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Alpha-N-acetylgalactosaminidase deficiency type 2

Disease definition

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ORPHA:79280

  • Synonym(s):
    • Adult-onset Alpha-N-acetylgalactosaminidase deficiency
    • Kanzaki disease
    • NAGA deficiency type 2
    • Schindler disease type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E77.1
  • OMIM: 609242
  • UMLS: C1836522
  • MeSH: -
  • GARD: 9161
  • MedDRA: -

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