- 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: PCS. Frequency: 29/65. (PMID:16542389;PMID:18312453;PMID:12920067;PMID:19270816)
- Right-to-left shunt (HP:0001694): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. Evidence: IEA. (OMIM:187300)
- 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: IEA. (OMIM:187300)
- Ischemic stroke (HP:0002140): Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. Evidence: IEA. (OMIM:187300)
- Dilatation of mesenteric artery (HP:0011934): Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . Evidence: TAS. (OMIM:187300)
- Hemothorax (HP:0012151): The presence of blood in the pleural space. Evidence: PCS. (PMID:30057878)
- 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: PCS. Frequency: 1/1. (PMID:18312453)
- High-output congestive heart failure (HP:0001722): A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. Evidence: IEA. (OMIM:187300)
- Nasal mucosa telangiectasia (HP:0000434): Telangiectasia of the nasal mucosa. Evidence: IEA. (OMIM:187300)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: IEA. (OMIM:187300)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. (OMIM:187300)
- Miscarriage (HP:0005268): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: PCS. Frequency: 8/28. (PMID:12920067)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: PCS. Frequency: 20/49. (PMID:12920067)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: PCS. (PMID:30336550)
- Spinal arteriovenous malformation (HP:0002390). Evidence: IEA. (OMIM:187300)
- 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: PCS. Frequency: 2/2. (PMID:19270816)
- Pulmonary hemorrhage (HP:0040223): Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease. Evidence: PCS. (PMID:30057878)
- Dilatation of celiac artery (HP:0100858): Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. Evidence: TAS. (OMIM:187300)
- 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: IEA. (OMIM:187300)
- Palate telangiectasia (HP:0002707): The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. Evidence: IEA. (OMIM:187300)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: IEA. (OMIM:187300)
- 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. (OMIM:187300)
- Venous varicosities of celiac and mesenteric vessels (HP:0002626): Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. Evidence: IEA. (OMIM:187300)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: IEA. (OMIM:187300)
- Spontaneous, recurrent epistaxis (HP:0004406). Evidence: IEA. Onset: Juvenile onset (HP:0003621). (OMIM:187300)
- Spontaneous, recurrent epistaxis (HP:0004406). Evidence: PCS. Frequency: 48/49. Onset: Childhood onset (HP:0011463). (PMID:12920067)
- Spontaneous, recurrent epistaxis (HP:0004406). Evidence: PCS. Frequency: 13/13. (PMID:16542389)
- Spontaneous, recurrent epistaxis (HP:0004406). Evidence: PCS. Frequency: 1/1. (PMID:18312453)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:12920067)
- Fingerpad telangiectases (HP:0006107): Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. Evidence: IEA. (OMIM:187300)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: PCS. Frequency: 1/1. (PMID:19364794)
- Nail bed telangiectasia (HP:0001232): Telangiectases in the area of the nails. Evidence: IEA. (OMIM:187300)
- Arteriovenous fistulas of celiac and mesenteric vessels (HP:0002642). Evidence: IEA. (OMIM:187300)
- 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: IEA. (OMIM:187300)
- Reduced FEV1/FVC ratio (HP:0030877): Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). Evidence: PCS. Frequency: 11/126. (PMID:17220751)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:187300)
- Hepatic arteriovenous malformation (HP:0006574). Evidence: PCS. Frequency: 1/2. (PMID:19270816)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. (PMID:17641482)
- Polycythemia (HP:0001901): Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Evidence: IEA. (OMIM:187300)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: PCS. Frequency: 1/13. (PMID:16542389)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: PCS. (PMID:17641482)
- Lip telangiectasia (HP:0000214): Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. Evidence: IEA. (OMIM:187300)
- Brain abscess (HP:0030049): A collection of pus, immune cells, and other material in the brain. Evidence: PCS. (PMID:1518020)
- Hematochezia (HP:0002573): The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. Evidence: IEA. (OMIM:187300)
- Gastrointestinal angiodysplasia (HP:0000471): Dysplasia affecting the vasculature of the gastrointestinal tract. Evidence: IEA. (OMIM:187300)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 20/20. (OMIM:187300;PMID:30057878)
- Exacerbated by pregnancy (HP:0032542): Applied to a sign or symptom that is worsened by being pregnant. Evidence: PCS. (PMID:30057878)
- 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: PCS. (PMID:26015855)
- 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: PCS. Frequency: 19/126. (PMID:17220751)
- Intermediate young adult onset (HP:0025709): Onset of disease at an age of greater than or equal to 19 to under 25 years. Evidence: PCS. Frequency: 1/1. (PMID:18312453)
- 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: PCS. Frequency: 5/62. (PMID:16542389;PMID:12920067)
- Tongue telangiectasia (HP:0000227): Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. Evidence: IEA. (OMIM:187300)
- Gastrointestinal telangiectasia (HP:0002604): Telangiectasia affecting the gastrointestinal tract. Evidence: IEA. (OMIM:187300)
- Melena (HP:0002249): The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. Evidence: IEA. (OMIM:187300)
- Transient ischemic attack (HP:0002326). Evidence: IEA. (OMIM:187300)
- Hematemesis (HP:0002248): The vomiting of blood. Evidence: IEA. (OMIM:187300)
These phenotypes are associated with the disease telangiectasia, hereditary hemorrhagic, type 1 (OMIM:187300).