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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.
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:34 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include always present findings: Mild intellectual disability, Angiokeratoma corporis diffusum, Lacunar stroke, and Tortuosity of conjunctival vessels and others. 25 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Peripheral axonal neuropathy, Mild intellectual disability, Difficulty with thinking and memory (cognitive impairment) |
Skin | 6 | Angiokeratoma corporis diffusum, Dry skin, Lymphedema |
Head and neck | 3 | Coarse facial features, Thick lower lip vermilion, Lip telangiectasia |
Ears | 2 | Vertigo, Inner ear hearing loss (sensorineural hearing impairment) |
Muscles | 2 | Distal muscle weakness, Brain shrinkage (cerebral atrophy) |
Kidneys and urinary system | 1 | Increased urinary O-linked sialopeptides |
Heart and blood vessels | 1 | Lacunar stroke |
Eyes | 1 | Tortuosity of conjunctival vessels |
NAGA encodes alpha-N-acetylgalactosaminidase (411 aa). Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids Highest expression in Cells EBV-transformed lymphocytes (39.3 TPM) and Lung (35.4 TPM).
Alpha-N-acetylgalactosaminidase deficiency type 2 is associated with mutations in the NAGA gene on chromosome 22.
NAGA is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.
Genetic testing for NAGA is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for alpha-N-acetylgalactosaminidase deficiency type 2.
1 publication has been identified in PubMed for alpha-N-acetylgalactosaminidase deficiency type 2. Research spans Basic Science / Preclinical (100%).
Bullert AJ (2024). [PMID: 39392776](https://pubmed.ncbi.nlm.nih.gov/39392776/). *ACS chemical neuroscience*. [Basic Science / Preclinical]