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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
3 associated genes
7 signs/symptoms
Cerebroretinal vasculopathy
Mantle cell lymphoma

TREX1 ATM
CCND1
IGH


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Cerebroretinal vasculopathy
TREX1
Mantle cell lymphoma
ATM CCND1 IGH



Cerebroretinal vasculopathy
Mantle cell lymphoma

Synonym(s):
- CRV
- Grand-Kaine-Fulling syndrome

Synonym(s):
- LCM
- MCL
- Mantle zone 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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: multigenic/multifactorial

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D020522

Cerebroretinal vasculopathy
Mantle cell lymphoma

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


Very frequent
- Hematologic / blood / lymphatic cancer
- Lymphadenopathy / polyadenopathies

Frequent
- Anorexia
- Asthenia / fatigue / weakness
- Bone marrow / medullar infiltration
- Splenomegaly
- Weight loss / loss of appetite / break in weight curve / general health alteration