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

ADAR
(UniProt - OMIM)
 APP
(UniProt - OMIM)
RNASEH2A
(UniProt - OMIM)
RNASEH2B
(UniProt - OMIM)
RNASEH2C
(UniProt - OMIM)
SAMHD1
(UniProt - OMIM)
TREX1
(UniProt - OMIM)

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


Citations in the biomedical literature:


Aicardi-Goutières syndrome
ADAR RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



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

Synonym(s):
- Encephalopathy with basal ganglia calcification
- Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
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):
- 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:
(no data available)
External references:
7 OMIM references -
1 MeSH reference: C535607
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Intellectual deficit / mental / psychomotor retardation / learning disability

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

Very frequent
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertonia / spasticity / rigidity / stiffness
- Porencephaly

Frequent
- Coloboma of the eyelid
- Hemiplegia / diplegia / hemiparesia / limb palsy

Occasional
- Microcephaly
- Plagiocephaly
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Autosomal dominant inheritance
- 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