Phenotypes associated with the disease telangiectasia, hereditary hemorrhagic, type 2 (OMIM:600376):
- Nail bed telangiectasia (HP:0001232): Telangiectases in the area of the nails. Evidence: IEA. (OMIM:600376)
- 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: IEA. (OMIM:600376)
- 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:600376)
- 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:600376)
- 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:600376)
- 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:600376)
- Facial telangiectasia (HP:0007380): Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. Evidence: PCS. Frequency: 8/10. (PMID:17219009)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:600376)
- Palmar telangiectasia (HP:0100869): The presence of telangiectases on the skin of palm of hand. Evidence: PCS. Frequency: 8/10. (PMID:17219009)
- Hepatic arteriovenous malformation (HP:0006574). Evidence: IEA. (OMIM:600376)
- 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:600376)
- Lip telangiectasia (HP:0000214): Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. Evidence: IEA. (OMIM:600376)
- Nasal mucosa telangiectasia (HP:0000434): Telangiectasia of the nasal mucosa. Evidence: IEA. (OMIM:600376)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: IEA. (OMIM:600376)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. (OMIM:600376)
- Brain abscess (HP:0030049): A collection of pus, immune cells, and other material in the brain. Evidence: TAS. (OMIM:600376)
- 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:600376)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: IEA. (OMIM:600376)
- Gastrointestinal angiodysplasia (HP:0000471): Dysplasia affecting the vasculature of the gastrointestinal tract. Evidence: IEA. (OMIM:600376)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: IEA. (OMIM:600376)
- 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: IEA. (OMIM:600376)
- Spinal arteriovenous malformation (HP:0002390). Evidence: IEA. (OMIM:600376)
- 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:600376)
- 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:600376)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:600376)
- Oral cavity telangiectasia (HP:0000228): Presence of telangiectases in the oral cavity. Evidence: PCS. Frequency: 6/10. (PMID:17219009)
- 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: IEA. (OMIM:600376)
- 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:600376)
- 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: IEA. (OMIM:600376)
- Tongue telangiectasia (HP:0000227): Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. Evidence: IEA. (OMIM:600376)
- Choriocapillaris atrophy (HP:0030491): Atrophy of the capillary lamina of choroid. Evidence: TAS. (OMIM:600376)
- Gastrointestinal telangiectasia (HP:0002604): Telangiectasia affecting the gastrointestinal tract. Evidence: PCS. Frequency: 12/20. (OMIM:600376;PMID:17219009)
- 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:600376)
- 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: PCS. Frequency: 3/10. (PMID:17219009)
- Spontaneous, recurrent epistaxis (HP:0004406). Evidence: PCS. Frequency: 10/10. Onset: Childhood onset (HP:0011463). (PMID:17219009)
- Transient ischemic attack (HP:0002326). Evidence: IEA. (OMIM:600376)
- 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:8640225)
- Fingerpad telangiectases (HP:0006107): Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. Evidence: IEA. (OMIM:600376)
- Hematemesis (HP:0002248): The vomiting of blood. Evidence: IEA. (OMIM:600376)