GTR Home > Conditions/Phenotypes > Schindler disease, type 1


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001). [from OMIM]

Available tests

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Associated genes

Clinical features

  • Intellectual disability, severe
  • Muscle weakness
  • Hyperreflexia
  • Hypertonia
  • Hearing impairment
  • Lymphedema
  • Increased urinary O-linked sialopeptides
  • Cognitive impairment
  • Seizure
  • Cataract
  • Nystagmus
  • Osteopenia
  • Strabismus
  • Visual impairment
  • Optic atrophy
  • Autism
  • Hyperkeratosis
  • Muscular hypotonia
  • Spasticity
  • Global developmental delay
  • Myoclonus
  • Hypertrophic cardiomyopathy
  • Hepatomegaly
  • Vertigo
  • Developmental regression
  • Paresthesia
  • Generalized amyotrophy
  • Involuntary movements
  • Hemiplegia/hemiparesis
  • Aplasia/Hypoplasia of the cerebellum
  • Teleangiectasia of the skin
  • Cortical visual impairment
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