{"orpha":289390,"name":"Primary Sjögren disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary SjD","Primary Sjögren syndrome"],"definition":"A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289390/","orphanet_url":"https://www.orpha.net/en/disease/detail/289390","names":{"fr":{"name":"Syndrome de Gougerot-Sjögren primitif","synonyms":["Syndrome de Gougerot-Sjögren primaire","Syndrome de Sjögren primaire","Syndrome de Sjögren primitif"],"definition":"Maladie systémique auto-immune rare, caractérisée par un dysfonctionnement des glandes exocrines, entraînant principalement une kératoconjonctivite sèche et une xérostomie, affectant également les glandes exocrines de la peau, ainsi que les voies respiratoires, urogénitales et digestives. Parmi les manifestations extra-glandulaires figurent l'arthrite, les maladies pulmonaires interstitielles, les maladies rénales et la neuropathie périphérique. Les malades présentent un risque sensiblement plus élevé de développer un lymphome non hodgkinien qui affecte les lymphocytes B, en particulier un lymphome de type MALT (lymphome du tissu lymphoïde associé aux muqueuses)."},"de":{"name":"Sjögren-Syndrom, primäres","synonyms":["pSS"],"definition":"Eine seltene systemische Autoimmunerkrankung, die durch eine Funktionsstörung der exokrinen Drüsen gekennzeichnet ist und vor allem zu Keratokonjunktivitis sicca und Xerostomie führt, aber auch die exokrinen Drüsen der Haut sowie des Atmungs-, Urogenital- und Verdauungstrakts betrifft. Zu den extraglandulären Manifestationen gehören Arthritis, interstitielle Lungenerkrankung, Nierenerkrankung und periphere Neuropathie. Die Krankheit geht mit einem deutlich erhöhten Risiko einher, ein B-Zell-Non-Hodgkin-Lymphom zu entwickeln, insbesondere ein MALT-(Mukosa-assoziiertes lymphatisches Gewebe)-Lymphom."},"es":{"name":"Enfermedad de Sjögren primaria","synonyms":["Síndrome de Sjögren primario"],"definition":"Es una enfermedad sistémica autoinmune poco frecuente caracterizada por una disfunción glandular exocrina que evoluciona predominantemente a queratoconjuntivitis seca y xerostomía, aunque también afecta a las glándulas exocrinas de la piel, así como a las de los tractos respiratorio, urogenital y digestivo. Las manifestaciones extraglandulares incluyen artritis, enfermedad pulmonar intersticial, enfermedad renal y neuropatía periférica. La enfermedad se acompaña de un riesgo sustancialmente más elevado de desarrollar linfoma no Hodgkin de células B, especialmente el linfoma MALT (tejido linfoide asociado a mucosas)."},"it":{"name":"Sindrome di Sjögren primitiva","synonyms":["Sindrome di Sjögren-Gougerot primitiva"],"definition":"Si tratta di una malattia autoimmune sistemica rara, caratterizzata dalla disfunzione delle ghiandole esocrine, che causa prevalentemente una cheratocongiuntivite secca e la xerostomia. La malattia interessa anche le ghiandole esocrine della cute, delle vie aeree, dell'apparato urogenitale e digerente. I segni clinici extra-ghiandolari comprendono l'artrite, la pneumopatia interstiziale, la nefropatia e la neuropatia periferica. I pazienti presentano un rischio significativo di sviluppare un linfoma non-Hodgkin a cellule B, in particolare il linfoma MALT (tessuto linfoide associato alle mucose)."},"nl":{"name":"Primaire ziekte van Sjögren","synonyms":["Primair SjD","Primair syndroom van Sjögren"],"definition":"Een zeldzame systemische auto-immuunziekte, gekarakteriseerd door disfunctie van exocriene klieren, wat voornamelijk leidt tot keratoconjunctivitis sicca en xerostomie, maar ook met aantasting van exocriene klieren van de huid, evenals respiratoir, urogenitaal, en spijsverteringsstelsel. Manifestaties buiten de klieren zijn onder meer artritis, interstitiële longziekte, nierziekte, en perifere neuropathie. De ziekte gaat gepaard met een aanzienlijk verhoogd risico op de ontwikkeling van B-cel non-Hodgkinlymfoom, en dan voornamelijk MALT (mucosa-geassocieerd lymfoïd weefsel)-lymfoom."},"pt":{"name":"Doença Sjögren primária","synonyms":["SjD primária","Síndrome Sjögren primária"]},"pl":{"name":"Pierwotny zespół Sjögrena","synonyms":["Pierwotny zespół Sjögrena-Gougerota"]},"cs":{"name":"Primární Sjögrenův syndrom","synonyms":["Primary Sjögren-Gougerot syndrome"]},"uk":{"name":"Первинний синдром Шегрена","synonyms":["Первинний синдром Шегрена-Гужеро"],"definition":"A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma."},"zh":{"name":"原发性干燥综合征","synonyms":["原发性干燥综合征"],"definition":"一种罕见的系统性自身免疫性疾病，以外分泌腺功能障碍为特征，主要导致干燥性角结膜炎和口腔干燥，也影响皮肤外分泌腺及呼吸、泌尿生殖和消化道。腺外表现包括关节炎、间质性肺病、肾脏疾病和周围神经病变。此疾病患B细胞非霍奇金淋巴瘤，尤其是MALT（黏膜相关淋巴组织）淋巴瘤的风险明显增高。"},"tr":{"name":"Primer Sjögren sendromu","synonyms":["Primer Sjögren-Gougerot sendromu"]}},"xrefs":[{"source":"OMIM","code":"270150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M35.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A43.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"899463360"},{"source":"MONDO","code":"0010030","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0151449","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10252","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93566,"name":"OBSOLETE: Pediatric Sjögren syndrome","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.343,"area":"France","status":"Validated","source":"23983119[PMID]_25387476[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":48.99,"area":"Europe","status":"Validated","source":"25387476[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":86.398,"area":"Greece","status":"Validated","source":"16332955[PMID]_25387476[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":49.745,"area":"Norway","status":"Validated","source":"21231797[PMID]_25387476[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":45.47,"area":"Denmark","status":"Validated","source":"17582741[PMID]_25387476[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.95,"area":"United States","status":"Validated","source":"11393497[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":37.15,"area":"Taiwan, Province of China","status":"Validated","source":"22899470[PMID]_23916348[PMID]_24938285[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":207.83,"area":"Turkey","status":"Validated","source":"18422594[PMID]_24938285[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.91,"area":"Italy","status":"Validated","source":"22396771[PMID]_24938285[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":165.98,"area":"Brazil","status":"Validated","source":"23588513[PMID]_24938285[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":9.5,"area":"Taiwan, Province of China","status":"Validated","source":"21239759[PMID]_23916348[PMID]_22899470[PMID]_24938285[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.3,"area":"Greece","status":"Validated","source":"16332955[PMID]_24938285[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"Slovenia","status":"Validated","source":"15194588[PMID]_24938285[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":6.92,"area":"Worldwide","status":"Validated","source":"24938285[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-19","source":"26093285[PMID]_28367079[PMID]_27444892[PMID]","terms":[{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033555","label":"Anti-Ro/SS-A antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034066","label":"Anti-carbonic anhydrase VI antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034069","label":"Anti-parotid secretory protein antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034064","label":"Anti-salivary protein antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011850","label":"Parotitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005195","label":"Polyarticular arthropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031950","label":"Usual interstitial pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031983","label":"Abnormal pulmonary thoracic imaging finding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410008","label":"Abnormality of the peripheral nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034093","label":"Anti-Ro52/TRIM21 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020151","label":"Anti-dsDNA antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034076","label":"Anti-ribosome Po antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012089","label":"Arteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002613","label":"Biliary cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200123","label":"Chronic hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100778","label":"Cryoglobulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005421","label":"Decreased circulating complement C3 concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045042","label":"Decreased circulating complement C4 concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012219","label":"Erythema nodosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031452","label":"Lichenoid skin lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006527","label":"Lymphocytic interstitial pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005523","label":"Lymphoproliferative disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031246","label":"Nonproductive cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001895","label":"Normochromic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100653","label":"Optic neuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031088","label":"Vaginal dryness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200120","label":"Chronic active hepatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100583","label":"Corneal perforation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032018","label":"Multiple mononeuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very rare (<4-1%)","criteria":null}]}}