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Chilblain lupus
2 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
Cerebroretinal vasculopathy
1 OMIM reference -
1 associated gene
10 signs/symptoms
Chilblain lupus
Cerebroretinal vasculopathy

SAMHD1
(UniProt - OMIM)
 TREX1
(UniProt - OMIM)
TREX1
(UniProt - OMIM)

COMMON
GENES 		TREX1


Citations in the biomedical literature:


Chilblain lupus
SAMHD1 TREX1
Cerebroretinal vasculopathy



Chilblain lupus
Cerebroretinal vasculopathy

Synonym(s):
(no synonyms)

Synonym(s):
- CRV
- Grand-Kaine-Fulling syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
(no data available)
Epidemiological data:
(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:
2 OMIM references -
1 MeSH reference: C535924
External references:
1 OMIM reference -
No MeSH references
Cerebroretinal vasculopathy

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


Chilblain lupus

(no data available)