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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
28 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Alpha-N-acetylgalactosaminidase deficiency type 1

APP NAGA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
NAGA



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Alpha-N-acetylgalactosaminidase deficiency type 1
NAGA



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Alpha-N-acetylgalactosaminidase deficiency type 1

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- NAGA deficiency type 1
- Schindler disease type 1

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
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
External references:
1 OMIM reference -
No MeSH references

Alpha-N-acetylgalactosaminidase deficiency type 1

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


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)