GTR Home > Conditions/Phenotypes > Kanzaki disease

Summary

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001). [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Cardiomegaly
  • Tinnitus
  • Distal muscle weakness
  • Lymphedema
  • Distal sensory impairment
  • White mater abnormalities in the posterior periventricular region
  • Distal sensory impairment of all modalities
  • Increased urinary O-linked sialopeptides
  • Coarse facial features
  • Cognitive impairment
  • Opacification of the corneal stroma
  • Lip telangiectasia
  • Dry skin
  • Thick lower lip vermilion
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormality of the eye
  • Hyperkeratosis
  • Angiokeratoma corporis diffusum
  • Intellectual disability, mild
  • Cerebral atrophy
  • Vertigo
  • Aminoaciduria
  • Peripheral axonal neuropathy
  • Depressed nasal bridge
  • Telangiectasia of the oral mucosa
  • Teleangiectasia of the skin
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