Kanzaki disease

Summary
Synonym
  • NAGA deficiency type 2
  • adult-onset alpha-N-acetylgalactosaminidase deficiency
  • alpha-N-acetylgalactosaminidase 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.
Super Class
Schindler disease
External Links
Disease Ontology
DOID:0112319
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4668 NAGA alpha-N-acetylgalactosaminidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
17939 Naga N-acetyl galactosaminidase, alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
315165 Naga alpha-N-acetylgalactosaminidase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P17050 Alpha-N-acetylgalactosaminidase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 34 in total
HPO ID HPO Term
HP:0001256 Intellectual disability, mild
HP:0012471 Thick vermilion border
HP:0000365 Hearing impairment
HP:0005280 Depressed nasal bridge
HP:0000280 Coarse facial features
HP:0007759 Opacification of the corneal stroma
HP:0001004 Lymphedema
HP:0200034 Papule
HP:0001640 Cardiomegaly
HP:0000214 Lip telangiectasia
Displaying 1 entry
Gene ID Gene Symbol Description
4668 NAGA alpha-N-acetylgalactosaminidase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024