{"orpha":425120,"name":"STING-associated vasculopathy with onset in infancy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SAVI"],"definition":"STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-425120/","orphanet_url":"https://www.orpha.net/en/disease/detail/425120","names":{"fr":{"name":"Vasculopathie de l'enfant associée à STING","synonyms":["SAVI"],"definition":"Un trouble génétique auto-inflammatoire rare et une interféronopathie de type 1 causée par l'activation constitutive de STING (Stimulateur des Gènes de l'Interféron). Il se caractérise par la survenue néonatale ou infantile d'une inflammation systémique et d'une vasculopathie touchant les petits vaisseaux, conduisant à des lésions cutanées, pulmonaires et articulaires sévères. Les patients présentent une fièvre intermittente de bas grade, une toux récurrente et un retard de croissance staturo-pondérale, associés à une maladie pulmonaire interstitielle progressive, une polyarthrite et des lésions squameuses violacées au niveau des doigts, des orteils, du nez, des joues et des oreilles (exacerbées lors d'une exposition au froid), qui progressent souvent vers une ulcération acrale chronique, une nécrose et une auto-amputation."},"de":{"name":"STING-assoziierte Vaskulopathie mit Beginn in der Kindheit","synonyms":["SAVI"],"definition":"Die STING-assoziierte Vaskulopathie mit Beginn in der Kindheit (SAVI) ist eine seltene, genetisch bedingte autoinflammatorische Erkrankung, die aufgrund einer konstitutiven STING-Aktivierung (<i>STimulator of INterferon Genes</i>) zu den Typ-1-Interferonopathien gezählt wird. Die Krankheit ist gekennzeichnet durch eine neonatale oder im Säuglingsalter einsetzende systemische Entzündung und eine Vaskulopathie der kleinen Gefäße, die zu schweren Haut-, Lungen- und Gelenkläsionen führt. Die Patienten präsentieren sich mit intermittierendem niedrigem Fieber, rezidivierendem Husten und Gedeihstörung in Verbindung mit fortschreitender interstitieller Lungenerkrankung, Polyarthritis und violetten schuppenden Läsionen an Fingern, Zehen, Nase, Wangen und Ohren (die sich durch Kälteeinwirkung verschlimmern), die oft zu chronischen Akrenulzerationen, Nekrosen und Autoamputation fortschreiten."},"es":{"name":"Vasculopatía con inicio en el lactante asociada a STING","synonyms":["SAVI"],"definition":"La vasculopatía asociada a STING de inicio en la infancia (SAVI, por sus siglas en inglés) es un trastorno genético autoinflamatorio poco frecuente. Se trata de una interferonopatía de tipo I debida a una activación constitutiva de STING (estimulador de genes de interferón), caracterizada por una inflamación sistémica de inicio neonatal o infantil y una vasculopatía de vasos pequeños que produce lesiones cutáneas, pulmonares y articulares graves. Los afectados presentan fiebre baja intermitente, tos recurrente y fallo de medro, en asociación con enfermedad pulmonar intersticial progresiva, poliartritis y lesiones descamativas violáceas en los dedos de las manos y de los pies, nariz, mejillas y orejas (que se ven agravados por la exposición al frío) que a menudo progresan a ulceración acral crónica, necrosis y autoamputación."},"it":{"name":"Vasculopatia associata a STING ad esordio infantile","synonyms":["SAVI"],"definition":"La vasculopatia associata a STING ad esordio infantile (SAVI) è una malattia autoinfiammatoria genetica rara, un'interferonopatia tipo I, causata dall'attivazione costitutiva di STING (STimolatore dei Geni INterferone). È caratterizzata da infiammazione sistemica ad esordio neonatale o infantile e vasculopatia dei piccoli vasi che esita in gravi lesioni cutanee, polmonari e articolari. I pazienti presentano febbre bassa intermittente, tosse ricorrente e ritardo della crescita, associati a pneumopatia interstiziale progressiva, poliartrite e lesioni violacee desquamate (aggravate dal freddo) sulle dita delle mani e dei piedi, sul naso, sulle guance e sulle orecchie, che spesso progrediscono verso l'ulcerazione acrale cronica, la necrosi e l'autoamputazione."},"nl":{"name":"STING-geassocieerde vasculopathie met aanvang in de zuigelingentijd","synonyms":["SAVI"],"definition":"STING-geassocieerde vasculopathie met aanvang in de zuigelingentijd (SAVI) is een zeldzame, genetische auto-inflammatoire aandoening, type I interferonopathie door constitutieve activatie van STING (STimulator van INterferon Genen), die wordt gekarakteriseerd door neonatale of infantiele aanvang van systemische inflammatie en vasculopathie van kleine bloedvaten, wat leidt tot ernstige letsels aan huid, longen en gewrichten. Patiënten vertonen intermitterende laaggradige koorts, terugkerende hoest en groeiachterstand, geassocieerd met progressieve interstitiële longziekte, polyartritis en violetkleurige schilferende letsels op de vingers, tenen, neus, wangen, en oren (die verergeren door blootstelling aan koude) die vaak evolueren naar chronische acrale ulceratie, necrose en auto-amputatie."},"pt":{"name":"Vasculopatia STING-associada com início na infância","synonyms":["SAVI"]},"pl":{"name":"Waskulopatia zależna od STING o początku w wieku niemowlęcym","synonyms":["SAVI"]},"cs":{"name":"STING-asociovaná vaskulopatie s nástupem v dětství","synonyms":["SAVI"]},"uk":{"name":"STING-асоційована васкулопатія з початком у дитячому віці","synonyms":["SAVI"],"definition":"STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation."},"zh":{"name":"STING相关的婴儿期血管病","synonyms":["SAVI"],"definition":"婴儿期发病STING相关血管病（SAVI）是一种罕见的遗传性自身免疫性疾病-I型干扰素病，由于干扰素基因刺激因子（STING）激活引起的，新生儿或婴儿期发病的全身性炎症和小血管病为特征，可导致严重的皮肤损伤，肺部和关节病变。患者表现为间歇性低热、反复咳嗽和发育不良，并伴有进行性间质性肺病、多发性关节炎和手指、脚趾、鼻子、脸颊和耳朵上的紫色鳞屑病变（寒冷暴露会加剧这些病变），常发展为慢性肢端溃疡，坏死和肢体自行离断。"},"tr":{"name":"Süt çocuğu başlangıçlı STING-ilişkili vaskülopati","synonyms":["SAVI"]}},"xrefs":[{"source":"OMIM","code":"615934","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A44.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014722","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12357","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088833","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":156146,"name":"Predominantly small-vessel vasculitis","classifications":[196,198]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":233655,"name":"Rare genetic vascular disease","classifications":[156]},{"orpha":280369,"name":"Rare pediatric vasculitis","classifications":[231]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"STING1","name":"stimulator of interferon response cGAMP interactor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25029335[PMID]","hgnc":"27962","ensembl":"ENSG00000184584","omim":"612374","loci":["5q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25401470[PMID]_25029335[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"25401470[PMID]_25029335[PMID]"}],"phenotypes":null}