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

Summary

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

13 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

Help
  • 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
Show all (32)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk