{"orpha":449563,"name":"IgG4-related ophthalmic disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-449563/","orphanet_url":"https://www.orpha.net/en/disease/detail/449563","names":{"fr":{"name":"Maladie ophtalmologique associée à IgG4","definition":"Maladie ophtalmologique inflammatoire rare caractérisée par une infiltration plasmocytaire et lymphocytaire IgG4 positive, ainsi que par une fibrose collagénique des tissus affectés et par un taux sérique élevé d'IgG4. La présentation clinique comprend une masse ou une tuméfaction des structures touchées, généralement les glandes lacrymales et le canal lacrymal, le nerf infra-orbitaire et le nerf supra-orbitaire, les muscles extra-oculaires et les tissus mous de l'orbite. Une atteinte systémique est fréquemment observée."},"de":{"name":"IgG4-assoziierte ophthalmologische Manifestation","synonyms":["Augenkrankheit, IgG4-assoziierte"],"definition":"Eine seltene entzündliche Augenerkrankung, die durch eine IgG4-immunopositive Lymphozyten- und Plasmozyteninfiltration sowie eine kollagene Fibrose des betroffenen Gewebes und erhöhte IgG4-Serumspiegel gekennzeichnet ist. Die klinische Präsentation umfasst Massenläsionen oder Schwellungen der betroffenen Strukturen, die häufig die Tränendrüse und den Tränenkanal, die infraorbitalen und supraorbitalen Nerven, die extraokularen Muskeln und die orbitalen Weichteile betreffen. Eine systemische Beteiligung ist häufig."},"es":{"name":"Enfermedad oftalmológica asociada a IgG4","definition":"Es una enfermedad ocular inflamatoria poco frecuente caracterizada por linfocitos IgG4 - inmunopositivos e infiltrado de plasmocitos, y por fibrosis colagenosa en el tejido afectado y niveles séricos de IgG4 elevados. La presentación clínica incluye lesión masiva o hinchazón de las estructuras dañadas, afectando por lo general a la glándula y al conducto lagrimal, nervios infra-y supraorbitario, músculos extraoculares y tejidos blandos orbitarios. La afectación sistémica es común."},"it":{"name":"Malattia oftalmica correlata a IgG4","definition":"È una malattia oculare infiammatoria rara, caratterizzata da infiltrazione di linfociti e plasmacellule IgG4-immunopositivi, fibrosi collagenosa del tessuto interessato e livelli elevati di IgG4 nel siero. I segni clinici comprendono una lesione massiva o la tumefazione delle strutture interessate (di solito le ghiandole e i dotti lacrimali, i nervi infraorbitali e sopraorbitali, i muscoli extraoculari e i tessuti molli orbitali). Spesso i pazienti presentano un interessamento sistemico."},"nl":{"name":"IgG4-gerelateerde oftalmische ziekte","definition":"Een zeldzame, inflammatoire oogziekte die gekarakteriseerd wordt door infiltratie met IgG4-immuunpositieve lymfocyten en plasmocyten alsook collageneuze fibrose van het aangetaste weefsel, en verhoogde IgG4-gehaltes in het serum. Het klinisch beeld omvat massale beschadiging of zwelling van de aangetaste structuren, voornamelijk met betrokkenheid van traanklieren en -kanalen, infraorbitale en supraorbitale zenuwen, extraoculaire spieren en orbitale weke delen. Een systemische betrokkenheid is gangbaar."},"pt":{"name":"Doença oftalmológica IgG4-relacionada"},"pl":{"name":"Choroba oftalmologiczna związane z IgG4"},"cs":{"name":"IgG4 asociované postižení očí"},"uk":{"name":"Офтальмологічні захворювання, повязані з IgG4","definition":"A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common."},"zh":{"name":"IgG4相关的眼科疾病","definition":"一种罕见的炎症性眼病，其特征在于IgG4免疫阳性淋巴细胞，受影响组织的浆细胞浸润和胶原纤维化，以及IgG4的血清水平升高。临床表现包括受累结构的肿块病变或肿胀，通常累及泪腺和导管，眶下和眶上神经，眼外肌和眶软组织。一般累及全身。"},"tr":{"name":"IgG4-ilişkili oftalmik hastalık"}},"xrefs":[{"source":"ICD-10","code":"H05.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1032400656"},{"source":"MONDO","code":"0018675","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569009","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":596448,"name":"IgG4-related systemic disease","classifications":[196]},{"orpha":519329,"name":"Rare disorder involving multiple structures of the eye","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24513111[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-26","source":"25392273[PMID]_25564258[PMID]_28272212[PMID]","terms":[{"hpo":"HP:0010824","label":"Abnormal fifth cranial nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011482","label":"Abnormal lacrimal gland morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:3000061","label":"Abnormality of infra-orbital nerve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000315","label":"Abnormality of the orbital region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000620","label":"Dacryocystitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007734","label":"Enlarged lacrimal glands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032300","label":"Increased circulating IgG4 level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031281","label":"Sialadenitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000030","label":"Abnormal morphology of bony orbit of skull","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030669","label":"Abnormal ocular adnexa morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008049","label":"Abnormality of the extraocular muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009831","label":"Mononeuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005200","label":"Retroperitoneal fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011747","label":"Abnormality of the anterior pituitary","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0430022","label":"Abnormality of the sphenoid sinus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012539","label":"Non-Hodgkin lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100796","label":"Orchitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000024","label":"Prostatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031912","label":"Trigeminal anesthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100661","label":"Trigeminal neuralgia","frequency":"Very rare (<4-1%)","criteria":null}]}}