Alpha-N-acetylgalactosaminidase deficiency type 2

Orpha code: 79280OMIM code: 609242

Definition

A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.

Disease data
Classification

Clinical subtype

Synonyms
Adult-onset Alpha-N-acetylgalactosaminidase deficiency
Choroba Kanzaki
Choroba Schindlera typu 2
Niedobór alfa-N-galaktozoaminidazy dorosłych
Niedobór NAGA typu 2
Kanzaki disease
NAGA deficiency type 2
Schindler disease type 2
ORPHA code
79280
OMIM code
609242
ICD10 code
E77.1
ICD11 code
-

No additional description.

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