Phenotypes associated with the disease Tubulointerstitial nephritis and uveitis syndrome (ORPHA:91500):
- 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:91500)
- Nongranulomatous uveitis (HP:0007813): A form of uveitis that is not associated with the formation of granulomas. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91500)
- Beta 2-microglobulinuria (HP:0025466): Increased level of beta 2-microglobulins in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91500)
- Renal lymphocytic tubulitis (HP:0032589): Infiltration of the renal tubular epithelium by lymphocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91500)
- Renal neutrophilic tubulitis (HP:0032590): Infiltration of the renal tubular epithelium by neutrophils. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91500)
- Renal interstitial edema (HP:0032637): Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91500)
- Papilledema (HP:0001085): Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Anterior uveitis (HP:0012122): Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Posterior uveitis (HP:0012123): Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Decreased glomerular filtration rate (HP:0012213): An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Mild proteinuria (HP:0012595): Mildly increased levels of protein in the urine (150-500 mg per day in adults). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Red eye (HP:0025337): A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Ocular pain (HP:0200026): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91500)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Normochromic anemia (HP:0001895). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Normocytic anemia (HP:0001897): A kind of anemia in which the volume of the red blood cells is normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Renal Fanconi syndrome (HP:0001994): An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- 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:91500)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- 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:91500)
- Hyperchloremic metabolic acidosis (HP:0004918): A form of metabolic acidosis with increased serum chloride levels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Vitreous hemorrhage (HP:0007902): Bleeding within the vitreous compartment of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Renal tubular epithelial necrosis (HP:0008682): Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- 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:91500)
- Posterior synechiae of the anterior chamber (HP:0011484): Adhesions between the iris and the lens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Cystoid macular edema (HP:0011505): Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Choroidal neovascularization (HP:0011506): Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Panuveitis (HP:0012121): Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Intermediate uveitis (HP:0012124): Inflammation of the uveal tract in which the primary site of inflammation is the vitreous. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Retinal vasculitis (HP:0025188): Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. It can affect veins, arteries or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Flank pain (HP:0030157): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Anterior chamber flare (HP:0031616): An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Reduced hematocrit (HP:0031851): A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Macular edema (HP:0040049): Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Scleritis (HP:0100532): Inflammation of the sclera. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91500)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91500)
- Chorioretinal scar (HP:0007777): Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91500)
- Iris nevus (HP:0011525): A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91500)