alpha-N-acetylgalactosaminidase deficiency type 2
Findings
No curated finding names alpha-N-acetylgalactosaminidase deficiency type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
Definition from the Mondo Disease Ontology (MONDO:0012222), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late young adult onset
HPO, annotations 2026-09-02
Features
21 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.
- Lacunar strokeHPOHP:0032325
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- PetechiaeHPOHP:0000967
- 1 of 1 reported patient
- Tortuosity of conjunctival vesselsHPOHP:0000503
- 1 of 1 reported patient
- Angiokeratoma corporis diffusumHPOHP:0001071
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
Show the remaining 9
- CardiomegalyHPOHP:0001640
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- LymphedemaHPOHP:0001004
- Frequent (30% to 79% of cases)
- Opacification of the corneal stromaHPOHP:0007759
- 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
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: alpha-N-acetylgalactosaminidase deficiency type 2
- Also called
- adult-onset Alpha-N-acetylgalactosaminidase deficiencyKanzaki diseaseNAGA deficiency type 2Schindler disease type 2