ODCs

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7 OMIM references -
6 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Aicardi-GoutiÃ¨res syndrome

Hereditary cerebral hemorrhage with amyloidosis, Dutch type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SAMHD1	(0.56)	APP

Citations in the biomedical literature:

Aicardi-GoutiÃ¨res syndrome		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	Synonym(s): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid		Synonym(s): - HCHWA, Dutch type - HCHWA-D

	Classification (Orphanet): - 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: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 7 OMIM references - 1 MeSH reference: C535607		External references: 1 OMIM reference - 2 MeSH references: C537944 / D028243


COMMON SIGNS	- Seizures / epilepsy / absences / spasms / status epilepticus

Aicardi-GoutiÃ¨res syndrome		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	Very frequent - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Porencephaly Frequent - Coloboma of the eyelid - Hemiplegia / diplegia / hemiparesia / limb palsy Occasional - Microcephaly - Plagiocephaly - Ptosis		Very frequent - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline Frequent - Intracranial / cerebral calcifications - Transient cerebral ischemia / stroke Occasional - Early death / lethality