ODCs

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4 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Severe intellectual deficit and progressive spastic paraplegia

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AP4S1	(0.56)	APP

Citations in the biomedical literature:

Severe intellectual deficit and progressive spastic paraplegia		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): - AP4 deficiency syndrome		Synonym(s): - HCHWA, Piedmont type

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): (no data available)		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: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Very frequent - Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral / meningeal hemorrhage - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Psychic / psychomotor regression / dementia / intellectual decline - Sensitive trouble / deficit - Transient cerebral ischemia / stroke Frequent - Cerebral vascular anomalies - Facial pain / cephalalgia / migraine - Psychic / behavioural troubles Occasional - Early death / lethality
Severe intellectual deficit and progressive spastic paraplegia
(no data available)