{"Name":"Familial retinal arterial macroaneurysm","DiseaseID__c":"GARD:0012779","id":12779,"encodedName":"familial-retinal-arterial-macroaneurysm","IsDeleted":false,"Disease_Name_Full__c":"Familial retinal arterial macroaneurysm","Xref_IDs__c":"764452004; C3280205; MEDGEN:481835; MONDO:0013640; OMIM:614224; ORPHA:284247","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:284247","Disease_Description__c":"Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.","GARD_Name__c":"Familial retinal arterial macroaneurysm","GARD_Synonym__c":"fram; fram - familial retinal arterial macroaneurysm; ramsvps - retinal arterial macroaneurysm with supravalvular pulmonic stenosis; retinal arterial macroaneurysm and supravalvular pulmonic stenosis; retinal arterial macroaneurysm with supravalvular pulmonic stenosis","Curated_Disease_Description_Source__c":"ORPHA:284247","Curated_Disease_Description__c":"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries gradually develop multiple small bulges called beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) occur. These macroaneurysms can tear (rupture), leading to bleeding that can spread into other areas of the eye and cause vision loss. People with RAMSVPS also have a heart condition called supravalvular pulmonic stenosis. Pulmonic stenosis is a narrowing that affects the pulmonic valve between the heart and the lungs. The term 'supravalvular' means that the narrowing occurs just above the valve, in a blood vessel called the pulmonary artery. Supravalvular pulmonic stenosis impairs blood flow into the lungs, where blood normally picks up oxygen for distribution to cells and tissues throughout the body. As a result, less oxygen is carried through the bloodstream, leading to signs and symptoms that include shortness of breath; a rapid heartbeat; fatigue; and swelling in the face, feet, or abdomen.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:284247","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013640","ORPHANET_ID__c":"ORPHA:284247","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Macroaneurisma arterial retiniano familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"macroaneurisma arterial retiniano familiar","Spanish_GARD_Synonym__c":"fram; macroaneurisma arterial retiniano y estenosis pulmonar supravalvular","Category_Linearization__c":"ORPHA:97966","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":"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries gradually develop multiple small bulges called beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) occur. These macroaneurysms can tear (rupture), leading to bleeding that can spread into other areas of the eye and cause vision loss. People with RAMSVPS also have a heart condition called supravalvular pulmonic stenosis. Pulmonic stenosis is a narrowing that affects the pulmonic valve between the heart and the lungs. The term 'supravalvular' means that the narrowing occurs just above the valve, in a blood vessel called the pulmonary artery. Supravalvular pulmonic stenosis impairs blood flow into the lungs, where blood normally picks up oxygen for distribution to cells and tissues throughout the body. As a result, less oxygen is carried through the bloodstream, leading to signs and symptoms that include shortness of breath; a rapid heartbeat; fatigue; and swelling in the face, feet, or abdomen.","Curated_Disease_Description_Source__c":"ORPHA:284247","GARD_Synonym__c":"fram; fram - familial retinal arterial macroaneurysm; ramsvps - retinal arterial macroaneurysm with supravalvular pulmonic stenosis; retinal arterial macroaneurysm and supravalvular pulmonic stenosis; retinal arterial macroaneurysm with supravalvular pulmonic stenosis","Name":"Familial retinal arterial macroaneurysm","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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"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:284247"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3280205"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012779","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280205","Source__c":"C3280205","Xref__c":"C3280205"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=481835","Source__c":"C3280205","Xref__c":"MEDGEN:481835"},{"URL__c":"https://www.omim.org/entry/614224","Source__c":"C3280205; MONDO:0013640; ORPHA:284247","Xref__c":"OMIM:614224"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764452004","Source__c":"C3280205; MONDO:0013640","Xref__c":"764452004"},{"URL__c":"https://www.orpha.net/en/disease/detail/284247","Source__c":"C3280205; MONDO:0013640; ORPHA:284247","Xref__c":"ORPHA:284247"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013640","Source__c":"GARD:0012779","Xref__c":"MONDO:0013640"},{"URL__c":"https://medlineplus.gov/genetics/condition/retinal-arterial-macroaneurysm-with-supravalvular-pulmonic-stenosis","Source__c":"GARD:0012779","Xref__c":"https://medlineplus.gov/genetics/condition/retinal-arterial-macroaneurysm-with-supravalvular-pulmonic-stenosis"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IGFBP7","GHR_URL__c":"https://medlineplus.gov/genetics/gene/igfbp7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614224","Feature__r":{"HPO_Description__c":"A type of retinal detachment such that fluid is present in the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. It is not associated with a full-thickness break nor a tractional component. Due to breakdown of outer blood-retina barrier or increased exudation from abnormal vasculature or defective outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012231","HPO_Synonym__c":"Exudative retinal detachment; Non-rhegmatogenous retinal detachment","HPO_Name__c":"Serous retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614224","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the temporal retina and may be hemorrhagic or exudative.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025355","HPO_Name__c":"Retinal arteriolar macroaneurysms","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614224","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Neurology","Ophthalmology","Retinal","Vascular Neurology","Vascular Medicine","Pediatrics"],"Account":["Retinal"]},"synonyms":["fram"," fram - familial retinal arterial macroaneurysm"," ramsvps - retinal arterial macroaneurysm with supravalvular pulmonic stenosis"," retinal arterial macroaneurysm and supravalvular pulmonic stenosis"," retinal arterial macroaneurysm with supravalvular pulmonic stenosis"]}