ODCs

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1 OMIM reference -
1 associated gene
28 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
13 signs/symptoms

Alpha-N-acetylgalactosaminidase deficiency type 1

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type


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

Citations in the biomedical literature:

Alpha-N-acetylgalactosaminidase deficiency type 1		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): - NAGA deficiency type 1 - Schindler disease type 1		Synonym(s): - HCHWA, Piedmont type

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

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Early death / lethality - Intellectual deficit / mental / psychomotor retardation / learning disability - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Psychic / psychomotor regression / dementia / intellectual decline - Sensitive trouble / deficit

Alpha-N-acetylgalactosaminidase deficiency type 1		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Very frequent - Autosomal recessive inheritance - Hearing loss / hypoacusia / deafness - Hypertonia / spasticity / rigidity / stiffness - Midbrain / brainstem / pons / medulla anomalies - Muscle weakness / flaccidity - 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 - Strabismus / squint - Telangiectasiae of the skin - Vascular anomalies of skin / mucosae Occasional - Cardiomyopathy / hypertrophic / dilated - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hepatomegaly / liver enlargement (excluding storage disease) - Lymphedema - Peripheral neuropathy		Very frequent - Autosomal dominant inheritance - Intracranial / cerebral / meningeal hemorrhage - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Transient cerebral ischemia / stroke Frequent - Cerebral vascular anomalies - Facial pain / cephalalgia / migraine - Psychic / behavioural troubles