Kanzaki disease

Term ID

DOID:0112319

Synonyms

• adult-onset alpha-N-acetylgalactosaminidase deficiency
• alpha-N-acetylgalactosaminidase deficiency type 2
• NAGA deficiency type 2

Definition

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. https://pubmed.ncbi.nlm.nih.gov/2564952/

References

• GARD:9161
• OMIM:609242
• ORDO:79280

Ontology

Human Disease   ( DOID:0112319 )