alpha-N-acetylgalactosaminidase deficiency type 1
Findings
No curated finding names alpha-N-acetylgalactosaminidase deficiency type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
Definition from the Mondo Disease Ontology (MONDO:0012221), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal brainstem morphologyHPOHP:0002363
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Very frequent (80% to 99% of cases)
- Cerebral visual impairmentHPOHP:0100704
- Very frequent (80% to 99% of cases)
- Developmental regressionHPOHP:0002376
- Very frequent (80% to 99% of cases)
- Generalized amyotrophyHPOHP:0003700
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Frequent (30% to 79% of cases)
- AutismHPOHP:0000717
- Frequent (30% to 79% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Frequent (30% to 79% of cases)
- HyperkeratosisHPOHP:0000962
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NAGAHGNC:7631
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: alpha-N-acetylgalactosaminidase deficiency type 1
- Also called
- NAGA deficiency type 1Schindler disease type 1Schindler disease, type III