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2 OMIM references -
3 associated genes
No signs/symptoms info
COMMON GENES: 1
7 OMIM references -
6 associated genes
10 signs/symptoms
Familial infantile bilateral striatal necrosis
Aicardi-Goutières syndrome

ADAR ADAR
MT-ATP6 RNASEH2A
NUP62 RNASEH2B
RNASEH2C
SAMHD1
TREX1


COMMON
GENES
ADAR



Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
Aicardi-Goutières syndrome
RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1



Familial infantile bilateral striatal necrosis
Aicardi-Goutières syndrome

Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral necrosis

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
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

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

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

Aicardi-Goutières syndrome

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


Familial infantile bilateral striatal necrosis

(no data available)