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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 16/09/06
Symbol GLB1
Location 3p22.3
Name generalized gangliosidosis, infantile type
Other name(s)
  • Hurler variant
  • pseudo-Hurler disease
  • Corresponding gene GLB1
    Main clinical features severe cerebral degeneration leading to death within the first 2 years of life with accumulation of ganglioside in neurons, and in hepatic, splenic and other histiocytes, and in renal glomerular epithelium; and presence of skeletal deformities resembling Hurler disease
    Genetic determination autosomal recessive
    Related entries including generalized gangliosidosis juvenile type 2 (OMIM 230600)
    Function/system disorder osteo-articular
    Type disease