Cytoscape Web
Click node...

Alpha-N-acetylgalactosaminidase deficiency type 2
1 OMIM reference -
1 associated gene
9 connected diseases
14 signs/symptoms
Disease Type of connection
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 3
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Adult-onset Alpha-N-acetylgalactosaminidase deficiency
- Kanzaki disease
- NAGA deficiency type 2
- Schindler disease type 2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NAGA P17050104170
Very frequent
- Autosomal recessive inheritance
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Telangiectasiae of the skin
- Vascular anomalies of skin / mucosae

Frequent
- Cardiomegaly
- Coarse face
- Corneal clouding / opacity / vascularisation
- Depressed nasal bridge
- Hearing loss / hypoacusia / deafness
- Lymphedema
- Peripheral neuropathy
- Thick lips
- Tinnitus