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1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1

Combined cervical dystonia

1 associated gene
No signs/symptoms info

HERNS syndrome

Combined cervical dystonia

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

HERNS syndrome		Combined cervical dystonia
	Synonym(s): - Hereditary endotheliopathy - retinopathy - nephropathy - stroke		Synonym(s): (no synonyms)

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

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

	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		Epidemiological data: (no data available)

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

HERNS syndrome
	Very frequent - Autosomal dominant inheritance 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 - Visual loss / blindness / amblyopia Occasional - Ataxia / incoordination / trouble of the equilibrium - Motor deficit / trouble - Sensitive trouble / deficit
Combined cervical dystonia
(no data available)