Schindler disease type 1

Summary
Synonym
  • NAGA deficiency type 1
  • alpha-N-acetylgalactosaminidase deficiency type 1
Definition
A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
Super Class
Schindler disease
External Links
Disease Ontology
DOID:0112318
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 11 - 20 of 38 in total
HPO ID HPO Term
HP:0002240 Hepatomegaly
HP:0000962 Hyperkeratosis
HP:0007360 Aplasia/Hypoplasia of the cerebellum
HP:0001263 Global developmental delay
HP:0100704 Cerebral visual impairment
HP:0001250 Seizure
HP:0003401 Paresthesia
HP:0000648 Optic atrophy
HP:0001639 Hypertrophic cardiomyopathy
HP:0000365 Hearing impairment
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