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Hereditary vascular retinopathy

1 OMIM reference -
1 associated gene
3 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
18 signs/symptoms

Hereditary vascular retinopathy

HERNS syndrome

TREX1

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	TREX1

Citations in the biomedical literature:

Hereditary vascular retinopathy		HERNS syndrome
	Synonym(s): - HVR - Hereditary vascular retinopathy - Raynaud phenomenon - migraine		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: no data available 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 - Visual loss / blindness / amblyopia

Hereditary vascular retinopathy		HERNS syndrome
	Very frequent - Anomalies of eyes and vision		Frequent - Elocution disorders / dysarthria / dysphonia - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Facial pain / cephalalgia / migraine - Hematuria / microhematuria - Hemiplegia / diplegia / hemiparesia / limb palsy - Proteinuria - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Renal disease / nephropathy - Retinal vascular anomalies / retinal telangiectasia - Retinopathy - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke Occasional - Ataxia / incoordination / trouble of the equilibrium - Motor deficit / trouble - Sensitive trouble / deficit