Details of Disease

General Information of Disease (ID: DISYUV7F)

Disease Name Retinal arterial tortuosity
Synonyms
retinal arteries, tortuosity OF; RATOR; retinal arteriolar tortuosity; retinal haemorrhage with vascular tortuosity; retinal hemorrhage with vascular tortuosity; tortuosity of retinal arteries; retinal arterial tortuosity; retinal arterial tortuosity (disease)
Disease Hierarchy
DIS1NE6J: COL4A1-related disorder
DISLG4XS: Arterial disorder
DISYUV7F: Retinal arterial tortuosity
Disease Identifiers
MONDO ID
MONDO_0008373
UMLS CUI
C0423401
OMIM ID
180000
MedGen ID
140840
HPO ID
HP:0000631
Orphanet ID
75326
SNOMED CT ID
247123003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL4A1 OTL6D1YE Supportive Autosomal dominant [1]
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References

1 Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. Graefes Arch Clin Exp Ophthalmol. 2014 Nov;252(11):1789-94. doi: 10.1007/s00417-014-2800-6. Epub 2014 Sep 17.