Lysosomal Storage Disorder
Gene: NAGA

NAGA (alpha-N-acetylgalactosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000198951
EnsemblGeneIds (GRCh37): ENSG00000198951
OMIM: 104170, Gene2Phenotype
NAGA is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Alpha-N-acetylgalactosaminidase (NAGA) deficiency has 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations.

Multiple families reported, mouse model.
Created: 13 Apr 2021, 11:15 p.m. | Last Modified: 13 Apr 2021, 11:15 p.m.

Panel Version: 0.156

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779

Publications

Created: 13 Apr 2021, 11:15 p.m.
Last Modified: 13 Apr 2021, 11:15 p.m.
Panel version: 0.156

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Kanzaki disease, MIM# 609242
Schindler disease, type I and type II 609241
alpha-N-acetylgalactosaminidase deficiency MONDO:0017779

OMIM

104170

Clinvar variants

Variants in NAGA

Penetrance

None

Publications

Panels with this gene