Phenotypes associated with the disease IgG4-related systemic disease (ORPHA:596448):
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Retroperitoneal fibrosis (HP:0005200). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Decreased circulating complement C3 concentration (HP:0005421): Concentration of the complement component C3 in the blood circulation below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Sclerosing cholangitis (HP:0030991): Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Abnormal pancreatic duct morphology (HP:0030992): Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Sialadenitis (HP:0031281): Inflammation of a salivary gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Increased circulating IgG4 concentration (HP:0032300): An abnormally increased concentration of the IgG4 subtype in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Decreased circulating complement C4 concentration (HP:0045042): Concentration of the complement component C4 in the blood circulation below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:596448)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:596448)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:596448)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:596448)
- Abnormality of complement system (HP:0005339): An abnormality of the complement system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:596448)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:596448)
- Granuloma (HP:0032252): A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:596448)
- Abnormality of the orbital region (HP:0000315). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:596448)
Not associated with this disease:
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. (ORPHA:596448)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. (ORPHA:596448)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. (ORPHA:596448)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. (ORPHA:596448)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. (ORPHA:596448)
- Perinuclear antineutrophil antibody positivity (HP:0032229): The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. Evidence: TAS. (ORPHA:596448)
- Anti-La/SS-B antibody positivity (HP:0032235): The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. Evidence: TAS. (ORPHA:596448)
- Anti-U1 ribonucleoprotein antibody positivity (HP:0033028): The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. Evidence: TAS. (ORPHA:596448)
- Anti-Sm antibody positivity (HP:0033040): The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. Evidence: TAS. (ORPHA:596448)
- Anti-Ro/SS-A antibody positivity (HP:0033555): The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. Evidence: TAS. (ORPHA:596448)
- Crohn's disease (HP:0100280): A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. Evidence: TAS. (ORPHA:596448)
- Cryoglobulinemia (HP:0100778): Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius. Evidence: TAS. (ORPHA:596448)