Conditions / Genetic
Kanzaki disease
info · Genetic
A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13.
Signs and symptoms
- Mild intellectual disability
- Angiokeratoma corporis diffusum
- Lacunar stroke
- Tortuosity of conjunctival vessels
- Petechiae
- Peripheral axonal neuropathy
- Vertigo
- Aminoaciduria
- Distal muscle weakness
- Coarse facial features
Also known as: NAGA deficiency type 2; adult-onset alpha-N-acetylgalactosaminidase deficiency; alpha-N-acetylgalactosaminidase deficiency type 2