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Cerebroretinal vasculopathy
1 OMIM reference -
1 associated gene
20 connected diseases
10 signs/symptoms
Disease Type of connection
Aicardi-Goutières syndrome
Chilblain lupus
HERNS syndrome
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):
- CRV
- Grand-Kaine-Fulling syndrome
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
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
- 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