Phenotypes associated with the disease Lymphangioleiomyomatosis (ORPHA:538):
- Abnormal morphology of female internal genitalia (HP:0000008): An abnormality of the female internal genitalia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- 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:538)
- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- 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:538)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- 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: Frequent (HP:0040282). (ORPHA:538)
- 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: Very frequent (HP:0040281). (ORPHA:538)
- 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: Very frequent (HP:0040281). (ORPHA:538)
- Emphysema (HP:0002097). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538)
- 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:538)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538)
- Pulmonary infiltrates (HP:0002113). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:538)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Renal angiomyolipoma (HP:0006772): A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538)
- Retinal hamartoma (HP:0009594): A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Shagreen patch (HP:0009721): A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Renal neoplasm (HP:0009726): The presence of a neoplasm of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Chylothorax (HP:0010310): Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538)
- Chylopericardium (HP:0011852): Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Abnormal urinary color (HP:0012086): An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Macule (HP:0012733): A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:538)
- Pulmonary lymphangiomyomatosis (HP:0012798): Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:538)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538)
- Abnormality of the lymphatic system (HP:0100763): An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:538)
- Ungual fibroma (HP:0100804): Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538)