Details of Disease

General Information of Disease (ID: DISI621C)

Disease Name Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Synonyms
HVR; autosomal dominant retinal vasculopathy with cerebral leukodystrophy; ADRVCL; CRV; retinal vasculopathy with cerebral leukodystrophy; grand-Kaine-fulling syndrome; retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; grand Kaine fulling syndrome; cerebroretinal vasculopathy, hereditary; cerebroretinal vasculopathy; vasculopathy, retinal, with cerebral leukodystrophy; RVCL; vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations; hereditary vascular retinopathy; retinal vasculopathy and cerebral leukoencephalopathy; RVCL-S
Definition
An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.|Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1
Disease Hierarchy
DISCVVSA: TREX1-related type 1 interferonopathy
DISGGL77: Inherited retinal dystrophy
DISNEEBJ: Retinal vascular disorder
DISKP5TO: Type 1 interferonopathy of childhood
DISI621C: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Disease Identifiers
MONDO ID
MONDO_0008641
MESH ID
C566007
UMLS CUI
C1860518
OMIM ID
192315
MedGen ID
348124
Orphanet ID
247691
SNOMED CT ID
783787000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATRIP OT78O9LF Strong CausalMutation [1]
TREX1 OTQG7K12 Strong Autosomal dominant [2]
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References

1 Inflammatory myopathy in a patient with Aicardi-Goutires syndrome.Eur J Med Genet. 2017 Mar;60(3):154-158. doi: 10.1016/j.ejmg.2016.12.004. Epub 2017 Jan 9.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.