ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Alpha-N-acetylgalactosaminidase deficiency type 3

Hereditary cerebral hemorrhage with amyloidosis, Italian 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 3		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): - NAGA deficiency type 3 - Schindler disease type 3		Synonym(s): - HCHWA, Italian 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: childhood 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	- Seizures / epilepsy / absences / spasms / status epilepticus

Alpha-N-acetylgalactosaminidase deficiency type 3		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Very frequent - Autism / autistic disoders - Autosomal recessive inheritance - Cataract / lens opacification - Intellectual deficit / mental / psychomotor retardation / learning disability - Strabismus / squint Frequent - Cardiomyopathy / hypertrophic / dilated - Hepatomegaly / liver enlargement (excluding storage disease)		Very frequent - Autosomal dominant inheritance - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Transient cerebral ischemia / stroke Frequent - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline