ODCs

Cytoscape Web

Click node...

Cerebroretinal vasculopathy

1 OMIM reference -
1 associated gene
10 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
18 signs/symptoms

Cerebroretinal vasculopathy

HERNS syndrome

TREX1

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	TREX1

Citations in the biomedical literature:

Cerebroretinal vasculopathy		HERNS syndrome
	Synonym(s): - CRV - Grand-Kaine-Fulling syndrome		Synonym(s): - Hereditary endotheliopathy - retinopathy - nephropathy - stroke

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare renal disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the circulatory 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: <1 / 1 000 000 Average age onset: no data available Average age of death: no data available Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy - Retinal vascular anomalies / retinal telangiectasia - Seizures / epilepsy / absences / spasms / status epilepticus - Visual loss / blindness / amblyopia

Cerebroretinal vasculopathy		HERNS syndrome
	Very frequent - Mild visual loss / impaired visual acuity - Structural anomalies of the nervous system Frequent - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Cataract / lens opacification - Glaucoma		Frequent - Elocution disorders / dysarthria / dysphonia - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Facial pain / cephalalgia / migraine - Hematuria / microhematuria - Proteinuria - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Renal disease / nephropathy - Retinopathy - Transient cerebral ischemia / stroke Occasional - Ataxia / incoordination / trouble of the equilibrium - Motor deficit / trouble - Sensitive trouble / deficit