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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
4 associated genes
No signs/symptoms info
Hereditary vascular retinopathy
Constitutional mismatch repair deficiency syndrome

TREX1 MLH1
MSH2
MSH6
PMS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TREX1
(0.62)
MSH2



Citations in the biomedical literature:


Hereditary vascular retinopathy
TREX1
Constitutional mismatch repair deficiency syndrome
MLH1 MSH2 MSH6 PMS2



Hereditary vascular retinopathy
Constitutional mismatch repair deficiency syndrome

Synonym(s):
- HVR
- Hereditary vascular retinopathy - Raynaud phenomenon - migraine

Synonym(s):
- CMMR-D syndrome

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

Hereditary vascular retinopathy

Very frequent
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Visual loss / blindness / amblyopia



Constitutional mismatch repair deficiency syndrome

(no data available)