{"Name":"IgG4-related dacryoadenitis and sialadenitis","DiseaseID__c":"GARD:0007043","id":7043,"encodedName":"igg4-related-dacryoadenitis-and-sialadenitis","IsDeleted":false,"Disease_Name_Full__c":"IgG4-related dacryoadenitis and sialadenitis","Xref_IDs__c":"7826003; C0026103; C34819; D008882; DOID:12900; MEDGEN:6399; MONDO:0019191; ORPHA:79078","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019191","Disease_Description__c":"IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).","GARD_Name__c":"IgG4-related dacryoadenitis and sialadenitis","GARD_Synonym__c":"chronic dacryoadenitis and sialadenitis; mikulicz disease; mikulicz syndrome; mikulicz' disease; mikulicz's disease; mikulicz's syndrome; non-sjogren syndrome; salivary gland hyperplasia","Curated_Disease_Description_Source__c":"GARD:0007043","Curated_Disease_Description__c":"IgG4-related dacryoadenitis and sialoadenitis (formerly called Mikulicz disease) is an IgG4-related disease characterized by inflammation of the lacrimal glands (which produce tears), parotid glands, and submandibular glands (two of the major salivary glands). In some cases, it also affects other glands or organs. The condition is usually painless, mainly causing mouth and eye dryness, and swelling over the affected glands. When other organs are affected, it can be accompanied by complications such as autoimmune pancreatitis, retroperitoneal fibrosis, and tubulointerstitial nephritis. The underlying cause of IgG4-related disease is still not known.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:79078","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019191","ORPHANET_ID__c":"ORPHA:79078","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dacrioadenitis y sialoadenitis asociada a igg4","Spanish_Description_Source__c":"ORPHA:79078","Spanish_Description__c":"La enfermedad de Mikulicz es una enfermedad esclerosante ligada a la IgG4 (ver este término) caracterizada por un agrandamiento bilateral persistente, normalmente indoloro, de las glándulas lagrimal, parótida y submandibular, asociado con niveles elevados de inmunoglobulina (Ig) G4 sérica y con infiltración de linfocitos y plasmocitos IgG4-positivos. Predominantemente causa sequedad en boca y ojos, pero también puede afectar a otros órganos como los pulmones, hígado y riñones, y estar acompañada por complicaciones como pancreatitis autoinmune (AIP), fibrosis retroperitoneal y nefritis tubulointersticial (ver estos términos).","Spanish_Disease_Name__c":"dacrioadenitis y sialoadenitis asociada a igg4","Spanish_GARD_Synonym__c":"dacrioadenitis y sialoadenitis crónicas; enfermedad de mikulicz","Category_Linearization__c":"ORPHA:98023","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"IgG4-related dacryoadenitis and sialoadenitis (formerly called Mikulicz disease) is an IgG4-related disease characterized by inflammation of the lacrimal glands (which produce tears), parotid glands, and submandibular glands (two of the major salivary glands). In some cases, it also affects other glands or organs. The condition is usually painless, mainly causing mouth and eye dryness, and swelling over the affected glands. When other organs are affected, it can be accompanied by complications such as autoimmune pancreatitis, retroperitoneal fibrosis, and tubulointerstitial nephritis. The underlying cause of IgG4-related disease is still not known.","Curated_Disease_Description_Source__c":"GARD:0007043","GARD_Synonym__c":"chronic dacryoadenitis and sialadenitis; mikulicz disease; mikulicz syndrome; mikulicz' disease; mikulicz's disease; mikulicz's syndrome; non-sjogren syndrome; salivary gland hyperplasia","Name":"IgG4-related dacryoadenitis and sialadenitis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:79078"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/79078","Source__c":"C0026103; MONDO:0019191; ORPHA:79078","Xref__c":"ORPHA:79078"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34819","Source__c":"C0026103; MONDO:0019191","Xref__c":"C34819"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6399","Source__c":"C0026103","Xref__c":"MEDGEN:6399"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008882","Source__c":"C0026103; MONDO:0019191","Xref__c":"D008882"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0026103","Source__c":"C0026103","Xref__c":"C0026103"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=7826003","Source__c":"C0026103; MONDO:0019191","Xref__c":"7826003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12900","Source__c":"MONDO:0019191","Xref__c":"DOID:12900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019191","Source__c":"GARD:0007043","Xref__c":"MONDO:0019191"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A general term for inflammation of the muscles without respect to the underlying cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100614","HPO_Synonym__c":"Muscle inflammation","HPO_Name__c":"Myositis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005994","HPO_Name__c":"Nodular goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of an extraocular muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008049","HPO_Name__c":"Abnormality of the extraocular muscles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dryness of the mouth due to salivary gland dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000217","HPO_Synonym__c":"Dry mouth; Dry mouth syndrome; Reduced salivation","HPO_Name__c":"Xerostomia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the parotid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011801","HPO_Synonym__c":"Hyperplasia of parotid gland; Increased size of parotid gland","HPO_Name__c":"Enlargement of parotid gland","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007807","HPO_Name__c":"Optic nerve compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011481","HPO_Synonym__c":"Abnormality of the lacrimal canaliculus; Abnormality of the lacrimal duct","HPO_Name__c":"Abnormal lacrimal duct morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increase in periorbital soft tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000629","HPO_Synonym__c":"Periorbital puffiness; Periorbital swelling; Puffiness around eye; Puffy eyes; Swelling around the eyes","HPO_Name__c":"Periorbital fullness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000587","HPO_Synonym__c":"Abnormality of the optic nerve; optic nerve abnormalities; Optic nerve issue","HPO_Name__c":"Abnormal optic nerve morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100646","HPO_Synonym__c":"Thyroid gland inflammation","HPO_Name__c":"Thyroiditis","Feature_System__c":"Endocrine System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000282","HPO_Synonym__c":"Facial puffiness; Facial swelling; Swelling of the face","HPO_Name__c":"Facial edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin A in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003261","HPO_Synonym__c":"Elevated IgA; Elevated serum IgA; IgA hypergammaglobulinemia; Increased circulating IgA level; Increased levels of IgA; Increased serum IgA","HPO_Name__c":"Increased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin M in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003496","HPO_Synonym__c":"Increased IgM levels; Increased levels of IgM","HPO_Name__c":"Increased circulating IgM level","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005200","HPO_Name__c":"Retroperitoneal fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased concentration of the IgG4 subtype in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032300","HPO_Name__c":"Increased circulating IgG4 level","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001970","HPO_Synonym__c":"Interstitial nephritis; Nephritis, Tubulointerstitial","HPO_Name__c":"Tubulointerstitial nephritis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the serum that react against nuclei or nuclear components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003493","HPO_Synonym__c":"Antinuclear antibodies; Antinuclear antibody positive; Elevated antinuclear antibody; Serum antinuclear antibody","HPO_Name__c":"Antinuclear antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000315","HPO_Synonym__c":"Abnormality of the eye region; Abnormality of the region around the eyes","HPO_Name__c":"Abnormality of the orbital region","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010287","HPO_Synonym__c":"Abnormality of the submaxillary glands","HPO_Name__c":"Abnormality of the submandibular glands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032230","HPO_Synonym__c":"Anti-neutrophil cytoplasmic antibody positivity; C-ANCA antibodies; Cytoplasmic antineutrophil cytoplasmic antibodies","HPO_Name__c":"Cytoplasmic antineutrophil antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Edema in the region of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100540","HPO_Synonym__c":"Edema of the eyelids; Eyelid edema; Fullness of eyelids; Puffy eyelids; Puffy lids; Swelling of eyelids","HPO_Name__c":"Palpebral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally big lacrimal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007734","HPO_Synonym__c":"Enlarged tear gland","HPO_Name__c":"Enlarged lacrimal glands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the salivary glands, the exocrine glands that produce saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010286","HPO_Synonym__c":"Abnormality of the salivary glands","HPO_Name__c":"Abnormal salivary gland morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology","Rheumatology","Otolaryngology","Pediatrics"]},"synonyms":["chronic dacryoadenitis and sialadenitis"," mikulicz disease"," mikulicz syndrome"," mikulicz' disease"," mikulicz's disease"," mikulicz's syndrome"," non-sjogren syndrome"," salivary gland hyperplasia"]}