{"Name":"Retinal arterial tortuosity","DiseaseID__c":"GARD:0016693","id":16693,"encodedName":"retinal-arterial-tortuosity","IsDeleted":false,"Disease_Name_Full__c":"Retinal arterial tortuosity","Xref_IDs__c":"247123003; C0423401; DOID:0111547; HP:0000631; MEDGEN:140840; MONDO:0008373; OMIM:180000; ORPHA:75326","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:75326","Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.","GARD_Name__c":"Retinal arterial tortuosity","GARD_Synonym__c":"familial isolated retinal arterial tortuosity; retinal arterial tortuosity (disease); retinal arteries, tortuosity of; retinal arteriolar tortuosity; retinal artery tortuousity; retinal haemorrhage with vascular tortuosity; retinal hemorrhage with vascular tortuosity; tortuosity of retinal arteries","Curated_Disease_Description_Source__c":"ORPHA:75326","Curated_Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:75326","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008373","ORPHANET_ID__c":"ORPHA:75326","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tortuosidad arterial retiniana familiar aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"tortuosidad arterial retiniana familiar aislada","Spanish_GARD_Synonym__c":"hemorragia retiniana con tortuosidad vascular; tortuosidad arteriolar retiniana; tortuosidad arteriolar retiniana familiar; tortuosidad de las arterias retinianas","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.","Curated_Disease_Description_Source__c":"ORPHA:75326","GARD_Synonym__c":"familial isolated retinal arterial tortuosity; retinal arterial tortuosity (disease); retinal arteries, tortuosity of; retinal arteriolar tortuosity; retinal artery tortuousity; retinal haemorrhage with vascular tortuosity; retinal hemorrhage with vascular tortuosity; tortuosity of retinal arteries","Name":"Retinal arterial tortuosity","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:75326"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/180000","Source__c":"C0423401; MONDO:0008373; ORPHA:75326","Xref__c":"OMIM:180000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111547","Source__c":"MONDO:0008373","Xref__c":"DOID:0111547"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140840","Source__c":"C0423401","Xref__c":"MEDGEN:140840"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0423401","Source__c":"C0423401","Xref__c":"C0423401"},{"URL__c":"https://www.orpha.net/en/disease/detail/75326","Source__c":"C0423401; MONDO:0008373","Xref__c":"ORPHA:75326"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=247123003","Source__c":"C0423401","Xref__c":"247123003"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000631","Source__c":"C0423401","Xref__c":"HP:0000631"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008373","Source__c":"GARD:0016693","Xref__c":"MONDO:0008373"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK7046","Xref__c":"NBK7046"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL4A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col4a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:180000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an increased number of twists and turns of the retinal arterioles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001136","HPO_Synonym__c":"Tortuous retinal arterioles","HPO_Name__c":"Retinal arteriolar tortuosity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000573","HPO_Synonym__c":"Retinal bleeding; Retinal hemorrhages","HPO_Name__c":"Retinal hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Vascular Medicine","Pediatrics"]},"synonyms":["familial isolated retinal arterial tortuosity"," retinal arterial tortuosity (disease)"," retinal arteries, tortuosity of"," retinal arteriolar tortuosity"," retinal artery tortuousity"," retinal haemorrhage with vascular tortuosity"," retinal hemorrhage with vascular tortuosity"," tortuosity of retinal arteries"]}