWS5
Location 1q22
Name Zellweger cerebrohepatorenal syndrome, variant type 5
Other name(s) peroxisome biogenesis disorder, complementation group J (Japan
Corresponding gene PEX19
Main clinical features
  • characterized by facial dysmorphy, hepatomegaly, renal cysts, severe hypotonia, blindness, deafness and mental retardation, accumulation of very long chain fatty acid, abnormal bile intermediates, deficiency of plasmalogens and absent peroxisomes
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/peroxisomal
    kidney and urinary tract
    digestive tract/liver and annex
    neurology
    Type disease
    Gene product
    Name peroxisomal biogenesis factor 19