Cytoscape Web
Click node...

Cerebroretinal vasculopathy
1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
B-cell chronic lymphocytic leukemia
6 OMIM references -
7 associated genes
No signs/symptoms info
Cerebroretinal vasculopathy
B-cell chronic lymphocytic leukemia

TREX1
(UniProt - OMIM)
 ARL11
(UniProt - OMIM)
ATM
(UniProt - OMIM)
CCND1
(UniProt - OMIM)
IGHG1
(UniProt - OMIM)
IGHV3-21
()
POT1
(UniProt - OMIM)
TP53
(UniProt - OMIM)

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


Citations in the biomedical literature:


Cerebroretinal vasculopathy
TREX1
B-cell chronic lymphocytic leukemia
ARL11 ATM CCND1 IGHG1 IGHV3-21 POT1
TP53



Cerebroretinal vasculopathy
B-cell chronic lymphocytic leukemia

Synonym(s):
- CRV
- Grand-Kaine-Fulling syndrome
Synonym(s):
- B-CLL
- B-cell chronic lymphoid leukemia
- Lymphoplasmacytic leukemia
- Lymphoplasmacytoid immunocytoma
- Small lymphocytic lymphoma
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: D015451
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


B-cell chronic lymphocytic leukemia

(no data available)