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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
7 OMIM references -
6 associated genes
10 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Aicardi-Goutières syndrome

APP ADAR
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
TREX1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Aicardi-Goutières syndrome
ADAR RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Aicardi-Goutières syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Encephalopathy with basal ganglia calcification
- Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(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

External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
1 MeSH reference: C535607

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Aicardi-Goutières syndrome

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



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
- Seizures / epilepsy / absences / spasms / status epilepticus