Phenotypes associated with the disease Pulmonary alveolar microlithiasis (ORPHA:60025):
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60025)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60025)
- Increased pulmonary vascular resistance (HP:0005317): Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60025)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60025)
- Oxygen desaturation on exertion (HP:0030874): Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60025)
- Nonproductive cough (HP:0031246): A cough that does not produce phlegm or mucus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60025)
- Elevated circulating surfactant protein concentration (HP:0032094): The concentration of surfactant protein in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60025)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60025)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Right ventricular failure (HP:0001708): Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Pulmonary infiltrates (HP:0002113). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Fatigable weakness (HP:0003473): A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Peripheral edema (HP:0012398): An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Subpleural interstitial thickening (HP:0025178): Increase in thickness of the subpleural interstitium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Interlobular septal thickening (HP:0030879): Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Pleural thickening (HP:0031944): An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60025)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- 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: Very rare (HP:0040284). (ORPHA:60025)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Stippled calcification in carpal bones (HP:0004241): Point-shaped (punctate) calcifications affecting the carpal bones. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Mitral valve calcification (HP:0004382): Abnormal calcification of the mitral valve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Calcium nephrolithiasis (HP:0004724): The presence of calcium-containing calculi (stones) in the kidneys. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Calcification of the aorta (HP:0004963): Calcification, that is, pathological deposition of calcium salts in the aorta. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Gonadal calcification (HP:0008703): Deposition of calcium salts in gonadal tissue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Ectopic calcification (HP:0010766): Deposition of calcium salts in a tissue or location in which calcification does not normally occur. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Respiratory tract infection (HP:0011947): An infection of the upper or lower respiratory tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- Testicular microlithiasis (HP:0012215): The deposition of calcium phosphate microliths within the seminiferous tubules. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
- 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: Very rare (HP:0040284). (ORPHA:60025)
- Ground-glass opacification (HP:0025179): On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60025)
Not associated with this disease:
- Abnormal circulating calcium concentration (HP:0004363): Any deviation from the normal concentration of calcium in the blood circulation. Evidence: TAS. (ORPHA:60025)
- Abnormal circulating phosphate ion concentration (HP:0100529): Any deviation from the normal concentration of phosphate ion in the blood circulation. Evidence: TAS. (ORPHA:60025)