{"orpha":820,"name":"Sneddon syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ehrmann-Sneddon syndrome","Livedo racemosa-cerebrovascular accident syndrome","Livedo reticularis-cerebrovascular accident syndrome"],"definition":"Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-820/","orphanet_url":"https://www.orpha.net/en/disease/detail/820","names":{"fr":{"name":"Syndrome de Sneddon","synonyms":["Syndrome d'Ehrmann-Sneddon","Syndrome de livedo racemosa-accidents vasculaires cérébraux","Syndrome de livedo reticularis-accidents vasculaires cérébraux","Syndrome de livédo ramifié-accidents vasculaires cérébraux","Syndrome de livédo réticulaire-accidents vasculaires cérébraux"],"definition":"Le syndrome de Sneddon (SS) est une vasculopathie thrombotique non inflammatoire rare, caractérisée par l'association d'une maladie cérébro-vasculaire et d'un livedo racemosa."},"de":{"name":"Sneddon-Syndrom","synonyms":["Ehrmann-Sneddon-Syndrom","Livedo racemosa generalisata mit zerebrovaskulären Ereignissen","Livedo reticularis - zerebrovaskuläre Störungen"],"definition":"Das Sneddon-Syndrom (SS) ist eine seltene nicht-entzündliche thrombotische Vaskulopathie, die durch die Kombination aus einer zerebrovaskulären Krankheit und einer Livedo racemosa gekennzeichnet ist."},"es":{"name":"Síndrome de Sneddon","synonyms":["Síndrome de Ehrmann-Sneddon","Síndrome de livedo racemosa-accidente cerebrovascular","Síndrome de livedo reticularis-accidente cerebrovascular"],"definition":"El síndrome de Sneddon (SS) es una rara vasculopatía trombótica no inflamatoria caracterizada por una combinación de enfermedad cerebrovascular y livedo en racimos."},"it":{"name":"Sindrome di Sneddon","synonyms":["Livedo racemosa e accidenti cerebrovascolari","Livedo reticularis e accidenti cerebrovascolari","Sindrome di Ehrmann-Sneddon"],"definition":"La sindrome di Sneddon (SS) è una vasculopatia trombotica non infiammatoria rara, che associa una malattia cerebrovascolare e la livedo racemosa."},"nl":{"name":"Syndroom van Sneddon","synonyms":["Livedo racemosa - cerebrovasculair accident-syndroom","Livedo reticularis - cerebrovasculair accident-syndroom","Syndroom van Ehrmann-Sneddon"],"definition":"Syndroom van Sneddon (SS) is een zeldzame niet-inflammatoire trombotische vasculopathie die wordt gekarakteriseerd door de combinatie van cerebrovasculaire ziekte met livedo racemosa."},"pt":{"name":"Síndrome Sneddon","synonyms":["Síndrome Ehrmann-Sneddon","Síndrome de livedo racemosa-acidente vascular cerebral","Síndrome de livedo reticular-acidente vascular cerebral"]},"pl":{"name":"Zespół Sneddona","synonyms":["Livedo racemosa and cerebrovascular accidents","Siność siatkowata i epizody mózgowo-naczyniowe","Zespół Ehrmanna i Sneddona"],"definition":"Zespół Sneddona (SS) jest rzadką, niezapalną zakrzepową chorobą naczyń, charakteryzującą się występowaniem objawów mózgowo-naczyniowych i siności groniastej."},"cs":{"name":"Sneddonův syndrom","synonyms":["Livedo racemosa a cerebrovaskulární poruchy","Livedo reticularis a cerebrovaskulární poruchy","Ehrmannův-Sneddonův syndrom","Ehrmann-Sneddonův syndrom"]},"uk":{"name":"Синдром Снеддона","synonyms":["Синдром Ермана-Снеддона","Синдром Ліведо-Расемоза - порушення мозкового кровообігу","Синдром ретикулярної амілоїдозу - порушення мозкового кровообігу"],"definition":"Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa."},"zh":{"name":"Sneddon综合征","synonyms":["网状青斑-脑血管意外综合征"]},"tr":{"name":"Sneddon sendromu","synonyms":["Ehrmann-Sneddon sendromu","Livedo racemosa-serebrovasküler kaza sendromu","Livedo retikülaris-serebrovasküler kaza sendromu"]}},"xrefs":[{"source":"OMIM","code":"182410","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A44.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1474816492"},{"source":"MONDO","code":"0008436","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018860","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0282492","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7664","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":496924,"name":"Non-inflammatory vasculopathy","classifications":[198]},{"orpha":90077,"name":"Other acquired skin disease","classifications":[187]},{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":233655,"name":"Rare genetic vascular disease","classifications":[156]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[{"symbol":"ADA2","name":"adenosine deaminase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25075847[PMID]_25551694[PMID]","hgnc":"1839","ensembl":"ENSG00000093072","omim":"607575","loci":["22q11.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-01","source":"25551694[PMID]_34740467[PMID]_31160219[PMID]","terms":[{"hpo":"HP:0033260","label":"Livedo racemosa","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001727","label":"Thromboembolic stroke","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025722","label":"Cerebral infarct","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031987","label":"Diminished ability to concentrate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011714","label":"Libman-Sacks lesions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025342","label":"Central retinal artery occlusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020166","label":"Central retinal vein occlusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009710","label":"Chilblains","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033126","label":"Cutaneous necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030773","label":"Internuclear ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000139","label":"Splinter hemorrhages","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5200330","label":"Suicide behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030746","label":"Intraventricular hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Very rare (<4-1%)","criteria":null}]}}