Cytoscape Web
Click node...

Alpha-N-acetylgalactosaminidase deficiency type 1
1 OMIM reference -
1 associated gene
9 connected diseases
28 signs/symptoms
Disease Type of connection
Alpha-N-acetylgalactosaminidase deficiency type 2
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):
- NAGA deficiency type 1
- Schindler disease type 1
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: neonatal/infancy
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
- Hearing loss / hypoacusia / deafness
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Midbrain / brainstem / pons / medulla anomalies
- Muscle weakness / flaccidity
- Psychic / psychomotor regression / dementia / intellectual decline
- Pyramidal syndrome
- Visual loss / blindness / amblyopia

Frequent
- Autism / autistic disoders
- Dizziness
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotonia
- Myoclonus / fasciculations
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Sensitive trouble / deficit
- Strabismus / squint
- Telangiectasiae of the skin
- Vascular anomalies of skin / mucosae

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Early death / lethality
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphedema
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Peripheral neuropathy