Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations (RVCLS)

Alias:

Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

Vasculopathy, Retinal, with Cerebral Leukodystrophy

Crv

Retinal Vasculopathy with Cerebral Leukodystrophy

Cerebroretinal Vasculopathy

Rvcl-S

Rvcl

Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena

Retinal Vasculopathy and Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Rvcls

Herns

Vascular Retinopathy with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena

Hereditary Endotheliopathy with Retinopathy-Nephropathy-Stroke

Vasculopathy, Retinal, with Cerebral Leukodystrophy, Formerly

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Cerebroretinal Vasculopathy, Hereditary

Hereditary Cerebroretinal Vasculopathy

Hereditary Systemic Angiopathy

Hsa

Hvr

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations, also known as retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, is related to vascular dementia and aicardi-goutieres syndrome 1, and has symptoms including hemiparesis and seizures. An important gene associated with Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Cytosolic sensors of pathogen-associated DNA and Epithelial to mesenchymal transition in colorectal cancer. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are abnormal retinal vascular morphology and abnormal cerebral white matter morphology

Related ID：

MALACARDS：VSC063

OMIM：192315

MESH：C566007

ICD11：554838792