Phenotypes associated with the disease Primary Sjögren disease (ORPHA:289390):
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289390)
- Keratoconjunctivitis sicca (HP:0001097): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289390)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- 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:289390)
- Polyarticular arthropathy (HP:0005195). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Parotitis (HP:0011850): Inflammation of the parotid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Chronic pain (HP:0012532): Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Usual interstitial pneumonia (HP:0031950): Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Anti-Ro/SS-A antibody positivity (HP:0033555): The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Anti-salivary protein antibody positivity (HP:0034064): The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Anti-carbonic anhydrase VI antibody positivity (HP:0034066): The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- Anti-parotid secretory protein antibody positivity (HP:0034069): The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289390)
- 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: Occasional (HP:0040283). (ORPHA:289390)
- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Cutis marmorata (HP:0000965): A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Vitiligo (HP:0001045). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Abnormality of blood and blood-forming tissues (HP:0001871): An abnormality of the hematopoietic system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Normochromic anemia (HP:0001895). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- 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:289390)
- Morphological central nervous system abnormality (HP:0002011): A structural abnormality of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Biliary cirrhosis (HP:0002613): Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- 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: Occasional (HP:0040283). (ORPHA:289390)
- Lymphoproliferative disorder (HP:0005523). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Lymphocytic interstitial pneumonia (HP:0006527): Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Airway obstruction (HP:0006536): Obstruction of conducting airways of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Arteritis (HP:0012089): Arterial inflammation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Erythema nodosum (HP:0012219): An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Bronchitis (HP:0012387): Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Anti-dsDNA antibody positivity (HP:0020151): The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Vaginal dryness (HP:0031088): Persistent vaginal dryness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Nonproductive cough (HP:0031246): A cough that does not produce phlegm or mucus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Lichenoid skin lesion (HP:0031452): Multiple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Abnormal pulmonary thoracic imaging finding (HP:0031983): This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Anti-ribosome Po antibody positivity (HP:0034076): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Anti-Ro52/TRIM21 antibody positivity (HP:0034093): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- 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: Occasional (HP:0040283). (ORPHA:289390)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Optic neuritis (HP:0100653): Inflammation of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Chronic hepatitis (HP:0200123): Hepatitis that lasts for more than six months. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Abnormality of the peripheral nervous system (HP:0410008): Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289390)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289390)
- Chorea (HP:0002072): Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289390)
- Abnormal spinal cord morphology (HP:0002143): A structural abnormality of the spinal cord (myelon). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289390)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289390)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289390)
- Multiple mononeuropathy (HP:0032018): A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289390)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289390)
- Corneal perforation (HP:0100583): A rupture of the cornea through which a portion of the iris protrudes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289390)
- Chronic active hepatitis (HP:0200120): Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289390)