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HERNS syndrome
1 OMIM reference -
1 associated gene
20 connected diseases
18 signs/symptoms
Disease Type of connection
Aicardi-Goutières syndrome
Cerebroretinal vasculopathy
Chilblain lupus
Hereditary vascular retinopathy
Hereditary combined deficiency of vitamin K-dependent clotting factors
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Seckel syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Mantle cell lymphoma
Nijmegen breakage syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Synonym(s):
- Hereditary endotheliopathy - retinopathy - nephropathy - stroke
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the circulatory 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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TREX1 Q9NSU2606609
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