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Cerebroretinal vasculopathy

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Ataxia-telangiectasia variant

1 associated gene
No signs/symptoms info

Cerebroretinal vasculopathy

Ataxia-telangiectasia variant

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TREX1	(0.52)	ATM

Citations in the biomedical literature:

Cerebroretinal vasculopathy		Ataxia-telangiectasia variant
	Synonym(s): - CRV - Grand-Kaine-Fulling syndrome		Synonym(s): - v-AT

	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: (no data available)

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

Cerebroretinal vasculopathy
	Very frequent - Autosomal dominant inheritance - Mild visual loss / impaired visual acuity - Retinal vascular anomalies / retinal telangiectasia - Structural anomalies of the nervous system Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Cataract / lens opacification - Glaucoma - Seizures / epilepsy / absences / spasms / status epilepticus - Visual loss / blindness / amblyopia
Ataxia-telangiectasia variant
(no data available)