{"orpha":619367,"name":"SAMD9L-associated autoinflammatory syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SAMD9L-SAAD"],"definition":"A rare autoinflammatory syndrome characterized by nodular panniculitis, lipoatrophy, severe early-onset interstitial lung disease, and basal ganglia calcifications. Most patients have progressive isolated B-cell and natural killer cell cytopenias. Respiratory failure was also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-619367/","orphanet_url":"https://www.orpha.net/en/disease/detail/619367","names":{"fr":{"name":"Syndrome auto-inflammatoire associé à SAMD9L","definition":"Syndrome auto-inflammatoire rare, caractérisé par une panniculite nodulaire, une lipoatrophie, une pneumopathie interstitielle sévère à début précoce et des calcifications des noyaux gris centraux. La plupart des patients présentent des cytopénies isolées progressives des lymphocytes&nbsp;B et des cellules tueuses naturelles. Une insuffisance respiratoire a également été rapportée."},"de":{"name":"SAMD9L-assoziiertes autoinflammatorisches Syndrom","synonyms":["SAMD9L-SAAD"],"definition":"Ein seltenes autoinflammatorisches Syndrom, das durch noduläre Pannikulitis, Lipoatrophie, schwere, früh einsetzende interstitielle Lungenerkrankung und Basalganglienverkalkungen gekennzeichnet ist. Die meisten Patienten weisen fortschreitende isolierte B-Zellen- und natürliche Killerzellen-Zytopenien auf. Es wurde auch über Atemwegsversagen berichtet."},"es":{"name":"Síndrome autoinflamatorio asociado a SAMD9L","synonyms":["SAMD9L-SAAD"],"definition":"Es un síndrome autoinflamatorio poco frecuente caracterizado por paniculitis nodular, lipoatrofia, enfermedad pulmonar intersticial grave de inicio precoz y calcificación de los ganglios basales. La mayoría de pacientes presenta citopenias progresivas aisladas de células B y linfocitos citolíticos naturales (NK). También se ha descrito insuficiencia respiratoria."},"it":{"name":"Sindrome autoinfiammatoria correlata a SAMD9L","synonyms":["SAMD9L-SAAD"]},"nl":{"name":"SAMD9L-geassocieerd auto-inflammatoir syndroom","synonyms":["SAMD9L-SAAD"],"definition":"Een zeldzaam auto-inflammatoir syndroom, gekenmerkt door nodulaire panniculitis, lipoatrofie, ernstige en vroeg optredende interstitiële longziekte, en verkalkingen van basale ganglia. De meeste patiënten hebben progressieve geïsoleerde cytopenieën van B-cellen en 'natural killer'-cellen. Respiratoir falen werd ook gerapporteerd."},"pt":{"name":"Síndrome autoinflamatória SAMD9L-associada","synonyms":["SAMD9L-SAAD"]},"pl":{"name":"Zespół autozapalny związany z SAMD9L","synonyms":["SAMD9L-SAAD"],"definition":"Rzadki zespół autozapalny charakteryzujący się guzkowym zapaleniem tkanki podskórnej, lipoatrofią, ciężką śródmiąższową chorobą płuc o wczesnym początku oraz zwapnieniami jąder podstawy. U większości chorych obserwuje się postępującą izolowaną cytopenię komórek B i komórek NK. Zgłaszano również niewydolność oddechową."},"cs":{"name":"Autoinflamatorní syndrom spojený se SAMD9L","synonyms":["SAMD9L-SAAD"]},"uk":{"name":"SAMD9L-асоційований аутозапальний синдром","synonyms":["SAMD9L-SAAD"]}},"xrefs":[{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0850066","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680414","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":264699,"name":"Secondary interstitial lung disease specific to childhood associated with a systemic disease","classifications":[184,233]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"SAMD9L","name":"sterile alpha motif domain containing 9 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31874111[PMID]","hgnc":"1349","ensembl":"ENSG00000177409","omim":"611170","loci":["7q21.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"31874111[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31874111[PMID]_ORPHANET"}],"phenotypes":null}