- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:449395)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:449395)
- Increased circulating IgG4 concentration (HP:0032300): An abnormally increased concentration of the IgG4 subtype in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:449395)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- 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:449395)
- Reduced circulating complement concentration (HP:0004431): An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- 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:449395)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- Increased circulating IgG1 concentration (HP:0032298): An abnormally increased concentration of the IgG1 subtype in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- Renal interstitial immunoglobulin deposits (HP:0032616): Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449395)
- 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:449395)
- Prostatitis (HP:0000024): The presence of inflammation of the prostate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Dacryocystitis (HP:0000620): Inflammation of the nasolacrimal sac. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Cholecystitis (HP:0001082): The presence of inflammatory changes in the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Abnormal aortic morphology (HP:0001679): An abnormality of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Pleuritis (HP:0002102): Inflammation of the pleura. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Retroperitoneal fibrosis (HP:0005200). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Ureteral obstruction (HP:0006000): Obstruction of the flow of urine through the ureter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Interstitial pneumonitis (HP:0006515). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Inflammatory abnormality of the skin (HP:0011123): The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Abnormality of the anterior pituitary (HP:0011747): An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Arteritis (HP:0012089): Arterial inflammation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Membranous nephropathy (HP:0012578): A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Albuminuria (HP:0012592): Increased concentration of albumin in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Nephrotic range proteinuria (HP:0012593): Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Abnormal ureter morphology (HP:0025633): A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- 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: Occasional (HP:0040283). (ORPHA:449395)
- Decreased circulating retinol-binding protein concentration (HP:0031032): The concentration of retinol-binding protein in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Abnormal breast morphology (HP:0031093): Any anomaly of the structure of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Sialadenitis (HP:0031281): Inflammation of a salivary gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Lymphocytoma cutis (HP:0031549): Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Abnormal mediastinum morphology (HP:0045026): Any structural anomaly of the central compartment of the thoracic cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Abnormal mesentery morphology (HP:0100016): Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Urinary bladder inflammation (HP:0100577): Inflammation of the urinary bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Urethritis (HP:0500006): Inflammation of the urethra. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449395)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449395)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449395)
- 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: Very rare (HP:0040284). (ORPHA:449395)
These phenotypes are associated with the disease IgG4-related kidney disease (ORPHA:449395).
The following phenotypes are NOT associated with this disease:
- Sterile pyuria (HP:0100586): Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria. Evidence: TAS. (ORPHA:449395)