Phenotypes associated with the disease Hereditary hemorrhagic telangiectasia (ORPHA:774):
- Lip telangiectasia (HP:0000214): Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:774)
- Tongue telangiectasia (HP:0000227): Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:774)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:774)
- Nasal mucosa telangiectasia (HP:0000434): Telangiectasia of the nasal mucosa. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:774)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:774)
- Spontaneous, recurrent epistaxis (HP:0004406). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:774)
- Mucosal telangiectasiae (HP:0100579): Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:774)
- Telangiectasia of the skin (HP:0100585): Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:774)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:774)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:774)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:774)
- Pulmonary arteriovenous malformation (HP:0006548): Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:774)
- Hepatic arteriovenous malformation (HP:0006574). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:774)
- Abnormal cardiovascular system physiology (HP:0011025): Abnormal functionality of the cardiovascular system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:774)
- Arteriovenous malformation (HP:0100026): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:774)
- Visceral angiomatosis (HP:0100761). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:774)
- Conjunctival telangiectasia (HP:0000524): The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- 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:774)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- 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:774)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Pulmonary embolism (HP:0002204): An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Cerebral arteriovenous malformation (HP:0002408): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Gastrointestinal arteriovenous malformation (HP:0002629): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Retinal telangiectasia (HP:0007763): Localized, irregular dilatation of small tortuous intraretinal blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Abnormal cerebral vascular morphology (HP:0100659): An anomaly of the cerebral blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Peripheral arteriovenous fistula (HP:0100784). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)
- Intestinal polyposis (HP:0200008): The presence of multiple polyps in the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:774)