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Cerebroretinal vasculopathy

1 OMIM reference -
1 associated gene
10 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Aicardi-GoutiÃ¨res syndrome

7 OMIM references -
6 associated genes
10 signs/symptoms

Cerebroretinal vasculopathy

Aicardi-GoutiÃ¨res syndrome

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


COMMON GENES	TREX1

Citations in the biomedical literature:

Cerebroretinal vasculopathy		Aicardi-GoutiÃ¨res syndrome
	Synonym(s): - CRV - Grand-Kaine-Fulling syndrome		Synonym(s): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood 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: 1 OMIM reference - No MeSH references		External references: 7 OMIM references - 1 MeSH reference: C535607


COMMON SIGNS	- Hemiplegia / diplegia / hemiparesia / limb palsy - Seizures / epilepsy / absences / spasms / status epilepticus

Cerebroretinal vasculopathy		Aicardi-GoutiÃ¨res syndrome
	Very frequent - Autosomal dominant inheritance - Mild visual loss / impaired visual acuity - Retinal vascular anomalies / retinal telangiectasia - Structural anomalies of the nervous system Frequent - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Cataract / lens opacification - Glaucoma - Visual loss / blindness / amblyopia		Very frequent - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Porencephaly Frequent - Coloboma of the eyelid Occasional - Microcephaly - Plagiocephaly - Ptosis