ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Early-onset spastic ataxia-neuropathy syndrome

Hereditary cerebral hemorrhage with amyloidosis, Italian type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AFG3L2	(0.56)	APP

Citations in the biomedical literature:

Early-onset spastic ataxia-neuropathy syndrome		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): - AFG3L2-associated spastic ataxia-neuropathy syndrome - Autosomal recessive spastic ataxia type 5 - SPAX5		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): - Diseases of the nervous system -		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

Hereditary cerebral hemorrhage with amyloidosis, Italian type
	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 - Seizures / epilepsy / absences / spasms / status epilepticus
Early-onset spastic ataxia-neuropathy syndrome
(no data available)