Phenotypes associated with the disease granulomatosis with polyangiitis (OMIM:608710):
- Pleuritis (HP:0002102): Inflammation of the pleura. Evidence: IEA. (PMID:26684637)
- Hemosiderin-laden macrophages in bronchoalveolar fluid (HP:0032979): Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP). Evidence: PCS. (PMID:28410589)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. (PMID:26684637)
- Diffuse alveolar hemorrhage (HP:0025420): A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. Evidence: PCS. (PMID:25149391)
- Polygenic inheritance (HP:0010982): A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. Evidence: PCS. (PMID:22808956)
- 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: PCS. (PMID:25149391)
- Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977): Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. Evidence: PCS. (PMID:21885400)
- Subglottic stenosis (HP:0001607). Evidence: PCS. Frequency: 105/972. (PMID:31199488;PMID:26684637)
- Concave nasal ridge (HP:0011120): Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. Evidence: IEA. (PMID:25149391)
- Granulomatosis (HP:0002955): A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. Evidence: PCS. (PMID:22808956)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. (PMID:25149391)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: PCS. (PMID:25149391)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: PCS. (PMID:26684637)
- Tracheal stenosis (HP:0002777). Evidence: PCS. Frequency: 6/35. (PMID:25630847)
- 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: PCS. (PMID:26684637)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. (PMID:26684637)
- Pulmonary infiltrates (HP:0002113). Evidence: PCS. (PMID:26684637)
- Rhinorrhea (HP:0031417): Increased discharge of mucus from the nose. Evidence: PCS. (PMID:25149391)
- Oral ulcer (HP:0000155): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: PCS. (PMID:26684637)
- Retinal hemorrhage (HP:0000573): Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage. Evidence: PCS. (PMID:26684637)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: PCS. (PMID:26684637)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. (PMID:26684637)
- Pediatric onset (HP:0410280): Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. Evidence: PCS. (PMID:19877069)
- Nasal mucosa vasculitis (HP:0034920): Inflammation of blood vessels in the mucosa of the nasal cavity. Evidence: PCS. Frequency: 7/17. (PMID:2001873)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. (PMID:25149391)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. (PMID:26684637)
- 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: PCS. Frequency: 33/321. (PMID:27428559)
- Episcleritis (HP:0100534): Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. Evidence: PCS. (PMID:26684637)
- Gangrene (HP:0100758): A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). Evidence: PCS. (PMID:26684637)
- Cytoplasmic antineutrophil antibody positivity (HP:0032230): The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. Evidence: PCS. Frequency: 283/331. (PMID:27428559;PMID:22808956)
- Localized pulmonary hemorrhage (HP:0032990): Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder. Evidence: PCS. (PMID:25149391)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. (PMID:26684637)
- Sinusitis (HP:0000246): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: PCS. (PMID:25149391)
- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: PCS. (PMID:25149391)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: PCS. (PMID:25149391)